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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADK_chr10_74146221_74714290 | 74485462 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02886.hp1 HG02970.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0095a0001c0001t0001g0097a0001c0001t0001g0143others(6): Show | 9 | 200 | 0.0450 | -12 | c.556 others(31): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADK_chr10_74146221_74714290 | 74514179 | GTCTAATG others(5): Show |
G | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 200 | 0.0050 | -12 | c.556 others(31): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADK_chr10_74146221_74714290 | 74533788 | GACAGATG others(5): Show |
G | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 200 | 0.0050 | -12 | c.726 others(29): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADK_chr10_74146221_74714290 | 74547440 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02559.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0037others(7): Show | 10 | 200 | 0.0500 | -12 | c.726 others(31): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADK_chr10_74146221_74714290 | 74619012 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 200 | 0.0050 | -12 | c.877 others(31): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADK_chr10_74146221_74714290 | 74665736 | TGAGAGAG others(5): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 200 | 0.0050 | -12 | c.878 others(29): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADM2_chr22_50476543_50491437 | 50478517 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02109.hp2 others(29): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0001a0001c0001t0003g0001a0001c0001t0004g0001others(11): Show | 32 | 446 | 0.0718 | -12 | c.-32 others(23): Show |
ADM2 | ENSG00000128165.9 | transcript | ENST00000395737.2 | protein_coding | 3025 | chr22 | TogoVar | ||||||
ADM5_chr19_49684594_49695575 | 49694087 | AAAATAAA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 392 | 0.0026 | -12 | c.*35 others(23): Show |
ADM5 | ENSG00000224420.4 | transcript | ENST00000420022.4 | protein_coding | 3513 | chr19 | TogoVar | ||||||
ADNP2_chr18_80104262_80145346 | 80129095 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0099 | 1 | 388 | 0.0026 | -12 | c.109 others(29): Show |
ADNP2 | ENSG00000101544.9 | transcript | ENST00000262198.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ADNP2_chr18_80104262_80145346 | 80134386 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0224 | 1 | 388 | 0.0026 | -12 | c.199 others(29): Show |
ADNP2 | ENSG00000101544.9 | transcript | ENST00000262198.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ADNP_chr20_50883918_50936437 | 50913250 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0099 | a0001c0001t0099g0324 | 1 | 358 | 0.0028 | -12 | c.-89 others(29): Show |
ADNP | ENSG00000101126.18 | transcript | ENST00000621696.5 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
ADNP_chr20_50883918_50936437 | 50913277 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0010 | a0010c0016 | a0010c0016t0076 | a0010c0016t0076g0175 | 1 | 358 | 0.0028 | -12 | c.-89 others(29): Show |
ADNP | ENSG00000101126.18 | transcript | ENST00000621696.5 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
ADNP_chr20_50883918_50936437 | 50919285 | TTAAGTGT others(5): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0055 | 1 | 358 | 0.0028 | -12 | c.-90 others(29): Show |
ADNP | ENSG00000101126.18 | transcript | ENST00000621696.5 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
ADORA1_chr1_203122726_203172405 | 203155016 | TTTATTAT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01361.hp2 HG03669.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0005 | a0001c0001t0005g0113a0001c0001t0005g0117a0001c0002t0005g0008others(7): Show | 12 | 408 | 0.0294 | -12 | c.342 others(31): Show |
ADORA1 | ENSG00000163485.18 | transcript | ENST00000337894.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ADORA3_chr1_111494429_111508633 | 111507033 | GTGTGTGT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00733.hp2 HG00738.hp2 HG01069.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0004 | a0001c0001t0002g0008a0003c0004t0004g0009 | 8 | 458 | 0.0175 | -12 | c.-36 others(23): Show |
ADORA3 | ENSG00000282608.2 | transcript | ENST00000241356.5 | protein_coding | 3401 | chr1 | TogoVar | ||||||
ADORA3_chr1_111494429_111508633 | 111507039 | GTATATAT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0003others(2): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0008others(9): Show | 38 | 458 | 0.0830 | -12 | c.-36 others(23): Show |
ADORA3 | ENSG00000282608.2 | transcript | ENST00000241356.5 | protein_coding | 3407 | chr1 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113395803 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01361.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185a0001c0001t0001g0215 | 2 | 262 | 0.0076 | -12 | c.*75 others(23): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 3807 | chr13 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113413606 | GCTGAGTG others(5): Show |
G | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 262 | 0.0038 | -12 | c.106 others(31): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113424923 | AATCCATC others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02145.hp1 others(1): Show |
a0001a0002a0034 | a0001c0001a0002c0002a0034c0045 | a0001c0001t0001a0001c0001t0045a0002c0002t0069others(1): Show | a0001c0001t0001g0200a0001c0001t0045g0258a0002c0002t0069g0058others(1): Show | 4 | 262 | 0.0153 | -12 | c.774 others(27): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
ADPRH_chr3_119574492_119594945 | 119594641 | CTAAAAAG others(5): Show |
C | downstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 454 | 0.0022 | -12 | c.*67 others(23): Show |
ADPRH | ENSG00000144843.12 | transcript | ENST00000357003.8 | protein_coding | 4697 | chr3 | TogoVar | ||||||
ADPRS_chr1_36083892_36098932 | 36090679 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 410 | 0.0024 | -12 | c.212 others(27): Show |
ADPRS | ENSG00000116863.11 | transcript | ENST00000373178.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ADRA1B_chr5_159911482_159978012 | 159939278 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02055.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004a0001c0002t0001g0053a0001c0002t0001g0054others(3): Show | 7 | 384 | 0.0182 | -12 | c.949 others(31): Show |
ADRA1B | ENSG00000170214.5 | transcript | ENST00000306675.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADRA1B_chr5_159911482_159978012 | 159939316 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | HG02083.hp1 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151a0001c0001t0001g0282 | 2 | 384 | 0.0052 | -12 | c.949 others(31): Show |
ADRA1B | ENSG00000170214.5 | transcript | ENST00000306675.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADRA1B_chr5_159911482_159978012 | 159945748 | GTTTGTTT others(5): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0315 | 1 | 384 | 0.0026 | -12 | c.950 others(31): Show |
ADRA1B | ENSG00000170214.5 | transcript | ENST00000306675.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADRA1B_chr5_159911482_159978012 | 159957929 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 384 | 0.0026 | -12 | c.950 others(31): Show |
ADRA1B | ENSG00000170214.5 | transcript | ENST00000306675.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADRA1B_chr5_159911482_159978012 | 159957946 | AAAAAAAG others(5): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01109.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0002c0006t0001 | a0001c0001t0001g0004a0001c0001t0001g0170a0001c0001t0001g0171others(11): Show | 15 | 384 | 0.0391 | -12 | c.950 others(31): Show |
ADRA1B | ENSG00000170214.5 | transcript | ENST00000306675.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADRA1D_chr20_4215630_4254287 | 4227704 | CTCCTTCC others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp2 others(36): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0017a0001c0001t0001g0019others(33): Show | 39 | 452 | 0.0863 | -12 | c.111 others(31): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 1/1 | chr20 | TogoVar | ||||||
ADRA1D_chr20_4215630_4254287 | 4231038 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0340a0001c0001t0004g0341 | 2 | 452 | 0.0044 | -12 | c.111 others(31): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 1/1 | chr20 | TogoVar | ||||||
ADRA2B_chr2_96107876_96121571 | 96111513 | GAGAGCTG others(5): Show |
G | downstream_gene_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0000 | 1 | 390 | 0.0026 | -12 | c.*32 others(23): Show |
ADRA2B | ENSG00000274286.2 | transcript | ENST00000620793.2 | protein_coding | 1362 | chr2 | TogoVar | ||||||
ADRA2B_chr2_96107876_96121571 | 96120974 | TCAGGGCC others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(200): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(13): Show | a0001c0001t0001g0000a0001c0001t0004g0000a0001c0001t0007g0000others(13): Show | 203 | 390 | 0.5205 | -12 | c.-48 others(23): Show |
ADRA2B | ENSG00000274286.2 | transcript | ENST00000620793.2 | protein_coding | 4404 | chr2 | TogoVar | ||||||
ADRA2C_chr4_3761385_3773526 | 3767568 | AGGGGGCG others(5): Show |
A | disruptive_inframe_deletion | MODERATE | HG00639.hp2 HG00673.hp1 HG01081.hp2 others(65): Show |
a0002a0003a0004others(3): Show | a0002c0003a0002c0015a0003c0006others(4): Show | a0002c0003t0002a0002c0003t0006a0002c0003t0007others(7): Show | a0002c0003t0002g0000a0002c0003t0006g0000a0002c0003t0007g0000others(7): Show | 68 | 420 | 0.1619 | -12 | c.971 others(19): Show |
p.Gly others(13): Show |
ADRA2C | ENSG00000184160.8 | transcript | ENST00000330055.7 | protein_coding | 1/1 | 1193/2142 | 971/1389 | 324/462 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
ADRB3_chr8_37957990_37971599 | 37959661 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 362 | 0.0028 | -12 | c.*45 others(23): Show |
ADRB3 | ENSG00000188778.6 | transcript | ENST00000345060.5 | protein_coding | 3328 | chr8 | TogoVar | ||||||
ADSS1_chr14_104719229_104752310 | 104736881 | GATATATA others(5): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG02074.hp1 HG03540.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0002t0001g0039others(1): Show | 5 | 402 | 0.0124 | -12 | c.296 others(29): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADSS2_chr1_244403494_244456909 | 244435168 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03041.hp2 HG03195.hp1 HG03225.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0104a0001c0001t0004g0159a0001c0001t0004g0160others(2): Show | 5 | 408 | 0.0123 | -12 | c.355 others(29): Show |
ADSS2 | ENSG00000035687.10 | transcript | ENST00000366535.4 | protein_coding | 3/12 | chr1 | TogoVar | ||||||
ADSS2_chr1_244403494_244456909 | 244444339 | CCCCGTCT others(5): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 408 | 0.0025 | -12 | c.184 others(29): Show |
ADSS2 | ENSG00000035687.10 | transcript | ENST00000366535.4 | protein_coding | 1/12 | chr1 | TogoVar | ||||||
AEBP1_chr7_44099345_44119560 | 44118168 | CTGGCCTT others(5): Show |
C | downstream_gene_variant | MODIFIER | NA19078.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0002 | 1 | 426 | 0.0024 | -12 | c.*39 others(23): Show |
AEBP1 | ENSG00000106624.11 | transcript | ENST00000223357.8 | protein_coding | 3609 | chr7 | TogoVar | ||||||
AEBP2_chr12_19434492_19527227 | 19468126 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG01109.hp1 HG01358.hp1 others(49): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0010others(4): Show | a0001c0002t0001g0047a0001c0002t0001g0048a0001c0002t0001g0049others(49): Show | 52 | 404 | 0.1287 | -12 | c.880 others(29): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19473376 | AATTTATT others(5): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01071.hp2 HG01167.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013a0001c0001t0022others(1): Show | a0001c0001t0005g0129a0001c0001t0005g0130a0001c0001t0005g0131others(33): Show | 36 | 404 | 0.0891 | -12 | c.987 others(25): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19479717 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02818.hp1 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0015 | a0001c0001t0005g0148a0001c0001t0015g0234 | 2 | 404 | 0.0050 | -12 | c.987 others(29): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEBP2_chr12_19434492_19527227 | 19494009 | CTGGTGTA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(137): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0002g0206a0001c0001t0003g0307a0001c0001t0003g0310others(136): Show | 140 | 404 | 0.3465 | -12 | c.117 others(27): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AEN_chr15_88616340_88637281 | 88633966 | ATTTTTTT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(71): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0014others(8): Show | 74 | 440 | 0.1682 | -12 | c.*36 others(23): Show |
AEN | ENSG00000181026.15 | transcript | ENST00000332810.4 | protein_coding | 1686 | chr15 | TogoVar | ||||||
AFAP1L1_chr5_149266859_149348637 | 149291524 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp1 | a0006 | a0006c0007 | a0006c0007t0008 | a0006c0007t0008g0060 | 1 | 286 | 0.0035 | -12 | c.17- others(27): Show |
AFAP1L1 | ENSG00000157510.14 | transcript | ENST00000296721.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AFAP1L1_chr5_149266859_149348637 | 149291539 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0171 | 1 | 286 | 0.0035 | -12 | c.17- others(27): Show |
AFAP1L1 | ENSG00000157510.14 | transcript | ENST00000296721.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AFAP1L1_chr5_149266859_149348637 | 149305878 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 286 | 0.0035 | -12 | c.437 others(27): Show |
AFAP1L1 | ENSG00000157510.14 | transcript | ENST00000296721.9 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AFAP1L1_chr5_149266859_149348637 | 149346715 | ATTTTTTT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG02965.hp2 HG03041.hp1 HG03225.hp2 |
a0001a0006a0009 | a0001c0001a0006c0007a0009c0012 | a0001c0001t0010a0006c0007t0010a0009c0012t0010 | a0001c0001t0010g0176a0006c0007t0010g0152a0009c0012t0010g0061 | 3 | 286 | 0.0105 | -12 | c.*66 others(23): Show |
AFAP1L1 | ENSG00000157510.14 | transcript | ENST00000296721.9 | protein_coding | 3079 | chr5 | TogoVar | ||||||
AFAP1L2_chr10_114289824_114409502 | 114305424 | TGCAGGAG others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(158): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0003a0001c0004others(16): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(27): Show | a0001c0001t0001g0035a0001c0001t0001g0039a0001c0001t0001g0040others(158): Show | 161 | 262 | 0.6145 | -12 | c.107 others(29): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 10/18 | chr10 | TogoVar | ||||||
AFAP1L2_chr10_114289824_114409502 | 114312234 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG00673.hp2 others(20): Show |
a0001a0007a0008 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(7): Show | a0001c0001t0001g0068a0001c0001t0001g0071a0001c0001t0001g0074others(20): Show | 23 | 262 | 0.0878 | -12 | c.792 others(29): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 7/18 | chr10 | TogoVar | ||||||
AFAP1L2_chr10_114289824_114409502 | 114360497 | ATAGATAG others(5): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01884.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0047a0001c0002t0002g0078a0001c0002t0003g0187others(3): Show | 6 | 262 | 0.0229 | -12 | c.17- others(29): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 1/18 | chr10 | TogoVar | ||||||
AFAP1L2_chr10_114289824_114409502 | 114368767 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01099.hp1 HG01106.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(11): Show | a0001c0001t0001g0053a0001c0001t0001g0172a0001c0001t0001g0174others(19): Show | 22 | 262 | 0.0840 | -12 | c.17- others(29): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 1/18 | chr10 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7795405 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01884.hp2 HG02451.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0013a0001c0002t0022a0001c0002t0040others(1): Show | a0001c0002t0013g0210a0001c0002t0013g0224a0001c0002t0013g0310others(5): Show | 8 | 318 | 0.0252 | -12 | c.126 others(31): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 10/17 | chr4 | TogoVar |