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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C3_chr19_6672704_6725650 | 6689287 | A | ACCCCACA others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00733.hp1 others(24): Show |
a0001a0003 | a0001c0008a0001c0009a0001c0017others(9): Show | a0001c0008t0001a0001c0009t0001a0001c0017t0001others(9): Show | a0001c0008t0001g0197a0001c0009t0001g0003a0001c0009t0001g0015others(23): Show | 27 | 370 | 0.0730 | 16 | c.348 others(35): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 27/40 | chr19 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6689291 | C | CACAGTCC others(9): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0053 | a0001c0053t0001 | a0001c0053t0001g0311 | 1 | 370 | 0.0027 | 16 | c.348 others(35): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 27/40 | chr19 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6697041 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG01069.hp2 others(7): Show |
a0001a0002a0004 | a0001c0004a0001c0005a0001c0025others(3): Show | a0001c0004t0001a0001c0005t0001a0001c0025t0001others(3): Show | a0001c0004t0001g0272a0001c0005t0001g0034a0001c0005t0001g0202others(7): Show | 10 | 370 | 0.0270 | 16 | c.279 others(33): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 21/40 | chr19 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6721466 | T | TTGTGTGT others(9): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02083.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(5): Show | a0001c0001t0001g0303a0001c0001t0001g0336a0001c0003t0001g0259others(15): Show | 19 | 370 | 0.0514 | 16 | c.-89 others(25): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 817 | chr19 | TogoVar | ||||||
C3orf20_chr3_14670141_14778036 | 14686193 | C | CGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01934.hp2 HG01952.hp2 others(10): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0005c0004others(3): Show | a0001c0001t0004a0002c0002t0001a0005c0004t0001others(3): Show | a0001c0001t0004g0122a0002c0002t0001g0141a0002c0002t0001g0308others(9): Show | 13 | 380 | 0.0342 | 16 | c.625 others(33): Show |
C3orf20 | ENSG00000131379.10 | transcript | ENST00000253697.8 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C3orf33_chr3_155757617_155811278 | 155770962 | C | CTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03516.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0014a0001c0002t0002g0015a0001c0002t0002g0016others(1): Show | 4 | 406 | 0.0099 | 16 | c.323 others(33): Show |
C3orf33 | ENSG00000174928.16 | transcript | ENST00000340171.7 | protein_coding | 3/4 | chr3 | TogoVar | ||||||
C3orf33_chr3_155757617_155811278 | 155776759 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG03516.hp1 HG03579.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0016a0001c0002t0002g0017 | 2 | 406 | 0.0049 | 16 | c.175 others(31): Show |
C3orf33 | ENSG00000174928.16 | transcript | ENST00000340171.7 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
C3orf33_chr3_155757617_155811278 | 155800610 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 406 | 0.0025 | 16 | c.174 others(33): Show |
C3orf33 | ENSG00000174928.16 | transcript | ENST00000340171.7 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
C3orf38_chr3_88144959_88162965 | 88162142 | G | GAAAAAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG02015.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0031others(4): Show | 14 | 320 | 0.0438 | 16 | c.*55 others(27): Show |
C3orf38 | ENSG00000179021.10 | transcript | ENST00000318887.8 | protein_coding | 4178 | chr3 | TogoVar | ||||||
C3orf52_chr3_112081389_112123210 | 112085348 | A | ATGTGTGT others(9): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 NA18985.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0006a0002c0002t0003g0051 | 2 | 372 | 0.0054 | 16 | c.-10 others(27): Show |
C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 1040 | chr3 | TogoVar | ||||||
C3orf52_chr3_112081389_112123210 | 112088661 | T | TTCTATCT others(9): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 372 | 0.0027 | 16 | c.138 others(33): Show |
C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C3orf52_chr3_112081389_112123210 | 112105570 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0076 | 1 | 372 | 0.0027 | 16 | c.396 others(33): Show |
C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C3orf62_chr3_49263596_49282232 | 49267670 | C | CATTTATT others(9): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00735.hp2 HG03209.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0125a0002c0002t0001g0003a0002c0002t0001g0012others(3): Show | 8 | 326 | 0.0245 | 16 | c.*35 others(27): Show |
C3orf62 | ENSG00000188315.8 | transcript | ENST00000343010.8 | protein_coding | 925 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185120033 | A | AAAAAAGA others(9): Show |
intron_variant | MODIFIER | HG01074.hp1 HG03098.hp1 HG03491.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0011others(4): Show | a0001c0001t0002g0081a0001c0001t0006g0122a0001c0001t0011g0139others(4): Show | 7 | 388 | 0.0180 | 16 | c.196 others(35): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
C3orf80_chr3_160220422_160233213 | 160223765 | T | TAAAAAAA others(9): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 HG02922.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 410 | 0.0073 | 16 | c.-18 others(27): Show |
C3orf80 | ENSG00000180044.6 | transcript | ENST00000326474.5 | protein_coding | 1656 | chr3 | TogoVar | ||||||
C3orf85_chr3_109131719_109156401 | 109137637 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 370 | 0.0027 | 16 | c.49+ others(29): Show |
C3orf85 | ENSG00000241224.8 | transcript | ENST00000622536.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C3orf85_chr3_109131719_109156401 | 109137637 | G | GTGTATAT others(9): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01943.hp1 NA19082.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032 | 3 | 370 | 0.0081 | 16 | c.49+ others(29): Show |
C3orf85 | ENSG00000241224.8 | transcript | ENST00000622536.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C3orf85_chr3_109131719_109156401 | 109137637 | G | GTGTGTAT others(9): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG01167.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0001a0002c0003t0002 | a0001c0001t0002g0006a0001c0001t0002g0024a0001c0001t0002g0063others(9): Show | 30 | 370 | 0.0811 | 16 | c.49+ others(29): Show |
C3orf85 | ENSG00000241224.8 | transcript | ENST00000622536.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C4BPA_chr1_207099233_207149972 | 207118213 | G | GTCTATCT others(9): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01346.hp2 HG01361.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0009others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0009t0001others(1): Show | a0001c0001t0001g0018a0001c0001t0001g0024a0001c0001t0001g0032others(9): Show | 15 | 342 | 0.0439 | 16 | c.428 others(33): Show |
C4BPA | ENSG00000123838.11 | transcript | ENST00000367070.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C4orf17_chr4_99506021_99547303 | 99506648 | G | GTCTTTCT others(9): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 NA19081.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0302a0002c0003t0001g0311 | 2 | 386 | 0.0052 | 16 | c.-47 others(27): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 4372 | chr4 | TogoVar | ||||||
C4orf17_chr4_99506021_99547303 | 99506652 | G | GTCTGTCT others(9): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02818.hp1 others(1): Show |
a0002a0004 | a0002c0004a0004c0005 | a0002c0004t0001a0004c0005t0001 | a0002c0004t0001g0252a0002c0004t0001g0265a0002c0004t0001g0267others(1): Show | 4 | 386 | 0.0104 | 16 | c.-47 others(27): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 4368 | chr4 | TogoVar | ||||||
C4orf17_chr4_99506021_99547303 | 99506652 | G | GTCTGTCT others(9): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0028a0002c0004t0001g0263 | 2 | 386 | 0.0052 | 16 | c.-47 others(27): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 4368 | chr4 | TogoVar | ||||||
C4orf17_chr4_99506021_99547303 | 99506652 | G | GTCTTTCT others(9): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG02040.hp2 HG02717.hp2 others(11): Show |
a0001a0003a0006 | a0001c0001a0003c0002a0006c0010 | a0001c0001t0001a0003c0002t0001a0006c0010t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0014others(8): Show | 14 | 386 | 0.0363 | 16 | c.-47 others(27): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 4368 | chr4 | TogoVar | ||||||
C4orf17_chr4_99506021_99547303 | 99518544 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0092 | 1 | 386 | 0.0026 | 16 | c.128 others(33): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37481464 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01358.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0141a0001c0001t0014g0013 | 2 | 354 | 0.0057 | 16 | c.-73 others(35): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37538067 | T | TCACACAC others(9): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0339 | 1 | 354 | 0.0028 | 16 | c.-72 others(35): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37564955 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01175.hp2 HG02145.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0110a0001c0001t0003g0084a0001c0001t0005g0028others(8): Show | 11 | 354 | 0.0311 | 16 | c.-23 others(33): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37596709 | C | CATATATA others(9): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG02080.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0064a0001c0001t0001g0101a0001c0001t0001g0124others(9): Show | 12 | 354 | 0.0339 | 16 | c.*57 others(27): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3200 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37598078 | A | AATATATA others(9): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG01168.hp2 HG01169.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0023 | a0001c0001t0002g0233a0001c0001t0002g0297a0001c0001t0003g0081others(2): Show | 5 | 354 | 0.0141 | 16 | c.*70 others(27): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 4569 | chr4 | TogoVar | ||||||
C4orf33_chr4_129091152_129121637 | 129115801 | A | AATATATA others(9): Show |
3_prime_UTR_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0037 | a0002c0002t0037g0025 | 1 | 396 | 0.0025 | 16 | c.*40 others(27): Show |
C4orf33 | ENSG00000151470.13 | transcript | ENST00000425929.6 | protein_coding | 6/6 | 4040 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
C4orf36_chr4_86871205_86897422 | 86890179 | A | AAGGAAAG others(9): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0107 | 1 | 386 | 0.0026 | 16 | c.65+ others(31): Show |
C4orf36 | ENSG00000163633.12 | transcript | ENST00000295898.8 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
C4orf45_chr4_158888134_159040229 | 158911347 | C | CAAATAAA others(9): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01884.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0058a0001c0001t0001g0060a0001c0001t0001g0070others(16): Show | 19 | 264 | 0.0720 | 16 | c.546 others(33): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
C4orf45_chr4_158888134_159040229 | 158930191 | G | GTCTCTCT others(9): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01891.hp1 HG02145.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0018a0001c0001t0001g0058a0001c0001t0001g0155others(6): Show | 9 | 264 | 0.0341 | 16 | c.357 others(35): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
C4orf45_chr4_158888134_159040229 | 159017356 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 264 | 0.0038 | 16 | c.64+ others(33): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
C4orf45_chr4_158888134_159040229 | 159017356 | T | TACACATA others(9): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158a0001c0001t0001g0184 | 2 | 264 | 0.0076 | 16 | c.64+ others(33): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
C4orf46_chr4_158661675_158676887 | 158670023 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01884.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 6 | 370 | 0.0162 | 16 | c.187 others(31): Show |
C4orf46 | ENSG00000205208.5 | transcript | ENST00000379205.5 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
C4orf47_chr4_185421254_185454826 | 185443342 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00741.hp2 NA18945.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0142a0001c0001t0001g0190 | 4 | 358 | 0.0112 | 16 | c.715 others(33): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf47_chr4_185421254_185454826 | 185443342 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG01099.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0103a0001c0001t0006g0295 | 2 | 358 | 0.0056 | 16 | c.715 others(33): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf47_chr4_185421254_185454826 | 185443342 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0223 | 1 | 358 | 0.0028 | 16 | c.715 others(33): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf47_chr4_185421254_185454826 | 185443342 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG01884.hp1 NA19240.hp2 |
a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0030 | 2 | 358 | 0.0056 | 16 | c.715 others(33): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf48_chr4_2036995_2048964 | 2038237 | G | GTGTGTGT others(9): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 392 | 0.0026 | 16 | c.-38 others(27): Show |
C4orf48 | ENSG00000243449.8 | transcript | ENST00000409248.10 | protein_coding | 3757 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 5987412 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01346.hp1 HG01361.hp2 others(15): Show |
a0002a0003a0006others(2): Show | a0002c0002a0003c0004a0006c0007others(2): Show | a0002c0002t0000a0003c0004t0000a0006c0007t0000others(2): Show | a0002c0002t0000g0157a0002c0002t0000g0172a0002c0002t0000g0178others(15): Show | 18 | 346 | 0.0520 | 16 | c.369 others(33): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 6/11 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 5995474 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG01109.hp2 NA18959.hp1 |
a0001a0008 | a0001c0001a0008c0006 | a0001c0001t0000a0008c0006t0000 | a0001c0001t0000g0102a0008c0006t0000g0239 | 2 | 346 | 0.0058 | 16 | c.964 others(32): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
C4orf54_chr4_99631529_99662828 | 99643792 | A | ACACACAC others(9): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0146 | 1 | 392 | 0.0026 | 16 | c.*37 others(33): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
C4orf54_chr4_99631529_99662828 | 99643792 | A | ACACACAC others(9): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01943.hp1 HG02004.hp1 others(2): Show |
a0001a0002a0022 | a0001c0001a0002c0002a0022c0027 | a0001c0001t0001a0002c0002t0001a0022c0027t0001 | a0001c0001t0001g0149a0002c0002t0001g0050a0002c0002t0001g0221others(1): Show | 5 | 392 | 0.0128 | 16 | c.*37 others(33): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
C4orf54_chr4_99631529_99662828 | 99648554 | A | AGTGTGTG others(9): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0005 | a0005c0005 | a0005c0005t0030 | a0005c0005t0030g0107 | 1 | 392 | 0.0026 | 16 | c.*36 others(31): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
C5AR2_chr19_47327175_47352329 | 47335771 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0027 | a0002c0002t0027g0097 | 1 | 406 | 0.0025 | 16 | c.-16 others(33): Show |
C5AR2 | ENSG00000134830.6 | transcript | ENST00000595464.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
C5_chr9_120947335_121055275 | 121002316 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0121 | 1 | 276 | 0.0036 | 16 | c.256 others(35): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 20/40 | chr9 | TogoVar | ||||||
C5orf24_chr5_134840968_134864735 | 134850919 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 402 | 0.0025 | 16 | c.-3- others(31): Show |
C5orf24 | ENSG00000181904.9 | transcript | ENST00000394976.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C5orf34_chr5_43481709_43520148 | 43519819 | T | TTGTGTGT others(9): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 340 | 0.0029 | 16 | c.-50 others(27): Show |
C5orf34 | ENSG00000172244.9 | transcript | ENST00000306862.7 | protein_coding | 4672 | chr5 | TogoVar |