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 | 6689374 | T | TCTCTCTC others(10): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0341 | 1 | 370 | 0.0027 | 17 | c.348 others(36): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 27/40 | chr19 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6697041 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01256.hp1 HG01358.hp1 others(2): Show |
a0001a0002 | a0001c0002a0001c0025a0002c0015others(1): Show | a0001c0002t0001a0001c0025t0001a0002c0015t0001others(1): Show | a0001c0002t0001g0172a0001c0025t0001g0236a0002c0015t0001g0309others(2): Show | 5 | 370 | 0.0135 | 17 | c.279 others(34): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 21/40 | chr19 | TogoVar | ||||||
C3orf20_chr3_14670141_14778036 | 14677969 | G | GCCAACTT others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(267): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0009a0001c0021others(23): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(26): Show | a0001c0001t0001g0007a0001c0001t0001g0111a0001c0001t0001g0112others(263): Show | 270 | 380 | 0.7105 | 17 | c.-29 others(36): Show |
C3orf20 | ENSG00000131379.10 | transcript | ENST00000253697.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C3orf20_chr3_14670141_14778036 | 14725195 | G | GCATCTCA others(10): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0245 | 1 | 380 | 0.0026 | 17 | c.156 others(36): Show |
C3orf20 | ENSG00000131379.10 | transcript | ENST00000253697.8 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C3orf33_chr3_155757617_155811278 | 155776759 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03098.hp1 NA18906.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0008 | a0001c0002t0002g0014a0002c0003t0008g0020 | 2 | 406 | 0.0049 | 17 | c.175 others(32): Show |
C3orf33 | ENSG00000174928.16 | transcript | ENST00000340171.7 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
C3orf33_chr3_155757617_155811278 | 155786052 | A | AAAGGAAA others(10): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02055.hp2 HG02258.hp2 others(13): Show |
a0001a0003a0004others(1): Show | a0001c0002a0003c0008a0004c0005others(2): Show | a0001c0002t0002a0003c0008t0002a0004c0005t0004others(2): Show | a0001c0002t0002g0183a0003c0008t0002g0374a0003c0008t0002g0375others(13): Show | 16 | 406 | 0.0394 | 17 | c.175 others(36): Show |
C3orf33 | ENSG00000174928.16 | transcript | ENST00000340171.7 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
C3orf38_chr3_88144959_88162965 | 88155428 | T | TTTATATA others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(233): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(38): Show | 236 | 320 | 0.7375 | 17 | c.376 others(32): Show |
C3orf38 | ENSG00000179021.10 | transcript | ENST00000318887.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C3orf38_chr3_88144959_88162965 | 88162142 | G | GAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 HG03942.hp2 HG04184.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0020others(1): Show | 6 | 320 | 0.0188 | 17 | c.*55 others(28): Show |
C3orf38 | ENSG00000179021.10 | transcript | ENST00000318887.8 | protein_coding | 4178 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185120029 | A | AAAAGAAA others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG00735.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0044a0001c0001t0045others(3): Show | a0001c0001t0029g0370a0001c0001t0029g0371a0001c0001t0029g0372others(7): Show | 10 | 388 | 0.0258 | 17 | c.196 others(36): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185120033 | A | AAAAAAAG others(10): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(205): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(83): Show | a0001c0001t0001g0254a0001c0001t0001g0279a0001c0001t0001g0283others(205): Show | 208 | 388 | 0.5361 | 17 | c.196 others(36): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185120033 | A | AAAGAAAG others(10): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 388 | 0.0026 | 17 | c.196 others(36): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
C3orf80_chr3_160220422_160233213 | 160223765 | T | TAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 NA18962.hp2 NA18986.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 410 | 0.0098 | 17 | c.-18 others(28): Show |
C3orf80 | ENSG00000180044.6 | transcript | ENST00000326474.5 | protein_coding | 1656 | chr3 | TogoVar | ||||||
C4BPA_chr1_207099233_207149972 | 207118224 | T | TATCTATC others(10): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0029 | 1 | 342 | 0.0029 | 17 | c.428 others(34): Show |
C4BPA | ENSG00000123838.11 | transcript | ENST00000367070.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C4orf17_chr4_99506021_99547303 | 99508399 | C | CACTTATG others(10): Show |
upstream_gene_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 386 | 0.0026 | 17 | c.-29 others(28): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 2621 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585222 | A | AGAGGAGA others(10): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0300 | 1 | 354 | 0.0028 | 17 | c.-22 others(34): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37585617 | A | AGAGGGAG others(10): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 354 | 0.0028 | 17 | c.-22 others(34): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011 | a0001c0001t0009g0349a0001c0001t0011g0111 | 2 | 354 | 0.0057 | 17 | c.*57 others(28): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 NA18944.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0193a0001c0001t0007g0266 | 2 | 354 | 0.0057 | 17 | c.*57 others(28): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG01169.hp1 HG01516.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0023a0002c0002t0021 | a0001c0001t0023g0089a0002c0002t0021g0125 | 2 | 354 | 0.0057 | 17 | c.*57 others(28): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37596737 | T | TATATATA others(10): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 HG02080.hp2 NA19070.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0052a0002c0002t0045 | a0001c0001t0001g0010a0001c0001t0001g0158a0001c0001t0001g0296others(2): Show | 5 | 354 | 0.0141 | 17 | c.*57 others(28): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3228 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37598252 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 354 | 0.0028 | 17 | c.*72 others(28): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 4743 | chr4 | TogoVar | ||||||
C4orf46_chr4_158661675_158676887 | 158670023 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0030 | 1 | 370 | 0.0027 | 17 | c.187 others(32): Show |
C4orf46 | ENSG00000205208.5 | transcript | ENST00000379205.5 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
C4orf47_chr4_185421254_185454826 | 185443342 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 358 | 0.0028 | 17 | c.715 others(34): 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(10): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0095a0001c0001t0001g0153a0001c0001t0006g0122others(1): Show | 4 | 358 | 0.0112 | 17 | c.715 others(34): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf47_chr4_185421254_185454826 | 185443921 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071a0001c0001t0001g0087 | 2 | 358 | 0.0056 | 17 | c.715 others(34): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf50_chr4_5954375_6023431 | 5987412 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02083.hp1 HG02135.hp2 others(5): Show |
a0002a0005a0032 | a0002c0002a0005c0005a0032c0034 | a0002c0002t0000a0005c0005t0000a0032c0034t0000 | a0002c0002t0000g0090a0002c0002t0000g0180a0002c0002t0000g0185others(5): Show | 8 | 346 | 0.0231 | 17 | c.369 others(34): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 6/11 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6003874 | G | GGTGATGA others(10): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0156 | 1 | 346 | 0.0029 | 17 | c.963 others(34): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
C5_chr9_120947335_121055275 | 121018646 | G | GGAAAGAA others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(168): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0006a0002c0002others(14): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(16): Show | a0001c0001t0001g0068a0001c0001t0001g0073a0001c0001t0001g0074others(163): Show | 171 | 276 | 0.6196 | 17 | c.150 others(34): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 12/40 | chr9 | TogoVar | ||||||
C5orf46_chr5_147887722_147911538 | 147908963 | C | CACACAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG03239.hp1 HG04228.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0008a0002c0003t0001g0014a0002c0003t0001g0079 | 4 | 452 | 0.0089 | 17 | c.-24 others(28): Show |
C5orf46 | ENSG00000178776.5 | transcript | ENST00000318315.5 | protein_coding | 2426 | chr5 | TogoVar | ||||||
C5orf47_chr5_173984170_174011140 | 173987021 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 382 | 0.0026 | 17 | c.-22 others(28): Show |
C5orf47 | ENSG00000185056.10 | transcript | ENST00000340147.7 | protein_coding | 2148 | chr5 | TogoVar | ||||||
C6_chr5_41137116_41218532 | 41175361 | T | TATGTATG others(10): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 402 | 0.0025 | 17 | c.116 others(36): Show |
C6 | ENSG00000039537.16 | transcript | ENST00000337836.10 | protein_coding | 8/17 | chr5 | TogoVar | ||||||
C6orf132_chr6_42096119_42147620 | 42138850 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0014 | 1 | 364 | 0.0028 | 17 | c.145 others(34): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
C6orf136_chr6_30642133_30658207 | 30645569 | G | GTACCCGA others(10): Show |
upstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 409 | 0.0024 | 17 | c.-16 others(28): Show |
C6orf136 | ENSG00000204564.12 | transcript | ENST00000651131.1 | protein_coding | 1563 | chr6 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40978873 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0338 | 1 | 380 | 0.0026 | 17 | c.216 others(34): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7orf25_chr7_42904273_42917070 | 42912007 | C | CGCTCGAA others(10): Show |
5_prime_UTR_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0011 | 2 | 384 | 0.0052 | 17 | c.-13 others(26): Show |
C7orf25 | ENSG00000136197.14 | transcript | ENST00000350427.5 | protein_coding | 1/2 | 1108 | chr7 | TogoVar | |||||
C7orf50_chr7_992006_1143247 | 1003583 | G | GGGAGTCC others(10): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02451.hp1 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0018 | a0002c0002t0003g0281a0002c0002t0003g0288a0002c0002t0003g0300others(11): Show | 14 | 326 | 0.0429 | 17 | c.324 others(34): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1016422 | C | CCAGCGCA others(10): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0238 | 1 | 326 | 0.0031 | 17 | c.130 others(34): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1016422 | C | CCAGCGCA others(10): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0245a0001c0001t0003g0246a0001c0001t0014g0158others(3): Show | 6 | 326 | 0.0184 | 17 | c.130 others(34): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1016747 | A | ACCAGCGC others(10): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18977.hp2 NA18990.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255a0001c0001t0002g0257a0001c0001t0002g0258others(1): Show | 4 | 326 | 0.0123 | 17 | c.130 others(34): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1135929 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0148 | 1 | 326 | 0.0031 | 17 | c.-2+ others(32): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C7orf57_chr7_48030543_48066297 | 48051754 | C | CTTTCTTT others(10): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0198 | 1 | 404 | 0.0025 | 17 | c.606 others(32): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf57_chr7_48030543_48066297 | 48051758 | C | CTTTCTTT others(10): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0169 | 1 | 404 | 0.0025 | 17 | c.606 others(32): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf57_chr7_48030543_48066297 | 48051817 | C | CTCTTCTC others(10): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0094 | 1 | 404 | 0.0025 | 17 | c.606 others(32): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68331770 | C | CTTTCCTT others(10): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0031 | 1 | 128 | 0.0078 | 17 | c.327 others(32): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68794506 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0042 | 1 | 128 | 0.0078 | 17 | c.154 others(36): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
C8orf74_chr8_10667628_10705590 | 10704003 | T | TAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG01243.hp2 HG01884.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0011 | a0001c0001t0001a0002c0002t0002a0002c0011t0002 | a0001c0001t0001g0091a0002c0002t0002g0008a0002c0002t0002g0048others(8): Show | 11 | 430 | 0.0256 | 17 | c.*35 others(28): Show |
C8orf74 | ENSG00000171060.11 | transcript | ENST00000304519.10 | protein_coding | 3414 | chr8 | TogoVar | ||||||
C8orf89_chr8_73236331_73264530 | 73242681 | A | AGGGGGGG others(10): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 344 | 0.0029 | 17 | c.338 others(34): Show |
C8orf89 | ENSG00000274443.5 | transcript | ENST00000624510.4 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
C9orf152_chr9_110194561_110213159 | 110198893 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | NA18986.hp1 NA19074.hp2 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0008a0001c0001t0003g0005a0001c0001t0003g0149 | 3 | 466 | 0.0064 | 17 | c.*20 others(28): Show |
C9orf152 | ENSG00000188959.10 | transcript | ENST00000400613.5 | protein_coding | 667 | chr9 | TogoVar | ||||||
C9orf152_chr9_110194561_110213159 | 110209887 | A | AGAAAGAG others(10): Show |
upstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 | 1 | 466 | 0.0022 | 17 | c.-23 others(28): Show |
C9orf152 | ENSG00000188959.10 | transcript | ENST00000400613.5 | protein_coding | 1729 | chr9 | TogoVar | ||||||
C9orf78_chr9_129822290_129840275 | 129824634 | A | AATAATAA others(10): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007 | 1 | 386 | 0.0026 | 17 | c.*35 others(28): Show |
C9orf78 | ENSG00000136819.15 | transcript | ENST00000372447.7 | protein_coding | 2655 | chr9 | TogoVar |