view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C2CD5_chr12_22443583_22549542 | 22527331 | T | TATATATA | intron_variant | MODIFIER | HG02145.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0012 | a0001c0001t0011g0036 a0001c0001t0012g0037 |
2 | 166 | 0.0120 | 7 | c.349 others(22): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 4/26 | chr12 | TogoVar | |||||||
C2CD6_chr2_201482421_201624178 | 201530961 | G | GTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(124): Show |
a0001a0002a0007others(9): Show | a0001c0001a0001c0016a0002c0002others(10): Show | a0001c0001t0001a0001c0016t0001a0002c0002t0001others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0014 others(124): Show |
127 | 213 | 0.5962 | 7 | c.150 others(26): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 13/15 | chr2 | TogoVar | |||||||
C2orf42_chr2_70144885_70196019 | 70193147 | G | GCCTTTTT | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00741.hp1 others(49): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0005t0001others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0029 others(47): Show |
52 | 344 | 0.1512 | 7 | c.-24 others(18): Show |
C2orf42 | ENSG00000115998.8 | transcript | ENST00000264434.7 | protein_coding | 2129 | chr2 | TogoVar | |||||||
C2orf81_chr2_74409177_74426619 | 74409769 | A | ATTTATTT | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02145.hp1 others(18): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0004 a0002c0003t0001g0007 a0002c0003t0001g0065 others(1): Show |
21 | 400 | 0.0525 | 7 | c.*45 others(18): Show |
C2orf81 | ENSG00000284308.2 | transcript | ENST00000684111.1 | protein_coding | 4407 | chr2 | TogoVar | |||||||
C3AR1_chr12_8051844_8071359 | 8064689 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00639.hp1 others(79): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0050 a0001c0001t0001g0155 a0001c0001t0001g0159 others(30): Show |
82 | 369 | 0.2222 | 7 | c.-11 others(24): Show |
C3AR1 | ENSG00000171860.5 | transcript | ENST00000307637.5 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
C3_chr19_6672704_6725650 | 6697046 | A | AAAAAAAT | intron_variant | MODIFIER | HG01934.hp1 HG02109.hp2 HG02145.hp1 others(13): Show |
a0001 | a0001c0011a0001c0019a0001c0055others(2): Show | a0001c0011t0001a0001c0019t0001a0001c0055t0001others(2): Show | a0001c0011t0001g0011 a0001c0011t0001g0013 a0001c0011t0001g0016 others(11): Show |
16 | 366 | 0.0437 | 7 | c.279 others(24): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 21/40 | chr19 | TogoVar | |||||||
C3_chr19_6672704_6725650 | 6700332 | C | CATGTAAT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(120): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(24): Show | a0001c0001t0001g0143 a0001c0001t0001g0174 a0001c0001t0001g0189 others(119): Show |
123 | 368 | 0.3342 | 7 | c.244 others(26): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 19/40 | chr19 | TogoVar | |||||||
C3orf20_chr3_14670141_14778036 | 14720021 | G | GTTTTGTT | intron_variant | MODIFIER | NA18953.hp1 NA18970.hp2 NA18982.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0246 a0002c0002t0001g0336 a0002c0002t0001g0340 others(1): Show |
4 | 377 | 0.0106 | 7 | c.143 others(26): Show |
C3orf20 | ENSG00000131379.10 | transcript | ENST00000253697.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
C3orf33_chr3_155757617_155811278 | 155793809 | C | CAAAAAAA | intron_variant | MODIFIER | HG01258.hp1 HG01515.hp1 HG01517.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0079 a0001c0002t0002g0122 a0001c0002t0002g0123 others(7): Show |
10 | 239 | 0.0418 | 7 | c.174 others(24): Show |
C3orf33 | ENSG00000174928.16 | transcript | ENST00000340171.7 | protein_coding | 2/4 | chr3 | TogoVar | |||||||
C3orf33_chr3_155757617_155811278 | 155800610 | C | CAAAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01167.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0082 a0001c0001t0001g0188 a0001c0001t0001g0189 others(17): Show |
21 | 73 | 0.2877 | 7 | c.174 others(24): Show |
C3orf33 | ENSG00000174928.16 | transcript | ENST00000340171.7 | protein_coding | 2/4 | chr3 | TogoVar | |||||||
C3orf70_chr3_185071838_185158060 | 185073970 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01358.hp2 HG01433.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0014a0001c0001t0023a0001c0001t0025others(10): Show | a0001c0001t0014g0358 a0001c0001t0023g0031 a0001c0001t0025g0338 others(15): Show |
18 | 142 | 0.1268 | 7 | c.*90 others(18): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 2867 | chr3 | TogoVar | |||||||
C3orf70_chr3_185071838_185158060 | 185113285 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG00735.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0014a0001c0001t0089others(2): Show | a0001c0001t0011g0350 a0001c0001t0011g0351 a0001c0001t0011g0352 others(8): Show |
11 | 50 | 0.2200 | 7 | c.197 others(26): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
C3orf70_chr3_185071838_185158060 | 185113285 | C | CAAAAGAA | intron_variant | MODIFIER | HG01891.hp1 HG02647.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0083a0001c0001t0084 | a0001c0001t0028g0025 a0001c0001t0028g0328 a0001c0001t0083g0024 others(1): Show |
4 | 43 | 0.0930 | 7 | c.197 others(26): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
C3orf85_chr3_109131719_109156401 | 109133533 | C | CTTTTTCT | upstream_gene_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG02647.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0018 a0001c0001t0002g0027 a0001c0001t0002g0056 others(7): Show |
17 | 364 | 0.0467 | 7 | c.-32 others(18): Show |
C3orf85 | ENSG00000241224.8 | transcript | ENST00000622536.6 | protein_coding | 3185 | chr3 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37572055 | T | TTTTTTTC | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02451.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0025a0001c0001t0027 | a0001c0001t0009g0002 a0001c0001t0009g0181 a0001c0001t0009g0346 others(4): Show |
8 | 327 | 0.0245 | 7 | c.-23 others(26): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37572056 | T | TCTTTTTC | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00642.hp1 others(32): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0110 a0001c0001t0001g0209 a0001c0001t0001g0212 others(30): Show |
35 | 350 | 0.1000 | 7 | c.-23 others(26): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37596737 | T | TATATATA | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02109.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0018a0001c0001t0020others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0187 a0001c0001t0018g0010 others(3): Show |
6 | 309 | 0.0194 | 7 | c.*57 others(18): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3228 | chr4 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37598252 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00642.hp1 HG02723.hp2 HG02970.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(3): Show | a0001c0001t0002g0203 a0001c0001t0002g0253 a0001c0001t0007g0317 others(4): Show |
7 | 110 | 0.0636 | 7 | c.*72 others(18): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 4743 | chr4 | TogoVar | |||||||
C4orf45_chr4_158888134_159040229 | 158943858 | C | CTTTCTTT | intron_variant | MODIFIER | HG01884.hp2 HG01981.hp2 HG02257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0197 others(4): Show |
7 | 80 | 0.0875 | 7 | c.356 others(26): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
C4orf45_chr4_158888134_159040229 | 158943858 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(123): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0003c0004others(4): Show | a0001c0001t0001a0001c0001t0005a0002c0003t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(121): Show |
126 | 199 | 0.6332 | 7 | c.356 others(26): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
C4orf45_chr4_158888134_159040229 | 158977600 | C | CTTTTTTT | intron_variant | MODIFIER | HG01123.hp2 HG01952.hp2 HG01978.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0006 a0001c0001t0001g0110 a0001c0001t0001g0123 others(7): Show |
10 | 78 | 0.1282 | 7 | c.65- others(22): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
C4orf45_chr4_158888134_159040229 | 158979789 | G | GTTTTTTT | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp2 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 others(2): Show |
5 | 15 | 0.3333 | 7 | c.65- others(22): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 5987412 | C | CAAAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00639.hp2 others(56): Show |
a0001a0005a0006others(12): Show | a0001c0001a0001c0084a0001c0106others(14): Show | a0001c0001t0001a0001c0084t0001a0001c0106t0001others(14): Show | a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0033 others(53): Show |
59 | 176 | 0.3352 | 7 | c.369 others(24): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 6/11 | chr4 | TogoVar | |||||||
C4orf54_chr4_99631529_99662828 | 99660485 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00735.hp2 others(39): Show |
a0001a0003a0005others(4): Show | a0001c0001a0003c0003a0005c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(11): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0023 others(27): Show |
42 | 117 | 0.3590 | 7 | c.-30 others(18): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2658 | chr4 | TogoVar | |||||||
C5AR2_chr19_47327175_47352329 | 47335771 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00733.hp1 others(89): Show |
a0001a0003a0004 | a0001c0001a0001c0008a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0019 others(66): Show |
92 | 115 | 0.8000 | 7 | c.-16 others(24): Show |
C5AR2 | ENSG00000134830.6 | transcript | ENST00000595464.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
C5_chr9_120947335_121055275 | 121041297 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(46): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0006a0001c0024others(9): Show | a0001c0001t0001a0001c0006t0001a0001c0024t0001others(10): Show | a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0079 others(46): Show |
49 | 94 | 0.5213 | 7 | c.421 others(24): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 3/40 | chr9 | TogoVar | |||||||
C5orf15_chr5_133950510_133973625 | 133958576 | C | CAAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0097 a0001c0001t0001g0098 others(3): Show |
7 | 205 | 0.0341 | 7 | c.666 others(22): Show |
C5orf15 | ENSG00000113583.8 | transcript | ENST00000231512.5 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
C5orf34_chr5_43481709_43520148 | 43512704 | C | CCACATTT | intron_variant | MODIFIER | HG01167.hp2 HG01884.hp1 HG01891.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0125 a0001c0001t0001g0126 others(12): Show |
18 | 338 | 0.0533 | 7 | c.-37 others(24): Show |
C5orf34 | ENSG00000172244.9 | transcript | ENST00000306862.7 | protein_coding | 1/12 | chr5 | TogoVar | |||||||
C5orf46_chr5_147887722_147911538 | 147908963 | C | CACACAAA | upstream_gene_variant | MODIFIER | HG02132.hp1 HG02145.hp1 HG02257.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0001a0002c0003t0001a0002c0004t0001 | a0001c0001t0001g0026 a0001c0001t0001g0106 a0001c0001t0001g0107 others(5): Show |
11 | 285 | 0.0386 | 7 | c.-24 others(18): Show |
C5orf46 | ENSG00000178776.5 | transcript | ENST00000318315.5 | protein_coding | 2426 | chr5 | TogoVar | |||||||
C6_chr5_41137116_41218532 | 41200891 | G | GTTTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01517.hp1 HG01891.hp1 others(5): Show |
a0002a0004 | a0002c0002a0004c0008 | a0002c0002t0001a0004c0008t0001 | a0002c0002t0001g0005 a0002c0002t0001g0029 a0002c0002t0001g0159 others(4): Show |
8 | 100 | 0.0800 | 7 | c.300 others(22): Show |
C6 | ENSG00000039537.16 | transcript | ENST00000337836.10 | protein_coding | 3/17 | chr5 | TogoVar | |||||||
C6_chr5_41137116_41218532 | 41211318 | C | CATGGCAT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(170): Show |
a0001a0005a0010others(7): Show | a0001c0001a0001c0006a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 others(134): Show |
173 | 400 | 0.4325 | 7 | c.-21 others(24): Show |
C6 | ENSG00000039537.16 | transcript | ENST00000337836.10 | protein_coding | 1/17 | chr5 | TogoVar | |||||||
C6orf132_chr6_42096119_42147620 | 42146137 | A | AAAAAAAG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(111): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0050a0002c0002others(17): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0022others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0063 others(106): Show |
114 | 168 | 0.6786 | 7 | c.-36 others(18): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 3518 | chr6 | TogoVar | |||||||
C6orf141_chr6_49545668_49557095 | 49555513 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00408.hp2 HG02027.hp2 HG02738.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0000 a0001c0001t0006g0000 |
12 | 40 | 0.3000 | 7 | c.*39 others(18): Show |
C6orf141 | ENSG00000197261.12 | transcript | ENST00000529246.4 | protein_coding | 3419 | chr6 | TogoVar | |||||||
C6orf52_chr6_10666422_10699616 | 10694260 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG02055.hp2 HG02155.hp2 others(10): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0002a0003c0004t0002 | a0002c0003t0002g0008 a0002c0003t0002g0052 a0002c0003t0002g0053 others(6): Show |
13 | 245 | 0.0531 | 7 | c.-12 others(22): Show |
C6orf52 | ENSG00000137434.12 | transcript | ENST00000259983.8 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
C6orf89_chr6_36880952_36933964 | 36889582 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(88): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0003a0001c0002t0005others(14): Show | a0001c0001t0002g0079 a0001c0002t0003g0002 a0001c0002t0003g0008 others(55): Show |
91 | 357 | 0.2549 | 7 | c.-12 others(26): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40978873 | A | ATTTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01175.hp1 others(9): Show |
a0003a0006a0007 | a0003c0003a0006c0006a0006c0016others(1): Show | a0003c0003t0003a0006c0006t0004a0006c0016t0004others(1): Show | a0003c0003t0003g0349 a0003c0003t0003g0355 a0006c0006t0004g0073 others(9): Show |
12 | 124 | 0.0968 | 7 | c.216 others(24): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7orf31_chr7_25129692_25185354 | 25166233 | C | CTTTTTTT | intron_variant | MODIFIER | HG01169.hp2 HG01256.hp2 HG02735.hp2 others(4): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0011 | a0001c0001t0001a0001c0001t0016a0002c0002t0012others(1): Show | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 others(4): Show |
7 | 87 | 0.0805 | 7 | c.311 others(24): Show |
C7orf31 | ENSG00000153790.12 | transcript | ENST00000283905.8 | protein_coding | 3/9 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016422 | C | CCAGCGCA | intron_variant | MODIFIER | HG01192.hp2 HG03130.hp2 NA18963.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0277 others(1): Show |
4 | 263 | 0.0152 | 7 | c.130 others(24): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016442 | C | CCAGCGCA | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp2 HG01074.hp2 others(39): Show |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0002g0213 a0001c0001t0003g0247 a0001c0001t0003g0293 others(39): Show |
42 | 324 | 0.1296 | 7 | c.130 others(24): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016591 | C | CACAGCAG | intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG02970.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0304 others(4): Show |
7 | 298 | 0.0235 | 7 | c.130 others(24): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016821 | A | ACCAGCAC | intron_variant | MODIFIER | HG01081.hp2 HG02451.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0100 a0001c0001t0003g0205 a0001c0001t0003g0206 others(4): Show |
7 | 304 | 0.0230 | 7 | c.130 others(24): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016869 | G | GCAGGACA | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG02451.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0100 a0001c0001t0003g0205 a0001c0001t0003g0206 others(7): Show |
10 | 274 | 0.0365 | 7 | c.130 others(24): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1034792 | T | TCCTCCCA | intron_variant | MODIFIER | HG01934.hp1 HG02083.hp1 HG02132.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0021others(1): Show | a0001c0001t0001g0029 a0001c0001t0004g0176 a0001c0001t0004g0177 others(23): Show |
26 | 323 | 0.0805 | 7 | c.130 others(26): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1095048 | A | AGGCTCAC | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG01496.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0021 | a0001c0001t0006g0081 a0001c0001t0006g0082 a0001c0001t0006g0087 others(4): Show |
7 | 324 | 0.0216 | 7 | c.129 others(26): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C8A_chr1_56849797_56923223 | 56911065 | G | GTTTTTTT | intron_variant | MODIFIER | HG01123.hp2 HG01943.hp1 HG01975.hp1 others(14): Show |
a0003a0005a0008others(2): Show | a0003c0003a0005c0005a0008c0007others(2): Show | a0003c0003t0002a0005c0005t0002a0008c0007t0004others(2): Show | a0003c0003t0002g0040 a0003c0003t0002g0088 a0003c0003t0002g0100 others(13): Show |
17 | 112 | 0.1518 | 7 | c.138 others(26): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68331771 | T | TTTCCTTC | intron_variant | MODIFIER | HG01346.hp2 HG02055.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0015 a0002c0004t0001g0014 |
2 | 126 | 0.0159 | 7 | c.327 others(22): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68548276 | A | ATTTTATC | intron_variant | MODIFIER | HG02809.hp1 HG02886.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0005t0003 | a0001c0001t0003g0061 a0001c0005t0003g0079 |
2 | 126 | 0.0159 | 7 | c.110 others(28): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 7/13 | chr8 | TogoVar | |||||||
C8orf58_chr8_22594599_22609142 | 22599209 | C | CCTCCCCT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(84): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 others(13): Show |
87 | 330 | 0.2636 | 7 | c.-51 others(16): Show |
C8orf58 | ENSG00000241852.11 | transcript | ENST00000289989.10 | protein_coding | 389 | chr8 | TogoVar | |||||||
C9orf40_chr9_74941583_74957912 | 74955139 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp2 others(38): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 others(4): Show |
41 | 256 | 0.1602 | 7 | c.-25 others(18): Show |
C9orf40 | ENSG00000135045.7 | transcript | ENST00000376854.6 | protein_coding | 2228 | chr9 | TogoVar | |||||||
C9orf43_chr9_113405747_113434690 | 113419619 | G | GAGTTATA | intron_variant | MODIFIER | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
a0003 | a0003c0003a0003c0011 | a0003c0003t0002a0003c0011t0002 | a0003c0003t0002g0006 a0003c0003t0002g0081 a0003c0011t0002g0006 |
8 | 308 | 0.0260 | 7 | c.345 others(22): Show |
C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4/13 | chr9 | TogoVar |