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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C2CD3_chr11_74007718_74176002 | 74053885 | AGGCAGGA others(6): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01884.hp1 HG01884.hp2 others(51): Show |
a0004a0006a0007others(8): Show | a0004c0004a0006c0008a0006c0012others(11): Show | a0004c0004t0001a0006c0008t0001a0006c0012t0001others(11): Show | a0004c0004t0001g0032a0004c0004t0001g0033a0004c0004t0001g0034others(50): Show | 54 | 318 | 0.1698 | -13 | c.515 others(30): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 26/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74054507 | GAAAAAAA others(6): Show |
G | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 318 | 0.0031 | -13 | c.515 others(28): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 26/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74156459 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0020 | 1 | 318 | 0.0031 | -13 | c.483 others(30): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
C2CD5_chr12_22443583_22549542 | 22452690 | TAAACTAT others(6): Show |
T | intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0171 | 1 | 200 | 0.0050 | -13 | c.302 others(32): Show |
C2CD5 | ENSG00000111731.13 | transcript | ENST00000446597.6 | protein_coding | 26/26 | chr12 | TogoVar | ||||||
C2CD6_chr2_201482421_201624178 | 201515201 | AGTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02895.hp2 HG02897.hp2 |
a0004 | a0004c0004a0004c0005 | a0004c0004t0001a0004c0005t0001 | a0004c0004t0001g0059a0004c0005t0001g0262a0004c0005t0001g0263 | 3 | 270 | 0.0111 | -13 | c.150 others(34): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 13/15 | chr2 | TogoVar | ||||||
C2CD6_chr2_201482421_201624178 | 201515202 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01515.hp2 HG02004.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0184a0002c0002t0001g0213a0002c0002t0001g0233others(2): Show | 5 | 270 | 0.0185 | -13 | c.150 others(34): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 13/15 | chr2 | TogoVar | ||||||
C2CD6_chr2_201482421_201624178 | 201528120 | TCAAAAGA others(6): Show |
T | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 270 | 0.0037 | -13 | c.150 others(32): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 13/15 | chr2 | TogoVar | ||||||
C2CD6_chr2_201482421_201624178 | 201581511 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG02886.hp2 NA19068.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0065a0002c0002t0001g0254 | 2 | 270 | 0.0074 | -13 | c.639 others(28): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 5/15 | chr2 | TogoVar | ||||||
C2orf15_chr2_99136707_99156669 | 99136798 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG03209.hp1 HG03486.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0038a0001c0001t0004g0142 | 3 | 414 | 0.0073 | -13 | c.-54 others(24): Show |
C2orf15 | ENSG00000273045.7 | transcript | ENST00000650052.2 | protein_coding | 4908 | chr2 | TogoVar | ||||||
C2orf68_chr2_85600254_85617066 | 85613494 | AAAAAACA others(6): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00609.hp1 others(87): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0013others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0010a0001c0001t0002g0011others(10): Show | 90 | 376 | 0.2394 | -13 | c.-15 others(24): Show |
C2orf68 | ENSG00000168887.11 | transcript | ENST00000306336.6 | protein_coding | 1429 | chr2 | TogoVar | ||||||
C2orf74_chr2_61157188_61169828 | 61168457 | ACACACAC others(6): Show |
A | downstream_gene_variant | MODIFIER | HG02818.hp2 HG04115.hp2 NA18906.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003a0002c0002t0001g0004 | 3 | 422 | 0.0071 | -13 | c.*39 others(24): Show |
C2orf74 | ENSG00000237651.8 | transcript | ENST00000432605.3 | protein_coding | 3630 | chr2 | TogoVar | ||||||
C2orf76_chr2_119297225_119371834 | 119340789 | CACACACA others(6): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 | 1 | 354 | 0.0028 | -13 | c.-12 others(28): Show |
C2orf76 | ENSG00000186132.15 | transcript | ENST00000334816.12 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
C2orf92_chr2_97664713_97708066 | 97705650 | ATTTTTTT others(6): Show |
A | downstream_gene_variant | MODIFIER | NA19086.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0044 | 1 | 310 | 0.0032 | -13 | c.*28 others(24): Show |
C2orf92 | ENSG00000228486.11 | transcript | ENST00000627399.4 | protein_coding | 2585 | chr2 | TogoVar | ||||||
C3AR1_chr12_8051844_8071359 | 8062949 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0076 | 1 | 424 | 0.0024 | -13 | c.-10 others(30): Show |
C3AR1 | ENSG00000171860.5 | transcript | ENST00000307637.5 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6717838 | TTGCATTG others(6): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01099.hp1 others(13): Show |
a0001a0008 | a0001c0001a0001c0006a0001c0008others(5): Show | a0001c0001t0001a0001c0006t0001a0001c0008t0001others(5): Show | a0001c0001t0001g0228a0001c0001t0001g0229a0001c0001t0001g0230others(13): Show | 16 | 370 | 0.0432 | -13 | c.504 others(28): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 4/40 | chr19 | TogoVar | ||||||
C3orf20_chr3_14670141_14778036 | 14760606 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 380 | 0.0026 | -13 | c.235 others(30): Show |
C3orf20 | ENSG00000131379.10 | transcript | ENST00000253697.8 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C3orf22_chr3_126544692_126563932 | 126558000 | CTGTCAGG others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(381): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0012others(100): Show | 384 | 408 | 0.9412 | -13 | c.-41 others(28): Show |
C3orf22 | ENSG00000180697.9 | transcript | ENST00000318225.3 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
C3orf33_chr3_155757617_155811278 | 155800610 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0249 | 1 | 406 | 0.0025 | -13 | c.174 others(30): Show |
C3orf33 | ENSG00000174928.16 | transcript | ENST00000340171.7 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185091953 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02074.hp1 NA18965.hp1 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0074a0001c0001t0087a0001c0001t0088 | a0001c0001t0074g0102a0001c0001t0087g0052a0001c0001t0088g0232 | 3 | 388 | 0.0077 | -13 | c.197 others(30): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185091955 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01261.hp2 HG01346.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0190a0001c0001t0001g0199a0001c0001t0001g0207others(14): Show | 17 | 388 | 0.0438 | -13 | c.197 others(30): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185091957 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02280.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0097 | a0001c0001t0003g0049a0001c0001t0097g0242 | 2 | 388 | 0.0052 | -13 | c.197 others(30): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
C4BPA_chr1_207099233_207149972 | 207119824 | GTGGTTGT others(6): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(183): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0019others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(169): Show | 186 | 342 | 0.5439 | -13 | c.429 others(30): Show |
C4BPA | ENSG00000123838.11 | transcript | ENST00000367070.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C4orf17_chr4_99506021_99547303 | 99518485 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0271 | 1 | 386 | 0.0026 | -13 | c.128 others(30): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf17_chr4_99506021_99547303 | 99518507 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0243 | 1 | 386 | 0.0026 | -13 | c.128 others(30): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37456069 | TTTCTTTT others(6): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0350a0001c0001t0005g0007others(4): Show | 7 | 354 | 0.0198 | -13 | c.-73 others(30): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37481464 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00323.hp1 NA19068.hp1 NA20805.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0014a0002c0002t0043 | a0001c0001t0003g0150a0001c0001t0014g0149a0002c0002t0043g0292 | 3 | 354 | 0.0085 | -13 | c.-73 others(32): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37596734 | ATATTTTT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG03471.hp1 HG03540.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0033 | a0001c0001t0022g0031a0001c0001t0022g0264a0001c0001t0033g0005 | 3 | 354 | 0.0085 | -13 | c.*57 others(24): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3225 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37598252 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00733.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0040a0001c0001t0002g0222a0001c0001t0006g0038others(15): Show | 18 | 354 | 0.0509 | -13 | c.*72 others(24): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 4743 | chr4 | TogoVar | ||||||
C4orf47_chr4_185421254_185454826 | 185426879 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02083.hp2 HG02109.hp1 HG02109.hp2 others(6): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0001c0001t0002a0006c0011t0001 | a0001c0001t0001g0306a0001c0001t0001g0307a0001c0001t0001g0308others(6): Show | 9 | 358 | 0.0251 | -13 | c.-79 others(28): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf47_chr4_185421254_185454826 | 185443921 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG02257.hp1 HG02615.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0010a0003c0003 | a0001c0001t0001a0001c0010t0001a0003c0003t0001 | a0001c0001t0001g0069a0001c0010t0001g0045a0003c0003t0001g0043others(1): Show | 4 | 358 | 0.0112 | -13 | c.715 others(30): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf50_chr4_5954375_6023431 | 5962995 | CTTTTCTT others(6): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02293.hp1 HG02647.hp1 others(6): Show |
a0011a0045a0057others(6): Show | a0011c0012a0045c0049a0057c0062others(6): Show | a0011c0012t0000a0045c0049t0000a0057c0062t0000others(6): Show | a0011c0012t0000g0046a0045c0049t0000g0319a0057c0062t0000g0021others(6): Show | 9 | 346 | 0.0260 | -13 | c.427 others(32): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 11/11 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 5994778 | GCAGGGTC others(6): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01255.hp2 HG01257.hp2 others(38): Show |
a0009a0015a0016others(20): Show | a0009c0009a0015c0015a0016c0016others(21): Show | a0009c0009t0000a0015c0015t0000a0016c0016t0000others(21): Show | a0009c0009t0000g0162a0009c0009t0000g0163a0009c0009t0000g0164others(38): Show | 41 | 346 | 0.1185 | -13 | c.964 others(28): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
C4orf54_chr4_99631529_99662828 | 99656146 | TGAAGAGA others(6): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 NA18906.hp1 |
a0003a0012 | a0003c0003a0012c0014 | a0003c0003t0002a0012c0014t0002 | a0003c0003t0002g0060a0012c0014t0002g0025 | 3 | 392 | 0.0077 | -13 | c.-32 others(30): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 1/2 | chr4 | TogoVar | ||||||
C5AR2_chr19_47327175_47352329 | 47335790 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0093 | a0001c0001t0004g0038a0001c0001t0093g0038 | 2 | 406 | 0.0049 | -13 | c.-16 others(30): Show |
C5AR2 | ENSG00000134830.6 | transcript | ENST00000595464.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
C5orf34_chr5_43481709_43520148 | 43512760 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA18943.hp2 NA19006.hp1 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0193a0001c0001t0001g0194a0001c0001t0011g0179 | 3 | 340 | 0.0088 | -13 | c.-37 others(30): Show |
C5orf34 | ENSG00000172244.9 | transcript | ENST00000306862.7 | protein_coding | 1/12 | chr5 | TogoVar | ||||||
C5orf52_chr5_157666533_157685158 | 157682245 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 418 | 0.0024 | -13 | c.*22 others(24): Show |
C5orf52 | ENSG00000187658.7 | transcript | ENST00000409999.4 | protein_coding | 2088 | chr5 | TogoVar | ||||||
C6orf132_chr6_42096119_42147620 | 42126072 | GTTTTGTT others(6): Show |
G | intron_variant | MODIFIER | HG03239.hp1 NA18522.hp1 |
a0003 | a0003c0003 | a0003c0003t0019a0003c0003t0035 | a0003c0003t0019g0156a0003c0003t0035g0295 | 2 | 364 | 0.0055 | -13 | c.252 others(30): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
C6orf62_chr6_24699861_24724154 | 24713472 | GAAGCAAA others(6): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01361.hp2 HG01891.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0017 | a0001c0001t0005g0012a0001c0001t0005g0018a0001c0001t0005g0027others(15): Show | 27 | 414 | 0.0652 | -13 | c.429 others(28): Show |
C6orf62 | ENSG00000112308.14 | transcript | ENST00000378119.9 | protein_coding | 3/4 | chr6 | TogoVar | ||||||
C6orf89_chr6_36880952_36933964 | 36882721 | TTTTTTCT others(6): Show |
T | upstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 396 | 0.0025 | -13 | c.-34 others(24): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 3230 | chr6 | TogoVar | ||||||
C6orf89_chr6_36880952_36933964 | 36886992 | CAAGACCT others(6): Show |
C | intron_variant | MODIFIER | HG02965.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0221a0001c0001t0026g0222 | 2 | 396 | 0.0051 | -13 | c.-12 others(30): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40968557 | TTATATAT others(6): Show |
T | intron_variant | MODIFIER | HG01884.hp1 NA18522.hp2 |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0011a0006c0006t0018 | a0001c0001t0011g0266a0006c0006t0018g0155 | 2 | 380 | 0.0053 | -13 | c.188 others(32): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40968587 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG03669.hp1 NA18992.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0113a0002c0002t0003g0125 | 2 | 380 | 0.0053 | -13 | c.188 others(32): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40968588 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG03927.hp1 NA19068.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0002c0002t0003 | a0001c0001t0012g0337a0002c0002t0003g0164 | 2 | 380 | 0.0053 | -13 | c.188 others(32): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40968590 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG02027.hp2 HG02056.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0009 | a0002c0002t0003g0181a0002c0002t0003g0199a0002c0002t0003g0311others(6): Show | 9 | 380 | 0.0237 | -13 | c.188 others(32): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40968600 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG03139.hp1 NA18947.hp2 NA19084.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0011a0003c0003t0001 | a0002c0002t0011g0147a0003c0003t0001g0237a0003c0003t0001g0256 | 3 | 380 | 0.0079 | -13 | c.188 others(32): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7orf50_chr7_992006_1143247 | 1016399 | ACAGCAGC others(6): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0298 | 1 | 326 | 0.0031 | -13 | c.130 others(30): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1033275 | GGGCCGGG others(6): Show |
G | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 326 | 0.0031 | -13 | c.130 others(32): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1137205 | TCCCCTGC others(6): Show |
T | intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 326 | 0.0031 | -13 | c.-2+ others(25): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68331783 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG03195.hp2 NA19030.hp1 NA20300.hp1 |
a0001a0004 | a0001c0001a0004c0017a0004c0018 | a0001c0001t0006a0004c0017t0006a0004c0018t0007 | a0001c0001t0006g0127a0004c0017t0006g0128a0004c0018t0007g0126 | 3 | 128 | 0.0234 | -13 | c.327 others(28): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68368375 | TTGGCTCT others(6): Show |
T | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0046 | 1 | 128 | 0.0078 | -13 | c.327 others(32): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |