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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C2CD2_chr21_41880112_41959018 | 41948870 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG01175.hp1 others(25): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0002g0145a0001c0001t0002g0316a0001c0001t0004g0143others(25): Show | 28 | 396 | 0.0707 | 9 | c.279 others(26): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | ||||||
C2orf15_chr2_99136707_99156669 | 99144649 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(121): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(38): Show | 124 | 414 | 0.2995 | 9 | c.-16 others(28): Show |
C2orf15 | ENSG00000273045.7 | transcript | ENST00000650052.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf16_chr2_27532386_27587722 | 27557362 | C | CCGGACGG others(2): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18984.hp2 NA19011.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0293a0002c0002t0001g0294a0002c0002t0001g0302others(1): Show | 4 | 326 | 0.0123 | 9 | c.145 others(26): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf16_chr2_27532386_27587722 | 27586214 | T | TTTGTTGT others(2): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00558.hp1 others(108): Show |
a0001a0004a0006others(18): Show | a0001c0001a0001c0050a0004c0004others(20): Show | a0001c0001t0001a0001c0050t0001a0004c0004t0001others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0031a0001c0001t0001g0034others(107): Show | 111 | 326 | 0.3405 | 9 | c.*36 others(20): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 3493 | chr2 | TogoVar | ||||||
C2orf50_chr2_11128128_11156317 | 11148732 | C | CTTTTTTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01069.hp1 HG01109.hp2 HG01934.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0014a0001c0001t0025a0001c0001t0033others(6): Show | a0001c0001t0014g0035a0001c0001t0014g0178a0001c0001t0014g0201others(9): Show | 13 | 380 | 0.0342 | 9 | c.*46 others(20): Show |
C2orf50 | ENSG00000150873.12 | transcript | ENST00000381585.8 | protein_coding | 3/3 | 4642 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
C2orf80_chr2_208160347_208195030 | 208171733 | G | GCCACTCC others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(283): Show |
a0001a0004a0007 | a0001c0001a0001c0004a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0016others(267): Show | 286 | 342 | 0.8363 | 9 | c.454 others(24): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 7/8 | chr2 | TogoVar | ||||||
C3AR1_chr12_8051844_8071359 | 8064689 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007 | a0001c0001t0003g0059a0001c0001t0004g0058a0001c0001t0004g0145others(3): Show | 9 | 424 | 0.0212 | 9 | c.-11 others(26): Show |
C3AR1 | ENSG00000171860.5 | transcript | ENST00000307637.5 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6697989 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01952.hp2 HG03490.hp1 others(2): Show |
a0001 | a0001c0008a0001c0012a0001c0023 | a0001c0008t0001a0001c0012t0001a0001c0023t0002 | a0001c0008t0001g0170a0001c0008t0001g0351a0001c0012t0001g0002others(1): Show | 5 | 370 | 0.0135 | 9 | c.244 others(26): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 19/40 | chr19 | TogoVar | ||||||
C3orf20_chr3_14670141_14778036 | 14696371 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG00735.hp1 others(16): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(6): Show | a0001c0001t0001g0251a0001c0001t0001g0306a0001c0001t0001g0328others(16): Show | 19 | 380 | 0.0500 | 9 | c.745 others(26): Show |
C3orf20 | ENSG00000131379.10 | transcript | ENST00000253697.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C3orf20_chr3_14670141_14778036 | 14764480 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0250a0001c0001t0001g0255a0001c0001t0001g0270others(33): Show | 36 | 380 | 0.0947 | 9 | c.249 others(28): Show |
C3orf20 | ENSG00000131379.10 | transcript | ENST00000253697.8 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C3orf33_chr3_155757617_155811278 | 155793809 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01123.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0047a0001c0002t0002g0152a0001c0002t0005g0046others(5): Show | 8 | 406 | 0.0197 | 9 | c.174 others(26): Show |
C3orf33 | ENSG00000174928.16 | transcript | ENST00000340171.7 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
C3orf33_chr3_155757617_155811278 | 155800610 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00738.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(34): Show | 37 | 406 | 0.0911 | 9 | c.174 others(26): Show |
C3orf33 | ENSG00000174928.16 | transcript | ENST00000340171.7 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
C3orf80_chr3_160220422_160233213 | 160223765 | T | TAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01192.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 12 | 410 | 0.0293 | 9 | c.-18 others(20): Show |
C3orf80 | ENSG00000180044.6 | transcript | ENST00000326474.5 | protein_coding | 1656 | chr3 | TogoVar | ||||||
C4BPA_chr1_207099233_207149972 | 207106442 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00597.hp2 others(63): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(55): Show | 66 | 342 | 0.1930 | 9 | c.-26 others(26): Show |
C4BPA | ENSG00000123838.11 | transcript | ENST00000367070.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37481464 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01169.hp1 HG01993.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0002g0311a0001c0001t0003g0015a0001c0001t0003g0060others(4): Show | 7 | 354 | 0.0198 | 9 | c.-73 others(28): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37508683 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02486.hp2 HG02723.hp1 others(6): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(3): Show | a0001c0001t0001g0332a0001c0001t0001g0335a0001c0001t0005g0282others(6): Show | 9 | 354 | 0.0254 | 9 | c.-72 others(28): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37571352 | A | ATCCTTTT others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02451.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025a0001c0001t0038 | a0001c0001t0001g0098a0001c0001t0025g0123a0001c0001t0038g0160 | 3 | 354 | 0.0085 | 9 | c.-23 others(28): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37596737 | T | TATATATA others(2): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG02896.hp1 HG02896.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052a0001c0001t0001g0130a0001c0001t0001g0131others(2): Show | 5 | 354 | 0.0141 | 9 | c.*57 others(20): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3228 | chr4 | TogoVar | ||||||
C4orf45_chr4_158888134_159040229 | 159005155 | C | CAGGAGGC others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(161): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0015others(157): Show | 164 | 264 | 0.6212 | 9 | c.64+ others(26): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
C4orf47_chr4_185421254_185454826 | 185436709 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01071.hp1 HG02135.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0035a0001c0001t0001g0141a0001c0001t0001g0201others(1): Show | 4 | 358 | 0.0112 | 9 | c.534 others(24): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf47_chr4_185421254_185454826 | 185436712 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00733.hp1 HG00735.hp2 others(50): Show |
a0001a0002a0005 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0029a0001c0001t0001g0088a0001c0001t0001g0130others(41): Show | 53 | 358 | 0.1480 | 9 | c.534 others(24): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf50_chr4_5954375_6023431 | 5987412 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02055.hp2 HG02559.hp2 others(7): Show |
a0001a0005a0051others(4): Show | a0001c0001a0005c0005a0051c0055others(4): Show | a0001c0001t0000a0005c0005t0000a0051c0055t0000others(4): Show | a0001c0001t0000g0078a0001c0001t0000g0120a0001c0001t0000g0135others(7): Show | 10 | 346 | 0.0289 | 9 | c.369 others(26): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 6/11 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6003860 | G | GTGATGGT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01081.hp2 HG01106.hp1 others(78): Show |
a0001a0005a0009others(44): Show | a0001c0001a0005c0005a0009c0009others(44): Show | a0001c0001t0000a0005c0005t0000a0009c0009t0000others(44): Show | a0001c0001t0000g0015a0001c0001t0000g0032a0001c0001t0000g0078others(77): Show | 81 | 346 | 0.2341 | 9 | c.963 others(26): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6004216 | T | TGATGGTG others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02922.hp1 HG03471.hp1 others(1): Show |
a0001a0022a0038 | a0001c0001a0022c0022a0038c0039 | a0001c0001t0000a0022c0022t0000a0038c0039t0000 | a0001c0001t0000g0159a0001c0001t0000g0218a0022c0022t0000g0065others(1): Show | 4 | 346 | 0.0116 | 9 | c.963 others(26): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6004435 | A | ATGATGAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(20): Show |
a0004a0012a0017others(11): Show | a0004c0003a0012c0017a0017c0020others(11): Show | a0004c0003t0000a0012c0017t0000a0017c0020t0000others(11): Show | a0004c0003t0000g0008a0004c0003t0000g0225a0004c0003t0000g0291others(18): Show | 23 | 346 | 0.0665 | 9 | c.963 others(26): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6004477 | G | GTGGTGGT others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG02486.hp2 others(5): Show |
a0010a0033a0055others(3): Show | a0010c0010a0033c0035a0055c0060others(3): Show | a0010c0010t0000a0033c0035t0000a0055c0060t0000others(3): Show | a0010c0010t0000g0327a0010c0010t0000g0328a0033c0035t0000g0228others(5): Show | 8 | 346 | 0.0231 | 9 | c.963 others(26): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
C4orf54_chr4_99631529_99662828 | 99660485 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01169.hp2 others(19): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0008a0002c0002t0003a0002c0002t0009others(5): Show | a0001c0001t0008g0017a0002c0002t0003g0048a0002c0002t0009g0047others(15): Show | 22 | 392 | 0.0561 | 9 | c.-30 others(20): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2658 | chr4 | TogoVar | ||||||
C5AR2_chr19_47327175_47352329 | 47338656 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(110): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(95): Show | 113 | 406 | 0.2783 | 9 | c.-15 others(26): Show |
C5AR2 | ENSG00000134830.6 | transcript | ENST00000595464.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
C5orf34_chr5_43481709_43520148 | 43501212 | G | GACTATGC others(2): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02970.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115a0001c0001t0001g0202a0001c0001t0001g0203 | 3 | 340 | 0.0088 | 9 | c.115 others(28): Show |
C5orf34 | ENSG00000172244.9 | transcript | ENST00000306862.7 | protein_coding | 6/12 | chr5 | TogoVar | ||||||
C6_chr5_41137116_41218532 | 41191011 | A | AACATGTA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01192.hp1 HG01255.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017a0001c0001t0002g0049a0001c0001t0002g0050others(6): Show | 10 | 402 | 0.0249 | 9 | c.587 others(26): Show |
C6 | ENSG00000039537.16 | transcript | ENST00000337836.10 | protein_coding | 5/17 | chr5 | TogoVar | ||||||
C6orf132_chr6_42096119_42147620 | 42117923 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02293.hp2 HG03834.hp2 NA18950.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0015others(1): Show | a0001c0001t0001a0001c0001t0048a0002c0002t0002others(3): Show | a0001c0001t0001g0063a0001c0001t0048g0142a0002c0002t0002g0115others(9): Show | 12 | 364 | 0.0330 | 9 | c.253 others(26): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
C6orf163_chr6_87339813_87370463 | 87345916 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(85): Show |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0001a0001c0001t0002a0002c0009t0001 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0010others(26): Show | 88 | 436 | 0.2018 | 9 | c.148 others(24): Show |
C6orf163 | ENSG00000203872.7 | transcript | ENST00000388923.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
C6orf62_chr6_24699861_24724154 | 24709490 | T | TTAACTTA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00642.hp2 others(75): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(5): Show | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0025others(42): Show | 78 | 414 | 0.1884 | 9 | c.430 others(24): Show |
C6orf62 | ENSG00000112308.14 | transcript | ENST00000378119.9 | protein_coding | 3/4 | chr6 | TogoVar | ||||||
C6orf89_chr6_36880952_36933964 | 36926593 | A | AGGGGAGG others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01074.hp1 others(26): Show |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0005a0001c0002t0009a0001c0002t0031others(1): Show | a0001c0002t0005g0003a0001c0002t0005g0015a0001c0002t0005g0016others(16): Show | 29 | 396 | 0.0732 | 9 | c.*31 others(20): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 9/9 | 3153 | chr6 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40965648 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01167.hp2 HG01169.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0022a0002c0002t0005 | a0001c0001t0005g0002a0001c0001t0005g0032a0001c0001t0005g0033others(14): Show | 18 | 380 | 0.0474 | 9 | c.188 others(26): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7orf31_chr7_25129692_25185354 | 25148477 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01106.hp2 HG01361.hp1 others(8): Show |
a0001a0007 | a0001c0001a0007c0005 | a0001c0001t0001a0001c0001t0016a0001c0001t0017others(1): Show | a0001c0001t0001g0054a0001c0001t0001g0062a0001c0001t0001g0070others(8): Show | 11 | 416 | 0.0264 | 9 | c.684 others(26): Show |
C7orf31 | ENSG00000153790.12 | transcript | ENST00000283905.8 | protein_coding | 7/9 | chr7 | TogoVar | ||||||
C7orf31_chr7_25129692_25185354 | 25166233 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00735.hp1 HG00738.hp2 others(18): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0010 | a0001c0001t0001a0001c0001t0015a0002c0002t0001others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0045a0001c0001t0001g0055others(14): Show | 21 | 416 | 0.0505 | 9 | c.311 others(26): Show |
C7orf31 | ENSG00000153790.12 | transcript | ENST00000283905.8 | protein_coding | 3/9 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1107771 | C | CTGTGTCC others(2): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02083.hp1 HG02132.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0027a0001c0001t0028 | a0001c0001t0004g0176a0001c0001t0004g0177a0001c0001t0004g0178others(23): Show | 26 | 326 | 0.0798 | 9 | c.129 others(28): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1133409 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02083.hp1 HG02132.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0028 | a0001c0001t0004g0177a0001c0001t0004g0178a0001c0001t0004g0181others(11): Show | 14 | 326 | 0.0429 | 9 | c.-2+ others(24): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C7orf57_chr7_48030543_48066297 | 48051762 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01074.hp2 HG02293.hp2 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0008 | a0001c0002t0001g0139a0001c0002t0001g0141a0001c0002t0001g0162others(13): Show | 16 | 404 | 0.0396 | 9 | c.606 others(24): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C8B_chr1_56924207_56971015 | 56926339 | C | CCCAATTA others(2): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 3 | 402 | 0.0075 | 9 | c.*30 others(20): Show |
C8B | ENSG00000021852.14 | transcript | ENST00000371237.9 | protein_coding | 2867 | chr1 | TogoVar | ||||||
C8G_chr9_136940243_136951975 | 136951022 | G | GGTGGGAG others(2): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(260): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0013others(12): Show | 263 | 416 | 0.6322 | 9 | c.*42 others(20): Show |
C8G | ENSG00000176919.13 | transcript | ENST00000371634.7 | protein_coding | 4048 | chr9 | TogoVar | ||||||
C8G_chr9_136940243_136951975 | 136951025 | G | GGGAGGAG others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(127): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0002t0001g0002others(10): Show | 130 | 416 | 0.3125 | 9 | c.*42 others(20): Show |
C8G | ENSG00000176919.13 | transcript | ENST00000371634.7 | protein_coding | 4051 | chr9 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68331783 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02818.hp2 HG03490.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0097a0001c0001t0001g0115a0001c0001t0003g0114others(1): Show | 4 | 128 | 0.0313 | 9 | c.327 others(24): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf89_chr8_73236331_73264530 | 73256130 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02723.hp2 others(2): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0002a0004c0004t0001 | a0002c0002t0002g0063a0002c0002t0002g0155a0004c0004t0001g0047others(1): Show | 5 | 344 | 0.0145 | 9 | c.281 others(24): Show |
C8orf89 | ENSG00000274443.5 | transcript | ENST00000624510.4 | protein_coding | 2/3 | chr8 | TogoVar | ||||||
C9orf72_chr9_27541546_27578481 | 27573208 | G | GCGCCGCC others(2): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG02109.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018a0001c0001t0003g0052a0001c0001t0003g0267others(3): Show | 10 | 438 | 0.0228 | 9 | c.-45 others(24): Show |
C9orf72 | ENSG00000147894.17 | transcript | ENST00000380003.8 | protein_coding | 1/10 | chr9 | TogoVar | ||||||
C9orf78_chr9_129822290_129840275 | 129824606 | A | AAATAATA others(2): Show |
downstream_gene_variant | MODIFIER | HG03017.hp1 HG03486.hp1 NA18939.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0024a0001c0002t0002g0002a0001c0002t0002g0049others(1): Show | 11 | 386 | 0.0285 | 9 | c.*35 others(20): Show |
C9orf78 | ENSG00000136819.15 | transcript | ENST00000372447.7 | protein_coding | 2683 | chr9 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51734043 | C | CAAGCATC others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(103): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0009a0001c0001t0001g0018a0001c0001t0001g0019others(103): Show | 106 | 156 | 0.6795 | 9 | c.465 others(28): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 4/8 | chr17 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87892510 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | NA18961.hp1 NA18978.hp2 NA19012.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0214a0001c0001t0001g0292a0001c0004t0001g0255 | 3 | 400 | 0.0075 | 9 | c.619 others(24): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87913305 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01167.hp1 HG01243.hp1 others(30): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(6): Show | a0001c0001t0001g0043a0001c0001t0001g0045a0001c0001t0001g0046others(30): Show | 33 | 400 | 0.0825 | 9 | c.341 others(26): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 2/6 | chr16 | TogoVar |