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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP170B_chr14_104860268_104901747 | 104872123 | T | TCGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0146 | 1 | 328 | 0.0031 | 10 | c.105 others(27): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CEP170B_chr14_104860268_104901747 | 104872287 | C | CGCGTGTG others(3): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(164): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0003others(53): Show | a0001c0001t0026a0001c0002t0002a0001c0003t0002others(58): Show | a0001c0001t0026g0264a0001c0002t0002g0002a0001c0002t0002g0005others(142): Show | 167 | 328 | 0.5092 | 10 | c.105 others(27): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CEP170B_chr14_104860268_104901747 | 104872318 | C | CCGTGGGT others(3): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00544.hp1 others(107): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0014others(30): Show | a0001c0002t0002a0001c0003t0002a0001c0003t0020others(34): Show | a0001c0002t0002g0002a0001c0002t0002g0005a0001c0002t0002g0027others(90): Show | 110 | 328 | 0.3354 | 10 | c.105 others(27): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CEP170_chr1_243119428_243260281 | 243159763 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02083.hp2 HG02451.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0003 | a0001c0001t0001g0115a0001c0001t0002g0205a0003c0003t0003g0103others(7): Show | 10 | 303 | 0.0330 | 10 | c.367 others(29): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 13/19 | chr1 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243178308 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02056.hp1 NA18983.hp2 NA19068.hp1 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0002a0001c0001t0010a0001c0015t0001 | a0001c0001t0002g0274a0001c0001t0010g0215a0001c0015t0001g0223 | 3 | 303 | 0.0099 | 10 | c.156 others(29): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 10/19 | chr1 | TogoVar | ||||||
CEP192_chr18_12986362_13130036 | 13000091 | C | CTCTCTTT others(3): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01099.hp1 HG01261.hp1 others(11): Show |
a0002a0027 | a0002c0001a0027c0024 | a0002c0001t0001a0027c0024t0001 | a0002c0001t0001g0022a0002c0001t0001g0322a0002c0001t0001g0323others(10): Show | 14 | 392 | 0.0357 | 10 | c.164 others(25): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 2/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CEP192_chr18_12986362_13130036 | 13066963 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01071.hp2 HG01167.hp1 others(7): Show |
a0005a0009a0015 | a0005c0005a0009c0009a0015c0012 | a0005c0005t0001a0009c0009t0001a0015c0012t0001 | a0005c0005t0001g0116a0005c0005t0001g0125a0005c0005t0001g0127others(7): Show | 10 | 392 | 0.0255 | 10 | c.448 others(27): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 21/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CEP20_chr16_15860719_15893603 | 15882778 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01192.hp1 HG01243.hp2 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004a0002c0002t0013 | a0001c0001t0001g0088a0002c0002t0004g0008a0002c0002t0004g0009others(7): Show | 24 | 433 | 0.0554 | 10 | c.226 others(27): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 2/4 | chr16 | TogoVar | ||||||
CEP20_chr16_15860719_15893603 | 15890556 | C | CAAAAAAA others(3): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG01255.hp2 HG01952.hp1 others(20): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0013 | a0002c0002t0004g0009a0002c0002t0004g0015a0002c0002t0004g0019others(14): Show | 23 | 433 | 0.0531 | 10 | c.-19 others(21): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 1954 | chr16 | TogoVar | ||||||
CEP295_chr11_93656682_93735358 | 93681403 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 354 | 0.0028 | 10 | c.765 others(27): Show |
CEP295 | ENSG00000166004.15 | transcript | ENST00000325212.11 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 179991667 | A | ATATGTGT others(3): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 248 | 0.0040 | 10 | c.236 others(25): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 179991667 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01175.hp2 HG01261.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0005a0002c0002t0007others(2): Show | a0001c0001t0001g0070a0001c0001t0001g0072a0001c0001t0001g0161others(6): Show | 9 | 248 | 0.0363 | 10 | c.236 others(25): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 179991707 | G | GTGTGTAT others(3): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03669.hp1 HG03834.hp1 |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0139a0005c0005t0002g0142a0005c0005t0002g0144 | 3 | 248 | 0.0121 | 10 | c.236 others(25): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 179991707 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02165.hp2 NA18612.hp2 NA18947.hp2 others(5): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0145a0001c0001t0001g0174a0001c0001t0001g0175others(5): Show | 8 | 248 | 0.0323 | 10 | c.236 others(25): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 179991707 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01123.hp1 others(26): Show |
a0001a0004a0014others(1): Show | a0001c0001a0001c0033a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0017a0001c0001t0018others(4): Show | a0001c0001t0001g0071a0001c0001t0001g0073a0001c0001t0001g0150others(26): Show | 29 | 248 | 0.1169 | 10 | c.236 others(25): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180004931 | C | CTTTCTTT others(3): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 248 | 0.0040 | 10 | c.113 others(29): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180007839 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01928.hp2 HG02004.hp2 others(12): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0033a0002c0007others(3): Show | a0001c0001t0001a0001c0033t0001a0002c0007t0002others(3): Show | a0001c0001t0001g0040a0001c0001t0001g0146a0001c0001t0001g0171others(12): Show | 15 | 248 | 0.0605 | 10 | c.124 others(29): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180042132 | T | TCACACAC others(3): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02818.hp1 HG03453.hp2 others(1): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0001a0008c0009t0008 | a0001c0001t0001g0040a0001c0001t0001g0170a0001c0001t0001g0193others(1): Show | 4 | 248 | 0.0161 | 10 | c.436 others(27): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP41_chr7_130388771_130446016 | 130392347 | G | GACACACA others(3): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0219a0001c0001t0001g0252others(15): Show | 20 | 346 | 0.0578 | 10 | c.*65 others(21): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1423 | chr7 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130392388 | A | ACACACAC others(3): Show |
downstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0229 | 1 | 346 | 0.0029 | 10 | c.*65 others(21): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1382 | chr7 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130392391 | C | CACACACA others(3): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01123.hp1 HG04115.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016 | a0001c0001t0004g0184a0001c0001t0004g0198a0001c0001t0004g0299others(1): Show | 4 | 346 | 0.0116 | 10 | c.*64 others(21): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1379 | chr7 | TogoVar | ||||||
CEP43_chr6_166994397_167057718 | 167022259 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02080.hp2 HG02109.hp2 others(13): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0015a0002c0002t0036a0002c0002t0091others(9): Show | a0002c0002t0015g0037a0002c0002t0015g0039a0002c0002t0015g0203others(12): Show | 16 | 376 | 0.0426 | 10 | c.580 others(25): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP43_chr6_166994397_167057718 | 167042814 | T | TTGTGTGT others(3): Show |
3_prime_UTR_variant | MODIFIER | NA18982.hp2 NA18998.hp1 NA19001.hp1 others(8): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0008a0001c0001t0047a0001c0001t0077others(4): Show | a0001c0001t0008g0018a0001c0001t0008g0033a0001c0001t0008g0188others(6): Show | 11 | 376 | 0.0293 | 10 | c.*28 others(21): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 13/13 | 2862 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
CEP44_chr4_174278911_174325328 | 174291782 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02970.hp1 HG03486.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0013 | a0002c0002t0004g0024a0002c0002t0004g0079a0002c0002t0004g0080others(5): Show | 9 | 388 | 0.0232 | 10 | c.-14 others(29): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CEP44_chr4_174278911_174325328 | 174297651 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 388 | 0.0026 | 10 | c.-14 others(27): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CEP55_chr10_93491612_93534092 | 93510645 | A | AAGATCAG others(3): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0085 | 1 | 386 | 0.0026 | 10 | c.528 others(27): Show |
CEP55 | ENSG00000138180.16 | transcript | ENST00000371485.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109116084 | C | CATTTTAT others(3): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0068 | a0002c0002t0068g0009 | 1 | 228 | 0.0044 | 10 | c.-4+ others(27): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109116127 | G | GTGTTATG others(3): Show |
intron_variant | MODIFIER | HG03516.hp2 NA18994.hp1 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0011 | a0001c0001t0002g0085a0001c0001t0004g0040a0001c0001t0011g0131 | 3 | 228 | 0.0132 | 10 | c.-4+ others(27): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109136700 | T | TTTTTATT others(3): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02717.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(4): Show | a0001c0001t0001g0031a0001c0001t0001g0146a0001c0001t0001g0156others(8): Show | 11 | 228 | 0.0483 | 10 | c.-3- others(25): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109174109 | A | AAAAAAAA others(3): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(32): Show |
a0002a0003a0006 | a0002c0002a0003c0005a0006c0008 | a0002c0002t0003a0002c0002t0025a0002c0002t0026others(16): Show | a0002c0002t0003g0001a0002c0002t0003g0013a0002c0002t0003g0014others(29): Show | 35 | 228 | 0.1535 | 10 | c.*11 others(23): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 11/11 | 11145 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
CEP57L1_chr6_109090507_109179418 | 109177637 | A | AATATATA others(3): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01884.hp1 HG02451.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0001g0149a0001c0001t0001g0156a0001c0001t0005g0187others(4): Show | 7 | 228 | 0.0307 | 10 | c.*14 others(23): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 3220 | chr6 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109177675 | T | TATATATA others(3): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG02109.hp1 HG03579.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0025a0002c0002t0080others(1): Show | a0002c0002t0003g0017a0002c0002t0025g0025a0002c0002t0080g0210others(1): Show | 4 | 228 | 0.0175 | 10 | c.*14 others(23): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 3258 | chr6 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134528569 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(89): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(6): Show | a0001c0001t0001g0008a0001c0001t0001g0216a0001c0001t0001g0286others(86): Show | 92 | 322 | 0.2857 | 10 | c.223 others(27): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP63_chr3_134481057_134570031 | 134538531 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01243.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0003t0003 | a0001c0001t0009g0097a0001c0003t0003g0204 | 2 | 322 | 0.0062 | 10 | c.555 others(27): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP63_chr3_134481057_134570031 | 134547614 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0280 | 1 | 322 | 0.0031 | 10 | c.106 others(27): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP63_chr3_134481057_134570031 | 134557376 | G | GTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG01123.hp1 others(31): Show |
a0001a0008 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(4): Show | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0003t0001g0141others(31): Show | 34 | 322 | 0.1056 | 10 | c.146 others(27): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP68_chr2_65051416_65092004 | 65066741 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0132 | 1 | 360 | 0.0028 | 10 | c.-46 others(27): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CEP68_chr2_65051416_65092004 | 65066745 | A | AAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0005 | a0005c0005 | a0005c0005t0005 | a0005c0005t0005g0134 | 1 | 360 | 0.0028 | 10 | c.-46 others(27): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CEP68_chr2_65051416_65092004 | 65066745 | A | AAAAAATA others(3): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02976.hp1 HG06807.hp2 |
a0005 | a0005c0005 | a0005c0005t0005 | a0005c0005t0005g0012 | 3 | 360 | 0.0083 | 10 | c.-46 others(27): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CEP68_chr2_65051416_65092004 | 65089702 | A | ATTTTTTT others(3): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 HG02809.hp1 HG02922.hp1 others(1): Show |
a0006 | a0006c0008 | a0006c0008t0009 | a0006c0008t0009g0029a0006c0008t0009g0117a0006c0008t0009g0120 | 4 | 360 | 0.0111 | 10 | c.*60 others(21): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 2699 | chr2 | TogoVar | ||||||
CEP70_chr3_138489344_138599260 | 138499783 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02129.hp1 HG02970.hp1 others(2): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0003 | a0002c0002t0002g0035a0002c0002t0002g0251a0002c0002t0002g0265others(2): Show | 5 | 318 | 0.0157 | 10 | c.165 others(27): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 16/17 | chr3 | TogoVar | ||||||
CEP70_chr3_138489344_138599260 | 138587620 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(130): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0011others(4): Show | a0001c0001t0001a0001c0004t0004a0001c0011t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(115): Show | 133 | 318 | 0.4182 | 10 | c.-6+ others(25): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 2/17 | chr3 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12668597 | C | CAAAAAAA others(3): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 380 | 0.0026 | 10 | c.*47 others(21): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 4027 | chr18 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12675077 | T | TACATTTT others(3): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02895.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0047a0001c0001t0006g0058a0001c0001t0006g0059others(3): Show | 6 | 380 | 0.0158 | 10 | c.162 others(27): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 10/11 | chr18 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12675077 | T | TATATTTT others(3): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(86): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(63): Show | 89 | 380 | 0.2342 | 10 | c.162 others(27): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 10/11 | chr18 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12695852 | C | CCACACAC others(3): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 2 | 380 | 0.0053 | 10 | c.707 others(25): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 5/11 | chr18 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12705570 | A | AGTGTGTG others(3): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00642.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0015a0001c0001t0002g0040others(10): Show | 17 | 380 | 0.0447 | 10 | c.-30 others(21): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 2848 | chr18 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12705572 | A | AGTGTGTG others(3): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 NA18940.hp1 NA18969.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037a0001c0001t0002g0210a0001c0001t0002g0215others(7): Show | 10 | 380 | 0.0263 | 10 | c.-30 others(21): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 2850 | chr18 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12705574 | A | AGTGTGTG others(3): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 HG01496.hp1 HG01934.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0010a0001c0001t0002g0209a0001c0001t0002g0255others(1): Show | 7 | 380 | 0.0184 | 10 | c.-30 others(21): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 2852 | chr18 | TogoVar | ||||||
CEP78_chr9_78231075_78284690 | 78236969 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG03209.hp1 NA19043.hp1 |
a0001 | a0001c0004 | a0001c0004t0028 | a0001c0004t0028g0219a0001c0004t0028g0220 | 2 | 340 | 0.0059 | 10 | c.253 others(25): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |