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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C22orf42_chr22_32144006_32164303 | 32147902 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0030 | 1 | 398 | 0.0025 | 23 | c.*16 others(34): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 1103 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32147902 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0056 | 1 | 398 | 0.0025 | 23 | c.*16 others(34): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 1103 | chr22 | TogoVar | ||||||
C2CD2_chr21_41880112_41959018 | 41911388 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0221 | 1 | 396 | 0.0025 | 23 | c.953 others(38): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 7/13 | chr21 | TogoVar | ||||||
C2CD2_chr21_41880112_41959018 | 41947144 | C | CTCTCTCT others(16): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0279 | 1 | 396 | 0.0025 | 23 | c.280 others(40): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74146710 | C | CACACACA others(16): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0032 | a0032c0024 | a0032c0024t0001 | a0032c0024t0001g0200 | 1 | 318 | 0.0031 | 23 | c.484 others(40): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
C2orf42_chr2_70144885_70196019 | 70148291 | T | TGGAGCCC others(16): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02572.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0044a0001c0001t0001g0062others(8): Show | 11 | 346 | 0.0318 | 23 | c.*20 others(34): Show |
C2orf42 | ENSG00000115998.8 | transcript | ENST00000264434.7 | protein_coding | 1593 | chr2 | TogoVar | ||||||
C2orf69_chr2_199906293_199933273 | 199913242 | A | AATATATA others(16): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02717.hp2 HG02970.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018a0001c0001t0002g0247a0001c0001t0002g0248others(1): Show | 7 | 412 | 0.0170 | 23 | c.333 others(40): Show |
C2orf69 | ENSG00000178074.6 | transcript | ENST00000319974.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C3_chr19_6672704_6725650 | 6710030 | A | AGAGAGAG others(16): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0292 | 1 | 370 | 0.0027 | 23 | c.168 others(40): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 13/40 | chr19 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6710034 | A | AGAGGGAG others(16): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 370 | 0.0027 | 23 | c.168 others(40): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 13/40 | chr19 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6718664 | C | CAGAAAGG others(16): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0147 | 1 | 370 | 0.0027 | 23 | c.268 others(38): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 2/40 | chr19 | TogoVar | ||||||
C3orf38_chr3_88144959_88162965 | 88162142 | G | GAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0007 | 2 | 320 | 0.0063 | 23 | c.*55 others(34): Show |
C3orf38 | ENSG00000179021.10 | transcript | ENST00000318887.8 | protein_coding | 4178 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185073970 | C | CTTTTTTT others(16): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 NA18939.hp1 NA18949.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020a0001c0001t0021others(1): Show | a0001c0001t0002g0056a0001c0001t0002g0118a0001c0001t0020g0336others(2): Show | 5 | 388 | 0.0129 | 23 | c.*90 others(34): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 2867 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185079280 | C | CAAAAAAA others(16): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG02074.hp2 NA18967.hp2 |
a0002 | a0002c0002 | a0002c0002t0100a0002c0002t0101a0002c0002t0102 | a0002c0002t0100g0233a0002c0002t0101g0281a0002c0002t0102g0253 | 3 | 388 | 0.0077 | 23 | c.*37 others(34): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 2/2 | 3726 | chr3 | TogoVar | |||||
C3orf80_chr3_160220422_160233213 | 160223765 | T | TAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02004.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0000a0001c0001t0006g0000 | 6 | 410 | 0.0146 | 23 | c.-18 others(34): Show |
C3orf80 | ENSG00000180044.6 | transcript | ENST00000326474.5 | protein_coding | 1656 | chr3 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37508683 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG01175.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(2): Show | a0001c0001t0003g0189a0001c0001t0003g0241a0001c0001t0005g0180others(5): Show | 8 | 354 | 0.0226 | 23 | c.-72 others(42): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | NA18953.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0036 | a0001c0001t0002g0174a0001c0001t0036g0271 | 2 | 354 | 0.0057 | 23 | c.*57 others(34): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG02486.hp1 NA19068.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0012a0001c0001t0053others(1): Show | a0001c0001t0003g0312a0001c0001t0012g0179a0001c0001t0053g0092others(1): Show | 4 | 354 | 0.0113 | 23 | c.*57 others(34): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 HG01928.hp2 HG02683.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0055 | a0001c0001t0001g0232a0001c0001t0002g0320a0001c0006t0055g0345 | 3 | 354 | 0.0085 | 23 | c.*57 others(34): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0082 | 1 | 354 | 0.0028 | 23 | c.*57 others(34): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | ||||||
C4orf45_chr4_158888134_159040229 | 159013807 | A | AATGAAGC others(16): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(254): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(249): Show | 257 | 264 | 0.9735 | 23 | c.64+ others(40): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
C4orf47_chr4_185421254_185454826 | 185443343 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG00642.hp1 HG03209.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0106a0001c0001t0004g0110a0001c0001t0004g0228 | 3 | 358 | 0.0084 | 23 | c.715 others(40): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | chr4 | TogoVar | ||||||
C5orf46_chr5_147887722_147911538 | 147908963 | C | CAAAACAA others(16): Show |
upstream_gene_variant | MODIFIER | NA18971.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0005 | 1 | 452 | 0.0022 | 23 | c.-24 others(34): Show |
C5orf46 | ENSG00000178776.5 | transcript | ENST00000318315.5 | protein_coding | 2426 | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40916084 | C | CAGTTAAA others(16): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01243.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0005a0002c0002t0006others(1): Show | a0002c0002t0004g0151a0002c0002t0004g0152a0002c0002t0005g0016others(7): Show | 10 | 380 | 0.0263 | 23 | c.6+6 others(36): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7orf50_chr7_992006_1143247 | 999412 | A | AGCTTGCA others(16): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03195.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0082a0001c0001t0001g0083a0001c0001t0002g0266 | 3 | 326 | 0.0092 | 23 | c.405 others(40): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 4/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 999429 | A | ACAATCGG others(16): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0289a0001c0001t0003g0290a0001c0001t0014g0158others(3): Show | 6 | 326 | 0.0184 | 23 | c.405 others(40): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 4/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1016765 | A | ACAGCAGC others(16): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01074.hp2 HG01515.hp2 others(29): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0003g0244a0001c0001t0003g0245a0001c0001t0003g0246others(29): Show | 32 | 326 | 0.0982 | 23 | c.130 others(40): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C8A_chr1_56849797_56923223 | 56870681 | T | TAAATTAA others(16): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02622.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002 | a0001c0001t0001g0109a0001c0001t0001g0217a0003c0003t0002g0279others(2): Show | 5 | 366 | 0.0137 | 23 | c.171 others(40): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 2/10 | chr1 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68331770 | C | CTTTCCTT others(16): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 128 | 0.0078 | 23 | c.327 others(38): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68331783 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02723.hp1 HG06807.hp2 |
a0002a0006 | a0002c0004a0006c0009 | a0002c0004t0002a0006c0009t0001 | a0002c0004t0002g0121a0006c0009t0001g0107 | 2 | 128 | 0.0156 | 23 | c.327 others(38): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68491670 | A | ATCATGCA others(16): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0046 | 1 | 128 | 0.0078 | 23 | c.765 others(40): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68774944 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02896.hp1 HG02922.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0056others(8): Show | 11 | 128 | 0.0859 | 23 | c.140 others(42): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68794506 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0073 | 1 | 128 | 0.0078 | 23 | c.154 others(42): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68794506 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0086 | 1 | 128 | 0.0078 | 23 | c.154 others(42): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
C9orf152_chr9_110194561_110213159 | 110198893 | C | CAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00741.hp2 HG01496.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045a0001c0001t0001g0077a0001c0001t0001g0086others(1): Show | 4 | 466 | 0.0086 | 23 | c.*20 others(34): Show |
C9orf152 | ENSG00000188959.10 | transcript | ENST00000400613.5 | protein_coding | 667 | chr9 | TogoVar | ||||||
C9orf72_chr9_27541546_27578481 | 27573523 | C | CGCCCCGG others(16): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0007 | 1 | 438 | 0.0023 | 23 | c.-13 others(32): Show |
C9orf72 | ENSG00000147894.17 | transcript | ENST00000380003.8 | protein_coding | 43 | chr9 | TogoVar | ||||||
C9orf85_chr9_71906639_71978457 | 71913765 | A | ACTTGTAC others(16): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0032 | 2 | 250 | 0.0080 | 23 | c.102 others(40): Show |
C9orf85 | ENSG00000155621.15 | transcript | ENST00000334731.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CA12_chr15_63316378_63386846 | 63376557 | C | CTTTCTTT others(16): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0266 | 1 | 356 | 0.0028 | 23 | c.86- others(36): Show |
CA12 | ENSG00000074410.14 | transcript | ENST00000178638.8 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
CA12_chr15_63316378_63386846 | 63376599 | T | TTTCTTTC others(16): Show |
intron_variant | MODIFIER | HG01256.hp2 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0205 | 2 | 356 | 0.0056 | 23 | c.86- others(36): Show |
CA12 | ENSG00000074410.14 | transcript | ENST00000178638.8 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8955611 | A | ACCTTCCA others(16): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00639.hp1 others(41): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0006a0002c0001others(8): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(15): Show | a0001c0002t0001g0132a0001c0002t0001g0210a0001c0002t0001g0232others(41): Show | 44 | 452 | 0.0974 | 23 | c.260 others(40): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CA6_chr1_8940868_8980092 | 8955611 | A | ACCTTGCA others(16): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0008 | a0008c0023 | a0008c0023t0001 | a0008c0023t0001g0314 | 1 | 452 | 0.0022 | 23 | c.260 others(40): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CA6_chr1_8940868_8980092 | 8955616 | G | GCACGCCT others(16): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02055.hp2 others(16): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0006a0002c0001others(5): Show | a0001c0002t0001a0001c0006t0001a0001c0006t0003others(6): Show | a0001c0002t0001g0347a0001c0006t0001g0133a0001c0006t0003g0006others(13): Show | 19 | 452 | 0.0420 | 23 | c.260 others(40): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CA6_chr1_8940868_8980092 | 8959931 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03139.hp1 |
a0002 | a0002c0001 | a0002c0001t0007a0002c0001t0011 | a0002c0001t0007g0337a0002c0001t0011g0338 | 2 | 452 | 0.0044 | 23 | c.501 others(38): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CA6_chr1_8940868_8980092 | 8977700 | A | AAAGAAAG others(16): Show |
downstream_gene_variant | MODIFIER | NA18975.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0113 | 1 | 452 | 0.0022 | 23 | c.*29 others(34): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2609 | chr1 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49346120 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01934.hp1 HG01952.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0050a0001c0001t0001g0165a0001c0001t0001g0184others(4): Show | 7 | 324 | 0.0216 | 23 | c.565 others(40): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 7/10 | chr13 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230748829 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327 | 1 | 342 | 0.0029 | 23 | c.-43 others(42): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230782809 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02965.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0021a0001c0001t0071a0001c0001t0072others(1): Show | a0001c0001t0021g0168a0001c0001t0071g0177a0001c0001t0072g0176others(1): Show | 4 | 342 | 0.0117 | 23 | c.115 others(40): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CABCOCO1_chr10_61657929_61771766 | 61666952 | G | GTATAAAT others(16): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(51): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0119a0001c0001t0001g0138a0001c0001t0001g0143others(49): Show | 54 | 374 | 0.1444 | 23 | c.60+ others(38): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CABCOCO1_chr10_61657929_61771766 | 61679329 | C | CTATATCT others(16): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03209.hp2 HG03471.hp2 |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0003a0001c0001t0007a0004c0009t0008 | a0001c0001t0003g0292a0001c0001t0007g0266a0004c0009t0008g0265 | 3 | 374 | 0.0080 | 23 | c.165 others(40): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CABP5_chr19_48024383_48049079 | 48028497 | C | CTTTTTTT others(16): Show |
downstream_gene_variant | MODIFIER | NA18952.hp2 NA18960.hp2 NA19082.hp2 |
a0003 | a0003c0004 | a0003c0004t0014a0003c0004t0018 | a0003c0004t0014g0032a0003c0004t0018g0209 | 3 | 376 | 0.0080 | 23 | c.*20 others(34): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 885 | chr19 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48029837 | A | AGAGAGAG others(16): Show |
3_prime_UTR_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0004 | a0003c0004t0067 | a0003c0004t0067g0217 | 1 | 376 | 0.0027 | 23 | c.*71 others(32): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 6/6 | 719 | chr19 | TogoVar |