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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDK15_chr2_201801537_201900550 | 201836073 | T | TCTATATA others(14): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0084 | 1 | 322 | 0.0031 | 21 | c.851 others(36): Show |
CDK15 | ENSG00000138395.17 | transcript | ENST00000652192.3 | protein_coding | 8/13 | chr2 | TogoVar | ||||||
CDK15_chr2_201801537_201900550 | 201836073 | T | TTTATATA others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(117): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0002g0192a0001c0001t0003g0019a0001c0001t0003g0027others(113): Show | 120 | 322 | 0.3727 | 21 | c.851 others(36): Show |
CDK15 | ENSG00000138395.17 | transcript | ENST00000652192.3 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CDK15_chr2_201801537_201900550 | 201857232 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01517.hp2 HG02135.hp1 others(10): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0203a0001c0001t0003g0038a0001c0001t0003g0055others(10): Show | 13 | 322 | 0.0404 | 21 | c.100 others(40): Show |
CDK15 | ENSG00000138395.17 | transcript | ENST00000652192.3 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CDK17_chr12_96273261_96405439 | 96308731 | A | AAATAATA others(14): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02683.hp1 HG04199.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0227a0001c0001t0003g0017a0001c0001t0003g0020others(1): Show | 4 | 346 | 0.0116 | 21 | c.543 others(38): Show |
CDK17 | ENSG00000059758.8 | transcript | ENST00000261211.8 | protein_coding | 5/16 | chr12 | TogoVar | ||||||
CDK17_chr12_96273261_96405439 | 96368806 | C | CGGGGGGG others(14): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0329 | 1 | 346 | 0.0029 | 21 | c.-30 others(40): Show |
CDK17 | ENSG00000059758.8 | transcript | ENST00000261211.8 | protein_coding | 1/16 | chr12 | TogoVar | ||||||
CDK17_chr12_96273261_96405439 | 96369467 | T | TGGTGAGG others(14): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0314 | 1 | 346 | 0.0029 | 21 | c.-30 others(40): Show |
CDK17 | ENSG00000059758.8 | transcript | ENST00000261211.8 | protein_coding | 1/16 | chr12 | TogoVar | ||||||
CDK18_chr1_205499669_205537790 | 205532903 | A | ATGTGTGT others(14): Show |
downstream_gene_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 388 | 0.0026 | 21 | c.*15 others(32): Show |
CDK18 | ENSG00000117266.16 | transcript | ENST00000429964.7 | protein_coding | 114 | chr1 | TogoVar | ||||||
CDK2AP1_chr12_123255976_123276856 | 123274793 | G | GAAAGAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 HG02083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0092 | 2 | 328 | 0.0061 | 21 | c.-31 others(32): Show |
CDK2AP1 | ENSG00000111328.7 | transcript | ENST00000261692.7 | protein_coding | 2938 | chr12 | TogoVar | ||||||
CDK5R2_chr2_218954666_218967155 | 218966001 | C | CCTGATAA others(14): Show |
downstream_gene_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 388 | 0.0026 | 21 | c.*50 others(32): Show |
CDK5R2 | ENSG00000171450.6 | transcript | ENST00000302625.6 | protein_coding | 3847 | chr2 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20609297 | T | TCTCCTTC others(14): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 196 | 0.0051 | 21 | c.287 others(40): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 20756917 | T | TTCCCTCC others(14): Show |
intron_variant | MODIFIER | HG01167.hp2 HG03490.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0028a0001c0006t0003 | a0001c0002t0028g0103a0001c0006t0003g0030 | 2 | 196 | 0.0102 | 21 | c.469 others(38): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKN1A_chr6_36673714_36692332 | 36681264 | T | TTTTCTTT others(14): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0079 | 1 | 454 | 0.0022 | 21 | c.-6+ others(36): Show |
CDKN1A | ENSG00000124762.14 | transcript | ENST00000244741.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKN2A_chr9_21962752_21979857 | 21971575 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01943.hp2 HG02132.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0032a0001c0001t0002g0021a0001c0001t0004g0106 | 6 | 416 | 0.0144 | 21 | c.151 others(36): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000304494.10 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
CDKN2A_chr9_21962752_21999392 | 21971575 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01943.hp2 HG02132.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0187a0001c0001t0001g0188a0001c0001t0002g0248others(3): Show | 6 | 404 | 0.0149 | 21 | c.194 others(36): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
CDKN2A_chr9_21962752_21999392 | 21990651 | A | AGAGAGAG others(14): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02559.hp1 NA19054.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115a0001c0001t0001g0159a0001c0001t0001g0209others(1): Show | 4 | 404 | 0.0099 | 21 | c.193 others(38): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
CDKN2D_chr19_10561460_10573979 | 10570547 | C | CAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 410 | 0.0122 | 21 | c.-18 others(32): Show |
CDKN2D | ENSG00000129355.7 | transcript | ENST00000393599.3 | protein_coding | 1569 | chr19 | TogoVar | ||||||
CDNF_chr10_14814245_14843037 | 14826014 | C | CAGAAGCA others(14): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0311a0001c0001t0002g0323 | 2 | 418 | 0.0048 | 21 | c.244 others(36): Show |
CDNF | ENSG00000185267.10 | transcript | ENST00000465530.2 | protein_coding | 2/3 | chr10 | TogoVar | ||||||
CDNF_chr10_14814245_14843037 | 14826095 | A | AAGAAGAA others(14): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 418 | 0.0024 | 21 | c.244 others(36): Show |
CDNF | ENSG00000185267.10 | transcript | ENST00000465530.2 | protein_coding | 2/3 | chr10 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 125971411 | T | TAAATAAA others(14): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0011 | a0011c0018 | a0011c0018t0027 | a0011c0018t0027g0190 | 1 | 334 | 0.0030 | 21 | c.335 others(40): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 18/19 | chr11 | TogoVar | ||||||
CDR2L_chr17_74982632_75010800 | 75008948 | A | ATTTCTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp2 others(19): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0005a0001c0003t0012others(1): Show | a0001c0003t0004g0016a0001c0003t0004g0026a0001c0003t0004g0059others(13): Show | 22 | 352 | 0.0625 | 21 | c.*48 others(32): Show |
CDR2L | ENSG00000109089.7 | transcript | ENST00000337231.5 | protein_coding | 3149 | chr17 | TogoVar | ||||||
CDRT4_chr17_15431015_15472621 | 15435748 | C | CAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0156 | 1 | 430 | 0.0023 | 21 | c.*20 others(32): Show |
CDRT4 | ENSG00000239704.12 | transcript | ENST00000619038.5 | protein_coding | 266 | chr17 | TogoVar | ||||||
CDS2_chr20_5122008_5202887 | 5127032 | A | AGCTGCCT others(14): Show |
5_prime_UTR_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0060 | 1 | 348 | 0.0029 | 21 | c.-55 others(28): Show |
CDS2 | ENSG00000101290.14 | transcript | ENST00000460006.6 | protein_coding | 1/13 | 34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||
CDS2_chr20_5122008_5202887 | 5154587 | T | TCTGAAGG others(14): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01081.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0029others(6): Show | a0001c0001t0005g0076a0001c0001t0005g0107a0001c0001t0005g0108others(23): Show | 26 | 348 | 0.0747 | 21 | c.58- others(38): Show |
CDS2 | ENSG00000101290.14 | transcript | ENST00000460006.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDV3_chr3_133568686_133595261 | 133594433 | T | TAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG01175.hp2 others(12): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0004 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(8): Show | 15 | 386 | 0.0389 | 21 | c.*63 others(32): Show |
CDV3 | ENSG00000091527.17 | transcript | ENST00000264993.8 | protein_coding | 4173 | chr3 | TogoVar | ||||||
CDYL2_chr16_80592907_80809598 | 80672535 | A | AAAAGGAA others(14): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0074 | 1 | 258 | 0.0039 | 21 | c.616 others(40): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
CDYL2_chr16_80592907_80809598 | 80759118 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0028 | 1 | 258 | 0.0039 | 21 | c.24+ others(38): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
CDYL2_chr16_80592907_80809598 | 80759120 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01261.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0006a0001c0001t0011g0048 | 2 | 258 | 0.0078 | 21 | c.24+ others(38): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4821260 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0011 | a0001c0011t0004 | a0001c0011t0004g0238 | 1 | 250 | 0.0040 | 21 | c.24+ others(38): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDYL_chr6_4771404_4960544 | 4959971 | C | CAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0170 | 1 | 250 | 0.0040 | 21 | c.*59 others(32): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 4428 | chr6 | TogoVar | ||||||
CEBPZOS_chr2_37191496_37209743 | 37193597 | A | AAAGAAGA others(14): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 466 | 0.0022 | 21 | c.-29 others(32): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 2898 | chr2 | TogoVar | ||||||
CEBPZOS_chr2_37191496_37209743 | 37193643 | A | AAGAAGAA others(14): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 HG02922.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0009 | 3 | 466 | 0.0064 | 21 | c.-28 others(32): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 2852 | chr2 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17413663 | G | GATTATTA others(14): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0016 | a0016c0024 | a0016c0024t0070 | a0016c0024t0070g0194 | 1 | 324 | 0.0031 | 21 | c.126 others(40): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17428798 | T | TGTGTGTG others(14): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0310 | 1 | 324 | 0.0031 | 21 | c.127 others(40): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17447033 | C | CTGTTTTT others(14): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0025 | a0001c0001t0010g0198a0001c0001t0025g0013 | 2 | 324 | 0.0062 | 21 | c.127 others(40): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CELF1_chr11_47460937_47558132 | 47489935 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01943.hp1 HG02886.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0178a0001c0001t0002g0244a0001c0001t0002g0267others(6): Show | 9 | 340 | 0.0265 | 21 | c.72- others(34): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 3/14 | chr11 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3225172 | G | GCAGCTCA others(14): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0258 | 1 | 262 | 0.0038 | 21 | c.259 others(36): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | chr19 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3226476 | A | ACACACAC others(14): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0234 | 1 | 262 | 0.0038 | 21 | c.259 others(38): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | chr19 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3256064 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0250 | 1 | 262 | 0.0038 | 21 | c.342 others(38): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3299515 | C | CTCTTCTT others(14): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0188 | 1 | 262 | 0.0038 | 21 | c.*27 others(32): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2440 | chr19 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3299515 | C | CTCTTCTT others(14): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 HG01358.hp1 HG02280.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0001g0069a0001c0001t0001g0086others(6): Show | 9 | 262 | 0.0344 | 21 | c.*27 others(32): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2440 | chr19 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46536784 | C | CCCGCAGA others(14): Show |
disruptive_inframe_insertion | MODERATE | HG01099.hp2 | a0038 | a0038c0007 | a0038c0007t0001 | a0038c0007t0001g0004 | 1 | 104 | 0.0096 | 21 | c.366 others(28): Show |
p.Gly others(34): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 836/11559 | 386/9060 | 129/3019 | chr22 | TogoVar | ||
CEMIP2_chr9_71678366_71773513 | 71728193 | T | TCTCTCTC others(14): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0007 | a0002c0007t0013 | a0002c0007t0013g0253 | 1 | 320 | 0.0031 | 21 | c.204 others(40): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 10/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71755381 | A | ACACACAC others(14): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0007 | a0007c0014 | a0007c0014t0017 | a0007c0014t0017g0089 | 1 | 320 | 0.0031 | 21 | c.-12 others(38): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 1/23 | chr9 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80839289 | A | ATGTGTGT others(14): Show |
intron_variant | MODIFIER | HG03139.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0024 | a0001c0001t0001a0001c0024t0005 | a0001c0001t0001g0243a0001c0024t0005g0120 | 2 | 254 | 0.0079 | 21 | c.-17 others(42): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80848927 | C | CACACACA others(14): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 254 | 0.0039 | 21 | c.-17 others(42): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80900585 | G | GTGTGTGT others(14): Show |
intron_variant | MODIFIER | HG02965.hp1 NA18948.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0204a0001c0002t0001g0119 | 2 | 254 | 0.0079 | 21 | c.141 others(40): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 12/29 | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80900648 | G | GTGTGTGT others(14): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0107 | 1 | 254 | 0.0039 | 21 | c.141 others(40): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CEMP1_chr16_2525035_2536408 | 2533430 | A | ATTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 HG01934.hp1 HG02015.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 8 | 348 | 0.0230 | 21 | c.-23 others(32): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 2023 | chr16 | TogoVar | ||||||
CENPA_chr2_26781056_26799589 | 26784448 | C | CTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG02083.hp2 NA18987.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 3 | 382 | 0.0079 | 21 | c.-17 others(32): Show |
CENPA | ENSG00000115163.15 | transcript | ENST00000335756.9 | protein_coding | 1607 | chr2 | TogoVar | ||||||
CENPE_chr4_103100811_103203343 | 103132960 | T | TTATATAT others(14): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0094 | 1 | 320 | 0.0031 | 21 | c.672 others(36): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 41/48 | chr4 | TogoVar |