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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDH18_chr5_19466296_19993200 | 19867641 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(115): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(115): Show | 118 | 138 | 0.8551 | -40 | c.-25 others(61): Show |
CDH18 | ENSG00000145526.12 | transcript | ENST00000382275.6 | protein_coding | 2/12 | chr5 | TogoVar | ||||||
CDH23_chr10_71391920_71820947 | 71403392 | TTTCTTTC others(33): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00741.hp2 HG01070.hp2 others(6): Show |
a0010a0014a0015others(4): Show | a0010c0019a0014c0015a0015c0042others(4): Show | a0010c0019t0009a0014c0015t0010a0015c0042t0020others(4): Show | a0010c0019t0009g0025a0010c0019t0009g0026a0014c0015t0010g0004others(6): Show | 9 | 196 | 0.0459 | -40 | c.-6+ others(55): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 1/69 | chr10 | TogoVar | ||||||
CDH26_chr20_59953423_60019529 | 59953945 | TATATATA others(33): Show |
T | upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0030 | 1 | 288 | 0.0035 | -40 | c.-47 others(51): Show |
CDH26 | ENSG00000124215.17 | transcript | ENST00000348616.9 | protein_coding | 4477 | chr20 | TogoVar | ||||||
CDH26_chr20_59953423_60019529 | 59953953 | TATATATA others(33): Show |
T | upstream_gene_variant | MODIFIER | HG03540.hp2 | a0003 | a0003c0006 | a0003c0006t0014 | a0003c0006t0014g0026 | 1 | 288 | 0.0035 | -40 | c.-47 others(51): Show |
CDH26 | ENSG00000124215.17 | transcript | ENST00000348616.9 | protein_coding | 4469 | chr20 | TogoVar | ||||||
CDH26_chr20_59953423_60019529 | 59953955 | TATATATA others(33): Show |
T | upstream_gene_variant | MODIFIER | HG02647.hp2 | a0003 | a0003c0015 | a0003c0015t0008 | a0003c0015t0008g0024 | 1 | 288 | 0.0035 | -40 | c.-47 others(51): Show |
CDH26 | ENSG00000124215.17 | transcript | ENST00000348616.9 | protein_coding | 4467 | chr20 | TogoVar | ||||||
CDH26_chr20_59953423_60019529 | 59953959 | TATATATA others(33): Show |
T | upstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0009 | 1 | 288 | 0.0035 | -40 | c.-47 others(51): Show |
CDH26 | ENSG00000124215.17 | transcript | ENST00000348616.9 | protein_coding | 4463 | chr20 | TogoVar | ||||||
CDH3_chr16_68640310_68705292 | 68683666 | AAAAAAAA others(33): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp2 HG02572.hp1 others(9): Show |
a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0006a0001c0004t0006g0007a0001c0004t0006g0168others(7): Show | 12 | 338 | 0.0355 | -40 | c.118 others(57): Show |
CDH3 | ENSG00000062038.15 | transcript | ENST00000264012.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61565193 | TTGGTGGT others(33): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG03195.hp1 |
a0001a0003 | a0001c0003a0003c0017 | a0001c0003t0054a0003c0017t0002 | a0001c0003t0054g0086a0003c0017t0002g0053 | 2 | 106 | 0.0189 | -40 | c.170 others(61): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61699767 | GGACCCGG others(33): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG02145.hp1 HG03516.hp1 others(1): Show |
a0001a0002 | a0001c0003a0001c0007a0002c0004 | a0001c0003t0053a0001c0007t0010a0002c0004t0003 | a0001c0003t0053g0074a0001c0007t0010g0037a0001c0007t0010g0044others(1): Show | 4 | 106 | 0.0377 | -40 | c.170 others(59): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH6_chr5_31188686_31334146 | 31292812 | TATATGTG others(33): Show |
T | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0005 | a0001c0005t0024 | a0001c0005t0024g0085 | 1 | 338 | 0.0030 | -40 | c.229 others(57): Show |
CDH6 | ENSG00000113361.13 | transcript | ENST00000265071.3 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDH7_chr18_65746012_65895337 | 65849339 | TTTTTCTT others(33): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02717.hp1 |
a0001a0002 | a0001c0024a0002c0002 | a0001c0024t0002a0002c0002t0057 | a0001c0024t0002g0082a0002c0002t0057g0011 | 2 | 208 | 0.0096 | -40 | c.123 others(59): Show |
CDH7 | ENSG00000081138.14 | transcript | ENST00000397968.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CDH7_chr18_65746012_65895337 | 65892878 | GGAAGGAA others(33): Show |
G | downstream_gene_variant | MODIFIER | HG01074.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0139 | 1 | 208 | 0.0048 | -40 | c.*11 others(53): Show |
CDH7 | ENSG00000081138.14 | transcript | ENST00000397968.4 | protein_coding | 2542 | chr18 | TogoVar | ||||||
CDIN1_chr15_36574626_36815244 | 36576110 | CTCATTCC others(33): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 238 | 0.0042 | -40 | c.-37 others(51): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 3515 | chr15 | TogoVar | ||||||
CDIN1_chr15_36574626_36815244 | 36800893 | GTGTGTGT others(33): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp1 HG02922.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0013a0001c0001t0016others(2): Show | a0001c0001t0005g0103a0001c0001t0013g0146a0001c0001t0016g0075others(5): Show | 8 | 238 | 0.0336 | -40 | c.717 others(57): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CDK12_chr17_39456486_39539544 | 39481672 | CTCTCTCT others(33): Show |
C | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0094 | 1 | 260 | 0.0039 | -40 | c.193 others(59): Show |
CDK12 | ENSG00000167258.16 | transcript | ENST00000447079.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 90621613 | TTTCCTTC others(33): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0027 | 1 | 168 | 0.0060 | -40 | c.123 others(59): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 91186141 | TCCTCTCC others(33): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01167.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0086a0001c0001t0001g0145others(9): Show | 12 | 168 | 0.0714 | -40 | c.*29 others(59): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK2AP1_chr12_123255976_123276856 | 123275168 | GGCTGGGG others(33): Show |
G | upstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024a0001c0001t0003g0040 | 2 | 328 | 0.0061 | -40 | c.-35 others(51): Show |
CDK2AP1 | ENSG00000111328.7 | transcript | ENST00000261692.7 | protein_coding | 3313 | chr12 | TogoVar | ||||||
CDK5RAP1_chr20_33353839_33406519 | 33389309 | GGCCGCCC others(33): Show |
G | intron_variant | MODIFIER | NA18956.hp1 NA18988.hp2 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0139a0001c0002t0001g0296a0001c0002t0001g0314 | 3 | 358 | 0.0084 | -40 | c.545 others(57): Show |
CDK5RAP1 | ENSG00000101391.21 | transcript | ENST00000346416.7 | protein_coding | 5/13 | chr20 | TogoVar | ||||||
CDKL2_chr4_75571496_75635528 | 75595954 | GAGGAAGG others(33): Show |
G | intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 306 | 0.0033 | -40 | c.141 others(57): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 10/13 | chr4 | TogoVar | ||||||
CDKL2_chr4_75571496_75635528 | 75595993 | GAAGGAAG others(33): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02809.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0049a0001c0001t0011g0052a0001c0001t0011g0053others(1): Show | 4 | 306 | 0.0131 | -40 | c.141 others(57): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 10/13 | chr4 | TogoVar | ||||||
CDKN2A_chr9_21962752_21999392 | 21981122 | GTGTATAT others(33): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225a0001c0001t0001g0227a0001c0001t0001g0350others(4): Show | 7 | 404 | 0.0173 | -40 | c.194 others(57): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
CEACAM18_chr19_51473539_51496301 | 51495221 | ATGGATGG others(33): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(28): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0009others(7): Show | a0001c0001t0003g0001a0001c0001t0004g0001a0001c0001t0009g0001others(9): Show | 31 | 420 | 0.0738 | -40 | c.*45 others(51): Show |
CEACAM18 | ENSG00000213822.7 | transcript | ENST00000396477.5 | protein_coding | 3921 | chr19 | TogoVar | ||||||
CEACAM18_chr19_51473539_51496301 | 51495325 | ATGGATGG others(33): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG01081.hp2 HG01256.hp2 others(12): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(3): Show | a0001c0001t0003a0002c0002t0011a0004c0004t0002others(6): Show | a0001c0001t0003g0001a0002c0002t0011g0029a0004c0004t0002g0009others(7): Show | 15 | 420 | 0.0357 | -40 | c.*46 others(51): Show |
CEACAM18 | ENSG00000213822.7 | transcript | ENST00000396477.5 | protein_coding | 4025 | chr19 | TogoVar | ||||||
CEACAM19_chr19_44666482_44689355 | 44668396 | ATAATATG others(33): Show |
A | upstream_gene_variant | MODIFIER | HG01099.hp2 HG02055.hp1 HG02486.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010a0002c0002t0001g0042a0002c0002t0001g0072others(2): Show | 13 | 390 | 0.0333 | -40 | c.-35 others(51): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 3085 | chr19 | TogoVar | ||||||
CEACAM20_chr19_44501159_44534675 | 44518103 | AAAGGAAG others(33): Show |
A | intron_variant | MODIFIER | HG03471.hp1 NA18972.hp1 |
a0007a0009 | a0007c0008a0009c0007 | a0007c0008t0001a0009c0007t0001 | a0007c0008t0001g0086a0009c0007t0001g0042 | 2 | 438 | 0.0046 | -40 | c.103 others(57): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 5/11 | chr19 | TogoVar | ||||||
CEACAM20_chr19_44501159_44534675 | 44532541 | AAGGAAAG others(33): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01071.hp1 others(8): Show |
a0001a0009a0017 | a0001c0001a0001c0018a0009c0007others(1): Show | a0001c0001t0001a0001c0018t0001a0009c0007t0001others(1): Show | a0001c0001t0001g0188a0001c0001t0001g0213a0001c0018t0001g0196others(5): Show | 11 | 438 | 0.0251 | -40 | c.-30 others(51): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 2867 | chr19 | TogoVar | ||||||
CEBPZOS_chr2_37191496_37209743 | 37194875 | CCCTCCCT others(33): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG02004.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0034a0001c0001t0066 | a0001c0001t0019g0010a0001c0001t0034g0010a0001c0001t0066g0042 | 7 | 466 | 0.0150 | -40 | c.-16 others(51): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 1620 | chr2 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46498251 | AAAAAAAA others(33): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0018 | a0018c0046 | a0018c0046t0001 | a0018c0046t0001g0030 | 1 | 104 | 0.0096 | -40 | c.354 others(61): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR2_chr1_109244539_109280751 | 109274588 | CCTCAGAA others(33): Show |
C | 3_prime_UTR_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0071 | a0002c0071t0025 | a0002c0071t0025g0057 | 1 | 356 | 0.0028 | -40 | c.*54 others(49): Show |
CELSR2 | ENSG00000143126.8 | transcript | ENST00000271332.4 | protein_coding | 34/34 | 541 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
CENPF_chr1_214598195_214669571 | 214616819 | CTTCTTTC others(33): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0013 | a0013c0015 | a0013c0015t0004 | a0013c0015t0004g0053 | 1 | 282 | 0.0036 | -40 | c.360 others(57): Show |
CENPF | ENSG00000117724.15 | transcript | ENST00000366955.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CENPF_chr1_214598195_214669571 | 214616835 | CTCTTTCT others(33): Show |
C | intron_variant | MODIFIER | HG03704.hp2 NA18943.hp1 NA18973.hp2 others(5): Show |
a0005a0043 | a0005c0005a0043c0043 | a0005c0005t0003a0043c0043t0006 | a0005c0005t0003g0002a0005c0005t0003g0245a0005c0005t0003g0247others(1): Show | 8 | 282 | 0.0284 | -40 | c.360 others(57): Show |
CENPF | ENSG00000117724.15 | transcript | ENST00000366955.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CENPK_chr5_65512766_65568168 | 65527498 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0241a0001c0001t0004g0245 | 2 | 374 | 0.0054 | -40 | c.597 others(55): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 9/10 | chr5 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65937302 | GCCCGGCC others(33): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02145.hp2 others(7): Show |
a0002 | a0002c0001a0002c0007a0002c0008 | a0002c0001t0001a0002c0007t0001a0002c0008t0001 | a0002c0001t0001g0027a0002c0001t0001g0043a0002c0001t0001g0045others(7): Show | 10 | 112 | 0.0893 | -40 | c.187 others(59): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 18/26 | chr17 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80656273 | TTTTATTT others(33): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG03098.hp2 HG03195.hp1 others(1): Show |
a0002a0004a0011 | a0002c0002a0004c0004a0011c0018 | a0002c0002t0004a0002c0002t0010a0004c0004t0014others(1): Show | a0002c0002t0004g0067a0002c0002t0010g0010a0004c0004t0014g0069others(1): Show | 4 | 164 | 0.0244 | -40 | c.280 others(61): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80656275 | TTATTTAT others(33): Show |
T | intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0081 | 1 | 164 | 0.0061 | -40 | c.280 others(61): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81227790 | TGTGATAG others(33): Show |
T | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0044 | a0044c0067 | a0044c0067t0001 | a0044c0067t0001g0127 | 1 | 384 | 0.0026 | -40 | c.-50 others(51): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 4826 | chr17 | TogoVar | ||||||
CEP170_chr1_243119428_243260281 | 243257481 | AAAATAAT others(33): Show |
A | upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0112 | 1 | 303 | 0.0033 | -40 | c.-25 others(51): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 2201 | chr1 | TogoVar | ||||||
CEP192_chr18_12986362_13130036 | 13098406 | GCTCCTCA others(33): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(43): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0004 | a0004c0004t0001g0001a0004c0004t0001g0002a0004c0004t0001g0005others(33): Show | 46 | 392 | 0.1174 | -40 | c.655 others(59): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 36/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CEP72_chr5_607340_658553 | 633036 | GCCGGGAT others(33): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01192.hp1 others(15): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(14): Show | 18 | 91 | 0.1978 | -40 | c.513 others(55): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP97_chr3_101719614_101775562 | 101763875 | ACATTATT others(33): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00544.hp1 others(111): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0003a0004c0004others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0012others(5): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0005others(93): Show | 114 | 352 | 0.3239 | -40 | c.189 others(57): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEPT1_chr1_111135223_111190104 | 111154187 | GTATTTTA others(33): Show |
G | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 410 | 0.0024 | -40 | c.340 others(57): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CETP_chr16_56956950_56988845 | 56959938 | GGAAAGAA others(33): Show |
G | upstream_gene_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0135 | 1 | 462 | 0.0022 | -40 | c.-20 others(51): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 2011 | chr16 | TogoVar | ||||||
CFAP100_chr3_126389909_126441556 | 126401397 | TTATATAT others(33): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG06807.hp2 |
a0001a0014 | a0001c0001a0014c0020 | a0001c0001t0001a0014c0020t0001 | a0001c0001t0001g0209a0014c0020t0001g0078 | 2 | 422 | 0.0047 | -40 | c.49+ others(55): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP141_chr1_154194085_154211333 | 154203172 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 372 | 0.0027 | -40 | c.74+ others(55): Show |
CFAP141 | ENSG00000163263.7 | transcript | ENST00000368525.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132820513 | AGTGCTGA others(33): Show |
A | intron_variant | MODIFIER | HG03017.hp1 | a0051 | a0051c0105 | a0051c0105t0001 | a0051c0105t0001g0239 | 1 | 246 | 0.0041 | -40 | c.711 others(59): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132881600 | AGGGTTAG others(33): Show |
A | intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0045 | a0002c0045t0001 | a0002c0045t0001g0200 | 1 | 246 | 0.0041 | -40 | c.362 others(57): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 27/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132881656 | GCACCCTC others(33): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(76): Show |
a0002a0003a0004others(18): Show | a0002c0002a0002c0003a0002c0023others(27): Show | a0002c0002t0001a0002c0003t0001a0002c0023t0001others(29): Show | a0002c0002t0001g0126a0002c0002t0001g0141a0002c0002t0001g0159others(75): Show | 79 | 246 | 0.3211 | -40 | c.362 others(57): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 27/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132887182 | TTCTCTCT others(33): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(6): Show |
a0011a0019a0035others(2): Show | a0011c0010a0019c0020a0035c0057others(2): Show | a0011c0010t0001a0019c0020t0001a0035c0057t0001others(2): Show | a0011c0010t0001g0197a0011c0010t0001g0198a0011c0010t0001g0202others(6): Show | 9 | 246 | 0.0366 | -40 | c.330 others(59): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35923884 | CATATATA others(33): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0190 | 1 | 216 | 0.0046 | -40 | c.250 others(57): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 1/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar |