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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAMK1D_chr10_12344547_12840545 | 12691352 | TATATATA others(45): Show |
T | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0113 | a0001c0001t0113g0034 | 1 | 214 | 0.0047 | -52 | c.299 others(71): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12827464 | GTCTGTCT others(45): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01106.hp2 HG01256.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0012a0001c0001t0017a0001c0001t0033others(9): Show | a0001c0001t0012g0132a0001c0001t0012g0174a0001c0001t0017g0159others(14): Show | 17 | 214 | 0.0794 | -52 | c.104 others(71): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK2B_chr7_44212154_44330594 | 44227326 | GGGGTGTG others(45): Show |
G | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0007 | a0001c0007t0009 | a0001c0007t0009g0086 | 1 | 242 | 0.0041 | -52 | c.146 others(69): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44409080 | GATATATA others(45): Show |
G | intron_variant | MODIFIER | HG02004.hp2 HG02683.hp2 HG02976.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0136a0001c0001t0001g0150a0001c0001t0001g0152others(5): Show | 8 | 198 | 0.0404 | -52 | c.376 others(71): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMSAP2_chr1_200733893_200865704 | 200816810 | ATATGTGT others(45): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01175.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214a0001c0001t0001g0304 | 2 | 366 | 0.0055 | -52 | c.645 others(69): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMSAP2_chr1_200733893_200865704 | 200817209 | CATACACA others(45): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(64): Show |
a0001a0006a0008 | a0001c0001a0006c0007a0008c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0306a0001c0001t0003g0031a0001c0001t0003g0032others(64): Show | 67 | 366 | 0.1831 | -52 | c.645 others(69): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPZA2_chr7_116857587_116927049 | 116890555 | TATATATA others(45): Show |
T | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0049 | 1 | 354 | 0.0028 | -52 | c.103 others(69): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CASZ1_chr1_10631604_10801646 | 10744679 | TGGGCACC others(45): Show |
T | intron_variant | MODIFIER | HG01358.hp1 HG02622.hp2 HG02922.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0008a0001c0001t0013a0001c0002t0007others(2): Show | a0001c0001t0008g0032a0001c0001t0013g0042a0001c0002t0007g0060others(2): Show | 5 | 236 | 0.0212 | -52 | c.-77 others(71): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244582910 | GATATATA others(45): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(90): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0013others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0020others(90): Show | 93 | 206 | 0.4515 | -52 | c.201 others(69): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CBFA2T3_chr16_88869858_88982207 | 88956960 | AAGTGGCT others(45): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01261.hp2 HG02486.hp2 others(4): Show |
a0001a0005 | a0001c0001a0005c0012 | a0001c0001t0001a0005c0012t0001 | a0001c0001t0001g0019a0001c0001t0001g0118a0001c0001t0001g0120others(4): Show | 7 | 284 | 0.0247 | -52 | c.151 others(71): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88967109 | AACCCCCA others(45): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG02004.hp1 HG02818.hp1 others(5): Show |
a0001a0008 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0017others(4): Show | a0001c0001t0001g0127a0001c0001t0001g0228a0001c0001t0010g0040others(5): Show | 8 | 284 | 0.0282 | -52 | c.151 others(69): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CCDC195_chr2_224698764_224721365 | 224720724 | CATTCCCC others(45): Show |
C | upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0151 | 1 | 412 | 0.0024 | -52 | c.-44 others(63): Show |
CCDC195 | ENSG00000283428.1 | transcript | ENST00000638102.1 | protein_coding | 4360 | chr2 | TogoVar | ||||||
CCDC47_chr17_63740255_63778597 | 63759508 | AATATATA others(45): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02723.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0198a0001c0002t0001g0199a0001c0002t0001g0200others(1): Show | 4 | 352 | 0.0114 | -52 | c.735 others(69): Show |
CCDC47 | ENSG00000108588.15 | transcript | ENST00000225726.10 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
CCDC57_chr17_82096470_82217842 | 82160327 | AAGACAGG others(45): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00558.hp1 others(118): Show |
a0001a0004a0005others(7): Show | a0001c0001a0001c0023a0001c0027others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0023t0001others(11): Show | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0073others(118): Show | 121 | 252 | 0.4802 | -52 | c.204 others(71): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 13/18 | chr17 | TogoVar | ||||||
CCDC73_chr11_32597721_32799662 | 32755613 | GTGTGTAT others(45): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01256.hp2 others(43): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0172a0001c0001t0001g0173a0001c0001t0001g0175others(43): Show | 46 | 312 | 0.1474 | -52 | c.135 others(69): Show |
CCDC73 | ENSG00000186714.13 | transcript | ENST00000335185.10 | protein_coding | 2/17 | chr11 | TogoVar | ||||||
CCDC73_chr11_32597721_32799662 | 32755903 | CTATATAT others(45): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01168.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0112a0001c0003t0001g0113a0001c0003t0001g0118others(3): Show | 6 | 312 | 0.0192 | -52 | c.135 others(69): Show |
CCDC73 | ENSG00000186714.13 | transcript | ENST00000335185.10 | protein_coding | 2/17 | chr11 | TogoVar | ||||||
CCDC88A_chr2_55282842_55424856 | 55384551 | GTATATAT others(45): Show |
G | intron_variant | MODIFIER | HG02818.hp1 HG02886.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0006a0001c0001t0018g0007a0001c0001t0018g0008 | 3 | 316 | 0.0095 | -52 | c.273 others(69): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 3/32 | chr2 | TogoVar | ||||||
CCDC93_chr2_117910481_118019070 | 117911613 | AATCCAGC others(45): Show |
A | downstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0129 | 1 | 322 | 0.0031 | -52 | c.*86 others(63): Show |
CCDC93 | ENSG00000125633.11 | transcript | ENST00000376300.7 | protein_coding | 3867 | chr2 | TogoVar | ||||||
CCL11_chr17_34280742_34293334 | 34290168 | TCCAGGAG others(45): Show |
T | downstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 1 | 448 | 0.0022 | -52 | c.*24 others(63): Show |
CCL11 | ENSG00000172156.4 | transcript | ENST00000305869.4 | protein_coding | 1835 | chr17 | TogoVar | ||||||
CCND3_chr6_41929952_41946808 | 41930970 | CGTGATGA others(45): Show |
C | downstream_gene_variant | MODIFIER | HG02056.hp2 NA18943.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 3 | 456 | 0.0066 | -52 | c.*49 others(63): Show |
CCND3 | ENSG00000112576.13 | transcript | ENST00000372991.9 | protein_coding | 3981 | chr6 | TogoVar | ||||||
CCNP_chr19_40217208_40231689 | 40222083 | TTTTATCT others(45): Show |
T | downstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 414 | 0.0024 | -52 | c.*91 others(61): Show |
CCNP | ENSG00000105219.10 | transcript | ENST00000430325.7 | protein_coding | 124 | chr19 | TogoVar | ||||||
CCNY_chr10_35331509_35577667 | 35518851 | AGTATCTG others(45): Show |
A | intron_variant | MODIFIER | HG01346.hp2 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0186a0001c0002t0001g0216 | 2 | 296 | 0.0068 | -52 | c.365 others(69): Show |
CCNY | ENSG00000108100.18 | transcript | ENST00000374704.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCSER1_chr4_90122394_91610295 | 90276211 | TTTCTTTC others(45): Show |
T | intron_variant | MODIFIER | HG02886.hp2 HG03209.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0013 | a0001c0001t0007g0036a0001c0001t0009g0037a0001c0001t0013g0035 | 3 | 38 | 0.0790 | -52 | c.-41 others(71): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CD2AP_chr6_47472789_47632263 | 47505587 | ACCTCCCG others(45): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01496.hp1 HG01928.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0006a0001c0001t0002g0008a0001c0001t0002g0062others(2): Show | 5 | 322 | 0.0155 | -52 | c.165 others(69): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDC23_chr5_138182650_138218323 | 138195554 | TATATATA others(45): Show |
T | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 392 | 0.0026 | -52 | c.101 others(71): Show |
CDC23 | ENSG00000094880.11 | transcript | ENST00000394886.7 | protein_coding | 9/15 | chr5 | TogoVar | ||||||
CDC73_chr1_193117031_193259815 | 193161730 | ATATATAA others(45): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 NA18954.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0023others(2): Show | 5 | 274 | 0.0183 | -52 | c.972 others(69): Show |
CDC73 | ENSG00000134371.14 | transcript | ENST00000367435.5 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CDCP1_chr3_45077277_45151378 | 45108800 | TATATATG others(45): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0258 | 1 | 384 | 0.0026 | -52 | c.102 others(71): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 4/8 | chr3 | TogoVar | ||||||
CDH18_chr5_19466296_19993200 | 19960713 | ATACACGT others(45): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02896.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0016a0001c0005t0006 | a0001c0004t0016g0023a0001c0005t0006g0004a0001c0005t0006g0005others(1): Show | 4 | 138 | 0.0290 | -52 | c.-25 others(73): Show |
CDH18 | ENSG00000145526.12 | transcript | ENST00000382275.6 | protein_coding | 2/12 | chr5 | TogoVar | ||||||
CDH23_chr10_71391920_71820947 | 71403380 | TTTCTTTC others(45): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01123.hp2 |
a0001a0083 | a0001c0001a0083c0065 | a0001c0001t0032a0083c0065t0033 | a0001c0001t0032g0037a0083c0065t0033g0038 | 2 | 196 | 0.0102 | -52 | c.-6+ others(67): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 1/69 | chr10 | TogoVar | ||||||
CDH26_chr20_59953423_60019529 | 59967993 | TTCTTTCT others(45): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0049 | 1 | 288 | 0.0035 | -52 | c.70- others(65): Show |
CDH26 | ENSG00000124215.17 | transcript | ENST00000348616.9 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH3_chr16_68640310_68705292 | 68683654 | AAAAAAAA others(45): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG02015.hp2 HG03491.hp2 |
a0002a0003 | a0002c0002a0002c0009a0003c0008 | a0002c0002t0004a0002c0009t0003a0003c0008t0001 | a0002c0002t0004g0211a0002c0009t0003g0024a0003c0008t0001g0056 | 3 | 338 | 0.0089 | -52 | c.118 others(69): Show |
CDH3 | ENSG00000062038.15 | transcript | ENST00000264012.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61675289 | ATGGAAAC others(45): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(12): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0011others(6): Show | a0001c0001t0002a0001c0001t0014a0001c0003t0032others(12): Show | a0001c0001t0002g0076a0001c0001t0014g0106a0001c0003t0032g0040others(12): Show | 15 | 106 | 0.1415 | -52 | c.170 others(71): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH7_chr18_65746012_65895337 | 65778238 | CTCCAGCA others(45): Show |
C | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0199 | 1 | 208 | 0.0048 | -52 | c.210 others(71): Show |
CDH7 | ENSG00000081138.14 | transcript | ENST00000397968.4 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
CDIN1_chr15_36574626_36815244 | 36662440 | CCAGTATG others(45): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(233): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0104a0001c0001t0001g0105a0001c0001t0001g0109others(233): Show | 236 | 238 | 0.9916 | -52 | c.346 others(69): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CDK11A_chr1_1697379_1729357 | 1721291 | TAGCACAC others(45): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0007 | a0007c0024 | a0007c0024t0003 | a0007c0024t0003g0149 | 1 | 372 | 0.0027 | -52 | c.227 others(67): Show |
CDK11A | ENSG00000008128.23 | transcript | ENST00000404249.8 | protein_coding | 3/19 | chr1 | TogoVar | ||||||
CDK12_chr17_39456486_39539544 | 39481660 | CTCTCTCT others(45): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp1 HG02630.hp1 others(6): Show |
a0001a0007 | a0001c0002a0007c0006 | a0001c0002t0021a0001c0002t0023a0001c0002t0025others(3): Show | a0001c0002t0021g0005a0001c0002t0021g0021a0001c0002t0023g0256others(6): Show | 9 | 260 | 0.0346 | -52 | c.193 others(71): Show |
CDK12 | ENSG00000167258.16 | transcript | ENST00000447079.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CDK5RAP1_chr20_33353839_33406519 | 33403433 | ATCCTAGG others(45): Show |
A | upstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0096 | 1 | 358 | 0.0028 | -52 | c.-20 others(63): Show |
CDK5RAP1 | ENSG00000101391.21 | transcript | ENST00000346416.7 | protein_coding | 1915 | chr20 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39185241 | CATATATA others(45): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0277 | 1 | 290 | 0.0035 | -52 | c.736 others(67): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39185363 | TATATATA others(45): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 290 | 0.0035 | -52 | c.736 others(67): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39185389 | TGTATATA others(45): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(149): Show |
a0001a0003a0005 | a0001c0001a0001c0008a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(147): Show | 152 | 290 | 0.5241 | -52 | c.736 others(67): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4895378 | TATATATG others(45): Show |
T | intron_variant | MODIFIER | HG02698.hp1 NA18941.hp2 NA18953.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0046a0001c0001t0001g0082a0001c0001t0001g0097others(10): Show | 13 | 250 | 0.0520 | -52 | c.691 others(69): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEACAM18_chr19_51473539_51496301 | 51495246 | TGGACGGG others(45): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01433.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0004a0003c0003t0004 | a0001c0001t0002g0001a0001c0001t0004g0002a0003c0003t0004g0085 | 3 | 420 | 0.0071 | -52 | c.*45 others(63): Show |
CEACAM18 | ENSG00000213822.7 | transcript | ENST00000396477.5 | protein_coding | 3946 | chr19 | TogoVar | ||||||
CEACAM20_chr19_44501159_44534675 | 44521145 | ATTGTTTG others(45): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0025 | a0025c0040 | a0025c0040t0001 | a0025c0040t0001g0334 | 1 | 438 | 0.0023 | -52 | c.752 others(67): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 4/11 | chr19 | TogoVar | ||||||
CEACAM20_chr19_44501159_44534675 | 44532541 | AAGGAAAG others(45): Show |
A | upstream_gene_variant | MODIFIER | NA18964.hp1 | a0009 | a0009c0007 | a0009c0007t0001 | a0009c0007t0001g0071 | 1 | 438 | 0.0023 | -52 | c.-30 others(63): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 2867 | chr19 | TogoVar | ||||||
CELF1_chr11_47460937_47558132 | 47541717 | AGAAAGAA others(45): Show |
A | intron_variant | MODIFIER | HG01978.hp2 HG03486.hp2 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139a0001c0001t0001g0169a0001c0001t0001g0179 | 3 | 340 | 0.0088 | -52 | c.-15 others(73): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71728250 | TGTATATA others(45): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0005 | a0005c0017 | a0005c0017t0048 | a0005c0017t0048g0292 | 1 | 320 | 0.0031 | -52 | c.204 others(71): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 10/23 | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92552055 | CATATATG others(45): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG00639.hp2 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(10): Show | a0001c0001t0001g0149a0001c0001t0001g0151a0001c0001t0001g0152others(58): Show | 61 | 260 | 0.2346 | -52 | c.565 others(71): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CEP170B_chr14_104860268_104901747 | 104862052 | TACCCTCT others(45): Show |
T | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01069.hp2 HG01071.hp2 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0017a0001c0019a0001c0020others(11): Show | a0001c0017t0002a0001c0019t0002a0001c0020t0002others(11): Show | a0001c0017t0002g0170a0001c0017t0002g0173a0001c0017t0002g0174others(18): Show | 21 | 328 | 0.0640 | -52 | c.-34 others(63): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 3215 | chr14 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104884561 | CGGCGAGT others(45): Show |
C | intron_variant | MODIFIER | NA18964.hp1 | a0016 | a0016c0076 | a0016c0076t0004 | a0016c0076t0004g0058 | 1 | 328 | 0.0031 | -52 | c.177 others(67): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CEP170B_chr14_104860268_104901747 | 104884741 | CCGGGGGT others(45): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(55): Show |
a0001a0002a0006others(3): Show | a0001c0002a0001c0003a0001c0010others(11): Show | a0001c0002t0002a0001c0003t0002a0001c0003t0020others(13): Show | a0001c0002t0002g0005a0001c0002t0002g0180a0001c0002t0002g0182others(43): Show | 58 | 328 | 0.1768 | -52 | c.177 others(69): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 9/18 | chr14 | TogoVar |