view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDC73_chr1_193117031_193259815 | 193162084 | ATATTATA others(28): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0041 | 1 | 108 | 0.0093 | -35 | c.972 others(52): Show |
CDC73 | ENSG00000134371.14 | transcript | ENST00000367435.5 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CDCP2_chr1_54127687_54158000 | 54154378 | CTTTATTT others(28): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(286): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0008a0001c0009others(18): Show | a0001c0001t0001a0001c0001t0004a0001c0008t0001others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(183): Show |
289 | 316 | 0.9146 | -35 | c.-14 others(46): Show |
CDCP2 | ENSG00000157211.12 | transcript | ENST00000530059.3 | protein_coding | 1379 | chr1 | TogoVar | |||||||
CDH11_chr16_64938753_65127063 | 65118442 | CCCCTAAT others(28): Show |
C | intron_variant | MODIFIER | HG01099.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0305 | 1 | 306 | 0.0033 | -35 | c.-29 others(54): Show |
CDH11 | ENSG00000140937.14 | transcript | ENST00000268603.9 | protein_coding | 1/12 | chr16 | TogoVar | |||||||
CDH13_chr16_82621969_83805640 | 83602082 | CAAAAAAA others(28): Show |
C | intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0099 | 1 | 21 | 0.0476 | -35 | c.961 others(50): Show |
CDH13 | ENSG00000140945.17 | transcript | ENST00000567109.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH2_chr18_27945966_28182130 | 28103215 | CATATATA others(28): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0080 | 1 | 265 | 0.0038 | -35 | c.172 others(54): Show |
CDH2 | ENSG00000170558.10 | transcript | ENST00000269141.8 | protein_coding | 2/15 | chr18 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61565331 | ATGGTGGT others(28): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp2 HG02040.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0024 | a0001c0001t0002a0001c0001t0013a0002c0004t0021others(1): Show | a0001c0001t0002g0075 a0001c0001t0013g0106 a0002c0004t0021g0050 others(1): Show |
4 | 101 | 0.0396 | -35 | c.170 others(56): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH7_chr18_65746012_65895337 | 65849339 | TTTTTCTT others(28): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG02976.hp1 others(3): Show |
a0002 | a0002c0002a0002c0004a0002c0018 | a0002c0002t0052a0002c0002t0096a0002c0004t0017others(2): Show | a0002c0002t0052g0084 a0002c0002t0096g0154 a0002c0004t0017g0019 others(3): Show |
6 | 129 | 0.0465 | -35 | c.123 others(54): Show |
CDH7 | ENSG00000081138.14 | transcript | ENST00000397968.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CDH8_chr16_61642250_62041438 | 61983879 | CTTTATTT others(28): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG02080.hp2 HG02109.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(7): Show | a0001c0001t0001g0037 a0001c0001t0006g0168 a0001c0001t0017g0014 others(7): Show |
10 | 52 | 0.1923 | -35 | c.252 others(54): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 2/11 | chr16 | TogoVar | |||||||
CDHR2_chr5_176544342_176600824 | 176585770 | GCGGGGCA others(28): Show |
G | intron_variant | MODIFIER | NA19084.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0222 | 1 | 342 | 0.0029 | -35 | c.273 others(52): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 19/31 | chr5 | TogoVar | |||||||
CDHR2_chr5_176544342_176600824 | 176592355 | TAGTGATG others(28): Show |
T | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0247 | 1 | 342 | 0.0029 | -35 | c.373 others(52): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | chr5 | TogoVar | |||||||
CDK12_chr17_39456486_39539544 | 39481682 | CTCTCTCT others(28): Show |
C | intron_variant | MODIFIER | HG02132.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0115 a0001c0001t0004g0086 |
2 | 256 | 0.0078 | -35 | c.193 others(54): Show |
CDK12 | ENSG00000167258.16 | transcript | ENST00000447079.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CDK14_chr7_90591321_91215590 | 91027798 | TCCCCTCC others(28): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0022 a0001c0001t0006g0013 |
2 | 166 | 0.0120 | -35 | c.104 others(56): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4900805 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 244 | 0.0041 | -35 | c.691 others(52): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEACAM19_chr19_44666482_44689355 | 44668531 | AATATATG others(28): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02055.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0014 | a0001c0001t0004g0006 a0001c0001t0004g0019 a0001c0001t0004g0046 others(10): Show |
25 | 380 | 0.0658 | -35 | c.-34 others(46): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 2950 | chr19 | TogoVar | |||||||
CEACAM20_chr19_44501159_44534675 | 44532530 | GAAAGGAA others(28): Show |
G | upstream_gene_variant | MODIFIER | HG00621.hp1 NA18952.hp2 NA18957.hp2 others(3): Show |
a0003a0004a0012 | a0003c0004a0004c0003a0012c0016 | a0003c0004t0001a0004c0003t0001a0012c0016t0001 | a0003c0004t0001g0001 a0003c0004t0001g0051 a0004c0003t0001g0271 others(1): Show |
6 | 435 | 0.0138 | -35 | c.-30 others(46): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 2856 | chr19 | TogoVar | |||||||
CELF4_chr18_37238040_37570798 | 37491142 | ATGCCCAC others(28): Show |
A | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0166 | 1 | 182 | 0.0055 | -35 | c.287 others(52): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
CENPF_chr1_214598195_214669571 | 214616904 | TCTTTCTT others(28): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG02895.hp2 HG02897.hp2 others(1): Show |
a0004a0013 | a0004c0004a0013c0018 | a0004c0004t0002a0013c0018t0002 | a0004c0004t0002g0190 a0004c0004t0002g0191 a0004c0004t0002g0193 others(1): Show |
4 | 280 | 0.0143 | -35 | c.360 others(52): Show |
CENPF | ENSG00000117724.15 | transcript | ENST00000366955.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CENPO_chr2_24788425_24827376 | 24822749 | AAGTTGTT others(28): Show |
A | downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 380 | 0.0026 | -35 | c.*34 others(46): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 374 | chr2 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81209556 | ACTAAGCA others(28): Show |
A | intron_variant | MODIFIER | NA19082.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0273 | 1 | 376 | 0.0027 | -35 | c.178 others(50): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 2/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81209859 | GGAGAAGC others(28): Show |
G | intron_variant | MODIFIER | HG02735.hp2 HG03239.hp1 HG03491.hp2 others(3): Show |
a0010a0033 | a0010c0013a0033c0068 | a0010c0013t0004a0033c0068t0004 | a0010c0013t0004g0333 a0010c0013t0004g0334 a0010c0013t0004g0335 others(3): Show |
6 | 382 | 0.0157 | -35 | c.178 others(50): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 2/25 | chr17 | TogoVar | |||||||
CERK_chr22_46679410_46743252 | 46725238 | AGGAGATA others(28): Show |
A | intron_variant | MODIFIER | HG01943.hp1 HG02647.hp1 HG03516.hp2 |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0025a0001c0003t0054 | a0001c0003t0006g0260 a0001c0003t0025g0259 a0001c0003t0054g0261 |
3 | 338 | 0.0089 | -35 | c.143 others(52): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 1/12 | chr22 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100407745 | TATTTACA others(28): Show |
T | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0301 | 1 | 360 | 0.0028 | -35 | c.100 others(54): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100466423 | ACTGCTCC others(28): Show |
A | intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 | 1 | 360 | 0.0028 | -35 | c.845 others(52): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CFAP141_chr1_154194085_154211333 | 154203171 | AAATATAT others(28): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 361 | 0.0028 | -35 | c.74+ others(50): Show |
CFAP141 | ENSG00000163263.7 | transcript | ENST00000368525.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
CFAP410_chr21_44323944_44344390 | 44338773 | CCCCGCCC others(28): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02559.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0039 a0001c0001t0001g0202 a0001c0001t0001g0203 others(1): Show |
5 | 433 | 0.0115 | -35 | c.77+ others(48): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 1/6 | chr21 | TogoVar | |||||||
CFAP410_chr21_44323944_44344390 | 44338878 | TCCCGCCC others(28): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0201 | 1 | 433 | 0.0023 | -35 | c.77+ others(48): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 1/6 | chr21 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132827939 | GGCGTAAT others(28): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG01261.hp1 NA19004.hp2 others(1): Show |
a0009a0019a0075 | a0009c0043a0019c0027a0075c0098 | a0009c0043t0001a0019c0027t0002a0075c0098t0002 | a0009c0043t0001g0209 a0019c0027t0002g0026 a0019c0027t0002g0078 others(1): Show |
4 | 244 | 0.0164 | -35 | c.711 others(54): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132843442 | AGTGGGCG others(28): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01243.hp1 HG01891.hp2 others(14): Show |
a0016a0022a0023others(9): Show | a0016c0026a0016c0094a0022c0078others(12): Show | a0016c0026t0002a0016c0094t0001a0022c0078t0002others(12): Show | a0016c0026t0002g0097 a0016c0026t0002g0099 a0016c0094t0001g0118 others(14): Show |
17 | 244 | 0.0697 | -35 | c.643 others(54): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 44/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132880630 | AGGGCCCC others(28): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(118): Show |
a0001a0002a0003others(39): Show | a0001c0001a0001c0032a0001c0085others(58): Show | a0001c0001t0002a0001c0032t0002a0001c0085t0002others(60): Show | a0001c0001t0002g0027 a0001c0001t0002g0045 a0001c0001t0002g0046 others(117): Show |
121 | 241 | 0.5021 | -35 | c.379 others(52): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 28/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132887145 | ACTTCTCT others(28): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(109): Show |
a0002a0003a0004others(34): Show | a0002c0002a0002c0003a0002c0023others(50): Show | a0002c0002t0001a0002c0003t0001a0002c0023t0001others(52): Show | a0002c0002t0001g0126 a0002c0002t0001g0134 a0002c0002t0001g0137 others(108): Show |
112 | 244 | 0.4590 | -35 | c.330 others(54): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132917898 | TGCACCTC others(28): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp2 HG02074.hp1 others(2): Show |
a0007a0008a0009others(2): Show | a0007c0008a0008c0097a0009c0021others(2): Show | a0007c0008t0002a0008c0097t0001a0009c0021t0001others(2): Show | a0007c0008t0002g0049 a0008c0097t0001g0120 a0009c0021t0001g0244 others(2): Show |
5 | 206 | 0.0243 | -35 | c.198 others(52): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 16/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132942356 | TCCGGGGC others(28): Show |
T | intron_variant | MODIFIER | HG02615.hp2 | a0050 | a0050c0071 | a0050c0071t0002 | a0050c0071t0002g0003 | 1 | 127 | 0.0079 | -35 | c.49+ others(46): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 1/57 | chr10 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20254011 | TCCCTCCT others(28): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00735.hp2 others(66): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0024others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0203 others(66): Show |
69 | 219 | 0.3151 | -35 | c.232 others(54): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP69_chr7_90240174_90316063 | 90290743 | GTCTTTTC others(28): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG02896.hp2 HG02897.hp2 others(8): Show |
a0002a0006 | a0002c0001a0006c0008 | a0002c0001t0001a0006c0008t0002 | a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0079 others(7): Show |
11 | 13 | 0.8462 | -35 | c.177 others(54): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFAP70_chr10_73248762_73363864 | 73284750 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 | 1 | 211 | 0.0047 | -35 | c.244 others(54): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 20/27 | chr10 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1981785 | GCCGCGGT others(28): Show |
G | intron_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0207 | 1 | 276 | 0.0036 | -35 | c.500 others(52): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 6/38 | chr1 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132486039 | TATGTATG others(28): Show |
T | intron_variant | MODIFIER | HG02135.hp1 HG02135.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0234 a0002c0003t0001g0235 |
2 | 307 | 0.0065 | -35 | c.196 others(54): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132486041 | TGTATGTA others(28): Show |
T | intron_variant | MODIFIER | HG03486.hp2 NA20905.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0290 a0001c0002t0001g0040 |
2 | 313 | 0.0064 | -35 | c.196 others(54): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132486043 | TATGTATA others(28): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0148 | 1 | 313 | 0.0032 | -35 | c.196 others(54): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132486045 | TGTATATG others(28): Show |
T | intron_variant | MODIFIER | NA18997.hp2 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 a0001c0001t0001g0155 |
2 | 317 | 0.0063 | -35 | c.196 others(54): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
CGA_chr6_87080498_87100106 | 87094518 | ATGCTACT others(28): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 418 | 0.0024 | -35 | c.-8+ others(48): Show |
CGA | ENSG00000135346.9 | transcript | ENST00000627148.3 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
CGB2_chr19_49026890_49038238 | 49033021 | GTCTCCTA others(28): Show |
G | frameshift_variant | HIGH | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 374 | 0.0027 | -35 | c.293 others(42): Show |
p.Val others(4): Show |
CGB2 | ENSG00000104818.15 | transcript | ENST00000359342.7 | protein_coding | 3/3 | 499/715 | 293/492 | 98/163 | chr19 | TogoVar | |||
CHD8_chr14_21380199_21461123 | 21454162 | AAAAAGAA others(28): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 54 | 0.0185 | -35 | c.-21 others(54): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | |||||||
CHEK1_chr11_125620163_125662147 | 125662094 | GTCATTAT others(28): Show |
G | downstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0019 | 1 | 382 | 0.0026 | -35 | c.*67 others(46): Show |
CHEK1 | ENSG00000149554.15 | transcript | ENST00000438015.7 | protein_coding | 4948 | chr11 | TogoVar | |||||||
CHFR_chr12_132827356_132892605 | 132835828 | CAGGCTCC others(28): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG02040.hp1 |
a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0148 a0001c0001t0050g0155 |
2 | 376 | 0.0053 | -35 | c.*56 others(46): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 18/18 | 5691 | chr12 | TogoVar | ||||||
CHFR_chr12_132827356_132892605 | 132835842 | AGCGCACG others(28): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01175.hp1 HG06807.hp1 |
a0001 | a0001c0004 | a0001c0004t0035 | a0001c0004t0035g0208 a0001c0004t0035g0210 |
2 | 338 | 0.0059 | -35 | c.*56 others(46): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 18/18 | 5677 | chr12 | TogoVar | ||||||
CHFR_chr12_132827356_132892605 | 132835997 | GAGTGCCA others(28): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02559.hp2 HG02976.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0021 | a0001c0005t0021g0014 a0001c0005t0021g0184 a0001c0005t0021g0185 |
4 | 230 | 0.0174 | -35 | c.*55 others(46): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 18/18 | 5522 | chr12 | TogoVar | ||||||
CHFR_chr12_132827356_132892605 | 132836107 | CCAGGCTC others(28): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02559.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0072a0001c0001t0073others(1): Show | a0001c0001t0010g0006 a0001c0001t0010g0036 a0001c0001t0010g0037 others(6): Show |
10 | 205 | 0.0488 | -35 | c.*54 others(46): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 18/18 | 5412 | chr12 | TogoVar | ||||||
CHFR_chr12_132827356_132892605 | 132836202 | ACTCACAG others(28): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02723.hp2 HG02970.hp2 others(1): Show |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0023a0007c0012t0070 | a0001c0001t0023g0001 a0007c0012t0070g0025 |
4 | 332 | 0.0120 | -35 | c.*53 others(46): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 18/18 | 5317 | chr12 | TogoVar | ||||||
CHI3L2_chr1_111222713_111248440 | 111245805 | CCTTTCCT others(28): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(256): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0019 others(91): Show |
259 | 432 | 0.5995 | -35 | c.*25 others(46): Show |
CHI3L2 | ENSG00000064886.14 | transcript | ENST00000369748.9 | protein_coding | 2366 | chr1 | TogoVar |