view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCL9_chr1_147536501_147631216 | 147541078 | AGAGAGAA others(34): Show |
A | upstream_gene_variant | MODIFIER | HG01071.hp1 NA19002.hp2 NA19004.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0004a0003c0004t0001 | a0001c0001t0004g0083a0001c0001t0004g0190a0003c0004t0001g0135 | 3 | 316 | 0.0095 | -41 | c.-10 others(52): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 422 | chr1 | TogoVar | |||||||
BDH1_chr3_197504783_197560968 | 197510643 | TGTGTGTG others(34): Show |
T | 3_prime_UTR_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0098 | a0001c0001t0098g0035 | 1 | 319 | 0.0031 | -41 | c.*12 others(52): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1211 | chr3 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22646872 | TTCTGGAG others(34): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG03209.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0292a0001c0001t0007g0324a0001c0001t0007g0325others(2): Show | 5 | 386 | 0.0130 | -41 | c.9-2 others(54): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
BMERB1_chr16_15429588_15593259 | 15591954 | ATATATAT others(34): Show |
A | downstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 291 | 0.0034 | -41 | c.*51 others(52): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3696 | chr16 | TogoVar | |||||||
BMPER_chr7_33900539_34161427 | 34024381 | AACAATAT others(34): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 1 | 232 | 0.0043 | -41 | c.577 others(60): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16539619 | AAGGGAGG others(34): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01106.hp1 HG01123.hp2 others(32): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0044others(32): Show | 35 | 176 | 0.1989 | -41 | c.669 others(60): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
BOD1L1_chr4_13563738_13632725 | 13573478 | TTCTTTCT others(34): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0008 | a0008c0009 | a0008c0009t0002 | a0008c0009t0002g0220 | 1 | 258 | 0.0039 | -41 | c.903 others(60): Show |
BOD1L1 | ENSG00000038219.13 | transcript | ENST00000040738.10 | protein_coding | 25/25 | chr4 | TogoVar | |||||||
BOK_chr2_241553745_241579131 | 241573308 | CGGAACAC others(34): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0007 | a0001c0007t0045 | a0001c0007t0045g0109 | 1 | 434 | 0.0023 | -41 | c.*89 others(50): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 5/5 | 897 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BRD8_chr5_138134770_138183630 | 138161341 | ATGGTTCA others(34): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0354 | 1 | 378 | 0.0027 | -41 | c.225 others(58): Show |
BRD8 | ENSG00000112983.18 | transcript | ENST00000254900.10 | protein_coding | 17/26 | chr5 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105285766 | TAAATCAC others(34): Show |
T | intron_variant | MODIFIER | HG03834.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0039 | 2 | 72 | 0.0278 | -41 | c.265 others(56): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190195249 | AAAAAGAT others(34): Show |
A | intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 240 | 0.0042 | -41 | c.961 others(60): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39217038 | TATATATA others(34): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0004 | a0004c0003 | a0004c0003t0027 | a0004c0003t0027g0005 | 1 | 338 | 0.0030 | -41 | c.365 others(60): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | |||||||
BTF3_chr5_73493442_73510667 | 73494677 | ATGCACTA others(34): Show |
A | upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 408 | 0.0025 | -41 | c.-39 others(52): Show |
BTF3 | ENSG00000145741.17 | transcript | ENST00000380591.8 | protein_coding | 3764 | chr5 | TogoVar | |||||||
C11orf68_chr11_65911810_65924062 | 65916073 | GGCCCAGT others(34): Show |
G | downstream_gene_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 406 | 0.0025 | -41 | c.*13 others(52): Show |
C11orf68 | ENSG00000175573.7 | transcript | ENST00000438576.3 | protein_coding | 736 | chr11 | TogoVar | |||||||
C11orf71_chr11_114393532_114405511 | 114394223 | CTTTTCTT others(34): Show |
C | downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0000 | 1 | 422 | 0.0024 | -41 | c.*56 others(52): Show |
C11orf71 | ENSG00000180425.11 | transcript | ENST00000623205.2 | protein_coding | 4308 | chr11 | TogoVar | |||||||
C21orf58_chr21_46296130_46328870 | 46302707 | TCCGTCTG others(34): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(211): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0010others(186): Show | 214 | 378 | 0.5661 | -41 | c.722 others(56): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 6/7 | chr21 | TogoVar | |||||||
C21orf58_chr21_46296130_46328870 | 46302920 | CACACGGT others(34): Show |
C | intron_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0162 | 1 | 378 | 0.0027 | -41 | c.722 others(56): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 6/7 | chr21 | TogoVar | |||||||
C2orf16_chr2_27532386_27587722 | 27557875 | CTCCCCCC others(34): Show |
C | intron_variant | MODIFIER | HG02135.hp1 HG03704.hp2 HG03710.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054a0001c0001t0001g0066a0001c0001t0001g0083others(8): Show | 11 | 326 | 0.0337 | -41 | c.145 others(58): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
C3orf70_chr3_185071838_185158060 | 185091927 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 388 | 0.0026 | -41 | c.197 others(58): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1000302 | GACCTCAG others(34): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01934.hp1 HG02083.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0003g0289a0001c0001t0003g0290a0001c0001t0004g0176others(31): Show | 34 | 326 | 0.1043 | -41 | c.405 others(56): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 4/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1000401 | GGACGTGC others(34): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00733.hp1 others(35): Show |
a0001a0008a0009 | a0001c0001a0008c0009a0009c0003 | a0001c0001t0006a0001c0001t0009a0001c0001t0011others(3): Show | a0001c0001t0006g0030a0001c0001t0006g0064a0001c0001t0006g0081others(35): Show | 38 | 326 | 0.1166 | -41 | c.405 others(54): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 4/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1099090 | GCGGCCTC others(34): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01256.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0063a0001c0001t0001g0067a0001c0001t0002g0280others(11): Show | 14 | 326 | 0.0429 | -41 | c.129 others(60): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 138113038 | AGAGACGT others(34): Show |
A | intron_variant | MODIFIER | HG00280.hp2 NA19079.hp1 |
a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0044a0001c0007t0003g0225 | 2 | 248 | 0.0081 | -41 | c.553 others(58): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12801313 | CTATCTAT others(34): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0089a0001c0001t0109 | a0001c0001t0089g0035a0001c0001t0109g0161 | 2 | 214 | 0.0094 | -41 | c.641 others(60): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMKK1_chr17_3855315_3898053 | 3868028 | CGCCGTCT others(34): Show |
C | intron_variant | MODIFIER | NA18990.hp1 NA18995.hp1 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0040a0001c0002t0007g0090 | 2 | 446 | 0.0045 | -41 | c.134 others(60): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
CAMKK1_chr17_3855315_3898053 | 3868133 | TGGGGGAG others(34): Show |
T | intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0150 | 1 | 446 | 0.0022 | -41 | c.134 others(60): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
CAMKK1_chr17_3855315_3898053 | 3868148 | CGCCGTCT others(34): Show |
C | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0017 | 1 | 446 | 0.0022 | -41 | c.134 others(60): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
CAMKV_chr3_49852989_49874906 | 49874601 | TCCAGTGC others(34): Show |
T | upstream_gene_variant | MODIFIER | HG02647.hp1 HG02723.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0065a0001c0003t0001g0066 | 2 | 338 | 0.0059 | -41 | c.-48 others(52): Show |
CAMKV | ENSG00000164076.17 | transcript | ENST00000477224.6 | protein_coding | 4696 | chr3 | TogoVar | |||||||
CANT1_chr17_78986716_79014764 | 79004058 | GGGGGAGT others(34): Show |
G | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0232 | 1 | 394 | 0.0025 | -41 | c.-14 others(60): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CANT1_chr17_78986716_79014764 | 79004568 | AGGGGGGA others(34): Show |
A | intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0205 | 1 | 394 | 0.0025 | -41 | c.-14 others(60): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CANT1_chr17_78986716_79014764 | 79004641 | AGGGGAGC others(34): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01255.hp1 HG02071.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0002t0019a0001c0003t0002 | a0001c0002t0003g0045a0001c0002t0003g0214a0001c0002t0003g0225others(2): Show | 6 | 394 | 0.0152 | -41 | c.-14 others(60): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CANT1_chr17_78986716_79014764 | 79004919 | CTGGGGGG others(34): Show |
C | intron_variant | MODIFIER | HG00423.hp1 NA18983.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0050 | 2 | 394 | 0.0051 | -41 | c.-14 others(60): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44181632 | CACTCACA others(34): Show |
C | intron_variant | MODIFIER | HG02965.hp1 NA19043.hp2 |
a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0287a0007c0007t0001g0303 | 2 | 460 | 0.0044 | -41 | c.193 others(58): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735697 | CGGGGGTT others(34): Show |
C | intron_variant | MODIFIER | HG02523.hp1 | a0004 | a0004c0010 | a0004c0010t0002 | a0004c0010t0002g0210 | 1 | 342 | 0.0029 | -41 | c.158 others(58): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38735702 | GTTCTGGG others(34): Show |
G | intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0167 | 1 | 342 | 0.0029 | -41 | c.158 others(58): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN9_chr1_230742388_230806989 | 230800217 | AAATAAGA others(34): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0032 | 1 | 394 | 0.0025 | -41 | c.204 others(60): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116890526 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG02109.hp2 HG02135.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0035 | a0001c0001t0001g0328a0001c0001t0002g0156a0001c0001t0002g0189others(1): Show | 4 | 354 | 0.0113 | -41 | c.103 others(58): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25450734 | TCCTCCTT others(34): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(33): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0001g0050a0001c0001t0001g0056a0001c0001t0001g0058others(33): Show | 36 | 186 | 0.1936 | -41 | c.614 others(54): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88893259 | GCCTCCCC others(34): Show |
G | intron_variant | MODIFIER | NA19004.hp2 NA19005.hp2 NA19088.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0204a0001c0003t0004g0199a0001c0003t0004g0200 | 3 | 284 | 0.0106 | -41 | c.380 others(56): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59658355 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0231 | 1 | 242 | 0.0041 | -41 | c.212 others(60): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
CCDC127_chr5_191868_223153 | 196676 | CCGAGTGT others(34): Show |
C | downstream_gene_variant | MODIFIER | HG02602.hp1 NA18950.hp1 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018a0001c0001t0112 | a0001c0001t0003g0003a0001c0001t0018g0022a0001c0001t0112g0149 | 3 | 406 | 0.0074 | -41 | c.*85 others(52): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 191 | chr5 | TogoVar | |||||||
CCDC127_chr5_191868_223153 | 196678 | GAGTGTGT others(34): Show |
G | downstream_gene_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0004 | a0002c0004t0179 | a0002c0004t0179g0234 | 1 | 406 | 0.0025 | -41 | c.*85 others(52): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 189 | chr5 | TogoVar | |||||||
CCDC169_chr13_36225775_36302814 | 36298950 | AAAAGGCT others(34): Show |
A | upstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 364 | 0.0028 | -41 | c.-12 others(52): Show |
CCDC169 | ENSG00000242715.8 | transcript | ENST00000239859.8 | protein_coding | 1137 | chr13 | TogoVar | |||||||
CCDC178_chr18_32932406_33445721 | 33288390 | CCCCTCCC others(34): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG02145.hp2 HG02486.hp2 others(13): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0056a0002c0002t0001g0004a0002c0002t0001g0019others(13): Show | 16 | 58 | 0.2759 | -41 | c.117 others(60): Show |
CCDC178 | ENSG00000166960.17 | transcript | ENST00000383096.8 | protein_coding | 12/22 | chr18 | TogoVar | |||||||
CCDC192_chr5_127698391_127946507 | 127831283 | ATTTAAAA others(34): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02970.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0202a0001c0002t0001g0086 | 2 | 234 | 0.0086 | -41 | c.411 others(60): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CCDC47_chr17_63740255_63778597 | 63759509 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG02004.hp2 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0151a0001c0001t0003g0153a0001c0001t0003g0154 | 3 | 352 | 0.0085 | -41 | c.735 others(58): Show |
CCDC47 | ENSG00000108588.15 | transcript | ENST00000225726.10 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
CCDC63_chr12_110841987_110912535 | 110900246 | AAAACTAC others(34): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 288 | 0.0035 | -41 | c.134 others(60): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 10/11 | chr12 | TogoVar | |||||||
CCDC66_chr3_56552175_56626837 | 56583885 | CGCCCCCC others(34): Show |
C | intron_variant | MODIFIER | HG02602.hp2 HG04204.hp1 |
a0008 | a0008c0012 | a0008c0012t0008 | a0008c0012t0008g0311a0008c0012t0008g0312 | 2 | 372 | 0.0054 | -41 | c.937 others(58): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882509 | AAAGGAAA others(34): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG06807.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0171a0002c0004t0001g0172 | 2 | 288 | 0.0069 | -41 | c.303 others(60): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CCDC88B_chr11_64335204_64362534 | 64354799 | AAGCCTCA others(34): Show |
A | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 400 | 0.0025 | -41 | c.410 others(58): Show |
CCDC88B | ENSG00000168071.22 | transcript | ENST00000356786.10 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |