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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMPRSS6_chr22_37060436_37114713 | 37097816 | C | CGGCCACT others(375): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02148.hp1 HG02647.hp1 others(4): Show |
a0002a0004 | a0002c0001a0002c0012a0004c0060 | a0002c0001t0001a0002c0012t0001a0004c0060t0001 | a0002c0001t0001g0105 a0002c0001t0001g0182 a0002c0001t0001g0252 others(4): Show |
7 | 269 | 0.0260 | 382 | c.336 others(397): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37097816 | C | CGGCCACT others(375): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0004 | a0004c0044 | a0004c0044t0001 | a0004c0044t0001g0302 | 1 | 263 | 0.0038 | 382 | c.336 others(397): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37097816 | C | CGGCCACT others(375): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02965.hp2 |
a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0183 a0002c0012t0001g0184 |
2 | 264 | 0.0076 | 382 | c.336 others(397): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37097911 | A | AGGGCCAC others(375): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0263 | 1 | 180 | 0.0056 | 382 | c.336 others(397): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37097911 | A | AGGGCCAC others(375): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG01099.hp2 others(20): Show |
a0001a0002a0004others(1): Show | a0001c0007a0002c0001a0002c0014others(6): Show | a0001c0007t0001a0002c0001t0001a0002c0014t0001others(6): Show | a0001c0007t0001g0102 a0002c0001t0001g0017 a0002c0001t0001g0103 others(19): Show |
23 | 202 | 0.1139 | 382 | c.336 others(397): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37097911 | A | AGGGCCAC others(375): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01358.hp1 |
a0001a0011 | a0001c0013a0011c0040 | a0001c0013t0001a0011c0040t0001 | a0001c0013t0001g0054 a0011c0040t0001g0079 |
2 | 181 | 0.0110 | 382 | c.336 others(397): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37097943 | A | AGGGCCAC others(375): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0007 | 1 | 11 | 0.0909 | 382 | c.336 others(397): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2377592 | C | CTCTCCCC others(375): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0111 | 1 | 46 | 0.0217 | 382 | c.-25 others(401): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2419018 | C | CCCTCCCT others(375): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02083.hp1 NA18970.hp2 |
a0005 | a0005c0010a0005c0028 | a0005c0010t0002a0005c0028t0002 | a0005c0010t0002g0080 a0005c0010t0002g0082 a0005c0028t0002g0065 |
3 | 5 | 0.6000 | 382 | c.215 others(399): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TOX_chr8_58800412_59124147 | 59092275 | A | ATATTATA others(375): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 149 | 0.0067 | 382 | c.102 others(401): Show |
TOX | ENSG00000198846.6 | transcript | ENST00000361421.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
TPK1_chr7_144446941_144841053 | 144488635 | A | ACACACAC others(375): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02572.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0033 a0001c0001t0001g0081 a0001c0001t0003g0021 others(5): Show |
8 | 116 | 0.0690 | 382 | c.614 others(401): Show |
TPK1 | ENSG00000196511.15 | transcript | ENST00000360057.7 | protein_coding | 8/8 | chr7 | TogoVar | |||||||
TRIM28_chr19_58539064_58555715 | 58539659 | T | TCCTCAGA others(375): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 HG02896.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 5 | 400 | 0.0125 | 382 | c.-50 others(393): Show |
TRIM28 | ENSG00000130726.12 | transcript | ENST00000253024.10 | protein_coding | 4404 | chr19 | TogoVar | |||||||
TRIM67_chr1_231157058_231226565 | 231202070 | G | GGAGGAGG others(375): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0046 | 1 | 226 | 0.0044 | 382 | c.153 others(399): Show |
TRIM67 | ENSG00000119283.16 | transcript | ENST00000366653.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TRIM67_chr1_231157058_231226565 | 231202070 | G | GGAGGAGG others(375): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0293 | 1 | 226 | 0.0044 | 382 | c.153 others(399): Show |
TRIM67 | ENSG00000119283.16 | transcript | ENST00000366653.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TRIM67_chr1_231157058_231226565 | 231202070 | G | GGAGGAGG others(375): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0025 | 1 | 226 | 0.0044 | 382 | c.153 others(399): Show |
TRIM67 | ENSG00000119283.16 | transcript | ENST00000366653.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TRPC4AP_chr20_34997404_35097807 | 35097570 | T | TGTGTATA others(375): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 268 | 0.0037 | 382 | c.-47 others(393): Show |
TRPC4AP | ENSG00000100991.12 | transcript | ENST00000252015.3 | protein_coding | 4764 | chr20 | TogoVar | |||||||
TRPM7_chr15_50552158_50691797 | 50564248 | A | AAAAATAA others(375): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0282 | 1 | 121 | 0.0083 | 382 | c.546 others(401): Show |
TRPM7 | ENSG00000092439.16 | transcript | ENST00000646667.1 | protein_coding | 38/38 | chr15 | TogoVar | |||||||
TRPM7_chr15_50552158_50691797 | 50564251 | A | AATAAAAT others(375): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0287 | 1 | 332 | 0.0030 | 382 | c.546 others(401): Show |
TRPM7 | ENSG00000092439.16 | transcript | ENST00000646667.1 | protein_coding | 38/38 | chr15 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870121 | C | CCCCACAC others(375): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 a0001c0001t0001g0321 |
2 | 336 | 0.0060 | 382 | c.*35 others(401): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870175 | C | CACACACA others(375): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 325 | 0.0031 | 382 | c.*35 others(401): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870635 | C | CACCACAC others(375): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01975.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0131 a0001c0001t0001g0154 |
4 | 230 | 0.0174 | 382 | c.*35 others(401): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870876 | A | ACACCCCA others(375): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 244 | 0.0041 | 382 | c.*35 others(401): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(375): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 146 | 0.0068 | 382 | c.114 others(399): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
USP13_chr3_179648040_179794401 | 179727828 | C | CGGCTGGC others(375): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00673.hp2 HG01069.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0211 a0001c0001t0001g0222 a0001c0001t0001g0279 others(40): Show |
44 | 267 | 0.1648 | 382 | c.108 others(401): Show |
USP13 | ENSG00000058056.10 | transcript | ENST00000263966.8 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169306 | C | CCCTCCCT others(375): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0016 | 1 | 107 | 0.0093 | 382 | c.*72 others(391): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 637 | chrX | TogoVar | |||||||
VCX3A_chrX_6528618_6540118 | 6533504 | C | CCCTCCCC others(375): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 1 | 67 | 0.0149 | 382 | c.*24 others(391): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 113 | chrX | TogoVar | |||||||
ZFPM2_chr8_105313438_105809539 | 105380859 | A | AATATATA others(375): Show |
intron_variant | MODIFIER | HG00738.hp2 HG04204.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0009 a0002c0003t0002g0006 |
2 | 72 | 0.0278 | 382 | c.41- others(399): Show |
ZFPM2 | ENSG00000169946.14 | transcript | ENST00000407775.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZNF365_chr10_62369369_62407450 | 62370978 | C | CATATGTG others(375): Show |
upstream_gene_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 | 1 | 223 | 0.0045 | 382 | c.-34 others(393): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3390 | chr10 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370978 | C | CATATGTG others(375): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0078 | 1 | 223 | 0.0045 | 382 | c.-34 others(393): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3390 | chr10 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1052625 | A | AGAGGAGG others(376): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02071.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0019 |
3 | 6 | 0.5000 | 383 | c.322 others(400): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1052625 | A | AGAGGAGG others(376): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0013 | a0013c0012 | a0013c0012t0001 | a0013c0012t0001g0026 | 1 | 4 | 0.2500 | 383 | c.322 others(400): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1052625 | A | AGAGGAGG others(376): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 4 | 0.2500 | 383 | c.322 others(400): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1052625 | A | AGAGGAGG others(376): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02970.hp1 HG02970.hp2 |
a0004a0008a0011 | a0004c0005a0008c0022a0011c0020 | a0004c0005t0002a0008c0022t0001a0011c0020t0002 | a0004c0005t0002g0002 a0008c0022t0001g0004 a0011c0020t0002g0020 |
3 | 6 | 0.5000 | 383 | c.322 others(400): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16172204 | A | ATAAATGA others(376): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03130.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0326 a0001c0001t0001g0338 a0001c0001t0001g0339 |
3 | 209 | 0.0144 | 383 | c.278 others(402): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1064155 | G | GTTATGTG others(376): Show |
intron_variant | MODIFIER | HG02280.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0034 | a0001c0001t0001g0132 a0001c0001t0034g0002 |
2 | 334 | 0.0060 | 383 | c.118 others(402): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1064588 | T | TGTGAACT others(376): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 329 | 0.0030 | 383 | c.118 others(402): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1173225 | A | ACATCACC others(376): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0206 | 1 | 278 | 0.0036 | 383 | c.61+ others(398): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179217816 | C | CTAGGGGA others(376): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0019 | 1 | 267 | 0.0037 | 383 | c.689 others(402): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 318069 | T | TCCCTTGC others(376): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0012 | a0012c0014 | a0012c0014t0020 | a0012c0014t0020g0034 | 1 | 92 | 0.0109 | 383 | c.-37 others(394): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3644 | chr5 | TogoVar | |||||||
AK1_chr9_127861486_127882675 | 127882561 | G | GGAAAGGA others(376): Show |
upstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 | 1 | 413 | 0.0024 | 383 | c.-49 others(394): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 4887 | chr9 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243525831 | G | GGGGGAGG others(376): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0298 | 1 | 183 | 0.0055 | 383 | c.125 others(404): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1825174 | C | CCACCTGT others(376): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 291 | 0.0034 | 383 | c.-48 others(400): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758725 | C | CCTAACTC others(376): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0050 | a0050c0030 | a0050c0030t0001 | a0050c0030t0001g0109 | 1 | 165 | 0.0061 | 383 | c.654 others(402): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
BOK_chr2_241553745_241579131 | 241570460 | G | GTGGGGGT others(376): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02523.hp2 NA18941.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0040 | a0001c0001t0007g0008 a0001c0001t0007g0056 a0001c0001t0007g0258 others(2): Show |
9 | 123 | 0.0732 | 383 | c.513 others(398): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
BOK_chr2_241553745_241579131 | 241570460 | G | GTGGGGGT others(376): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0276 a0001c0001t0007g0277 |
2 | 116 | 0.0172 | 383 | c.513 others(398): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404658 | T | TGAGGGGT others(376): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0009 | 1 | 263 | 0.0038 | 383 | c.*24 others(394): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 786 | chr19 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36680685 | C | CCTGCATC others(376): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0097 | 1 | 125 | 0.0080 | 383 | c.211 others(402): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 544729 | A | ACGTCGCC others(376): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0329 | 1 | 356 | 0.0028 | 383 | c.-22 others(400): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CASP8_chr2_201255536_201292709 | 201284695 | G | GGGGAGAG others(376): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG02809.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 a0001c0001t0003g0032 a0001c0001t0003g0085 others(2): Show |
7 | 226 | 0.0310 | 383 | c.803 others(397): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CCN4_chr8_133186039_133236690 | 133214070 | C | CACTATAT others(376): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0324 | 1 | 27 | 0.0370 | 383 | c.349 others(398): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |