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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASAP1_chr8_130047104_130448674 | 130049921 | G | GGAACACA others(182): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0032 | 1 | 199 | 0.0050 | 189 | c.*48 others(200): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2182 | chr8 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72198311 | G | GGAGGGGG others(182): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 147 | 0.0068 | 189 | c.311 others(206): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 4/9 | chr10 | TogoVar | |||||||
ATF1_chr12_50759101_50826162 | 50823520 | T | TTTATATA others(182): Show |
downstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 143 | 0.0070 | 189 | c.*37 others(200): Show |
ATF1 | ENSG00000123268.9 | transcript | ENST00000262053.8 | protein_coding | 2359 | chr12 | TogoVar | |||||||
ATF1_chr12_50759101_50826162 | 50823520 | T | TTTATATA others(182): Show |
downstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048 | 1 | 143 | 0.0070 | 189 | c.*37 others(200): Show |
ATF1 | ENSG00000123268.9 | transcript | ENST00000262053.8 | protein_coding | 2359 | chr12 | TogoVar | |||||||
ATF1_chr12_50759101_50826162 | 50823520 | T | TTTATATA others(182): Show |
downstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 143 | 0.0070 | 189 | c.*37 others(200): Show |
ATF1 | ENSG00000123268.9 | transcript | ENST00000262053.8 | protein_coding | 2359 | chr12 | TogoVar | |||||||
ATOH8_chr2_85748991_85796383 | 85767580 | T | TCCTTCCC others(182): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03453.hp2 |
a0002a0003 | a0002c0004a0003c0003 | a0002c0004t0011a0003c0003t0016 | a0002c0004t0011g0271 a0003c0003t0016g0098 |
2 | 93 | 0.0215 | 189 | c.960 others(206): Show |
ATOH8 | ENSG00000168874.13 | transcript | ENST00000306279.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182841814 | T | TAAAAATA others(182): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02486.hp2 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0266 a0001c0002t0009g0267 |
2 | 322 | 0.0062 | 189 | c.657 others(204): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 545902 | T | TGAGAGGA others(182): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0190 | 1 | 41 | 0.0244 | 189 | c.639 others(204): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 374748 | A | AAGGGAGG others(182): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 178 | 0.0056 | 189 | c.784 others(204): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 92012179 | C | CCCTCTCC others(182): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02148.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0257 others(5): Show |
8 | 177 | 0.0452 | 189 | c.431 others(206): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 92012179 | C | CCCTCTCC others(182): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0261 | 1 | 170 | 0.0059 | 189 | c.431 others(206): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 92012179 | C | CCCTCTCC others(182): Show |
intron_variant | MODIFIER | HG02015.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0278 a0001c0001t0002g0287 |
2 | 171 | 0.0117 | 189 | c.431 others(206): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 92012181 | C | CTCCCCTC others(182): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01433.hp1 HG02809.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 others(7): Show |
10 | 172 | 0.0581 | 189 | c.431 others(206): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | chr10 | TogoVar | |||||||
BTAF1_chr10_91918770_92036437 | 92012181 | C | CTCTCCTC others(182): Show |
intron_variant | MODIFIER | NA18981.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0243 a0001c0001t0002g0258 |
2 | 164 | 0.0122 | 189 | c.431 others(206): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | chr10 | TogoVar | |||||||
BTAF1_chr10_91918770_92036437 | 92012181 | C | CTCTCCTC others(182): Show |
intron_variant | MODIFIER | NA18970.hp1 NA18985.hp2 NA19057.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0272 others(1): Show |
4 | 166 | 0.0241 | 189 | c.431 others(206): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | chr10 | TogoVar | |||||||
C12orf56_chr12_64259762_64395758 | 64366356 | T | TATACAGT others(182): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0242 | 1 | 109 | 0.0092 | 189 | c.253 others(208): Show |
C12orf56 | ENSG00000185306.13 | transcript | ENST00000543942.7 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
C18orf63_chr18_74310839_74364189 | 74361916 | A | ATACATAA others(182): Show |
downstream_gene_variant | MODIFIER | HG03669.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0154 a0001c0001t0015g0155 |
2 | 368 | 0.0054 | 189 | c.*54 others(200): Show |
C18orf63 | ENSG00000206043.7 | transcript | ENST00000579455.2 | protein_coding | 2728 | chr18 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 278930 | C | CGGAGGGA others(182): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0286 | 1 | 322 | 0.0031 | 189 | c.465 others(204): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32145637 | A | ATATTATA others(182): Show |
downstream_gene_variant | MODIFIER | NA19079.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 327 | 0.0031 | 189 | c.*39 others(200): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3368 | chr22 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32145637 | A | ATATTATA others(182): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG01928.hp2 HG01934.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0062 |
4 | 330 | 0.0121 | 189 | c.*39 others(200): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3368 | chr22 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004143 | A | ATGATGGT others(182): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02922.hp1 HG03471.hp1 others(1): Show |
a0001a0022a0036 | a0001c0001a0022c0022a0036c0039 | a0001c0001t0001a0022c0022t0001a0036c0039t0001 | a0001c0001t0001g0158 a0001c0001t0001g0281 a0022c0022t0001g0068 others(1): Show |
4 | 344 | 0.0116 | 189 | c.963 others(206): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531734 | G | GGGGAGTG others(182): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 396 | 0.0025 | 189 | c.-28 others(200): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2624 | chr8 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51831667 | A | AAGCAGCA others(182): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 37 | 0.0270 | 189 | c.280 others(208): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13221224 | T | TTTCTTTT others(182): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0004 | a0004c0047 | a0004c0047t0001 | a0004c0047t0001g0178 | 1 | 90 | 0.0111 | 189 | c.573 others(208): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 38/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13221224 | T | TTTCTTTT others(182): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0013 | a0013c0115 | a0013c0115t0001 | a0013c0115t0001g0068 | 1 | 90 | 0.0111 | 189 | c.573 others(208): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 38/46 | chr19 | TogoVar | |||||||
CACNG7_chr19_53904278_53948950 | 53921634 | T | TCCCCAGG others(182): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 | 1 | 358 | 0.0028 | 189 | c.424 others(206): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12694197 | T | TTATGCAT others(182): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02897.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0088a0001c0002t0065 | a0001c0001t0088g0087 a0001c0002t0065g0140 |
2 | 108 | 0.0185 | 189 | c.299 others(208): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK4_chr5_111219384_111499886 | 111450625 | T | TAAAAATA others(182): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02615.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0017a0001c0001t0045others(1): Show | a0001c0001t0013g0156 a0001c0001t0017g0184 a0001c0001t0045g0167 others(1): Show |
4 | 153 | 0.0261 | 189 | c.625 others(206): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544721 | C | CCTCCCCC others(182): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0020 | 1 | 291 | 0.0034 | 189 | c.-22 others(206): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2909401 | A | ACCCCTCC others(182): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0111 | 1 | 244 | 0.0041 | 189 | c.326 others(206): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 24/24 | chr7 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115761458 | A | AAGAAGGG others(182): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 282 | 0.0035 | 189 | c.234 others(206): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115761497 | G | GGGAAGGG others(182): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 47 | 0.0213 | 189 | c.234 others(206): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88894454 | G | GCACACAT others(182): Show |
intron_variant | MODIFIER | HG02083.hp1 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0218 |
2 | 188 | 0.0106 | 189 | c.380 others(206): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88933252 | G | GCACGCCT others(182): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01361.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0025 | a0001c0001t0001g0016 a0001c0001t0001g0096 a0001c0001t0001g0203 others(2): Show |
5 | 30 | 0.1667 | 189 | c.152 others(208): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CCDC30_chr1_42458286_42662190 | 42546393 | A | ATATATAT others(182): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0037 | 1 | 284 | 0.0035 | 189 | c.890 others(204): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | TogoVar | |||||||
CCDC38_chr12_95862048_95947614 | 95908636 | A | AGAGGGAG others(182): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0270 | 1 | 52 | 0.0192 | 189 | c.305 others(206): Show |
CCDC38 | ENSG00000165972.13 | transcript | ENST00000344280.8 | protein_coding | 4/15 | chr12 | TogoVar | |||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(182): Show |
upstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 18 | 0.0556 | 189 | c.-22 others(200): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | |||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(182): Show |
upstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 18 | 0.0556 | 189 | c.-22 others(200): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | |||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(182): Show |
upstream_gene_variant | MODIFIER | HG02040.hp2 NA18970.hp2 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0156 a0001c0001t0003g0007 |
3 | 20 | 0.1500 | 189 | c.-22 others(200): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | |||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(182): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 NA18962.hp2 NA18986.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 a0002c0002t0001g0043 a0002c0002t0001g0126 |
3 | 20 | 0.1500 | 189 | c.-22 others(200): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | |||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(182): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG02080.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 a0001c0001t0003g0031 a0001c0001t0003g0164 |
3 | 20 | 0.1500 | 189 | c.-22 others(200): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | |||||||
CCDC63_chr12_110841987_110912535 | 110905901 | T | TAATATAT others(182): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0143 a0001c0001t0001g0144 |
3 | 278 | 0.0108 | 189 | c.154 others(208): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CDC16_chr13_114229897_114277723 | 114252075 | T | TTACACTA others(182): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0024 | 2 | 362 | 0.0055 | 189 | c.109 others(208): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591689 | A | ATGATGGT others(182): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp2 others(60): Show |
a0001a0003 | a0001c0025a0003c0002a0003c0012others(4): Show | a0001c0025t0001a0003c0002t0001a0003c0012t0001others(4): Show | a0001c0025t0001g0204 a0003c0002t0001g0005 a0003c0002t0001g0024 others(57): Show |
63 | 287 | 0.2195 | 189 | c.373 others(206): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650979 | G | GGACTGTG others(182): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 87 | 0.0115 | 189 | c.177 others(208): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132888609 | T | TCACCCCT others(182): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0009 | a0009c0021 | a0009c0021t0001 | a0009c0021t0001g0244 | 1 | 185 | 0.0054 | 189 | c.330 others(208): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CHCHD6_chr3_126699240_126965420 | 126865068 | T | TCCACCAC others(182): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 121 | 0.0083 | 189 | c.495 others(208): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHID1_chr11_862859_915810 | 881647 | T | TGAGGGAA others(182): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0227 | 1 | 384 | 0.0026 | 189 | c.959 others(206): Show |
CHID1 | ENSG00000177830.18 | transcript | ENST00000323578.13 | protein_coding | 10/12 | chr11 | TogoVar | |||||||
CHRNA7_chr15_32025515_32178018 | 32154878 | C | CACCTCAC others(182): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(234): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(56): Show | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0053 others(232): Show |
237 | 240 | 0.9875 | 189 | c.430 others(204): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA7_chr15_32025515_32178018 | 32154879 | A | ACCTCACA others(182): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0094 | 1 | 304 | 0.0033 | 189 | c.430 others(204): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 5/9 | chr15 | TogoVar |