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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGEF11_chr1_156929840_157050742 | 156936497 | A | AAAAATAT others(22): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0004 | a0002c0004t0008 | a0002c0004t0008g0194 | 1 | 78 | 0.0128 | 29 | c.463 others(46): Show |
ARHGEF11 | ENSG00000132694.19 | transcript | ENST00000368194.8 | protein_coding | 40/40 | chr1 | TogoVar | |||||||
ARHGEF12_chr11_120331413_120494937 | 120367353 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0074 | 1 | 72 | 0.0139 | 29 | c.32+ others(46): Show |
ARHGEF12 | ENSG00000196914.9 | transcript | ENST00000397843.7 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7367761 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01934.hp1 HG02145.hp1 others(10): Show |
a0002a0012a0018 | a0002c0004a0002c0006a0002c0033others(2): Show | a0002c0004t0004a0002c0004t0021a0002c0006t0007others(3): Show | a0002c0004t0004g0263 a0002c0004t0004g0264 a0002c0004t0021g0277 others(10): Show |
13 | 244 | 0.0533 | 29 | c.15+ others(44): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7411283 | T | TTCCCCTT others(22): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02572.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0034 | a0001c0001t0004g0294 a0001c0001t0005g0029 a0001c0001t0005g0030 others(2): Show |
5 | 296 | 0.0169 | 29 | c.967 others(48): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 10/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGEF4_chr2_130831914_131052253 | 131038431 | C | CCCAGCCT others(22): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG02615.hp2 others(4): Show |
a0001a0003a0010 | a0001c0007a0003c0029a0010c0047 | a0001c0007t0004a0003c0029t0004a0010c0047t0009 | a0001c0007t0004g0089 a0001c0007t0004g0090 a0001c0007t0004g0091 others(4): Show |
7 | 142 | 0.0493 | 29 | c.412 others(46): Show |
ARHGEF4 | ENSG00000136002.21 | transcript | ENST00000409359.7 | protein_coding | 5/13 | chr2 | TogoVar | |||||||
ARHGEF6_chrX_136660550_136785932 | 136663380 | A | ATATATAT others(22): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 245 | 0.0041 | 29 | c.*46 others(40): Show |
ARHGEF6 | ENSG00000129675.16 | transcript | ENST00000250617.7 | protein_coding | 2169 | chrX | TogoVar | |||||||
ARHGEF6_chrX_136660550_136785932 | 136663411 | A | ATATATAT others(22): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 234 | 0.0043 | 29 | c.*46 others(40): Show |
ARHGEF6 | ENSG00000129675.16 | transcript | ENST00000250617.7 | protein_coding | 2138 | chrX | TogoVar | |||||||
ARID1B_chr6_156772378_157215779 | 157039322 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 79 | 0.0127 | 29 | c.224 others(50): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARID3A_chr19_921035_980939 | 950140 | C | CCCCAGAG others(22): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0003 | a0001c0003t0034 | a0001c0003t0034g0317 | 1 | 355 | 0.0028 | 29 | c.694 others(46): Show |
ARID3A | ENSG00000116017.11 | transcript | ENST00000263620.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARID3A_chr19_921035_980939 | 950227 | C | CCCCAGAG others(22): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0003 | a0001c0003t0034 | a0001c0003t0034g0317 | 1 | 356 | 0.0028 | 29 | c.694 others(46): Show |
ARID3A | ENSG00000116017.11 | transcript | ENST00000263620.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARID3A_chr19_921035_980939 | 950227 | C | CCCCAGAG others(22): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02451.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0122a0001c0007t0191 | a0001c0003t0122g0361 a0001c0007t0191g0134 |
2 | 357 | 0.0056 | 29 | c.694 others(46): Show |
ARID3A | ENSG00000116017.11 | transcript | ENST00000263620.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARID3A_chr19_921035_980939 | 950256 | C | CCCCAGAG others(22): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0038 | a0001c0038t0135 | a0001c0038t0135g0320 | 1 | 362 | 0.0028 | 29 | c.694 others(46): Show |
ARID3A | ENSG00000116017.11 | transcript | ENST00000263620.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARID3A_chr19_921035_980939 | 950285 | C | CCCCAGAG others(22): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0052 | a0001c0052t0198 | a0001c0052t0198g0011 | 1 | 362 | 0.0028 | 29 | c.694 others(46): Show |
ARID3A | ENSG00000116017.11 | transcript | ENST00000263620.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARID3A_chr19_921035_980939 | 973104 | A | ATTTTTTT others(22): Show |
3_prime_UTR_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0003 | a0001c0003t0111 | a0001c0003t0111g0021 | 1 | 22 | 0.0455 | 29 | c.*10 others(40): Show |
ARID3A | ENSG00000116017.11 | transcript | ENST00000263620.8 | protein_coding | 9/9 | 1061 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ARID4A_chr14_58293555_58378876 | 58337268 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 292 | 0.0034 | 29 | c.906 others(46): Show |
ARID4A | ENSG00000032219.19 | transcript | ENST00000355431.8 | protein_coding | 11/23 | chr14 | TogoVar | |||||||
ARID4B_chr1_235161902_235333179 | 235236833 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 67 | 0.0149 | 29 | c.586 others(46): Show |
ARID4B | ENSG00000054267.22 | transcript | ENST00000264183.9 | protein_coding | 8/23 | chr1 | TogoVar | |||||||
ARID4B_chr1_235161902_235333179 | 235236863 | T | TGTATATA others(22): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 | 1 | 213 | 0.0047 | 29 | c.586 others(46): Show |
ARID4B | ENSG00000054267.22 | transcript | ENST00000264183.9 | protein_coding | 8/23 | chr1 | TogoVar | |||||||
ARID5B_chr10_61896699_62101944 | 62099312 | C | CAAAAAAA others(22): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 100 | 0.0100 | 29 | c.*62 others(40): Show |
ARID5B | ENSG00000150347.17 | transcript | ENST00000279873.12 | protein_coding | 2369 | chr10 | TogoVar | |||||||
ARIH1_chr15_72469330_72607987 | 72534959 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG03492.hp1 NA18949.hp1 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0035a0001c0001t0110 | a0001c0001t0006g0139 a0001c0001t0035g0141 a0001c0001t0110g0132 |
3 | 109 | 0.0275 | 29 | c.444 others(46): Show |
ARIH1 | ENSG00000166233.15 | transcript | ENST00000379887.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARL14EP_chr11_30318104_30343223 | 30334208 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | NA18980.hp2 NA18991.hp1 NA19010.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0069 a0001c0001t0001g0099 |
4 | 156 | 0.0256 | 29 | c.554 others(46): Show |
ARL14EP | ENSG00000152219.5 | transcript | ENST00000282032.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARL6IP5_chr3_69079937_69111092 | 69110853 | A | AAAAAAAA others(22): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0061 | 1 | 258 | 0.0039 | 29 | c.*62 others(40): Show |
ARL6IP5 | ENSG00000144746.7 | transcript | ENST00000273258.4 | protein_coding | 4762 | chr3 | TogoVar | |||||||
ARL6IP5_chr3_69079937_69111092 | 69110853 | A | AAAAAAAA others(22): Show |
downstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0031 | 1 | 258 | 0.0039 | 29 | c.*62 others(40): Show |
ARL6IP5 | ENSG00000144746.7 | transcript | ENST00000273258.4 | protein_coding | 4762 | chr3 | TogoVar | |||||||
ARL6IP5_chr3_69079937_69111092 | 69110853 | A | AAAAAAAA others(22): Show |
downstream_gene_variant | MODIFIER | NA19070.hp2 NA19074.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 a0001c0002t0002g0123 |
2 | 259 | 0.0077 | 29 | c.*62 others(40): Show |
ARL6IP5 | ENSG00000144746.7 | transcript | ENST00000273258.4 | protein_coding | 4762 | chr3 | TogoVar | |||||||
ARL6IP5_chr3_69079937_69111092 | 69110853 | A | AAAAAAAA others(22): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0114 a0001c0002t0002g0212 |
2 | 259 | 0.0077 | 29 | c.*62 others(40): Show |
ARL6IP5 | ENSG00000144746.7 | transcript | ENST00000273258.4 | protein_coding | 4762 | chr3 | TogoVar | |||||||
ARMC10_chr7_103070140_103104759 | 103099593 | T | TGTGTGTG others(22): Show |
3_prime_UTR_variant | MODIFIER | NA19006.hp1 | a0002 | a0002c0002 | a0002c0002t0064 | a0002c0002t0064g0072 | 1 | 367 | 0.0027 | 29 | c.*10 others(40): Show |
ARMC10 | ENSG00000170632.14 | transcript | ENST00000323716.8 | protein_coding | 7/7 | 1041 | chr7 | TogoVar | ||||||
ARMH3_chr10_101840599_102061173 | 102041090 | A | AATATATA others(22): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0116 | 1 | 193 | 0.0052 | 29 | c.-11 others(44): Show |
ARMH3 | ENSG00000120029.13 | transcript | ENST00000370033.9 | protein_coding | 1/25 | chr10 | TogoVar | |||||||
ARNT2_chr15_80399382_80602933 | 80505924 | G | GTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0175 | 1 | 263 | 0.0038 | 29 | c.623 others(46): Show |
ARNT2 | ENSG00000172379.22 | transcript | ENST00000303329.9 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARPC1B_chr7_99369730_99399816 | 99380331 | T | TTGGTAAG others(22): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0110 a0001c0001t0008g0109 a0001c0001t0008g0111 |
3 | 338 | 0.0089 | 29 | c.-13 others(46): Show |
ARPC1B | ENSG00000130429.16 | transcript | ENST00000646101.2 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
ARPC2_chr2_218212189_218259348 | 218215618 | T | TAAAAAAA others(22): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 14 | 0.0714 | 29 | c.-16 others(40): Show |
ARPC2 | ENSG00000163466.16 | transcript | ENST00000315717.10 | protein_coding | 1570 | chr2 | TogoVar | |||||||
ARPC2_chr2_218212189_218259348 | 218257094 | A | AGCACACT others(22): Show |
downstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 330 | 0.0030 | 29 | c.*31 others(40): Show |
ARPC2 | ENSG00000163466.16 | transcript | ENST00000315717.10 | protein_coding | 2747 | chr2 | TogoVar | |||||||
ARPC4_chr3_9788082_9812101 | 9809959 | G | GGGGCGCG others(22): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(154): Show |
325 | 435 | 0.7471 | 29 | c.*37 others(40): Show |
ARPC4 | ENSG00000241553.13 | transcript | ENST00000397261.8 | protein_coding | 2859 | chr3 | TogoVar | |||||||
ARPP21_chr3_35634525_35799486 | 35667840 | C | CGAAGAAG others(22): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0044 | 1 | 209 | 0.0048 | 29 | c.-21 others(50): Show |
ARPP21 | ENSG00000172995.17 | transcript | ENST00000684406.1 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3038972 | A | AAGCAGAA others(22): Show |
downstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 246 | 0.0041 | 29 | c.*55 others(40): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 4862 | chrX | TogoVar | |||||||
AS3MT_chr10_102864470_102906899 | 102906276 | A | AAAAATAT others(22): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0104 | 1 | 112 | 0.0089 | 29 | c.*55 others(40): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 4378 | chr10 | TogoVar | |||||||
ASAH1_chr8_18050992_18089107 | 18067100 | T | TGCACCTG others(22): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(87): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0170 others(50): Show |
90 | 415 | 0.2169 | 29 | c.382 others(43): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 5/13 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130071434 | T | TTGGTTCT others(22): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0268 | 1 | 306 | 0.0033 | 29 | c.270 others(48): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130072824 | T | TGTGTGTG others(22): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 152 | 0.0066 | 29 | c.270 others(48): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130101732 | A | ATTTTTTT others(22): Show |
intron_variant | MODIFIER | HG01943.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0167 |
2 | 69 | 0.0290 | 29 | c.240 others(48): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130219218 | T | TATTATAA others(22): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(31): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0011 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0002c0002t0001g0012 others(31): Show |
34 | 306 | 0.1111 | 29 | c.260 others(46): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 4/29 | chr8 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9254236 | A | AAAAAAAT others(22): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0162 | 1 | 94 | 0.0106 | 29 | c.127 others(48): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9254236 | A | AAATATAT others(22): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0010 | 1 | 94 | 0.0106 | 29 | c.127 others(48): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9286447 | A | AAAAAAAT others(22): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0046 | 1 | 65 | 0.0154 | 29 | c.199 others(46): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9397750 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0041 | 1 | 112 | 0.0089 | 29 | c.268 others(48): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9397750 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0013 | a0001c0013t0017 | a0001c0013t0017g0045 | 1 | 112 | 0.0089 | 29 | c.268 others(48): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASB15_chr7_123596821_123644481 | 123637878 | T | TAAAAAAA others(22): Show |
3_prime_UTR_variant | MODIFIER | NA18979.hp1 | a0006 | a0006c0008 | a0006c0008t0033 | a0006c0008t0033g0239 | 1 | 87 | 0.0115 | 29 | c.*91 others(38): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 12/12 | 920 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB1_chr2_238421927_238457250 | 238453042 | A | ATAACGTG others(22): Show |
downstream_gene_variant | MODIFIER | NA18988.hp1 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0036 | a0001c0001t0001g0001 a0001c0001t0036g0011 |
2 | 411 | 0.0049 | 29 | c.*65 others(40): Show |
ASB1 | ENSG00000065802.12 | transcript | ENST00000264607.9 | protein_coding | 793 | chr2 | TogoVar | |||||||
ASB1_chr2_238421927_238457250 | 238453218 | A | AACGTGGC others(22): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 HG01891.hp1 HG02109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0021 | a0001c0001t0008g0024 a0001c0001t0008g0039 a0001c0001t0008g0157 others(3): Show |
9 | 413 | 0.0218 | 29 | c.*67 others(40): Show |
ASB1 | ENSG00000065802.12 | transcript | ENST00000264607.9 | protein_coding | 969 | chr2 | TogoVar | |||||||
ASCC1_chr10_72091032_72221276 | 72198364 | A | AGGGGGAG others(22): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 176 | 0.0057 | 29 | c.311 others(46): Show |
ASCC1 | ENSG00000138303.19 | transcript | ENST00000672957.1 | protein_coding | 4/9 | chr10 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100597809 | G | GAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02055.hp1 HG04228.hp2 |
a0002a0011 | a0002c0003a0011c0018 | a0002c0003t0002a0011c0018t0002 | a0002c0003t0002g0017 a0011c0018t0002g0005 |
2 | 138 | 0.0145 | 29 | c.530 others(48): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 34/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608714 | T | TTTATACT others(22): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG01192.hp2 others(19): Show |
a0001a0006 | a0001c0002a0006c0022 | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(1): Show | a0001c0002t0002g0082 a0001c0002t0002g0089 a0001c0002t0003g0075 others(19): Show |
22 | 215 | 0.1023 | 29 | c.478 others(48): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar |