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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UNG_chr12_109092597_109115992 | 109106892 | C | CATATATA others(235): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG01070.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0019a0001c0001t0001g0031others(16): Show | 30 | 452 | 0.0664 | 242 | c.802 others(259): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
UNG_chr12_109092597_109115992 | 109106892 | C | CATATATA others(235): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091a0001c0001t0001g0092 | 2 | 452 | 0.0044 | 242 | c.802 others(259): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
UNG_chr12_109092597_109115992 | 109106892 | C | CATATATA others(235): Show |
intron_variant | MODIFIER | HG00558.hp2 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 2 | 452 | 0.0044 | 242 | c.802 others(259): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
UNG_chr12_109092597_109115992 | 109106892 | C | CATATATA others(235): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 452 | 0.0022 | 242 | c.802 others(259): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
UNG_chr12_109092597_109115992 | 109106892 | C | CATATATA others(235): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00735.hp2 HG01081.hp2 others(32): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0033others(17): Show | 35 | 452 | 0.0774 | 242 | c.802 others(259): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
UNG_chr12_109092597_109115992 | 109106892 | C | CATATATA others(235): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 452 | 0.0022 | 242 | c.802 others(259): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
UNG_chr12_109092597_109115992 | 109106892 | C | CATATATA others(235): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 452 | 0.0022 | 242 | c.802 others(259): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
UNG_chr12_109092597_109115992 | 109106892 | C | CGTATATA others(235): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 452 | 0.0022 | 242 | c.802 others(259): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 6/6 | chr12 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169727 | C | CCCTCCCT others(235): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0011 | 1 | 115 | 0.0087 | 242 | c.*30 others(251): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 216 | chrX | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99850317 | A | ATACCTAC others(235): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0009 | a0009c0024 | a0009c0024t0005 | a0009c0024t0005g0124 | 1 | 134 | 0.0075 | 242 | c.100 others(263): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99850317 | A | ATACCTAC others(235): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01884.hp1 HG02965.hp2 others(1): Show |
a0001a0003a0005 | a0001c0008a0001c0010a0003c0007others(1): Show | a0001c0008t0005a0001c0010t0005a0003c0007t0005others(1): Show | a0001c0008t0005g0125a0001c0010t0005g0051a0003c0007t0005g0063others(1): Show | 4 | 134 | 0.0299 | 242 | c.100 others(263): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS53_chr17_503668_719839 | 548490 | A | ATGACTAC others(235): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0006 | a0001c0006t0053 | a0001c0006t0053g0102 | 1 | 232 | 0.0043 | 242 | c.186 others(261): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 17/21 | chr17 | TogoVar | ||||||
VSTM2L_chr20_37898127_37950350 | 37914404 | G | GTGTGGGG others(235): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0255 | 1 | 344 | 0.0029 | 242 | c.121 others(261): Show |
VSTM2L | ENSG00000132821.12 | transcript | ENST00000373461.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
XRCC2_chr7_152639776_152681141 | 152674705 | T | TATATATA others(235): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0301 | 1 | 394 | 0.0025 | 242 | c.39+ others(257): Show |
XRCC2 | ENSG00000196584.4 | transcript | ENST00000359321.2 | protein_coding | 1/2 | chr7 | TogoVar | ||||||
ZBED3_chr5_77067072_77092285 | 77073101 | T | TAAAAGTA others(235): Show |
3_prime_UTR_variant | MODIFIER | HG02818.hp1 | a0003 | a0003c0003 | a0003c0003t0078 | a0003c0003t0078g0092 | 1 | 456 | 0.0022 | 242 | c.*40 others(253): Show |
ZBED3 | ENSG00000132846.6 | transcript | ENST00000255198.3 | protein_coding | 3/3 | 4072 | chr5 | TogoVar | |||||
ZC3H12B_chrX_65029826_65512887 | 65450477 | G | GTATATAT others(235): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 165 | 0.0061 | 242 | c.-15 others(263): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ZNF543_chr19_57315472_57335770 | 57319459 | C | CATATATA others(235): Show |
upstream_gene_variant | MODIFIER | NA19082.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0052 | 1 | 460 | 0.0022 | 242 | c.-13 others(253): Show |
ZNF543 | ENSG00000178229.8 | transcript | ENST00000321545.5 | protein_coding | 1012 | chr19 | TogoVar | ||||||
ADAM18_chr8_39579568_39735065 | 39638375 | T | TAAAATTT others(236): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02572.hp2 HG02922.hp1 others(3): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0001a0004c0005t0001 | a0001c0002t0001g0259a0001c0002t0001g0292a0004c0005t0001g0294others(3): Show | 6 | 347 | 0.0173 | 243 | c.828 others(256): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAP1_chr7_892900_959680 | 906526 | G | GAGAAAGG others(236): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 14 | 0.0714 | 243 | c.389 others(260): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1238896 | C | CCCTCTGC others(236): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0033 | 1 | 106 | 0.0094 | 243 | c.136 others(262): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133112373 | T | TGTCGGTT others(236): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0256 | 1 | 368 | 0.0027 | 243 | c.401 others(260): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRE2_chr19_14727392_14783560 | 14774674 | T | TTTTCTTT others(236): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0017 | 1 | 218 | 0.0046 | 243 | c.32- others(256): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 2/20 | chr19 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77367803 | T | TGTTATAT others(236): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0140 | 1 | 284 | 0.0035 | 243 | c.891 others(262): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77367813 | T | TATATGTT others(236): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0187a0001c0001t0004g0024 | 2 | 284 | 0.0070 | 243 | c.891 others(262): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ANO10_chr3_43360848_43627011 | 43550707 | T | TAAGAAAT others(236): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005a0001c0001t0003g0009a0001c0001t0003g0014others(1): Show | 4 | 224 | 0.0179 | 243 | c.166 others(260): Show |
ANO10 | ENSG00000160746.13 | transcript | ENST00000292246.8 | protein_coding | 10/12 | chr3 | TogoVar | ||||||
ANO7_chr2_241183677_241230976 | 241218100 | G | GGGCAGCG others(236): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0320 | 1 | 396 | 0.0025 | 243 | c.217 others(260): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
API5_chr11_43306996_43349529 | 43335390 | C | CAAAACTT others(236): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 384 | 0.0026 | 243 | c.135 others(258): Show |
API5 | ENSG00000166181.13 | transcript | ENST00000531273.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ARFGAP1_chr20_63267813_63294790 | 63294172 | C | CGGGGGGA others(236): Show |
downstream_gene_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 342 | 0.0029 | 243 | c.*62 others(254): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 4383 | chr20 | TogoVar | ||||||
ARHGDIG_chr16_275591_288010 | 285909 | C | CCCAACCC others(236): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 442 | 0.0023 | 243 | c.*30 others(254): Show |
ARHGDIG | ENSG00000242173.10 | transcript | ENST00000219409.8 | protein_coding | 2900 | chr16 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130050112 | C | CACGGGGG others(236): Show |
downstream_gene_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0265 | 1 | 308 | 0.0033 | 243 | c.*46 others(254): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1991 | chr8 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 285909 | C | CCCAACCC others(236): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0060 | 1 | 378 | 0.0027 | 243 | c.*22 others(254): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1530 | chr16 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(236): Show |
intron_variant | MODIFIER | HG01099.hp2 HG03704.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0199a0001c0002t0001g0200 | 2 | 298 | 0.0067 | 243 | c.51+ others(256): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(236): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011 | 1 | 298 | 0.0034 | 243 | c.51+ others(256): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
BCHE_chr3_165767904_165842423 | 165797218 | T | TTCCTTCC others(236): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01517.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0002a0002c0002t0004g0003a0002c0002t0004g0034 | 9 | 304 | 0.0296 | 243 | c.151 others(264): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 2/3 | chr3 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 92012181 | C | CTCCCCTC others(236): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00733.hp2 others(37): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0009a0001c0010t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(37): Show | 40 | 330 | 0.1212 | 243 | c.431 others(260): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | chr10 | TogoVar | ||||||
C10orf90_chr10_126419997_126675693 | 126564843 | T | TTATATAT others(236): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0006 | a0006c0007 | a0006c0007t0006 | a0006c0007t0006g0168 | 1 | 218 | 0.0046 | 243 | c.314 others(262): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39601998 | T | TTCCTTCC others(236): Show |
intron_variant | MODIFIER | HG02622.hp2 NA19030.hp1 |
a0001 | a0001c0002a0001c0023 | a0001c0002t0004a0001c0023t0010 | a0001c0002t0004g0232a0001c0023t0010g0113 | 2 | 236 | 0.0085 | 243 | c.482 others(260): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CALCOCO2_chr17_48826035_48870245 | 48858046 | A | ATAGAATA others(236): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0050 | 1 | 328 | 0.0031 | 243 | c.100 others(262): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 10/12 | chr17 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761439 | A | AAGAAGAA others(236): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0273 | 1 | 364 | 0.0028 | 243 | c.234 others(260): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761439 | A | AAGAAGAA others(236): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0253 | 1 | 364 | 0.0028 | 243 | c.234 others(260): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761439 | A | AAGAAGAA others(236): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0024 | 1 | 364 | 0.0028 | 243 | c.234 others(260): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761439 | A | AAGAAGAA others(236): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0033 | 1 | 364 | 0.0028 | 243 | c.234 others(260): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761458 | A | AAGAAGAA others(236): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0230 | 1 | 364 | 0.0028 | 243 | c.234 others(260): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761488 | G | GGGAAGGG others(236): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0345 | 1 | 364 | 0.0028 | 243 | c.234 others(260): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTCCCC others(236): Show |
upstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 410 | 0.0024 | 243 | c.-22 others(254): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | ||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(236): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 410 | 0.0024 | 243 | c.-22 others(254): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | ||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(236): Show |
upstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 410 | 0.0024 | 243 | c.-22 others(254): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | ||||||
CCR9_chr3_45881543_45908174 | 45890256 | G | GAAATATA others(236): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 424 | 0.0024 | 243 | c.-29 others(260): Show |
CCR9 | ENSG00000173585.18 | transcript | ENST00000357632.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61283333 | C | CGTGTGTG others(236): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01243.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0023 | a0001c0001t0001g0049a0002c0002t0023g0102 | 2 | 106 | 0.0189 | 243 | c.169 others(262): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61283333 | C | CGTGTGTG others(236): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02630.hp2 |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0001a0002c0005t0007 | a0001c0003t0001g0038a0002c0005t0007g0097 | 2 | 106 | 0.0189 | 243 | c.169 others(262): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |