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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADCY5_chr3_123277296_123454090 | 123314855 | T | TAGAAGGG others(1028): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0020 | a0001c0001t0015g0184a0001c0001t0020g0082 | 2 | 260 | 0.0077 | 1035 | c.235 others(1052): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 11/20 | chr3 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GGCGCCTG others(1028): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0046 | 1 | 342 | 0.0029 | 1035 | c.578 others(1048): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1028): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0025 | 1 | 238 | 0.0042 | 1035 | c.787 others(1050): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1028): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0220 | 1 | 238 | 0.0042 | 1035 | c.787 others(1050): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1028): Show |
intron_variant | MODIFIER | NA18953.hp1 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160a0001c0001t0001g0199 | 2 | 318 | 0.0063 | 1035 | c.285 others(1054): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1028): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 318 | 0.0031 | 1035 | c.285 others(1054): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1028): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110a0001c0001t0001g0116 | 2 | 318 | 0.0063 | 1035 | c.285 others(1054): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1028): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0198 | 1 | 318 | 0.0031 | 1035 | c.285 others(1054): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1028): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 318 | 0.0031 | 1035 | c.285 others(1054): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(1028): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0019 | 1 | 210 | 0.0048 | 1035 | c.273 others(1052): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CCDC77_chr12_396644_447642 | 422064 | C | CCTCCATG others(1028): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 432 | 0.0023 | 1035 | c.413 others(1052): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1028): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02895.hp2 HG02976.hp1 others(1): Show |
a0001a0015a0029 | a0001c0058a0015c0040a0015c0042others(1): Show | a0001c0058t0003a0015c0040t0001a0015c0042t0001others(1): Show | a0001c0058t0003g0333a0015c0040t0001g0246a0015c0042t0001g0247others(1): Show | 4 | 384 | 0.0104 | 1035 | c.273 others(1050): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1028): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 278 | 0.0036 | 1035 | c.328 others(1052): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1028): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0033 | a0033c0100 | a0033c0100t0002 | a0033c0100t0002g0028 | 1 | 278 | 0.0036 | 1035 | c.328 others(1052): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1028): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0034 | a0034c0038 | a0034c0038t0004 | a0034c0038t0004g0252 | 1 | 278 | 0.0036 | 1035 | c.328 others(1052): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1028): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0058 | 1 | 278 | 0.0036 | 1035 | c.328 others(1052): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1028): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0020 | a0020c0028 | a0020c0028t0002 | a0020c0028t0002g0249 | 1 | 278 | 0.0036 | 1035 | c.328 others(1052): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(1028): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0122 | 1 | 290 | 0.0035 | 1035 | c.-95 others(1054): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99819302 | T | TCCCTCCC others(1028): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0034 | 1 | 66 | 0.0152 | 1035 | c.56- others(1048): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EEF1A2_chr20_63483014_63504083 | 63486895 | C | CCCTCCAC others(1028): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0085 | 1 | 374 | 0.0027 | 1035 | c.*14 others(1046): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1118 | chr20 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29131600 | T | TCACACAC others(1028): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0003 | a0002c0003t0035 | a0002c0003t0035g0104 | 1 | 125 | 0.0080 | 1035 | c.928 others(1052): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 7/10 | chr15 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71680628 | T | TCCCTCCC others(1028): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02922.hp1 HG03130.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0008 | a0001c0001t0002g0015a0001c0001t0002g0024a0001c0005t0008g0023 | 3 | 76 | 0.0395 | 1035 | c.150 others(1054): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | chr7 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252905 | C | CCACCACC others(1028): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0274 | 1 | 366 | 0.0027 | 1035 | c.666 others(1052): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1028): Show |
intron_variant | MODIFIER | NA18991.hp2 NA19066.hp1 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0031 | a0001c0001t0001g0194a0004c0006t0031g0107 | 2 | 350 | 0.0057 | 1035 | c.94- others(1048): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HOMEZ_chr14_23267422_23291132 | 23280710 | T | TTTTTATT others(1028): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0189 | 1 | 394 | 0.0025 | 1035 | c.41- others(1050): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(1028): Show |
intron_variant | MODIFIER | HG01099.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0046 | a0001c0001t0011g0042a0001c0001t0046g0041 | 2 | 376 | 0.0053 | 1035 | c.666 others(1052): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916109 | T | TATATATA others(1028): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0004 | a0001c0004t0049 | a0001c0004t0049g0033 | 1 | 108 | 0.0093 | 1035 | c.648 others(1054): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MICAL3_chr22_17782649_18029561 | 17876951 | G | GTTAGGGA others(1028): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0179 | 1 | 274 | 0.0037 | 1035 | c.224 others(1054): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877117 | G | GGGAGGTT others(1028): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 274 | 0.0037 | 1035 | c.224 others(1054): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877369 | G | GGGAGGTT others(1028): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0008 | a0008c0027 | a0008c0027t0002 | a0008c0027t0002g0223 | 1 | 274 | 0.0037 | 1035 | c.224 others(1054): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(1028): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0003 | a0003c0004 | a0003c0004t0017 | a0003c0004t0017g0147 | 1 | 394 | 0.0025 | 1035 | c.-8+ others(1048): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
NKX1-1_chr4_1397932_1411442 | 1398437 | C | CGGGTGTT others(1028): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0001 | 1 | 382 | 0.0026 | 1035 | c.*44 others(1046): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4494 | chr4 | TogoVar | ||||||
NKX1-1_chr4_1397932_1411442 | 1398463 | G | GGTAGATC others(1028): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0001 | 2 | 382 | 0.0052 | 1035 | c.*44 others(1046): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4468 | chr4 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(1028): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 262 | 0.0038 | 1035 | c.129 others(1052): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50276402 | G | GCAGGGAG others(1028): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02965.hp1 NA20129.hp2 |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0249a0004c0008t0001g0250a0004c0008t0001g0253 | 3 | 302 | 0.0099 | 1035 | c.533 others(1052): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50276402 | G | GCAGGGAG others(1028): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG00673.hp2 others(10): Show |
a0001a0003a0025 | a0001c0006a0001c0050a0003c0043others(1): Show | a0001c0006t0001a0001c0050t0001a0003c0043t0001others(1): Show | a0001c0006t0001g0137a0001c0006t0001g0138a0001c0006t0001g0144others(10): Show | 13 | 302 | 0.0431 | 1035 | c.533 others(1052): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50276402 | G | GCAGGGAG others(1028): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03225.hp2 HG03453.hp1 |
a0002 | a0002c0032a0002c0073 | a0002c0032t0001a0002c0032t0013a0002c0073t0001 | a0002c0032t0001g0286a0002c0032t0013g0287a0002c0073t0001g0263 | 3 | 302 | 0.0099 | 1035 | c.533 others(1052): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50276402 | G | GCAGGGAG others(1028): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02717.hp1 HG02818.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0052a0001c0080a0002c0007others(4): Show | a0001c0052t0001a0001c0080t0001a0002c0007t0001others(4): Show | a0001c0052t0001g0076a0001c0080t0001g0078a0002c0007t0001g0122others(7): Show | 11 | 302 | 0.0364 | 1035 | c.533 others(1052): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50276402 | G | GCAGGGAG others(1028): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG03579.hp1 others(1): Show |
a0002 | a0002c0017 | a0002c0017t0004 | a0002c0017t0004g0124a0002c0017t0004g0125a0002c0017t0004g0126others(1): Show | 4 | 302 | 0.0133 | 1035 | c.533 others(1052): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133762 | C | CCTCTCTC others(1028): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 227 | 0.0044 | 1035 | c.*23 others(1046): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2050 | chr19 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1028): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0300 | 1 | 334 | 0.0030 | 1035 | c.45- others(1050): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1028): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0150 | 1 | 334 | 0.0030 | 1035 | c.45- others(1050): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RNF213_chr17_80255852_80403794 | 80274587 | T | TGGGGGGT others(1028): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0005 | a0005c0007 | a0005c0007t0009 | a0005c0007t0009g0218 | 1 | 292 | 0.0034 | 1035 | c.261 others(1052): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 221895 | T | TCAGCTCT others(1028): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0053 | 1 | 133 | 0.0075 | 1035 | c.614 others(1052): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 303485 | A | AAGGCTGT others(1028): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0066 | 1 | 133 | 0.0075 | 1035 | c.351 others(1054): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 303791 | A | AGCAGTGA others(1028): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0101 | 1 | 133 | 0.0075 | 1035 | c.351 others(1054): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(1028): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0173 | 1 | 232 | 0.0043 | 1035 | c.29- others(1050): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(1028): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0368 | 1 | 376 | 0.0027 | 1035 | c.101 others(1054): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31431976 | T | TAGGGTGG others(1028): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0213 | 1 | 376 | 0.0027 | 1035 | c.101 others(1052): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432156 | C | CAGGGTGG others(1028): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0343 | 1 | 376 | 0.0027 | 1035 | c.101 others(1052): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |