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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2125): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0040 | a0003c0040t0001 | a0003c0040t0001g0008 | 1 | 160 | 0.0063 | 2132 | c.742 others(2149): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2125): Show |
intron_variant | MODIFIER | HG02071.hp2 NA20905.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0298a0001c0002t0003g0315 | 2 | 362 | 0.0055 | 2132 | c.-56 others(2151): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2125): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0287 | 1 | 362 | 0.0028 | 2132 | c.-56 others(2151): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
RIN2_chr20_19753258_20007456 | 19924459 | C | CCCCCACC others(2125): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02683.hp2 HG03491.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0010 | a0001c0001t0001g0044a0001c0001t0004g0063a0001c0001t0004g0077others(2): Show | 5 | 276 | 0.0181 | 2132 | c.58- others(2149): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ZDHHC20_chr13_21367571_21464303 | 21377652 | T | TCTGCCCT others(2125): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 | 1 | 302 | 0.0033 | 2132 | c.*41 others(2147): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2126): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0049 | 1 | 116 | 0.0086 | 2133 | c.-52 others(2154): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2126): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0037 | a0037c0048 | a0037c0048t0002 | a0037c0048t0002g0100 | 1 | 170 | 0.0059 | 2133 | c.101 others(2152): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GALR1_chr18_77244848_77282900 | 77252899 | C | CCACCATC others(2126): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0109 | 1 | 366 | 0.0027 | 2133 | c.666 others(2150): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
LSS_chr21_46183446_46233774 | 46184617 | C | CCAACCCA others(2126): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01106.hp2 NA20805.hp2 |
a0001 | a0001c0006 | a0001c0006t0010 | a0001c0006t0010g0120a0001c0006t0010g0121a0001c0006t0010g0122 | 3 | 358 | 0.0084 | 2133 | c.*64 others(2144): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 3828 | chr21 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2126): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02723.hp1 HG02886.hp2 others(2): Show |
a0001a0003a0010 | a0001c0011a0001c0017a0003c0005others(1): Show | a0001c0011t0001a0001c0017t0002a0001c0017t0006others(2): Show | a0001c0011t0001g0039a0001c0017t0002g0040a0001c0017t0006g0055others(2): Show | 5 | 160 | 0.0313 | 2133 | c.742 others(2150): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2126): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02280.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0007a0001c0008a0001c0018 | a0001c0007t0022a0001c0007t0038a0001c0008t0017others(1): Show | a0001c0007t0022g0108a0001c0007t0038g0076a0001c0008t0017g0050others(1): Show | 4 | 160 | 0.0250 | 2133 | c.742 others(2150): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2126): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0009 | a0001c0009t0011 | a0001c0009t0011g0070 | 1 | 160 | 0.0063 | 2133 | c.742 others(2150): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17876937 | G | TGGAGGTT others(2126): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 1 | 274 | 0.0037 | 2133 | c.224 others(2152): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2126): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0123 | a0001c0001t0123g0213 | 1 | 302 | 0.0033 | 2133 | c.*39 others(2144): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(2126): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0110 | a0001c0001t0110g0211 | 1 | 302 | 0.0033 | 2133 | c.*39 others(2144): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2126): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0344 | 1 | 362 | 0.0028 | 2133 | c.-56 others(2152): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2126): Show |
downstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 375 | 0.0027 | 2133 | c.*44 others(2144): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251122 | C | CCACCACC others(2126): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 375 | 0.0027 | 2133 | c.*44 others(2144): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3107 | chr10 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2126): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0000 | 1 | 375 | 0.0027 | 2133 | c.*44 others(2144): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432156 | C | CAGGGTGG others(2126): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0265 | 1 | 376 | 0.0027 | 2133 | c.101 others(2150): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432174 | T | TAGGGTGG others(2126): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0341 | 1 | 376 | 0.0027 | 2133 | c.101 others(2150): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SPATC1L_chr21_46156160_46189459 | 46184617 | C | CCAACCCA others(2126): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01106.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0040 | a0001c0001t0016g0068a0001c0001t0016g0069a0001c0001t0040g0067 | 3 | 251 | 0.0120 | 2133 | c.-12 others(2144): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 159 | chr21 | TogoVar | ||||||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2126): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 320 | 0.0031 | 2133 | c.356 others(2148): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2127): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0044 | a0044c0043 | a0044c0043t0002 | a0044c0043t0002g0090 | 1 | 170 | 0.0059 | 2134 | c.101 others(2153): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2127): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0062 | a0001c0062t0002 | a0001c0062t0002g0112 | 1 | 170 | 0.0059 | 2134 | c.101 others(2153): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KREMEN1_chr22_29068035_29151820 | 29120443 | T | TGGAAATG others(2127): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0299 | 1 | 368 | 0.0027 | 2134 | c.353 others(2149): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(2127): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0011 | a0011c0013 | a0011c0013t0001 | a0011c0013t0001g0006 | 1 | 186 | 0.0054 | 2134 | c.956 others(2151): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2127): Show |
intron_variant | MODIFIER | NA20129.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0032 | a0001c0001t0019g0286a0001c0001t0032g0291 | 2 | 362 | 0.0055 | 2134 | c.-56 others(2153): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1525660 | C | CCCCCCCA others(2127): Show |
intron_variant | MODIFIER | NA19010.hp2 NA19058.hp2 |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0035a0003c0003t0004g0051 | 2 | 130 | 0.0154 | 2134 | c.261 others(2153): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ZNF605_chr12_132913306_132961306 | 132954439 | T | TGGGGGGG others(2127): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0122 | 1 | 126 | 0.0079 | 2134 | c.-28 others(2153): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
ZNF605_chr12_132913306_132961306 | 132954462 | G | GGAGGGGA others(2127): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0061 | 1 | 126 | 0.0079 | 2134 | c.-28 others(2153): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2128): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0075 | 1 | 170 | 0.0059 | 2135 | c.101 others(2154): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(2128): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 | 1 | 289 | 0.0035 | 2135 | c.228 others(2156): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FAM120B_chr6_170301758_170412067 | 170399047 | G | GAGTGAGT others(2128): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0203 | 1 | 289 | 0.0035 | 2135 | c.269 others(2154): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FZD3_chr8_28489212_28579258 | 28542375 | A | ACTCCTTT others(2128): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 328 | 0.0031 | 2135 | c.140 others(2154): Show |
FZD3 | ENSG00000104290.11 | transcript | ENST00000240093.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(2128): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0296 | 1 | 334 | 0.0030 | 2135 | c.45- others(2150): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SCUBE2_chr11_9014476_9096599 | 9082987 | T | TAAAAAGT others(2128): Show |
intron_variant | MODIFIER | NA18971.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0227a0001c0001t0003g0228 | 2 | 358 | 0.0056 | 2135 | c.257 others(2152): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2128): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0000 | a0000c0008 | a0000c0008t0012 | a0000c0008t0012g0208 | 1 | 418 | 0.0024 | 2135 | c.341 others(2152): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
VNN1_chr6_132675849_132719055 | 132706873 | G | GAAGTTAT others(2128): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0000 | a0000c0008 | a0000c0008t0032 | a0000c0008t0032g0203 | 1 | 418 | 0.0024 | 2135 | c.341 others(2152): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113418971 | C | CTCTTTTC others(2129): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0002 | a0002c0012 | a0002c0012t0003 | a0002c0012t0003g0149 | 1 | 262 | 0.0038 | 2136 | c.106 others(2155): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113418971 | C | CTCTTTTC others(2129): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0036 | a0036c0047 | a0036c0047t0015 | a0036c0047t0015g0151 | 1 | 262 | 0.0038 | 2136 | c.106 others(2155): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2129): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0058 | 1 | 104 | 0.0096 | 2136 | c.354 others(2155): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586503 | G | GGGGGAAA others(2129): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 308 | 0.0033 | 2136 | c.157 others(2153): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399426 | A | ACCACCAC others(2129): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 314 | 0.0032 | 2136 | c.-25 others(2153): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 356432 | C | CCACACAT others(2129): Show |
upstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0058 | 1 | 133 | 0.0075 | 2136 | c.-39 others(2147): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3626 | chr17 | TogoVar | ||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2129): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03098.hp1 HG03195.hp2 others(1): Show |
a0000a0011 | a0000c0005a0011c0019 | a0000c0005t0012a0000c0005t0021a0011c0019t0014 | a0000c0005t0012g0039a0000c0005t0021g0121a0011c0019t0014g0120 | 4 | 418 | 0.0096 | 2136 | c.341 others(2153): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200733 | C | CAGGGTCA others(2130): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0258 | 1 | 298 | 0.0034 | 2137 | c.955 others(2154): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | chr18 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2130): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0294 | 1 | 362 | 0.0028 | 2137 | c.-56 others(2156): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2130): Show |
upstream_gene_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 432 | 0.0023 | 2137 | c.-20 others(2148): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2130): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01175.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0067a0001c0001t0004g0085 | 2 | 276 | 0.0073 | 2137 | c.58- others(2154): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |