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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2113): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 4 | 0.2500 | 2120 | c.972 others(2133): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2113): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 95 | 0.0105 | 2120 | c.*11 others(2141): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952763 | A | AGTCAGAG others(2113): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0018 | 1 | 148 | 0.0068 | 2120 | c.360 others(2139): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 101922 | C | CCTGGAAA others(2113): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0020 | a0020c0063 | a0020c0063t0021 | a0020c0063t0021g0188 | 1 | 192 | 0.0052 | 2120 | c.45+ others(2135): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2113): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG01515.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0000 a0001c0001t0006g0000 |
2 | 222 | 0.0090 | 2120 | c.*44 others(2131): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2113): Show |
downstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 1 | 221 | 0.0045 | 2120 | c.*44 others(2131): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
WDR49_chr3_167473684_167658942 | 167547408 | T | TAGAAAAA others(2113): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 207 | 0.0048 | 2120 | c.182 others(2139): Show |
WDR49 | ENSG00000174776.12 | transcript | ENST00000682715.1 | protein_coding | 10/18 | chr3 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2114): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0007 | a0007c0008 | a0007c0008t0024 | a0007c0008t0024g0056 | 1 | 44 | 0.0227 | 2121 | c.108 others(2138): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469984 | A | AGGGGAGG others(2114): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0006 | a0006c0034 | a0006c0034t0002 | a0006c0034t0002g0066 | 1 | 99 | 0.0101 | 2121 | c.354 others(2140): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 650720 | G | GGACTGTG others(2114): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 89 | 0.0112 | 2121 | c.177 others(2140): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2114): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0003 | a0003c0003 | a0003c0003t0008 | a0003c0003t0008g0032 | 1 | 69 | 0.0145 | 2121 | c.*52 others(2132): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2114): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0038 | a0001c0001t0008g0144 a0001c0001t0008g0161 a0001c0001t0008g0170 others(3): Show |
6 | 229 | 0.0262 | 2121 | c.*39 others(2132): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2114): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0191 | 1 | 224 | 0.0045 | 2121 | c.*39 others(2132): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2114): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 NA19004.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 a0001c0001t0001g0250 a0001c0001t0001g0252 |
3 | 226 | 0.0133 | 2121 | c.*39 others(2132): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2114): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 NA18747.hp1 NA18950.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0009 | a0001c0001t0001g0230 a0001c0001t0001g0251 a0001c0001t0001g0265 others(3): Show |
6 | 229 | 0.0262 | 2121 | c.*39 others(2132): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2114): Show |
downstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0240 | 1 | 224 | 0.0045 | 2121 | c.*39 others(2132): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494663 | G | GAGGGGAC others(2114): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0236 | 1 | 300 | 0.0033 | 2121 | c.*39 others(2132): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2594 | chr7 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50397972 | C | CGGGGGGG others(2114): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0018 | a0018c0028 | a0018c0028t0002 | a0018c0028t0002g0090 | 1 | 260 | 0.0038 | 2121 | c.227 others(2138): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | chr22 | TogoVar | |||||||
TBCB_chr19_36110468_36130941 | 36126419 | C | CAAAAAAA others(2114): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 436 | 0.0023 | 2121 | c.*63 others(2130): Show |
TBCB | ENSG00000105254.12 | transcript | ENST00000221855.8 | protein_coding | 479 | chr19 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2115): Show |
intron_variant | MODIFIER | NA19066.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0077 |
2 | 14 | 0.1429 | 2122 | c.354 others(2141): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(2115): Show |
intron_variant | MODIFIER | NA18963.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0035 |
2 | 40 | 0.0500 | 2122 | c.177 others(2141): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(2115): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 39 | 0.0256 | 2122 | c.177 others(2141): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(2115): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01070.hp2 HG01175.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0030 a0001c0001t0001g0034 others(11): Show |
14 | 52 | 0.2692 | 2122 | c.177 others(2141): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(2115): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 39 | 0.0256 | 2122 | c.177 others(2141): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2115): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 2 | 0.5000 | 2122 | c.-52 others(2143): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2115): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 2 | 0.5000 | 2122 | c.44- others(2135): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2115): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0165 | 1 | 158 | 0.0063 | 2122 | c.126 others(2139): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185174 | T | TTCCCCTT others(2115): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0111 | 1 | 161 | 0.0062 | 2122 | c.193 others(2141): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 186101 | G | GGGAGGAA others(2115): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 346 | 0.0029 | 2122 | c.*30 others(2133): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2888 | chr16 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2115): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0246 | 1 | 224 | 0.0045 | 2122 | c.*39 others(2133): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2115): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 224 | 0.0045 | 2122 | c.*39 others(2133): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2115): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 8 | 0.1250 | 2122 | c.-20 others(2133): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATTTATA others(2115): Show |
upstream_gene_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 8 | 0.1250 | 2122 | c.-20 others(2133): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2115): Show |
downstream_gene_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2122 | c.*44 others(2133): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2115): Show |
downstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2122 | c.*44 others(2133): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(2115): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0066 | 1 | 21 | 0.0476 | 2122 | c.127 others(2139): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(2115): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 21 | 0.0476 | 2122 | c.127 others(2139): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2116): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 50 | 0.0200 | 2123 | c.147 others(2140): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2116): Show |
intron_variant | MODIFIER | NA18998.hp2 NA19082.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0095 a0002c0002t0001g0149 |
2 | 6 | 0.3333 | 2123 | c.742 others(2140): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2116): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00639.hp2 others(37): Show |
a0001a0002a0003others(5): Show | a0001c0003a0001c0004a0001c0022others(14): Show | a0001c0003t0001a0001c0003t0012a0001c0003t0019others(20): Show | a0001c0003t0001g0083 a0001c0003t0001g0099 a0001c0003t0012g0097 others(37): Show |
40 | 44 | 0.9091 | 2123 | c.742 others(2140): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2116): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0013 | a0002c0013t0003 | a0002c0013t0003g0141 | 1 | 5 | 0.2000 | 2123 | c.742 others(2140): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2116): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0003 | a0003c0020 | a0003c0020t0003 | a0003c0020t0003g0022 | 1 | 5 | 0.2000 | 2123 | c.742 others(2140): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952751 | G | GGGGGGGC others(2116): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0213 | 1 | 154 | 0.0065 | 2123 | c.360 others(2142): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952751 | G | GGGGGGGC others(2116): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0232 | 1 | 154 | 0.0065 | 2123 | c.360 others(2142): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2116): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2123 | c.*44 others(2134): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2116): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2123 | c.*44 others(2134): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2116): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG01433.hp1 others(18): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0005a0004c0003t0001 | a0001c0001t0001g0000 a0001c0001t0005g0000 a0004c0003t0001g0000 |
21 | 241 | 0.0871 | 2123 | c.*44 others(2134): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2116): Show |
downstream_gene_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2123 | c.*44 others(2134): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2116): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 HG01346.hp2 HG01358.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0006 | a0001c0001t0001g0000 a0002c0002t0006g0000 |
3 | 223 | 0.0135 | 2123 | c.*44 others(2134): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2116): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01081.hp1 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0000 | 2 | 222 | 0.0090 | 2123 | c.*44 others(2134): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar |