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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VPS13D_chr1_12225030_12517047 | 12415597 | T | TGAACTTG others(2308): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0005 | a0001c0005t0018 | a0001c0005t0018g0111 | 1 | 154 | 0.0065 | 2315 | c.121 others(2334): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 64/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2309): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 2 | 316 | 0.0063 | 2316 | c.44- others(2329): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2309): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 345 | 0.0029 | 2316 | c.*17 others(2327): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2309): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0099 | 1 | 298 | 0.0034 | 2316 | c.126 others(2333): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2309): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 421 | 0.0024 | 2316 | c.*22 others(2327): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711831 | C | CATCCCTA others(2309): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0274 | 1 | 328 | 0.0031 | 2316 | c.635 others(2335): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2309): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0052 | a0052c0118 | a0052c0118t0001 | a0052c0118t0001g0074 | 1 | 186 | 0.0054 | 2316 | c.723 others(2333): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952622 | T | TGGGGGGG others(2309): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0130 | 1 | 242 | 0.0041 | 2316 | c.360 others(2335): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2309): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0044 | a0044c0034 | a0044c0034t0002 | a0044c0034t0002g0049 | 1 | 216 | 0.0046 | 2316 | c.801 others(2333): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2309): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0138 | 1 | 216 | 0.0046 | 2316 | c.801 others(2333): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2309): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0026 | a0026c0069 | a0026c0069t0010 | a0026c0069t0010g0139 | 1 | 216 | 0.0046 | 2316 | c.801 others(2333): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2309): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0135 | 1 | 272 | 0.0037 | 2316 | c.-12 others(2337): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TMEM132D_chr12_129066726_129909025 | 129828762 | G | GGGAGGGA others(2309): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0003 | a0003c0005 | a0003c0005t0023 | a0003c0005t0023g0088 | 1 | 94 | 0.0106 | 2316 | c.79+ others(2333): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
TRIM66_chr11_8607040_8687665 | 8653897 | C | CAAGAACA others(2309): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0023 | a0023c0033 | a0023c0033t0032 | a0023c0033t0032g0107 | 1 | 390 | 0.0026 | 2316 | c.341 others(2333): Show |
TRIM66 | ENSG00000166436.18 | transcript | ENST00000646038.2 | protein_coding | 6/24 | chr11 | TogoVar | ||||||
ZNF273_chr7_64898273_64935981 | 64909632 | T | TGCATGTG others(2309): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0177 | 1 | 422 | 0.0024 | 2316 | c.102 others(2333): Show |
ZNF273 | ENSG00000198039.12 | transcript | ENST00000476120.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ZNF273_chr7_64898273_64935981 | 64909632 | T | TGCATGTG others(2309): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0178 | 1 | 422 | 0.0024 | 2316 | c.102 others(2333): Show |
ZNF273 | ENSG00000198039.12 | transcript | ENST00000476120.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2310): Show |
downstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 371 | 0.0027 | 2317 | c.*92 others(2328): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13384464 | G | GAAATGCT others(2310): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0188 | 1 | 212 | 0.0047 | 2317 | c.131 others(2336): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 4/17 | chr8 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185004 | T | TCCCCCTT others(2310): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0021 | a0021c0021 | a0021c0021t0001 | a0021c0021t0001g0105 | 1 | 174 | 0.0058 | 2317 | c.193 others(2336): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GAAGGGGG others(2310): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0015 | a0015c0020 | a0015c0020t0001 | a0015c0020t0001g0153 | 1 | 186 | 0.0054 | 2317 | c.723 others(2334): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2310): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0005 | 1 | 116 | 0.0086 | 2317 | c.522 others(2334): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2310): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 | 1 | 116 | 0.0086 | 2317 | c.522 others(2334): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2310): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0047 | a0047c0127 | a0047c0127t0022 | a0047c0127t0022g0071 | 1 | 292 | 0.0034 | 2317 | c.218 others(2332): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2310): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 216 | 0.0046 | 2317 | c.801 others(2334): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2311): Show |
intron_variant | MODIFIER | NA18951.hp2 NA19002.hp1 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238a0001c0001t0001g0241a0001c0001t0001g0243 | 3 | 320 | 0.0094 | 2318 | c.356 others(2333): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZDHHC11B_chr5_705355_789729 | 721255 | T | TAAAGATT others(2311): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0218 | 1 | 271 | 0.0037 | 2318 | c.105 others(2337): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 12/13 | chr5 | TogoVar | ||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(2311): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0062 | 1 | 126 | 0.0079 | 2318 | c.-28 others(2337): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958279 | T | TCACCACT others(2312): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0006 | a0001c0006t0024 | a0001c0006t0024g0208 | 1 | 230 | 0.0044 | 2319 | c.724 others(2338): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DNAJC12_chr10_67791669_67843188 | 67812103 | T | TAAAGACT others(2312): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 384 | 0.0026 | 2319 | c.158 others(2334): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711831 | C | CATCCCTA others(2312): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0273 | 1 | 328 | 0.0031 | 2319 | c.635 others(2338): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2312): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0104 | 1 | 116 | 0.0086 | 2319 | c.522 others(2336): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2312): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0010 | 1 | 116 | 0.0086 | 2319 | c.522 others(2336): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2312): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02273.hp1 NA18981.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011a0002c0002t0001g0057a0002c0002t0001g0066 | 3 | 116 | 0.0259 | 2319 | c.522 others(2336): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NXN_chr17_794310_984776 | 952763 | A | AGTCAGAG others(2312): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0009 | 1 | 242 | 0.0041 | 2319 | c.360 others(2338): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2312): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0025 | a0025c0024 | a0025c0024t0002 | a0025c0024t0002g0118 | 1 | 282 | 0.0036 | 2319 | c.299 others(2334): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
TPH1_chr11_18012555_18051269 | 18032085 | T | TAAAAAGG others(2312): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0165 | 1 | 398 | 0.0025 | 2319 | c.402 others(2336): Show |
TPH1 | ENSG00000129167.10 | transcript | ENST00000682019.1 | protein_coding | 4/10 | chr11 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12415597 | T | TGAACTTG others(2312): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0132 | 1 | 154 | 0.0065 | 2319 | c.121 others(2338): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 64/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(2313): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 342 | 0.0029 | 2320 | c.366 others(2337): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2313): Show |
downstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0356 | 1 | 371 | 0.0027 | 2320 | c.*92 others(2331): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
FNDC10_chr1_1593012_1605135 | 1595118 | G | GAGGCAGA others(2313): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 406 | 0.0025 | 2320 | c.*42 others(2331): Show |
FNDC10 | ENSG00000228594.4 | transcript | ENST00000422725.4 | protein_coding | 2893 | chr1 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344611 | G | AGGGGGTT others(2313): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 367 | 0.0027 | 2320 | c.4-1 others(2333): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
SLC10A7_chr4_146248981_146526940 | 146286440 | C | CTGGAGTG others(2313): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0175 | 1 | 244 | 0.0041 | 2320 | c.774 others(2337): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | ||||||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2313): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 320 | 0.0031 | 2320 | c.356 others(2335): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2314): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 104 | 0.0096 | 2321 | c.354 others(2340): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2314): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG02896.hp1 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0141a0001c0001t0001g0145others(2): Show | 6 | 301 | 0.0199 | 2321 | c.-11 others(2332): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2314): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0039 | a0039c0117 | a0039c0117t0003 | a0039c0117t0003g0111 | 1 | 216 | 0.0046 | 2321 | c.801 others(2338): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2314): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0029 | a0029c0071 | a0029c0071t0001 | a0029c0071t0001g0129 | 1 | 216 | 0.0046 | 2321 | c.801 others(2338): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2314): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2321 | c.*44 others(2332): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2314): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2321 | c.*44 others(2332): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2314): Show |
downstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2321 | c.*44 others(2332): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar |