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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1037): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 135 | 0.0074 | 1044 | c.*31 others(1055): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1037): Show |
downstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 | 1 | 135 | 0.0074 | 1044 | c.*31 others(1055): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
OTOG_chr11_17542259_17651044 | 17552549 | C | CCCCACCT others(1037): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0005 | a0005c0136 | a0005c0136t0001 | a0005c0136t0001g0257 | 1 | 148 | 0.0068 | 1044 | c.292 others(1059): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHKA1_chrX_72573814_72719306 | 72681736 | C | CCGCCCAG others(1037): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 161 | 0.0062 | 1044 | c.537 others(1061): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 5/31 | chrX | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1037): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0247 | 1 | 126 | 0.0079 | 1044 | c.45- others(1059): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77322971 | T | TTATATTA others(1037): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 125 | 0.0080 | 1044 | c.389 others(1065): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744325 | C | CCCTGGTT others(1037): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0023 | a0001c0023t0002 | a0001c0023t0002g0048 | 1 | 154 | 0.0065 | 1044 | c.655 others(1061): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744403 | C | CTACTAGC others(1037): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0058 | a0001c0058t0004 | a0001c0058t0004g0154 | 1 | 119 | 0.0084 | 1044 | c.655 others(1061): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744475 | T | TTGCTAGC others(1037): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0086 | a0001c0086t0004 | a0001c0086t0004g0172 | 1 | 146 | 0.0068 | 1044 | c.655 others(1061): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(1037): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0308 | 1 | 259 | 0.0039 | 1044 | c.101 others(1063): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431965 | G | GACAGGGT others(1037): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0288 | 1 | 374 | 0.0027 | 1044 | c.101 others(1063): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432012 | T | TAGGGTGG others(1037): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0262 | 1 | 278 | 0.0036 | 1044 | c.101 others(1061): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCTACC others(1037): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0114 | 1 | 201 | 0.0050 | 1044 | c.107 others(1061): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(1037): Show |
downstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0019 | 1 | 80 | 0.0125 | 1044 | c.*64 others(1055): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
TRIM48_chr11_55257155_55276114 | 55273323 | T | TTATATAT others(1037): Show |
downstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 144 | 0.0069 | 1044 | c.*28 others(1055): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2210 | chr11 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1037): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 2 | 150 | 0.0133 | 1044 | c.129 others(1061): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1037): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 149 | 0.0067 | 1044 | c.129 others(1061): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1037): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01099.hp2 HG01106.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0026 a0001c0001t0001g0106 a0001c0001t0001g0211 others(18): Show |
23 | 171 | 0.1345 | 1044 | c.129 others(1061): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1037): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG01952.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0095 others(3): Show |
8 | 156 | 0.0513 | 1044 | c.129 others(1061): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1037): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 a0001c0001t0001g0277 |
2 | 278 | 0.0072 | 1044 | c.129 others(1061): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1037): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 277 | 0.0036 | 1044 | c.129 others(1061): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1037): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 277 | 0.0036 | 1044 | c.129 others(1061): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1037): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 277 | 0.0036 | 1044 | c.129 others(1061): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351506 | C | CTCCTCTC others(1037): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 194 | 0.0052 | 1044 | c.*53 others(1055): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3708 | chr11 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(1037): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 HG04115.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0003 | a0001c0002t0001g0056 a0001c0004t0003g0110 |
2 | 3 | 0.6667 | 1044 | c.*53 others(1055): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
UVSSA_chr4_1342208_1393049 | 1372708 | A | AGCACTCA others(1037): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(23): Show |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0001a0002c0001t0001 | a0001c0004t0001g0004 a0001c0004t0001g0235 a0001c0004t0001g0236 others(20): Show |
26 | 379 | 0.0686 | 1044 | c.128 others(1063): Show |
UVSSA | ENSG00000163945.19 | transcript | ENST00000389851.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
UVSSA_chr4_1342208_1393049 | 1372708 | A | AGCACTCA others(1037): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0004 | a0001c0004t0044 | a0001c0004t0044g0237 | 1 | 354 | 0.0028 | 1044 | c.128 others(1063): Show |
UVSSA | ENSG00000163945.19 | transcript | ENST00000389851.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
UVSSA_chr4_1342208_1393049 | 1372720 | C | CTGCTACT others(1037): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0270 | 1 | 398 | 0.0025 | 1044 | c.128 others(1063): Show |
UVSSA | ENSG00000163945.19 | transcript | ENST00000389851.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ZNF85_chr19_20918251_20955697 | 20919187 | A | ATATACAA others(1037): Show |
upstream_gene_variant | MODIFIER | NA19010.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0237 | 1 | 376 | 0.0027 | 1044 | c.-42 others(1055): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4063 | chr19 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1038): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0190 | 1 | 3 | 0.3333 | 1045 | c.787 others(1060): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1038): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02027.hp1 HG02135.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(2): Show | a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0002g0082 others(8): Show |
11 | 13 | 0.8462 | 1045 | c.787 others(1060): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1038): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 8 | 0.1250 | 1045 | c.285 others(1064): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185647 | G | GGCATGTG others(1038): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0009 | a0009c0116 | a0009c0116t0006 | a0009c0116t0006g0177 | 1 | 326 | 0.0031 | 1045 | c.300 others(1062): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | ATAATATA others(1038): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 177 | 0.0056 | 1045 | c.342 others(1066): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1038): Show |
intron_variant | MODIFIER | HG03492.hp1 HG03704.hp1 |
a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0106 a0004c0002t0001g0143 |
2 | 9 | 0.2222 | 1045 | c.328 others(1062): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(1038): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0202 | 1 | 97 | 0.0103 | 1045 | c.923 others(1064): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(1038): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 125 | 0.0080 | 1045 | c.236 others(1064): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1038): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0098 | a0098c0016 | a0098c0016t0001 | a0098c0016t0001g0010 | 1 | 98 | 0.0102 | 1045 | c.118 others(1064): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DYSF_chr2_71448561_71691763 | 71618373 | A | ATGTGTGG others(1038): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00609.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 others(1): Show |
4 | 111 | 0.0360 | 1045 | c.441 others(1064): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71618373 | A | ATGTGTGG others(1038): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00673.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0099 a0001c0002t0001g0102 a0001c0002t0002g0182 |
3 | 122 | 0.0246 | 1045 | c.446 others(1064): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 675980 | T | TGAGGACA others(1038): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0298 | 1 | 359 | 0.0028 | 1045 | c.305 others(1062): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355485 | A | AGGAGAAA others(1038): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 62 | 0.0161 | 1045 | c.758 others(1060): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATAAA others(1038): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 12 | 0.0833 | 1045 | c.617 others(1062): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27388164 | A | AGGAAGGA others(1038): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 86 | 0.0116 | 1045 | c.574 others(1064): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
IL1RL1_chr2_102306563_102357037 | 102352800 | T | TAATATAA others(1038): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0048 | 1 | 235 | 0.0043 | 1045 | c.*87 others(1054): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 764 | chr2 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45228913 | A | AAGATCCC others(1038): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0073 | 1 | 308 | 0.0032 | 1045 | c.64+ others(1062): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997189 | C | CGGGGGAA others(1038): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 373 | 0.0027 | 1045 | c.-22 others(1056): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 481 | chr6 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1038): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02155.hp2 HG02300.hp1 others(4): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0140 a0001c0001t0001g0222 a0001c0001t0002g0144 others(4): Show |
7 | 153 | 0.0458 | 1045 | c.193 others(1064): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACACTT others(1038): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0125 | 1 | 215 | 0.0047 | 1045 | c.129 others(1062): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351506 | C | CTCCTCTC others(1038): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 307 | 0.0033 | 1045 | c.-49 others(1056): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4802 | chr11 | TogoVar |