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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATTTATA others(1941): Show |
upstream_gene_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 8 | 0.1250 | 1948 | c.-20 others(1959): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TTTATACA others(1941): Show |
upstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 8 | 0.1250 | 1948 | c.-20 others(1959): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1941): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0015 | a0015c0021 | a0015c0021t0001 | a0015c0021t0001g0324 | 1 | 126 | 0.0079 | 1948 | c.45- others(1963): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948633 | A | AGGGGCGT others(1941): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 47 | 0.0213 | 1948 | c.114 others(1965): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(1942): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0010 | a0010c0084 | a0010c0084t0002 | a0010c0084t0002g0104 | 1 | 97 | 0.0103 | 1949 | c.101 others(1968): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(1942): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0063 | 1 | 9 | 0.1111 | 1949 | c.642 others(1966): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(1942): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0166 | 1 | 9 | 0.1111 | 1949 | c.642 others(1966): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FLG_chr1_152297165_152330239 | 152306864 | T | TTGTCCGT others(1942): Show |
frameshift_variant others(1): Show |
HIGH | HG02717.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0002 | 1 | 424 | 0.0024 | 1949 | c.802 others(1958): Show |
p.Ala others(6): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8093/12793 | 8021/12186 | 2674/4061 | chr1 | TogoVar | |||
LAMA5_chr20_62304065_62372312 | 62349742 | G | GGTGGGGG others(1942): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0023 | a0023c0022 | a0023c0022t0001 | a0023c0022t0001g0155 | 1 | 170 | 0.0059 | 1949 | c.956 others(1966): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
TMEM132C_chr12_128262170_128712911 | 128708403 | C | CACTCACC others(1942): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0071 | 1 | 136 | 0.0074 | 1949 | c.*21 others(1960): Show |
TMEM132C | ENSG00000181234.10 | transcript | ENST00000435159.3 | protein_coding | 493 | chr12 | TogoVar | |||||||
TMEM132C_chr12_128262170_128712911 | 128708403 | C | CACTCACC others(1942): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG02559.hp2 |
a0005a0013 | a0005c0005a0013c0063 | a0005c0005t0002a0013c0063t0002 | a0005c0005t0002g0036 a0013c0063t0002g0075 |
2 | 137 | 0.0146 | 1949 | c.*21 others(1960): Show |
TMEM132C | ENSG00000181234.10 | transcript | ENST00000435159.3 | protein_coding | 493 | chr12 | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(1943): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 16 | 0.0625 | 1950 | c.164 others(1969): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(1943): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 1 | 9 | 0.1111 | 1950 | c.642 others(1967): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(1943): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 9 | 0.1111 | 1950 | c.642 others(1967): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FAM163B_chr9_133572081_133614389 | 133588616 | A | AGGATCTA others(1943): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0086 | 1 | 376 | 0.0027 | 1950 | c.-23 others(1967): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FAM163B_chr9_133572081_133614389 | 133588616 | A | AGGATCTA others(1943): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0060 | 1 | 376 | 0.0027 | 1950 | c.-23 others(1967): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(1943): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0108 | 1 | 95 | 0.0105 | 1950 | c.*11 others(1971): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349743 | G | GTGGGGGT others(1943): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0049 | a0049c0059 | a0049c0059t0001 | a0049c0059t0001g0031 | 1 | 170 | 0.0059 | 1950 | c.956 others(1967): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
PIP5K1C_chr19_3625183_3705468 | 3649163 | A | ATGCCCAC others(1943): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0170 | 1 | 250 | 0.0040 | 1950 | c.112 others(1967): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TTTATACA others(1943): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 8 | 0.1250 | 1950 | c.-20 others(1961): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 458501 | C | CCACAGGG others(1943): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0108 | 1 | 280 | 0.0036 | 1950 | c.715 others(1967): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458567 | G | GTTCAGTG others(1943): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0004 | a0004c0007 | a0004c0007t0022 | a0004c0007t0022g0185 | 1 | 263 | 0.0038 | 1950 | c.715 others(1967): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(1943): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0014 | 1 | 207 | 0.0048 | 1950 | c.715 others(1967): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(1943): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 35 | 0.0286 | 1950 | c.*35 others(1969): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811321 | T | TCCTTCCT others(1944): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 62 | 0.0161 | 1951 | c.773 others(1966): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1944): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 210 | 0.0048 | 1951 | c.*22 others(1962): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1944): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG01891.hp2 HG02055.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022 | a0001c0001t0002g0012 a0001c0001t0002g0019 a0001c0001t0022g0019 |
9 | 218 | 0.0413 | 1951 | c.*22 others(1962): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502720 | G | GGGGGGGA others(1944): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 186 | 0.0054 | 1951 | c.147 others(1968): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492388 | A | AGCCCTTC others(1944): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0110 | 1 | 132 | 0.0076 | 1951 | c.126 others(1970): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1944): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 146 | 0.0068 | 1951 | c.114 others(1968): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287054 | A | ACTACATA others(1945): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0115 | 1 | 433 | 0.0023 | 1952 | c.51+ others(1967): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287313 | A | CCATACTA others(1945): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0068 | 1 | 445 | 0.0022 | 1952 | c.51+ others(1967): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(1945): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 2 | 0.5000 | 1952 | c.44- others(1965): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251105 | C | CACACCCC others(1945): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 104 | 0.0096 | 1952 | c.207 others(1971): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355563 | G | GGAGGAAG others(1945): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 63 | 0.0159 | 1952 | c.757 others(1967): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
FAM120B_chr6_170301758_170412067 | 170377053 | A | ACCCAGAC others(1945): Show |
intron_variant | MODIFIER | HG02523.hp1 HG03927.hp1 NA19009.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055 a0001c0002t0001g0061 a0001c0002t0001g0067 |
3 | 262 | 0.0115 | 1952 | c.228 others(1973): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377053 | A | ACCCAGAC others(1945): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0065 | 1 | 260 | 0.0038 | 1952 | c.228 others(1973): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377053 | A | ACCCAGAC others(1945): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 | 1 | 260 | 0.0038 | 1952 | c.228 others(1973): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664492 | T | TGTCTCCT others(1945): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0201 | 1 | 206 | 0.0049 | 1952 | c.433 others(1969): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1945): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 210 | 0.0048 | 1952 | c.*22 others(1963): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1945): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 210 | 0.0048 | 1952 | c.*22 others(1963): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1945): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 210 | 0.0048 | 1952 | c.*22 others(1963): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1945): Show |
downstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 210 | 0.0048 | 1952 | c.*22 others(1963): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1945): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 210 | 0.0048 | 1952 | c.*22 others(1963): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917309 | G | GGGCTCGG others(1945): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0083 | 1 | 92 | 0.0109 | 1952 | c.218 others(1969): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | chr12 | TogoVar | |||||||
ZNF764_chr16_30548764_30563374 | 30552391 | T | TAAAAATA others(1945): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 346 | 0.0029 | 1952 | c.*28 others(1963): Show |
ZNF764 | ENSG00000169951.10 | transcript | ENST00000395091.3 | protein_coding | 1372 | chr16 | TogoVar | |||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1946): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 134 | 0.0075 | 1953 | c.403 others(1968): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586209 | A | AGGGGAAA others(1946): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 248 | 0.0040 | 1953 | c.157 others(1968): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399335 | C | CACCACCA others(1946): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 291 | 0.0034 | 1953 | c.-25 others(1970): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MEIOB_chr16_1828986_1877164 | 1871894 | A | AGGTTGCA others(1946): Show |
intron_variant | MODIFIER | HG02559.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 a0001c0001t0001g0141 |
2 | 85 | 0.0235 | 1953 | c.-10 others(1966): Show |
MEIOB | ENSG00000162039.18 | transcript | ENST00000325962.9 | protein_coding | 1/13 | chr16 | TogoVar |