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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRSK2_chr11_1384934_1467689 | 1432006 | C | CGGTCTGG others(2034): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0115 | 1 | 347 | 0.0029 | 2041 | c.92- others(2056): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(2034): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0153 | 1 | 103 | 0.0097 | 2041 | c.300 others(2058): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2034): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 2 | 0.5000 | 2041 | c.44- others(2054): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274561 | A | ATAATCCA others(2034): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 132 | 0.0076 | 2041 | c.-90 others(2056): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2034): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0004 | a0004c0010 | a0004c0010t0003 | a0004c0010t0003g0159 | 1 | 22 | 0.0455 | 2041 | c.-90 others(2056): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911541 | C | CTGTCCTG others(2034): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0019 | a0019c0020 | a0019c0020t0001 | a0019c0020t0001g0012 | 1 | 127 | 0.0079 | 2041 | c.101 others(2060): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586499 | C | CAGGGGGG others(2034): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0078 | 1 | 271 | 0.0037 | 2041 | c.157 others(2058): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2034): Show |
downstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0017 | 1 | 66 | 0.0152 | 2041 | c.*68 others(2052): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 316301 | G | GACACAGA others(2034): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0094 | 1 | 67 | 0.0149 | 2041 | c.487 others(2056): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 316301 | G | GACACAGA others(2034): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02970.hp2 |
a0015a0017 | a0015c0018a0017c0019 | a0015c0018t0004a0017c0019t0001 | a0015c0018t0004g0080 a0017c0019t0001g0079 |
2 | 68 | 0.0294 | 2041 | c.487 others(2056): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173044 | C | CCTCTCCT others(2034): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0016 | a0002c0016t0006 | a0002c0016t0006g0099 | 1 | 117 | 0.0085 | 2041 | c.*11 others(2062): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2034): Show |
downstream_gene_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 224 | 0.0045 | 2041 | c.*39 others(2052): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948597 | G | GGCGTGTG others(2034): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0025 | 1 | 348 | 0.0029 | 2041 | c.114 others(2058): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2035): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 50 | 0.0200 | 2042 | c.147 others(2059): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(2035): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0078 | a0002c0078t0005 | a0002c0078t0005g0248 | 1 | 103 | 0.0097 | 2042 | c.300 others(2059): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1274576 | C | CGGCCTCC others(2035): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0003 | 1 | 22 | 0.0455 | 2042 | c.-90 others(2057): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323368 | G | GAATATAT others(2035): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 3 | 0.3333 | 2042 | c.-16 others(2053): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1601 | chr21 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124439377 | G | GGAGACAG others(2035): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0099 a0001c0005t0002g0100 |
2 | 37 | 0.0541 | 2042 | c.816 others(2059): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2035): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 a0001c0001t0001g0231 |
2 | 225 | 0.0089 | 2042 | c.*39 others(2053): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
VCX2_chrX_8164944_8176267 | 8169595 | T | TCCTCCCT others(2035): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0052 | 1 | 55 | 0.0182 | 2042 | c.*43 others(2051): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 348 | chrX | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CTCCTCCT others(2036): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0082 | 1 | 44 | 0.0227 | 2043 | c.108 others(2060): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 29063614 | C | CGGGGAGT others(2036): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0002 | a0002c0006 | a0002c0006t0016 | a0002c0006t0016g0099 a0002c0006t0016g0100 |
2 | 114 | 0.0175 | 2043 | c.951 others(2060): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(2036): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0007 | 1 | 9 | 0.1111 | 2043 | c.565 others(2060): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2036): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0142 | 1 | 2 | 0.5000 | 2043 | c.44- others(2056): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2036): Show |
downstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0148 | 1 | 69 | 0.0145 | 2043 | c.*52 others(2054): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 478044 | G | GAGGAGAA others(2036): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0063 | 1 | 88 | 0.0114 | 2043 | c.158 others(2060): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2036): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0073 | 1 | 2 | 0.5000 | 2043 | c.126 others(2060): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2036): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0067 | 1 | 2 | 0.5000 | 2043 | c.126 others(2060): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 323556 | G | GTGTGTGT others(2036): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0002 | 1 | 149 | 0.0067 | 2043 | c.-47 others(2054): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4761 | chrX | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCCC others(2036): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0151 | 1 | 17 | 0.0588 | 2043 | c.*11 others(2064): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCTCTCAC others(2036): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0361 | 1 | 2 | 0.5000 | 2043 | c.438 others(2060): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432164 | A | ATAGGGTG others(2036): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0098 | 1 | 325 | 0.0031 | 2043 | c.101 others(2060): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50029061 | A | ACCCCACA others(2036): Show |
intron_variant | MODIFIER | HG01496.hp2 HG03195.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0194 a0004c0004t0001g0202 |
2 | 180 | 0.0111 | 2043 | c.225 others(2062): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758488 | C | CCACCTGC others(2037): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 244 | 0.0041 | 2044 | c.655 others(2063): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471376 | T | TATATATG others(2037): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0063 | 1 | 117 | 0.0085 | 2044 | c.183 others(2063): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586499 | C | CGGGGGGG others(2037): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0006 | a0006c0024 | a0006c0024t0002 | a0006c0024t0002g0056 | 1 | 271 | 0.0037 | 2044 | c.157 others(2061): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
KANK1_chr9_499695_751103 | 514222 | T | TCCTCTCT others(2037): Show |
intron_variant | MODIFIER | HG02723.hp1 HG06807.hp2 |
a0015 | a0015c0016 | a0015c0016t0001 | a0015c0016t0001g0226 a0015c0016t0001g0232 |
2 | 207 | 0.0097 | 2044 | c.-84 others(2061): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124439344 | G | GAGAGAGA others(2037): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02071.hp1 HG02129.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0026a0001c0027a0002c0015others(9): Show | a0001c0026t0060a0001c0027t0025a0002c0015t0069others(9): Show | a0001c0026t0060g0110 a0001c0027t0025g0168 a0002c0015t0069g0227 others(10): Show |
13 | 177 | 0.0734 | 2044 | c.816 others(2061): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(2037): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0024 | a0024c0053 | a0024c0053t0001 | a0024c0053t0001g0233 | 1 | 329 | 0.0030 | 2044 | c.307 others(2061): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(2037): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0042 | a0001c0042t0001 | a0001c0042t0001g0161 | 1 | 329 | 0.0030 | 2044 | c.307 others(2061): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(2037): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0328 | 1 | 329 | 0.0030 | 2044 | c.307 others(2061): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(2037): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0027 | 1 | 329 | 0.0030 | 2044 | c.307 others(2061): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(2037): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0027 | 1 | 329 | 0.0030 | 2044 | c.307 others(2061): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(2037): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02074.hp2 HG02523.hp1 others(5): Show |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0028 a0002c0007t0001g0219 a0002c0007t0001g0223 others(4): Show |
8 | 336 | 0.0238 | 2044 | c.307 others(2061): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(2037): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0230 | 1 | 329 | 0.0030 | 2044 | c.307 others(2061): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(2037): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0226 | 1 | 329 | 0.0030 | 2044 | c.307 others(2061): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(2037): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0062 | a0001c0062t0002 | a0001c0062t0002g0306 | 1 | 329 | 0.0030 | 2044 | c.307 others(2061): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(2037): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0160 | 1 | 329 | 0.0030 | 2044 | c.307 others(2061): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(2037): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0159 | 1 | 329 | 0.0030 | 2044 | c.307 others(2061): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(2037): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0012 | a0012c0065 | a0012c0065t0002 | a0012c0065t0002g0245 | 1 | 329 | 0.0030 | 2044 | c.307 others(2061): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar |