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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3582): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0091 | 1 | 250 | 0.0040 | 3589 | c.-21 others(3606): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33322737 | A | ACGGAATG others(3583): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0234 | 1 | 323 | 0.0031 | 3590 | c.-23 others(3601): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2232 | chr21 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(3584): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0206a0001c0004t0002g0207 | 2 | 298 | 0.0067 | 3591 | c.126 others(3608): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KRBA2_chr17_8353822_8381704 | 8370870 | A | AACAGAAA others(3584): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0008 | a0008c0009 | a0008c0009t0083 | a0008c0009t0083g0081 | 1 | 388 | 0.0026 | 3591 | c.-20 others(3606): Show |
KRBA2 | ENSG00000184619.8 | transcript | ENST00000396267.3 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1290128 | C | CCCCGTGT others(3585): Show |
downstream_gene_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0222 | 1 | 295 | 0.0034 | 3592 | c.*34 others(3603): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2262 | chr1 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(3586): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 298 | 0.0034 | 3593 | c.955 others(3610): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(3586): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0129 | 1 | 170 | 0.0059 | 3593 | c.642 others(3610): 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(3587): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0102 | 1 | 170 | 0.0059 | 3594 | c.642 others(3611): 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(3587): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0170 | 1 | 170 | 0.0059 | 3594 | c.642 others(3611): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137716360 | T | TGTGTTGG others(3588): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0169 | 1 | 170 | 0.0059 | 3595 | c.86- others(3608): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(3588): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0084 | 1 | 170 | 0.0059 | 3595 | c.642 others(3612): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GTPBP6_chrX_299759_323796 | 323694 | G | GTGTGTGT others(3588): Show |
upstream_gene_variant | MODIFIER | HG01169.hp1 | a0025 | a0025c0020 | a0025c0020t0002 | a0025c0020t0002g0026 | 1 | 155 | 0.0065 | 3595 | c.-49 others(3606): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4899 | chrX | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(3588): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 323 | 0.0031 | 3595 | c.-21 others(3606): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1072605 | G | GAGCCCCC others(3588): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0063 | 1 | 118 | 0.0085 | 3595 | c.224 others(3614): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084557 | A | AGTGGTAA others(3590): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0178 | 1 | 298 | 0.0034 | 3597 | c.126 others(3614): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586259 | G | GGGGAAAG others(3590): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0095 | 1 | 308 | 0.0033 | 3597 | c.157 others(3612): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3590): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0003 | a0003c0007 | a0003c0007t0016 | a0003c0007t0016g0081 | 1 | 250 | 0.0040 | 3597 | c.-21 others(3614): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3590): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0072 | 1 | 250 | 0.0040 | 3597 | c.-21 others(3614): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MED16_chr19_862963_898187 | 871894 | G | GGAGAGGG others(3591): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 56 | 0.0179 | 3598 | c.209 others(3613): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3591): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0089 | 1 | 250 | 0.0040 | 3598 | c.-21 others(3615): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 321920 | T | TGACCGAA others(3592): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0114 | a0002c0114t0001 | a0002c0114t0001g0015 | 1 | 256 | 0.0039 | 3599 | c.828 others(3616): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132241658 | C | CCACACCC others(3592): Show |
intron_variant | MODIFIER | HG01070.hp1 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083a0001c0001t0001g0122 | 2 | 183 | 0.0109 | 3599 | c.107 others(3618): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241658 | C | CCACACCC others(3592): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 183 | 0.0055 | 3599 | c.107 others(3618): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502737 | C | CGGGGGGG others(3592): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 188 | 0.0053 | 3599 | c.147 others(3618): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(3593): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0047 | 1 | 290 | 0.0035 | 3600 | c.-95 others(3619): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(3594): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 | 1 | 170 | 0.0059 | 3601 | c.642 others(3618): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(3596): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0102 | 1 | 298 | 0.0034 | 3603 | c.126 others(3620): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MORN1_chr1_2316253_2396554 | 2325121 | C | CCTTCCCT others(3596): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 80 | 0.0125 | 3603 | c.125 others(3620): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3596): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0003 | a0003c0004 | a0003c0004t0043 | a0003c0004t0043g0203 | 1 | 250 | 0.0040 | 3603 | c.-21 others(3620): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
UCKL1_chr20_63934829_63961416 | 63948575 | G | GGGGCGTG others(3596): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0293 | 1 | 356 | 0.0028 | 3603 | c.114 others(3620): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 978459 | C | CGTGGGGA others(3597): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0023 | 1 | 40 | 0.0250 | 3604 | c.73+ others(3621): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
OR2T1_chr1_248398048_248413020 | 248408307 | C | CGCATTTG others(3597): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 266 | 0.0038 | 3604 | c.*12 others(3615): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 288 | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248408307 | C | CGCATTTG others(3597): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 266 | 0.0038 | 3604 | c.*12 others(3615): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 288 | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248408307 | C | CGCATTTG others(3597): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 HG02486.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0043 | 4 | 266 | 0.0150 | 3604 | c.*12 others(3615): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 288 | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248408307 | C | CGCATTTG others(3597): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 266 | 0.0038 | 3604 | c.*12 others(3615): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 288 | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248408307 | C | CGCATTTG others(3597): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 266 | 0.0038 | 3604 | c.*12 others(3615): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 288 | chr1 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3597): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0074 | 1 | 250 | 0.0040 | 3604 | c.-21 others(3621): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3598): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0090 | 1 | 250 | 0.0040 | 3605 | c.-21 others(3622): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GTTGTGGT others(3599): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0086 | 1 | 298 | 0.0034 | 3606 | c.126 others(3623): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | chr3 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(3599): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0016 | a0016c0014 | a0016c0014t0007 | a0016c0014t0007g0219 | 1 | 292 | 0.0034 | 3606 | c.218 others(3621): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(3599): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0080 | 1 | 214 | 0.0047 | 3606 | c.206 others(3625): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3599): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0096 | 1 | 250 | 0.0040 | 3606 | c.-21 others(3623): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TNN_chr1_175062833_175153075 | 175103565 | G | GCTGTTTT others(3599): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03098.hp1 |
a0002 | a0002c0029 | a0002c0029t0003 | a0002c0029t0003g0053a0002c0029t0003g0054 | 2 | 374 | 0.0054 | 3606 | c.211 others(3625): Show |
TNN | ENSG00000120332.17 | transcript | ENST00000239462.9 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33322912 | T | TATATATA others(3600): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 323 | 0.0031 | 3607 | c.-21 others(3618): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2057 | chr21 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2539624 | C | CTTCATAA others(3601): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0097 | 1 | 104 | 0.0096 | 3608 | c.139 others(3629): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132149960 | C | CGCCGCCT others(3601): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 294 | 0.0034 | 3608 | c.902 others(3625): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGTG others(3601): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 212 | 0.0047 | 3608 | c.111 others(3625): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3601): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0004 | a0003c0004t0076 | a0003c0004t0076g0190 | 1 | 250 | 0.0040 | 3608 | c.-21 others(3625): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
FAM240C_chr2_241888988_241905464 | 241896756 | T | TGGGATGT others(3602): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 1 | 37 | 0.0270 | 3609 | c.161 others(3624): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
PRKX_chrX_3599340_3718649 | 3639519 | G | GGGGTGGA others(3603): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0045 | 1 | 227 | 0.0044 | 3610 | c.719 others(3627): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 4/8 | chrX | TogoVar |