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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DPH1_chr17_2025153_2048898 | 2035415 | G | GCGGGGGT others(240): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 392 | 0.0026 | 247 | c.279 others(262): Show |
DPH1 | ENSG00000108963.19 | transcript | ENST00000263083.12 | protein_coding | 3/12 | chr17 | TogoVar | ||||||
DPYSL2_chr8_26509031_26663175 | 26556354 | A | ATATATAT others(240): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 316 | 0.0032 | 247 | c.355 others(266): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DVL1_chr1_1330278_1354418 | 1351094 | C | CGGGGGGG others(240): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0010 | 1 | 344 | 0.0029 | 247 | c.-20 others(258): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 1677 | chr1 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49440646 | T | TATATGAC others(240): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0095 | 1 | 290 | 0.0035 | 247 | c.-53 others(266): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71618349 | G | GTGGCATG others(240): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02965.hp1 HG03471.hp2 others(1): Show |
a0001a0007a0028 | a0001c0007a0001c0034a0007c0028others(1): Show | a0001c0007t0002a0001c0034t0001a0007c0028t0004others(1): Show | a0001c0007t0002g0142a0001c0034t0001g0092a0007c0028t0004g0047others(1): Show | 4 | 192 | 0.0208 | 247 | c.441 others(266): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71618349 | G | GTGGCATG others(240): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02965.hp2 HG03471.hp2 others(1): Show |
a0001a0009a0031 | a0001c0007a0001c0037a0009c0029others(1): Show | a0001c0007t0001a0001c0037t0001a0009c0029t0005others(1): Show | a0001c0007t0001g0139a0001c0037t0001g0044a0009c0029t0005g0084others(1): Show | 4 | 208 | 0.0192 | 247 | c.446 others(266): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | chr2 | TogoVar | ||||||
EGFL7_chr9_136657916_136677678 | 136671040 | G | GGGCAGGC others(240): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 432 | 0.0023 | 247 | c.636 others(261): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EIF4G3_chr1_20801479_21181897 | 21180050 | A | ATATTACA others(240): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 NA18942.hp2 NA18980.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0142others(1): Show | 4 | 312 | 0.0128 | 247 | c.-37 others(258): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3154 | chr1 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 21180071 | T | TATATATT others(240): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG02027.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0021a0001c0001t0002g0031a0001c0001t0002g0084 | 3 | 312 | 0.0096 | 247 | c.-38 others(258): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3175 | chr1 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110083967 | G | GATATAAC others(240): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 338 | 0.0030 | 247 | c.221 others(266): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 688310 | C | CCCGGCCC others(240): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG01070.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0145a0001c0001t0002g0249a0001c0001t0002g0255others(17): Show | 20 | 378 | 0.0529 | 247 | c.304 others(264): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 688311 | C | CCGGCCCT others(240): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0317 | 1 | 378 | 0.0027 | 247 | c.304 others(264): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
ESR2_chr14_64223317_64299371 | 64224413 | A | ATGCATGA others(240): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0047 | a0001c0001t0027g0352a0001c0001t0047g0356 | 2 | 368 | 0.0054 | 247 | c.*87 others(258): Show |
ESR2 | ENSG00000140009.19 | transcript | ENST00000341099.6 | protein_coding | 3903 | chr14 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137328596 | A | ACGGGAGC others(240): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0028 | a0028c0034 | a0028c0034t0001 | a0028c0034t0001g0067 | 1 | 82 | 0.0122 | 247 | c.199 others(266): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
FBXO34_chr14_55266421_55358611 | 55331803 | T | TATATATA others(240): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0310a0001c0001t0007g0322 | 2 | 334 | 0.0060 | 247 | c.-10 others(266): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586352 | G | GCCGGGGG others(240): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0004 | a0003c0004t0020 | a0003c0004t0020g0187 | 1 | 308 | 0.0033 | 247 | c.157 others(264): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
FOXP1_chr3_70949708_71588728 | 71327315 | G | GAAGCAGC others(240): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0045others(2): Show | a0001c0001t0001g0021a0001c0001t0005g0004a0001c0001t0045g0043others(2): Show | 5 | 96 | 0.0521 | 247 | c.-72 others(266): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 4/20 | chr3 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71327315 | G | GAAGCAGC others(240): Show |
intron_variant | MODIFIER | HG03540.hp1 NA19030.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0041a0001c0001t0072 | a0001c0001t0004g0056a0001c0001t0041g0090a0001c0001t0072g0005 | 3 | 96 | 0.0313 | 247 | c.-72 others(266): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 4/20 | chr3 | TogoVar | ||||||
FOXQ1_chr6_1307098_1319758 | 1317079 | C | CCCCTCCC others(240): Show |
downstream_gene_variant | MODIFIER | NA18965.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0000 | 1 | 406 | 0.0025 | 247 | c.*31 others(258): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2322 | chr6 | TogoVar | ||||||
FOXQ1_chr6_1307098_1319758 | 1317226 | C | CCTCCCCC others(240): Show |
downstream_gene_variant | MODIFIER | NA18994.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0000 | 1 | 406 | 0.0025 | 247 | c.*33 others(258): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2469 | chr6 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46145756 | C | CTTCCCCC others(240): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02280.hp1 HG02615.hp1 others(1): Show |
a0001 | a0001c0002a0001c0032 | a0001c0002t0001a0001c0002t0002a0001c0032t0001 | a0001c0002t0001g0115a0001c0002t0001g0116a0001c0002t0002g0087others(1): Show | 4 | 230 | 0.0174 | 247 | c.109 others(262): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 9/13 | chr21 | TogoVar | ||||||
GAK_chr4_844277_937316 | 903709 | G | GGGGGGGG others(240): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0236 | 1 | 390 | 0.0026 | 247 | c.525 others(262): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 5/27 | chr4 | TogoVar | ||||||
GPA33_chr1_167047836_167095377 | 167056759 | G | GTGTGTGT others(240): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02145.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0240a0001c0001t0003g0039a0001c0001t0007g0016others(6): Show | 11 | 370 | 0.0297 | 247 | c.572 others(262): Show |
GPA33 | ENSG00000143167.12 | transcript | ENST00000367868.4 | protein_coding | 4/6 | chr1 | TogoVar | ||||||
GPA33_chr1_167047836_167095377 | 167056759 | G | GTGTGTGT others(240): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(344): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(269): Show | 347 | 370 | 0.9378 | 247 | c.572 others(262): Show |
GPA33 | ENSG00000143167.12 | transcript | ENST00000367868.4 | protein_coding | 4/6 | chr1 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218244 | C | CAACACCA others(240): Show |
downstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 106 | 0.0094 | 247 | c.*27 others(258): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1075 | chr8 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240623436 | G | GTGAGGGT others(240): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0125 | 1 | 400 | 0.0025 | 247 | c.-21 others(258): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 2043 | chr2 | TogoVar | ||||||
GRHL3_chr1_24314357_24360318 | 24345043 | C | CCTCCACA others(240): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 372 | 0.0027 | 247 | c.145 others(264): Show |
GRHL3 | ENSG00000158055.17 | transcript | ENST00000361548.9 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GRK4_chr4_2958571_3045760 | 2961216 | A | ATTGTTAG others(240): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 268 | 0.0037 | 247 | c.-28 others(258): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2354 | chr4 | TogoVar | ||||||
GRM7_chr3_6856115_7746533 | 7276785 | T | TCCTTCCT others(240): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0054 | 1 | 80 | 0.0125 | 247 | c.737 others(266): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114761990 | C | CATATATG others(240): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 176 | 0.0057 | 247 | c.349 others(266): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | chrX | TogoVar | ||||||
HTR2C_chrX_114579086_114915061 | 114761990 | C | CATATATG others(240): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 176 | 0.0057 | 247 | c.349 others(266): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | chrX | TogoVar | ||||||
HTR2C_chrX_114579086_114915061 | 114761990 | C | CATATATG others(240): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 176 | 0.0057 | 247 | c.349 others(266): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | chrX | TogoVar | ||||||
IL1RAPL1_chrX_28582446_29961718 | 29507379 | C | CCCCTTCT others(240): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 135 | 0.0074 | 247 | c.703 others(268): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GATGGGCA others(240): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01361.hp2 HG02056.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0051a0002c0002t0001g0101a0002c0002t0001g0118others(1): Show | 4 | 204 | 0.0196 | 247 | c.978 others(264): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | chr10 | TogoVar | ||||||
IQCJ_chr3_159064319_159268747 | 159229742 | C | CCTCCTCC others(240): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 252 | 0.0040 | 247 | c.10- others(264): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
IRAG2_chr12_25047706_25113335 | 25106558 | G | GTTGCCTA others(240): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0301 | 1 | 344 | 0.0029 | 247 | c.114 others(264): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 20/21 | chr12 | TogoVar | ||||||
KATNIP_chr16_27545144_27785344 | 27713814 | A | ACATATTA others(240): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03130.hp2 NA18906.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0116a0001c0004t0001g0117a0001c0004t0001g0118 | 3 | 152 | 0.0197 | 247 | c.160 others(266): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 13/27 | chr16 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758784 | T | TCTCCTCT others(240): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0140 | 1 | 232 | 0.0043 | 247 | c.-67 others(266): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154755826 | A | AAGGAGGA others(240): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0006 | a0006c0012 | a0006c0012t0009 | a0006c0012t0009g0015 | 1 | 238 | 0.0042 | 247 | c.144 others(268): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 3/7 | chr1 | TogoVar | ||||||
KDM4B_chr19_4964113_5158598 | 5131575 | G | GGGGGGCA others(240): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0093 | 1 | 270 | 0.0037 | 247 | c.178 others(264): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KIF25_chr6_167992671_168050091 | 168035438 | C | CGGGGGGG others(240): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0104 | 1 | 375 | 0.0027 | 247 | c.317 others(264): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62349805 | T | TGGTGGGG others(240): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0074 | a0074c0049 | a0074c0049t0001 | a0074c0049t0001g0061 | 1 | 186 | 0.0054 | 247 | c.956 others(264): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
LAMC1_chr1_183018420_183150592 | 183149568 | T | TCTCCTCA others(240): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 HG03540.hp1 |
a0002a0004 | a0002c0021a0004c0007 | a0002c0021t0001a0004c0007t0005 | a0002c0021t0001g0221a0004c0007t0005g0223 | 2 | 308 | 0.0065 | 247 | c.*67 others(258): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 3977 | chr1 | TogoVar | ||||||
LMCD1_chr3_8496823_8579668 | 8502322 | T | TATATATA others(240): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 314 | 0.0032 | 247 | c.42+ others(260): Show |
LMCD1 | ENSG00000071282.12 | transcript | ENST00000157600.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LMF2_chr22_50497949_50512702 | 50504140 | A | ACCCCCCC others(240): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0042 | 1 | 414 | 0.0024 | 247 | c.171 others(264): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
LMF2_chr22_50497949_50512702 | 50504140 | A | ACCCCCCC others(240): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0155 | 1 | 414 | 0.0024 | 247 | c.171 others(264): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
LRRC23_chr12_6899822_6919229 | 6909284 | T | TATATAAT others(240): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 NA19240.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0019 | 3 | 316 | 0.0095 | 247 | c.622 others(262): Show |
LRRC23 | ENSG00000010626.15 | transcript | ENST00000443597.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LUC7L_chr16_183990_234449 | 187002 | G | GGAGGAAC others(240): Show |
downstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 350 | 0.0029 | 247 | c.*21 others(258): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 1987 | chr16 | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19478051 | A | AGGGGGGA others(240): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 163 | 0.0061 | 247 | c.525 others(264): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
MARCHF1_chr4_163519718_164389019 | 163894956 | T | TATATATA others(240): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0008 | 1 | 102 | 0.0098 | 247 | c.-38 others(266): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 3/9 | chr4 | TogoVar |