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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MCTP2_chr15_94226561_94488952 | 94243452 | T | TATATGCG others(277): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0073 | 1 | 276 | 0.0036 | 284 | c.-66 others(303): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
METTL22_chr16_8616698_8654654 | 8640836 | G | GGATGGAT others(277): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0153 | 1 | 390 | 0.0026 | 284 | c.773 others(299): Show |
METTL22 | ENSG00000067365.15 | transcript | ENST00000381920.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGAGG others(277): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0182 | 1 | 280 | 0.0036 | 284 | c.641 others(299): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
MID2_chrX_107820866_107936637 | 107910768 | T | TTTTCCTT others(277): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0110 | 1 | 181 | 0.0055 | 284 | c.107 others(303): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGAT others(277): Show |
intron_variant | MODIFIER | HG03130.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0024 | a0001c0001t0014g0169 a0001c0001t0024g0240 |
2 | 384 | 0.0052 | 284 | c.160 others(301): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(277): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01346.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0353 a0001c0001t0009g0198 a0001c0001t0009g0203 |
3 | 384 | 0.0078 | 284 | c.160 others(301): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(277): Show |
intron_variant | MODIFIER | HG01346.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0359 a0001c0001t0004g0194 |
2 | 384 | 0.0052 | 284 | c.160 others(301): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(277): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 a0001c0001t0002g0147 |
2 | 384 | 0.0052 | 284 | c.160 others(301): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77192977 | G | GCGATGGT others(277): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0126 | 1 | 356 | 0.0028 | 284 | c.415 others(301): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | chr11 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158667840 | C | CCTTACCC others(277): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 378 | 0.0027 | 284 | c.148 others(303): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCGGT others(277): Show |
upstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 | 1 | 384 | 0.0026 | 284 | c.-41 others(295): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
NDUFB1_chr14_92111123_92126706 | 92120589 | G | GTCCGCCC others(277): Show |
intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 442 | 0.0023 | 284 | c.-6+ others(299): Show |
NDUFB1 | ENSG00000183648.11 | transcript | ENST00000605997.6 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
NDUFB1_chr14_92111123_92126706 | 92120607 | C | CCCAAAGT others(277): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 442 | 0.0023 | 284 | c.-6+ others(299): Show |
NDUFB1 | ENSG00000183648.11 | transcript | ENST00000605997.6 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
NDUFC1_chr4_139284931_139307477 | 139289144 | A | AAAAAGGC others(277): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0058 | 1 | 376 | 0.0027 | 284 | c.*96 others(293): Show |
NDUFC1 | ENSG00000109390.13 | transcript | ENST00000394223.2 | protein_coding | 786 | chr4 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241820103 | G | GGCTCATG others(277): Show |
downstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 319 | 0.0031 | 284 | c.*30 others(295): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2691 | chr2 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79505757 | G | GCTGGAGG others(277): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0019 | a0019c0051 | a0019c0051t0003 | a0019c0051t0003g0149 | 1 | 322 | 0.0031 | 284 | c.278 others(305): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | chr18 | TogoVar | |||||||
NFILZ_chr19_8625633_8686151 | 8656289 | C | CAGCCCAC others(277): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01515.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0002c0002t0002 | a0001c0001t0012g0195 a0002c0002t0002g0197 |
2 | 366 | 0.0055 | 284 | c.-16 others(305): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8656289 | C | CAGCCCAC others(277): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0241 a0001c0001t0003g0269 |
2 | 366 | 0.0055 | 284 | c.-16 others(305): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8656359 | A | AAGCCCAC others(277): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0003 | a0003c0003 | a0003c0003t0083 | a0003c0003t0083g0273 | 1 | 366 | 0.0027 | 284 | c.-16 others(305): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP8_chr19_55942832_55993629 | 55993491 | C | CTCCCCCT others(277): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 | a0023 | a0023c0050 | a0023c0050t0008 | a0023c0050t0008g0046 | 1 | 350 | 0.0029 | 284 | c.*55 others(295): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4863 | chr19 | TogoVar | |||||||
NME4_chr16_392199_405754 | 397707 | T | TGTGGGGG others(277): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 356 | 0.0028 | 284 | c.91+ others(297): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NOL4_chr18_33846100_34229913 | 33953227 | T | TTTGTGTA others(277): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01109.hp2 HG01175.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0054 others(4): Show |
7 | 168 | 0.0417 | 284 | c.142 others(303): Show |
NOL4 | ENSG00000101746.16 | transcript | ENST00000261592.10 | protein_coding | 8/10 | chr18 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5874228 | T | TAAAGAAA others(277): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0010 | a0010c0034 | a0010c0034t0001 | a0010c0034t0001g0071 | 1 | 208 | 0.0048 | 284 | c.323 others(301): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 22/29 | chr1 | TogoVar | |||||||
NR0B1_chrX_30299206_30314390 | 30310831 | T | TTCCTTCC others(277): Show |
upstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 322 | 0.0031 | 284 | c.-14 others(295): Show |
NR0B1 | ENSG00000169297.8 | transcript | ENST00000378970.5 | protein_coding | 1442 | chrX | TogoVar | |||||||
NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATAA others(277): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 | 1 | 308 | 0.0033 | 284 | c.730 others(301): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(277): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 | 1 | 326 | 0.0031 | 284 | c.433 others(301): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
NWD1_chr19_16714847_16822953 | 16738829 | T | TATACATT others(277): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0029 | a0029c0047 | a0029c0047t0001 | a0029c0047t0001g0147 | 1 | 300 | 0.0033 | 284 | c.198 others(301): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NXN_chr17_794310_984776 | 948876 | T | TCCCCCCG others(277): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0164 | 1 | 242 | 0.0041 | 284 | c.360 others(303): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949090 | G | GGCCTCCT others(277): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 242 | 0.0041 | 284 | c.360 others(303): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OLFM1_chr9_135082668_135126180 | 135119058 | A | ATCTTTGG others(277): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00642.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0028others(1): Show | a0001c0001t0006a0001c0001t0010a0001c0001t0013others(3): Show | a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0019 others(21): Show |
27 | 360 | 0.0750 | 284 | c.784 others(299): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OR13D1_chr9_104689518_104700462 | 104696103 | A | AAAAGAAA others(277): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0000 | 1 | 396 | 0.0025 | 284 | c.*64 others(293): Show |
OR13D1 | ENSG00000179055.8 | transcript | ENST00000641530.1 | protein_coding | 642 | chr9 | TogoVar | |||||||
OSTF1_chr9_75083514_75152265 | 75139054 | C | CTTTCTTT others(277): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0024 | 1 | 366 | 0.0027 | 284 | c.487 others(301): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OSTF1_chr9_75083514_75152265 | 75139054 | C | CTTTCTTT others(277): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0030 | 1 | 366 | 0.0027 | 284 | c.487 others(301): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OSTF1_chr9_75083514_75152265 | 75139054 | C | CTTTCTTT others(277): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0026 | 1 | 366 | 0.0027 | 284 | c.487 others(301): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OSTF1_chr9_75083514_75152265 | 75139054 | C | CTTTCTTT others(277): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0020 | 1 | 366 | 0.0027 | 284 | c.487 others(301): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OTOF_chr2_26452203_26483124 | 26476489 | C | CCCTTCCC others(277): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0159 | 1 | 330 | 0.0030 | 284 | c.436 others(299): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000339598.8 | protein_coding | 5/28 | chr2 | TogoVar | |||||||
PALD1_chr10_70473767_70573450 | 70554970 | T | TCCTCCCC others(277): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 308 | 0.0033 | 284 | c.226 others(303): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168793121 | G | GTGTGTGC others(277): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0015 | a0002c0015t0016 | a0002c0015t0016g0035 | 1 | 156 | 0.0064 | 284 | c.196 others(305): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168793121 | G | GTGTGTGC others(277): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 156 | 0.0064 | 284 | c.196 others(305): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34323332 | C | CAAAAAAA others(277): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03516.hp1 HG03579.hp2 |
a0001a0005 | a0001c0020a0005c0016a0005c0017 | a0001c0020t0002a0005c0016t0001a0005c0017t0001 | a0001c0020t0002g0001 a0005c0016t0001g0052 a0005c0017t0001g0053 |
3 | 100 | 0.0300 | 284 | c.283 others(303): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 19/24 | chr10 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CGATAGAT others(277): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 436 | 0.0023 | 284 | c.-26 others(295): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CGATAGAT others(277): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 436 | 0.0023 | 284 | c.-26 others(295): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842868 | A | AGATAGAT others(277): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 436 | 0.0046 | 284 | c.-26 others(295): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2214 | chr20 | TogoVar | |||||||
PCGF3_chr4_700832_775089 | 747436 | G | GGGGTCGC others(277): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0100 | 1 | 366 | 0.0027 | 284 | c.462 others(301): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 136045901 | T | TAGAATTT others(277): Show |
intron_variant | MODIFIER | HG02155.hp2 NA19009.hp1 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0004g0134 |
3 | 142 | 0.0211 | 284 | c.83- others(301): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977844 | C | CGCGCAAC others(277): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 408 | 0.0025 | 284 | c.214 others(303): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PEX10_chr1_2398974_2417564 | 2401350 | T | TCCCTCCC others(277): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 358 | 0.0028 | 284 | c.*44 others(295): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2623 | chr1 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109340652 | C | CTCACCTC others(277): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0006 | a0006c0012 | a0006c0012t0021 | a0006c0012t0021g0074 | 1 | 346 | 0.0029 | 284 | c.200 others(303): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 401785 | G | GGCCCCGC others(277): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0173 | 1 | 216 | 0.0046 | 284 | c.173 others(303): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
PLCL2_chr3_16879955_17095604 | 17063252 | C | CCCTCCCT others(277): Show |
intron_variant | MODIFIER | HG02074.hp1 HG04199.hp1 |
a0001 | a0001c0004a0001c0007 | a0001c0004t0002a0001c0007t0001 | a0001c0004t0002g0173 a0001c0007t0001g0123 |
2 | 250 | 0.0080 | 284 | c.309 others(303): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |