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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(844): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0087 | 1 | 326 | 0.0031 | 851 | c.327 others(868): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411092 | A | ACGGATCC others(844): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0004 | 1 | 322 | 0.0031 | 851 | c.-21 others(862): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1946 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411277 | C | CCGGATCC others(844): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 | a0006 | a0006c0011 | a0006c0011t0005 | a0006c0011t0005g0151 | 1 | 322 | 0.0031 | 851 | c.-23 others(862): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2131 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411301 | G | GCCCCTGC others(844): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0006 | 1 | 322 | 0.0031 | 851 | c.-23 others(862): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2155 | chr19 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591890 | A | ATGATGGT others(844): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0007 | a0007c0050 | a0007c0050t0001 | a0007c0050t0001g0136 | 1 | 344 | 0.0029 | 851 | c.373 others(868): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CTDP1_chr18_79674803_79759503 | 79685061 | G | GGAGTGTG others(844): Show |
intron_variant | MODIFIER | HG02486.hp1 NA20129.hp1 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0010a0001c0008t0001g0198 | 2 | 378 | 0.0053 | 851 | c.314 others(868): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTDP1_chr18_79674803_79759503 | 79691731 | G | GGGGGAGG others(844): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 378 | 0.0027 | 851 | c.315 others(868): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTDP1_chr18_79674803_79759503 | 79691731 | G | GGGGGAGG others(844): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 | 1 | 378 | 0.0027 | 851 | c.315 others(868): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTDP1_chr18_79674803_79759503 | 79691731 | G | GGGGGAGG others(844): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 378 | 0.0027 | 851 | c.315 others(868): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTDP1_chr18_79674803_79759503 | 79691731 | G | GGGGGAGG others(844): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 378 | 0.0027 | 851 | c.315 others(868): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DGCR8_chr22_20075241_20116872 | 20075553 | C | CGAGACCA others(844): Show |
upstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0157 | 1 | 419 | 0.0024 | 851 | c.-51 others(862): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 4687 | chr22 | TogoVar | ||||||
DGCR8_chr22_20075241_20116872 | 20075553 | C | CGAGACCA others(844): Show |
upstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 419 | 0.0024 | 851 | c.-51 others(862): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 4687 | chr22 | TogoVar | ||||||
DGCR8_chr22_20075241_20116872 | 20075553 | C | CGAGACCA others(844): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(89): Show |
a0001a0004a0009others(1): Show | a0001c0001a0004c0006a0009c0008others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0016others(59): Show | 92 | 419 | 0.2196 | 851 | c.-51 others(862): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 4687 | chr22 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6261821 | T | TGTGCTCC others(844): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0146 | 1 | 292 | 0.0034 | 851 | c.571 others(868): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6261821 | T | TGTGCTCC others(844): Show |
intron_variant | MODIFIER | HG02572.hp2 HG04228.hp1 |
a0001a0009 | a0001c0001a0009c0008 | a0001c0001t0004a0009c0008t0003 | a0001c0001t0004g0138a0009c0008t0003g0176 | 2 | 292 | 0.0069 | 851 | c.571 others(868): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6261873 | G | GTGACCCT others(844): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 292 | 0.0034 | 851 | c.571 others(868): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6262095 | G | GTGACCCT others(844): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 | 1 | 292 | 0.0034 | 851 | c.571 others(868): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241441 | C | CCTTCCAG others(844): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0120 | 1 | 183 | 0.0055 | 851 | c.107 others(870): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591890 | A | ATGATGGT others(844): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 397 | 0.0025 | 851 | c.*49 others(862): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 3911 | chr5 | TogoVar | ||||||
GTPBP4_chr10_983434_1024932 | 1010845 | A | ACTCTGGT others(844): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 370 | 0.0027 | 851 | c.134 others(868): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(844): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 350 | 0.0029 | 851 | c.94- others(864): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HBQ1_chr16_175459_186179 | 186102 | G | GGGAACAG others(844): Show |
downstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | 851 | c.*49 others(862): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4924 | chr16 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(844): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 323 | 0.0031 | 851 | c.-36 others(862): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
JUND_chr19_18274694_18286622 | 18284529 | T | TAATAATA others(844): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 NA18960.hp1 NA18965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019a0001c0001t0030 | a0001c0001t0003g0000a0001c0001t0019g0000a0001c0001t0030g0000 | 5 | 408 | 0.0123 | 851 | c.-30 others(862): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2908 | chr19 | TogoVar | ||||||
JUND_chr19_18274694_18286622 | 18284532 | T | TAATAATA others(844): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 HG02004.hp2 HG02056.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0000a0001c0001t0011g0000 | 5 | 408 | 0.0123 | 851 | c.-30 others(862): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2911 | chr19 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(844): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 312 | 0.0032 | 851 | c.-41 others(866): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(844): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0081 | a0002c0081t0001 | a0002c0081t0001g0087 | 1 | 186 | 0.0054 | 851 | c.956 others(868): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(844): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 260 | 0.0039 | 851 | c.125 others(868): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MAML2_chr11_95971598_96348195 | 96089966 | C | CCATTGGT others(844): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03130.hp1 HG03195.hp2 others(2): Show |
a0004 | a0004c0005 | a0004c0005t0004a0004c0005t0007a0004c0005t0048 | a0004c0005t0004g0156a0004c0005t0004g0177a0004c0005t0007g0015others(2): Show | 5 | 230 | 0.0217 | 851 | c.213 others(870): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(844): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 276 | 0.0036 | 851 | c.100 others(870): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(844): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01358.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009 | a0001c0001t0007g0189a0001c0001t0009g0190 | 2 | 330 | 0.0061 | 851 | c.-5+ others(866): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(844): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 330 | 0.0030 | 851 | c.-5+ others(866): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189618 | A | ATATATAT others(844): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0309 | 1 | 330 | 0.0030 | 851 | c.-5+ others(866): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189622 | A | ATATTTGA others(844): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0177 | 1 | 330 | 0.0030 | 851 | c.-5+ others(866): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MTO1_chr6_73456737_73514236 | 73477395 | A | AAAAAAAA others(844): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 396 | 0.0025 | 851 | c.826 others(868): Show |
MTO1 | ENSG00000135297.17 | transcript | ENST00000498286.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(844): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0114 | 1 | 223 | 0.0045 | 851 | c.289 others(868): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
NCAPG2_chr7_158626169_158709804 | 158667532 | C | CTACTGGG others(844): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 378 | 0.0027 | 851 | c.148 others(870): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
NKAIN2_chr6_123798865_124830640 | 124687570 | T | TTCCATAC others(844): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0017 | 1 | 66 | 0.0152 | 851 | c.474 others(870): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 4/6 | chr6 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841445 | C | CCCCCGAC others(844): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 242 | 0.0041 | 851 | c.361 others(870): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGAGGGG others(844): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0279 | 1 | 326 | 0.0031 | 851 | c.162 others(870): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585405 | T | TTGAGGTA others(844): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01255.hp1 |
a0001a0002 | a0001c0027a0002c0002 | a0001c0027t0001a0002c0002t0001 | a0001c0027t0001g0254a0002c0002t0001g0185 | 2 | 279 | 0.0072 | 851 | c.215 others(868): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585405 | T | TTGAGGTA others(844): Show |
intron_variant | MODIFIER | HG00544.hp2 NA19010.hp2 NA19063.hp1 |
a0002a0019 | a0002c0002a0019c0030 | a0002c0002t0001a0019c0030t0001 | a0002c0002t0001g0186a0002c0002t0001g0187a0019c0030t0001g0182 | 3 | 279 | 0.0108 | 851 | c.215 others(868): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585405 | T | TTGAGGTA others(844): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01256.hp1 HG01952.hp1 others(11): Show |
a0002a0021 | a0002c0002a0021c0026 | a0002c0002t0001a0021c0026t0001 | a0002c0002t0001g0001a0002c0002t0001g0098a0002c0002t0001g0099others(9): Show | 14 | 279 | 0.0502 | 851 | c.215 others(868): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(844): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0088a0002c0002t0001g0133 | 2 | 279 | 0.0072 | 851 | c.215 others(868): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(844): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0221 | 1 | 279 | 0.0036 | 851 | c.215 others(868): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(844): Show |
intron_variant | MODIFIER | HG00280.hp1 NA19079.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0215a0002c0002t0001g0218 | 2 | 279 | 0.0072 | 851 | c.215 others(868): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(844): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG02717.hp1 others(1): Show |
a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0058a0002c0011t0001g0065a0002c0011t0001g0165others(1): Show | 4 | 279 | 0.0143 | 851 | c.215 others(868): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(844): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0017 | a0003c0017t0006 | a0003c0017t0006g0016 | 1 | 282 | 0.0036 | 851 | c.299 others(866): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(844): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0161a0001c0001t0002g0011a0001c0001t0008g0097others(11): Show | 14 | 210 | 0.0667 | 851 | c.438 others(870): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(844): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0054 | 1 | 210 | 0.0048 | 851 | c.438 others(870): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |