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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1843): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0017 | 1 | 126 | 0.0079 | 1850 | c.45- others(1865): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1843): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 1 | 126 | 0.0079 | 1850 | c.45- others(1865): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SLC44A5_chr1_75197129_75616114 | 75280137 | T | TATATATA others(1843): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0074 | 1 | 46 | 0.0217 | 1850 | c.176 others(1867): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(1843): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012 | 1 | 35 | 0.0286 | 1850 | c.-28 others(1869): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1173306 | A | ACCCCCCA others(1844): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0319 | 1 | 329 | 0.0030 | 1851 | c.61+ others(1866): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44181908 | T | TCACACAC others(1844): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 421 | 0.0024 | 1851 | c.193 others(1868): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1844): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0111 | 1 | 3 | 0.3333 | 1851 | c.219 others(1870): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
FAM186A_chr12_50322309_50401609 | 50358428 | T | TAAAAATT others(1844): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 329 | 0.0030 | 1851 | c.584 others(1868): Show |
FAM186A | ENSG00000185958.10 | transcript | ENST00000327337.6 | protein_coding | 3/7 | chr12 | TogoVar | |||||||
FAM186A_chr12_50322309_50401609 | 50358428 | T | TAAAAATT others(1844): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 329 | 0.0030 | 1851 | c.584 others(1868): Show |
FAM186A | ENSG00000185958.10 | transcript | ENST00000327337.6 | protein_coding | 3/7 | chr12 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(1844): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01074.hp1 HG01952.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0053 a0001c0001t0003g0217 |
3 | 6 | 0.5000 | 1851 | c.972 others(1864): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711801 | C | CATCATCA others(1844): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 285 | 0.0035 | 1851 | c.635 others(1870): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322791 | A | ACGGAATG others(1844): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 | 1 | 312 | 0.0032 | 1851 | c.-22 others(1862): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2178 | chr21 | TogoVar | |||||||
IPP_chr1_45693711_45755653 | 45710646 | A | AAAAGGAT others(1844): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 a0001c0001t0003g0013 |
2 | 52 | 0.0385 | 1851 | c.153 others(1870): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
NFIA_chr1_61077561_61467788 | 61393248 | T | TCTCTCTC others(1844): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0080 | 1 | 150 | 0.0067 | 1851 | c.107 others(1870): Show |
NFIA | ENSG00000162599.18 | transcript | ENST00000403491.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1844): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 5 | 0.2000 | 1851 | c.189 others(1870): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 266799 | C | CGTGCAGT others(1844): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0271 | 1 | 331 | 0.0030 | 1851 | c.-49 others(1862): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4846 | chr5 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1844): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0005 | 1 | 8 | 0.1250 | 1851 | c.-20 others(1862): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1844): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 HG02976.hp2 HG03017.hp2 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0005 | 4 | 11 | 0.3636 | 1851 | c.-20 others(1862): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1844): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 1851 | c.-20 others(1862): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1844): Show |
upstream_gene_variant | MODIFIER | HG02735.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0005 | 1 | 8 | 0.1250 | 1851 | c.-20 others(1862): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1844): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0005 | 1 | 8 | 0.1250 | 1851 | c.-20 others(1862): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RAB3B_chr1_51902956_51995700 | 51906884 | A | AGGAGGGA others(1844): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0005 | 1 | 59 | 0.0169 | 1851 | c.*13 others(1864): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1071 | chr1 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1844): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0322 | 1 | 126 | 0.0079 | 1851 | c.45- others(1866): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339728 | A | ATCCCCCC others(1844): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0025 | a0002c0025t0067 | a0002c0025t0067g0257 | 1 | 247 | 0.0040 | 1851 | c.89- others(1864): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1049823 | C | CCCCCACC others(1845): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 27 | 0.0370 | 1852 | c.255 others(1869): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1845): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0064 | 1 | 13 | 0.0769 | 1852 | c.109 others(1871): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706333 | G | GATAGATA others(1845): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0004 | a0004c0010 | a0004c0010t0003 | a0004c0010t0003g0024 | 1 | 259 | 0.0039 | 1852 | c.228 others(1869): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706333 | G | GATAGATA others(1845): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 | a0004 | a0004c0011 | a0004c0011t0003 | a0004c0011t0003g0186 | 1 | 324 | 0.0031 | 1852 | c.-50 others(1863): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4867 | chr4 | TogoVar | |||||||
GALM_chr2_38661114_38739765 | 38711831 | C | CATCCCTA others(1845): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 251 | 0.0040 | 1852 | c.635 others(1871): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711831 | C | CATCCCTA others(1845): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG01192.hp2 others(47): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0007others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0122 a0001c0001t0001g0147 others(47): Show |
50 | 300 | 0.1667 | 1852 | c.635 others(1871): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IPP_chr1_45693711_45755653 | 45710646 | A | AAAAAGGA others(1845): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 51 | 0.0196 | 1852 | c.153 others(1871): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(1845): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0094 | 1 | 95 | 0.0105 | 1852 | c.*11 others(1873): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45909798 | C | CCACCCAC others(1845): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0289 | 1 | 285 | 0.0035 | 1852 | c.471 others(1867): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1845): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 126 | 0.0079 | 1852 | c.45- others(1867): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273782 | C | CACGACCG others(1845): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0335 | 1 | 244 | 0.0041 | 1852 | c.228 others(1871): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161948 | C | CACCCCTG others(1845): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 12 | 0.0833 | 1852 | c.*22 others(1863): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 1980 | chr11 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870292 | A | ACACACAC others(1845): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 319 | 0.0031 | 1852 | c.*35 others(1871): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1432080 | T | TCAGCAGT others(1846): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0002 | a0002c0002t0049 | a0002c0002t0049g0116 | 1 | 291 | 0.0034 | 1853 | c.92- others(1868): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181908 | T | TCACACAC others(1846): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 421 | 0.0024 | 1853 | c.193 others(1870): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54133748 | T | TTCTCTCC others(1846): Show |
upstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 108 | 0.0093 | 1853 | c.-42 others(1864): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 4013 | chr19 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(1846): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 HG03453.hp2 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0003 | 2 | 145 | 0.0138 | 1853 | c.*17 others(1864): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126947949 | G | GTGGTGGT others(1846): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0004 | a0004c0013 | a0004c0013t0004 | a0004c0013t0004g0125 | 1 | 126 | 0.0079 | 1853 | c.47- others(1870): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(1846): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 HG03453.hp1 |
a0001a0017 | a0001c0001a0017c0016 | a0001c0001t0001a0017c0016t0001 | a0001c0001t0001g0047 a0017c0016t0001g0008 |
2 | 173 | 0.0116 | 1853 | c.*22 others(1864): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(1846): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00735.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 a0001c0001t0003g0050 a0001c0001t0003g0231 others(2): Show |
9 | 12 | 0.7500 | 1853 | c.972 others(1866): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711831 | C | CATCCCTA others(1846): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 251 | 0.0040 | 1853 | c.635 others(1872): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173044 | C | CCTCTCCT others(1846): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0005 | a0005c0012 | a0005c0012t0007 | a0005c0012t0007g0045 | 1 | 117 | 0.0085 | 1853 | c.*11 others(1874): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(1846): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0019 | a0019c0114 | a0019c0114t0001 | a0019c0114t0001g0080 | 1 | 31 | 0.0323 | 1853 | c.956 others(1870): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1846): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0010 | a0010c0019 | a0010c0019t0001 | a0010c0019t0001g0278 | 1 | 12 | 0.0833 | 1853 | c.228 others(1870): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1846): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0011 | a0011c0028 | a0011c0028t0001 | a0011c0028t0001g0324 | 1 | 12 | 0.0833 | 1853 | c.228 others(1870): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1846): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0118 | 1 | 5 | 0.2000 | 1853 | c.189 others(1872): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |