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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL4A2_chr13_110302284_110518209 | 110385930 | T | TTACAGTG others(929): Show |
intron_variant | MODIFIER | HG02523.hp1 HG02647.hp1 NA19074.hp2 |
a0001 | a0001c0003a0001c0047 | a0001c0003t0003a0001c0003t0044a0001c0047t0002 | a0001c0003t0003g0056a0001c0003t0044g0242a0001c0047t0002g0310 | 3 | 372 | 0.0081 | 936 | c.180 others(955): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385930 | T | TTACAGTG others(929): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0146 | 1 | 372 | 0.0027 | 936 | c.180 others(955): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CSMD1_chr8_2930361_4999914 | 4258514 | G | GGAGGGAG others(929): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0046 | a0001c0046t0073 | a0001c0046t0073g0091 | 1 | 126 | 0.0079 | 936 | c.415 others(957): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232137 | C | CGCCCACC others(929): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 396 | 0.0025 | 936 | c.513 others(953): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DIDO1_chr20_62872743_62931505 | 62875248 | C | CCACCCGC others(929): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0069 | 1 | 320 | 0.0031 | 936 | c.*39 others(947): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2494 | chr20 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400013 | T | TCACCATC others(929): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0191 | 1 | 256 | 0.0039 | 936 | c.323 others(953): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400097 | C | CCACCACC others(929): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0038 | a0038c0068 | a0038c0068t0003 | a0038c0068t0003g0077 | 1 | 256 | 0.0039 | 936 | c.323 others(953): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400097 | C | CCACCACC others(929): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0009 | a0009c0060 | a0009c0060t0003 | a0009c0060t0003g0241 | 1 | 256 | 0.0039 | 936 | c.323 others(953): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ENTPD2_chr9_137043107_137059061 | 137050064 | T | TCACGACA others(929): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0129 | 1 | 400 | 0.0025 | 936 | c.103 others(951): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
ENTPD2_chr9_137043107_137059061 | 137050237 | T | TCCCTACC others(929): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01346.hp1 HG01433.hp1 others(4): Show |
a0001a0002 | a0001c0003a0002c0009 | a0001c0003t0001a0002c0009t0001 | a0001c0003t0001g0018a0001c0003t0001g0060a0002c0009t0001g0043 | 7 | 400 | 0.0175 | 936 | c.102 others(951): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
ENTPD2_chr9_137043107_137059061 | 137050237 | T | TCCCTACC others(929): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02818.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 3 | 400 | 0.0075 | 936 | c.102 others(951): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
ENTPD2_chr9_137043107_137059061 | 137050237 | T | TCCCTACC others(929): Show |
intron_variant | MODIFIER | HG01515.hp1 HG02818.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0080a0001c0003t0003g0079 | 2 | 400 | 0.0050 | 936 | c.102 others(951): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
ENTPD2_chr9_137043107_137059061 | 137050237 | T | TCCCTACC others(929): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01168.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0081a0001c0003t0001g0007 | 9 | 400 | 0.0225 | 936 | c.102 others(951): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
ENTPD2_chr9_137043107_137059061 | 137050237 | T | TCCCTACC others(929): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01515.hp2 others(22): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0038a0001c0003t0001g0016others(3): Show | 25 | 400 | 0.0625 | 936 | c.102 others(951): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
ENTPD2_chr9_137043107_137059061 | 137050237 | T | TCCCTACC others(929): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0068 | 1 | 400 | 0.0025 | 936 | c.102 others(951): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
ENTPD2_chr9_137043107_137059061 | 137050237 | T | TCCCTACC others(929): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(25): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0058a0001c0003t0001g0015others(3): Show | 28 | 400 | 0.0700 | 936 | c.102 others(951): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
ENTPD2_chr9_137043107_137059061 | 137050237 | T | TCCCTACC others(929): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02083.hp1 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 3 | 400 | 0.0075 | 936 | c.102 others(951): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(929): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0387 | 1 | 418 | 0.0024 | 936 | c.119 others(955): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185033 | C | CCCCTTCT others(929): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0083 | a0083c0041 | a0083c0041t0001 | a0083c0041t0001g0033 | 1 | 174 | 0.0058 | 936 | c.193 others(955): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
FMN2_chr1_240086883_240480187 | 240185061 | T | TCCCCCTT others(929): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0072 | a0072c0056 | a0072c0056t0001 | a0072c0056t0001g0144 | 1 | 174 | 0.0058 | 936 | c.193 others(955): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(929): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0210 | 1 | 314 | 0.0032 | 936 | c.310 others(951): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
GTPBP4_chr10_983434_1024932 | 1010845 | A | ACTCTGGT others(929): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 2 | 370 | 0.0054 | 936 | c.134 others(953): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399217 | C | CCACCACC others(929): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02976.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0069a0001c0001t0003g0071a0001c0001t0003g0286others(1): Show | 4 | 314 | 0.0127 | 936 | c.-25 others(953): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399442 | T | TCACCACC others(929): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 314 | 0.0032 | 936 | c.-25 others(953): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ICA1_chr7_8108184_8267167 | 8152796 | T | TCCACCAC others(929): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 274 | 0.0037 | 936 | c.804 others(953): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406423 | T | TTGTCACT others(929): Show |
3_prime_UTR_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0131 | a0001c0001t0131g0185 | 1 | 276 | 0.0036 | 936 | c.*41 others(945): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 410 | chr2 | TogoVar | |||||
KIF25_chr6_167992671_168050091 | 167997235 | G | GGTCGGGG others(929): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0009 | a0009c0012 | a0009c0012t0010 | a0009c0012t0010g0258 | 1 | 375 | 0.0027 | 936 | c.-22 others(947): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 435 | chr6 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(929): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0033 | a0001c0002t0033g0031 | 1 | 114 | 0.0088 | 936 | c.56- others(953): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(929): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0003 | 1 | 114 | 0.0088 | 936 | c.56- others(953): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
L3MBTL4_chr18_5949717_6419911 | 6273141 | T | TACAGAAC others(929): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0087 | 1 | 94 | 0.0106 | 936 | c.128 others(953): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 4/18 | chr18 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(929): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0038 | 1 | 186 | 0.0054 | 936 | c.956 others(953): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
LRCH3_chr3_197786254_197893436 | 197877547 | C | CTCACCGC others(929): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0013 | 1 | 292 | 0.0034 | 936 | c.220 others(955): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(929): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0265 | 1 | 278 | 0.0036 | 936 | c.115 others(953): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(929): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0009 | a0009c0046 | a0009c0046t0010 | a0009c0046t0010g0223 | 1 | 278 | 0.0036 | 936 | c.115 others(953): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(929): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03540.hp2 |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0100a0003c0004t0002g0101 | 2 | 280 | 0.0071 | 936 | c.641 others(951): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
NCAPG2_chr7_158626169_158709804 | 158667493 | G | GCCTTACC others(929): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 378 | 0.0027 | 936 | c.148 others(955): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050064 | T | TCACGACA others(929): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 402 | 0.0025 | 936 | c.-40 others(947): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3888 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050200 | G | GTCCCTAC others(929): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 402 | 0.0025 | 936 | c.-42 others(947): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4024 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050237 | T | TCCCTACC others(929): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG01346.hp1 HG01361.hp1 others(5): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0007c0010t0001 | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0070others(1): Show | 8 | 402 | 0.0199 | 936 | c.-42 others(947): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4061 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050237 | T | TCCCTACC others(929): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 HG02818.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0012 | 3 | 402 | 0.0075 | 936 | c.-42 others(947): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4061 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050237 | T | TCCCTACC others(929): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 402 | 0.0025 | 936 | c.-42 others(947): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4061 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050237 | T | TCCCTACC others(929): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG01168.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0003a0001c0001t0001g0019a0002c0004t0001g0072 | 9 | 402 | 0.0224 | 936 | c.-42 others(947): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4061 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050237 | T | TCCCTACC others(929): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG01884.hp2 others(18): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0009others(4): Show | 21 | 402 | 0.0522 | 936 | c.-42 others(947): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4061 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050237 | T | TCCCTACC others(929): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | 936 | c.-42 others(947): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4061 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050237 | T | TCCCTACC others(929): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(23): Show |
a0001a0006 | a0001c0001a0001c0012a0001c0018others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0012t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0009others(6): Show | 26 | 402 | 0.0647 | 936 | c.-42 others(947): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4061 | chr9 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050237 | T | TCCCTACC others(929): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0002g0002 | 2 | 402 | 0.0050 | 936 | c.-42 others(947): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4061 | chr9 | TogoVar | ||||||
ORC5_chr7_104121341_104213013 | 104124116 | A | AGACAGTA others(929): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 366 | 0.0027 | 936 | c.*27 others(947): Show |
ORC5 | ENSG00000164815.11 | transcript | ENST00000297431.9 | protein_coding | 2224 | chr7 | TogoVar | ||||||
ORC5_chr7_104121341_104213013 | 104124116 | A | AGACAGTA others(929): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 366 | 0.0027 | 936 | c.*27 others(947): Show |
ORC5 | ENSG00000164815.11 | transcript | ENST00000297431.9 | protein_coding | 2224 | chr7 | TogoVar | ||||||
ORC5_chr7_104121341_104213013 | 104124116 | A | AGACAGTA others(929): Show |
downstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0258 | 1 | 366 | 0.0027 | 936 | c.*27 others(947): Show |
ORC5 | ENSG00000164815.11 | transcript | ENST00000297431.9 | protein_coding | 2224 | chr7 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88729881 | G | GCCCCATC others(929): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02965.hp2 |
a0021 | a0021c0069a0021c0133 | a0021c0069t0001a0021c0133t0001 | a0021c0069t0001g0114a0021c0133t0001g0160 | 2 | 282 | 0.0071 | 936 | c.319 others(955): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 22/50 | chr16 | TogoVar |