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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MACF1_chr1_39199695_39492138 | 39234647 | A | ACCGCCCC others(518): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02135.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0032a0002c0003t0002g0044 | 2 | 246 | 0.0081 | 525 | c.171 others(542): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MACF1_chr1_39199695_39492138 | 39234647 | A | ACCGCCCC others(518): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0108 | 1 | 246 | 0.0041 | 525 | c.171 others(542): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MACF1_chr1_39199695_39492138 | 39234647 | A | ACCGCCCC others(518): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00741.hp1 others(8): Show |
a0003a0010a0048others(2): Show | a0003c0002a0010c0016a0048c0065others(2): Show | a0003c0002t0001a0003c0002t0002a0010c0016t0004others(3): Show | a0003c0002t0001g0121a0003c0002t0001g0122a0003c0002t0001g0138others(8): Show | 11 | 246 | 0.0447 | 525 | c.171 others(542): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MACF1_chr1_39199695_39492138 | 39234647 | A | ACCGCCCC others(518): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02155.hp2 HG03195.hp2 others(1): Show |
a0002a0029 | a0002c0003a0029c0061 | a0002c0003t0002a0029c0061t0003 | a0002c0003t0002g0113a0002c0003t0002g0181a0002c0003t0002g0182others(1): Show | 4 | 246 | 0.0163 | 525 | c.171 others(542): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MACF1_chr1_39199695_39492138 | 39234647 | A | ACCGCCCC others(518): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02572.hp2 NA18522.hp2 |
a0015a0037 | a0015c0022a0037c0058 | a0015c0022t0001a0037c0058t0001 | a0015c0022t0001g0005a0015c0022t0001g0007a0037c0058t0001g0245 | 3 | 246 | 0.0122 | 525 | c.171 others(542): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MACF1_chr1_39199695_39492138 | 39234647 | A | ACCGCCCC others(518): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0062 | a0001c0062t0001 | a0001c0062t0001g0006 | 1 | 246 | 0.0041 | 525 | c.171 others(542): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAGEC1_chrX_141898894_141914374 | 141906035 | T | TTGAGTAT others(518): Show |
disruptive_inframe_insertion | MODERATE | HG01109.hp1 HG01123.hp1 |
a0050 | a0050c0043 | a0050c0043t0002 | a0050c0043t0002g0002 | 2 | 359 | 0.0056 | 525 | c.661 others(532): Show |
p.Arg others(538): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 948/4256 | 662/3429 | 221/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEC1_chrX_141898894_141914374 | 141906041 | A | ATTTTCCA others(518): Show |
disruptive_inframe_insertion | MODERATE | NA19079.hp1 | a0142 | a0142c0116 | a0142c0116t0001 | a0142c0116t0001g0001 | 1 | 359 | 0.0028 | 525 | c.661 others(532): Show |
p.Arg others(538): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 948/4256 | 662/3429 | 221/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEC1_chrX_141898894_141914374 | 141906041 | A | ATTTTCCA others(518): Show |
disruptive_inframe_insertion | MODERATE | NA18984.hp1 | a0089 | a0089c0171 | a0089c0171t0001 | a0089c0171t0001g0001 | 1 | 359 | 0.0028 | 525 | c.661 others(532): Show |
p.Arg others(538): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 948/4256 | 662/3429 | 221/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEC1_chrX_141898894_141914374 | 141906056 | C | CCTGAGAG others(518): Show |
disruptive_inframe_insertion | MODERATE | NA18959.hp1 | a0088 | a0088c0172 | a0088c0172t0001 | a0088c0172t0001g0001 | 1 | 359 | 0.0028 | 525 | c.661 others(532): Show |
p.Arg others(538): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 948/4256 | 662/3429 | 221/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MCF2L2_chr3_183173041_183433619 | 183314948 | T | TTGAGACA others(518): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0011 | a0011c0014 | a0011c0014t0002 | a0011c0014t0002g0148 | 1 | 176 | 0.0057 | 525 | c.753 others(542): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 7/29 | chr3 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767619 | G | GGCGTGGA others(518): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 388 | 0.0026 | 525 | c.159 others(542): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767634 | C | CGCGTGGA others(518): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 388 | 0.0026 | 525 | c.159 others(542): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MUC4_chr3_195741771_195816929 | 195777585 | C | CCATACCT others(518): Show |
intron_variant | MODIFIER | NA18974.hp1 NA19066.hp1 |
a0015 | a0015c0023 | a0015c0023t0003 | a0015c0023t0003g0210a0015c0023t0003g0212 | 2 | 249 | 0.0080 | 525 | c.129 others(544): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
MYDGF_chr19_4652545_4675342 | 4663552 | C | CCCACCCC others(518): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 410 | 0.0024 | 525 | c.287 others(542): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(518): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0003 | a0003c0019 | a0003c0019t0003 | a0003c0019t0003g0191 | 1 | 362 | 0.0028 | 525 | c.-75 others(544): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
NLGN4X_chrX_5885042_6233867 | 6161078 | T | TATATAAT others(518): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0038 | 1 | 128 | 0.0078 | 525 | c.-30 others(544): Show |
NLGN4X | ENSG00000146938.16 | transcript | ENST00000381095.8 | protein_coding | 1/5 | chrX | TogoVar | ||||||
NLGN4X_chrX_5885042_6233867 | 6161078 | T | TATATAAT others(518): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 | 1 | 128 | 0.0078 | 525 | c.-30 others(544): Show |
NLGN4X | ENSG00000146938.16 | transcript | ENST00000381095.8 | protein_coding | 1/5 | chrX | TogoVar | ||||||
NMT2_chr10_15100770_15173693 | 15149442 | C | CCACCATC others(518): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 276 | 0.0036 | 525 | c.111 others(542): Show |
NMT2 | ENSG00000152465.18 | transcript | ENST00000378165.9 | protein_coding | 1/11 | chr10 | TogoVar | ||||||
NMT2_chr10_15100770_15173693 | 15149442 | C | CCACCATC others(518): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02622.hp1 HG02647.hp2 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0011a0001c0007t0011 | a0001c0001t0011g0007a0001c0001t0011g0008a0001c0001t0011g0009others(2): Show | 5 | 276 | 0.0181 | 525 | c.111 others(542): Show |
NMT2 | ENSG00000152465.18 | transcript | ENST00000378165.9 | protein_coding | 1/11 | chr10 | TogoVar | ||||||
NMT2_chr10_15100770_15173693 | 15149442 | C | CCACCATC others(518): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03130.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0024a0001c0001t0052others(1): Show | a0001c0001t0009g0097a0001c0001t0024g0074a0001c0001t0052g0067others(1): Show | 4 | 276 | 0.0145 | 525 | c.111 others(542): Show |
NMT2 | ENSG00000152465.18 | transcript | ENST00000378165.9 | protein_coding | 1/11 | chr10 | TogoVar | ||||||
NMT2_chr10_15100770_15173693 | 15149442 | C | CCACCATC others(518): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0110 | 1 | 276 | 0.0036 | 525 | c.111 others(542): Show |
NMT2 | ENSG00000152465.18 | transcript | ENST00000378165.9 | protein_coding | 1/11 | chr10 | TogoVar | ||||||
NRDC_chr1_51784210_51883727 | 51852549 | A | AAACTATA others(518): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03471.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104a0001c0002t0001g0107 | 2 | 244 | 0.0082 | 525 | c.342 others(544): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 1/30 | chr1 | TogoVar | ||||||
NTF3_chr12_5427108_5500299 | 5481483 | G | GCACATAC others(518): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18979.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0042a0002c0003t0001g0043 | 2 | 370 | 0.0054 | 525 | c.19- others(542): Show |
NTF3 | ENSG00000185652.12 | transcript | ENST00000423158.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168793366 | C | CATATATA others(518): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0098 | 1 | 156 | 0.0064 | 525 | c.196 others(546): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDE1C_chr7_31746179_32075407 | 31886826 | T | TTTCAGAA others(518): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 262 | 0.0038 | 525 | c.129 others(542): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(518): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 262 | 0.0038 | 525 | c.129 others(542): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(518): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0249 | 1 | 262 | 0.0038 | 525 | c.129 others(542): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(518): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 262 | 0.0038 | 525 | c.129 others(542): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(518): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0064 | 1 | 262 | 0.0038 | 525 | c.129 others(542): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(518): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 262 | 0.0038 | 525 | c.129 others(542): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 400976 | C | CCCCGCCC others(518): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0150 | 1 | 216 | 0.0046 | 525 | c.173 others(542): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PLEKHG1_chr6_150594885_150848665 | 150776548 | T | TCACACTG others(518): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0026 | a0001c0026t0018 | a0001c0026t0018g0015 | 1 | 272 | 0.0037 | 525 | c.512 others(542): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPFIA2_chr12_81252975_81764350 | 81642703 | T | TGTATCTA others(518): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 168 | 0.0060 | 525 | c.303 others(544): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3351532 | C | CCTCCTCT others(518): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02922.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0072others(6): Show | a0001c0001t0001g0203a0001c0001t0012g0129a0001c0001t0072g0008others(7): Show | 10 | 210 | 0.0476 | 525 | c.439 others(544): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3351532 | C | CCTCCTCT others(518): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01258.hp2 |
a0002 | a0002c0003 | a0002c0003t0006a0002c0003t0051 | a0002c0003t0006g0009a0002c0003t0051g0079 | 2 | 210 | 0.0095 | 525 | c.439 others(544): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2106511 | C | CTTCAGCA others(518): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 286 | 0.0035 | 525 | c.335 others(544): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2106634 | A | AGCCCCTC others(518): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 286 | 0.0035 | 525 | c.335 others(544): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PWWP2B_chr10_132392200_132422859 | 132392560 | A | AATGGTGA others(518): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0127 | 1 | 374 | 0.0027 | 525 | c.-46 others(536): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4639 | chr10 | TogoVar | ||||||
RAP1GAP2_chr17_2791438_3042741 | 2831059 | C | CTCCCCTC others(518): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0065 | 1 | 218 | 0.0046 | 525 | c.80+ others(542): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SART1_chr11_65956734_65985137 | 65971177 | A | AGGTGCTG others(518): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01346.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0015a0001c0002t0003g0247 | 4 | 384 | 0.0104 | 525 | c.157 others(544): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | chr11 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77484808 | G | GTGATTGT others(518): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0151 | 1 | 158 | 0.0063 | 525 | c.859 others(542): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SHOX_chrX_625791_656584 | 626214 | C | CTCTGTAT others(518): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0197 | a0001c0001t0197g0143 | 1 | 220 | 0.0046 | 525 | c.-46 others(536): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4576 | chrX | TogoVar | ||||||
SLC66A2_chr18_79897420_79956653 | 79919512 | A | AGGAACCA others(518): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 352 | 0.0028 | 525 | c.392 others(540): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827490 | C | CTATATTA others(518): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 302 | 0.0033 | 525 | c.12+ others(540): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(518): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0187 | 1 | 251 | 0.0040 | 525 | c.*34 others(534): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | ||||||
STAB2_chr12_103582273_103771719 | 103768604 | G | GGGGAGGG others(518): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0004 | a0004c0040 | a0004c0040t0002 | a0004c0040t0002g0237 | 1 | 256 | 0.0039 | 525 | c.*22 others(536): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 1886 | chr12 | TogoVar | ||||||
STK32B_chr4_5046480_5505989 | 5317118 | A | ATACTATA others(518): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0054 | 1 | 170 | 0.0059 | 525 | c.261 others(544): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
THBS2_chr6_169210785_169258846 | 169242951 | C | CCCACCGC others(518): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18963.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132a0001c0001t0001g0133 | 2 | 396 | 0.0051 | 525 | c.695 others(540): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 4/21 | chr6 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377060 | G | GCCCCCAC others(518): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 HG01928.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0010a0001c0003t0003 | a0001c0001t0010g0232a0001c0003t0003g0127 | 2 | 370 | 0.0054 | 525 | c.-10 others(536): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1035 | chr19 | TogoVar |