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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP69_chr7_90240174_90316063 | 90315095 | C | CAAAAAAC others(6071): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG02027.hp1 others(22): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0019 others(20): Show |
25 | 338 | 0.0740 | 6078 | c.*48 others(6089): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 4033 | chr7 | TogoVar | |||||||
CFAP69_chr7_90240174_90316063 | 90315095 | C | CAAAAAAC others(6071): Show |
downstream_gene_variant | MODIFIER | NA18964.hp2 NA19012.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0300 a0001c0003t0001g0301 |
2 | 338 | 0.0059 | 6078 | c.*48 others(6089): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 4033 | chr7 | TogoVar | |||||||
DMXL2_chr15_51442791_51627771 | 51551608 | T | TAAAAACA others(6071): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 346 | 0.0029 | 6078 | c.568 others(6095): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 6/43 | chr15 | TogoVar | |||||||
DMXL2_chr15_51442791_51627771 | 51551608 | T | TAAAAACA others(6071): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 a0001c0001t0002g0190 |
2 | 346 | 0.0058 | 6078 | c.568 others(6095): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 6/43 | chr15 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55754539 | T | TAAATATG others(6071): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0001 | 1 | 74 | 0.0135 | 6078 | c.256 others(6099): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55754539 | T | TAAATATG others(6071): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 74 | 0.0135 | 6078 | c.256 others(6099): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55754539 | T | TAAATATG others(6071): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 74 | 0.0135 | 6078 | c.256 others(6099): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | |||||||
FAM237B_chr7_90311807_90326304 | 90315095 | C | CAAAAAAC others(6071): Show |
downstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 408 | 0.0025 | 6078 | c.*42 others(6089): Show |
FAM237B | ENSG00000283267.2 | transcript | ENST00000692316.1 | protein_coding | 1711 | chr7 | TogoVar | |||||||
FAM237B_chr7_90311807_90326304 | 90315095 | C | CAAAAAAC others(6071): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG02027.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0004 a0001c0001t0003g0033 a0001c0001t0006g0008 |
27 | 408 | 0.0662 | 6078 | c.*42 others(6089): Show |
FAM237B | ENSG00000283267.2 | transcript | ENST00000692316.1 | protein_coding | 1711 | chr7 | TogoVar | |||||||
FAM237B_chr7_90311807_90326304 | 90315095 | C | CAAAAAAC others(6071): Show |
downstream_gene_variant | MODIFIER | NA18964.hp2 NA19012.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 3 | 408 | 0.0074 | 6078 | c.*42 others(6089): Show |
FAM237B | ENSG00000283267.2 | transcript | ENST00000692316.1 | protein_coding | 1711 | chr7 | TogoVar | |||||||
KLHL3_chr5_137612500_137741089 | 137679085 | A | AGATAGTA others(6071): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 252 | 0.0040 | 6078 | c.527 others(6095): Show |
KLHL3 | ENSG00000146021.15 | transcript | ENST00000309755.9 | protein_coding | 5/14 | chr5 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6071): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01257.hp1 NA19077.hp1 |
a0001a0002 | a0001c0005a0001c0010a0002c0003 | a0001c0005t0005a0001c0010t0005a0002c0003t0041 | a0001c0005t0005g0271 a0001c0010t0005g0060 a0002c0003t0041g0146 |
3 | 280 | 0.0107 | 6078 | c.649 others(6095): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6071): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0227 | 1 | 280 | 0.0036 | 6078 | c.649 others(6095): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6071): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0113 a0002c0003t0005g0114 |
2 | 280 | 0.0071 | 6078 | c.649 others(6095): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6071): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01071.hp2 others(4): Show |
a0001a0003 | a0001c0002a0003c0006 | a0001c0002t0006a0003c0006t0006a0003c0006t0015 | a0001c0002t0006g0164 a0001c0002t0006g0181 a0001c0002t0006g0249 others(4): Show |
7 | 280 | 0.0250 | 6078 | c.649 others(6095): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6071): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0138 | 1 | 280 | 0.0036 | 6078 | c.649 others(6095): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6071): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0217 | 1 | 280 | 0.0036 | 6078 | c.649 others(6095): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6071): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0008 | a0001c0008t0045 | a0001c0008t0045g0255 | 1 | 280 | 0.0036 | 6078 | c.649 others(6095): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6071): Show |
intron_variant | MODIFIER | NA18974.hp1 NA18986.hp2 NA19060.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0002 | a0001c0001t0002g0196 a0001c0001t0002g0224 a0001c0005t0002g0190 |
3 | 280 | 0.0107 | 6078 | c.649 others(6095): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6071): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0182 | 1 | 280 | 0.0036 | 6078 | c.649 others(6095): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6071): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0043 | 1 | 280 | 0.0036 | 6078 | c.649 others(6095): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6071): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0228 | 1 | 280 | 0.0036 | 6078 | c.649 others(6095): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6071): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0091 | 1 | 280 | 0.0036 | 6078 | c.649 others(6095): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6071): Show |
intron_variant | MODIFIER | HG02486.hp1 NA20129.hp1 |
a0001 | a0001c0004a0001c0010 | a0001c0004t0055a0001c0010t0002 | a0001c0004t0055g0003 a0001c0010t0002g0100 |
2 | 280 | 0.0071 | 6078 | c.649 others(6095): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6071): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01255.hp2 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0069 a0002c0003t0004g0145 |
2 | 280 | 0.0071 | 6078 | c.649 others(6095): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6071): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01168.hp1 HG01169.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0004a0001c0001t0008a0001c0001t0040others(5): Show | a0001c0001t0004g0172 a0001c0001t0008g0084 a0001c0001t0008g0246 others(16): Show |
19 | 280 | 0.0679 | 6078 | c.649 others(6095): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6071): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0165 | 1 | 280 | 0.0036 | 6078 | c.649 others(6095): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6071): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0226 | 1 | 280 | 0.0036 | 6078 | c.649 others(6095): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6071): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0015 | a0001c0015t0056 | a0001c0015t0056g0007 | 1 | 280 | 0.0036 | 6078 | c.649 others(6095): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130646142 | A | ACCACCGT others(6071): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0079 | 1 | 180 | 0.0056 | 6078 | c.-35 others(6099): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
CFAP69_chr7_90240174_90316063 | 90315095 | C | CAAAAAAC others(6072): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG01978.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0299 a0001c0003t0001g0305 |
2 | 338 | 0.0059 | 6079 | c.*48 others(6090): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 4033 | chr7 | TogoVar | |||||||
DAPL1_chr2_158790317_158820990 | 158796150 | G | GTACAGGC others(6072): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0205 | 1 | 360 | 0.0028 | 6079 | c.58+ others(6092): Show |
DAPL1 | ENSG00000163331.12 | transcript | ENST00000309950.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51551608 | T | TAAAAACA others(6072): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0173 others(6): Show |
9 | 346 | 0.0260 | 6079 | c.568 others(6096): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 6/43 | chr15 | TogoVar | |||||||
DMXL2_chr15_51442791_51627771 | 51551608 | T | TAAAAACA others(6072): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 346 | 0.0029 | 6079 | c.568 others(6096): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 6/43 | chr15 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55754539 | T | TAAATATG others(6072): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 74 | 0.0135 | 6079 | c.256 others(6100): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55754539 | T | TAAATATG others(6072): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 74 | 0.0135 | 6079 | c.256 others(6100): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | |||||||
FAM237B_chr7_90311807_90326304 | 90315095 | C | CAAAAAAC others(6072): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 NA18967.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 2 | 408 | 0.0049 | 6079 | c.*42 others(6090): Show |
FAM237B | ENSG00000283267.2 | transcript | ENST00000692316.1 | protein_coding | 1711 | chr7 | TogoVar | |||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6072): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 234 | 0.0043 | 6079 | c.829 others(6098): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6072): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 234 | 0.0043 | 6079 | c.829 others(6098): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6072): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 234 | 0.0043 | 6079 | c.829 others(6098): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154263429 | T | TAGGGAGT others(6072): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 264 | 0.0038 | 6079 | c.36+ others(6094): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 3/11 | chr6 | TogoVar | |||||||
KLHL3_chr5_137612500_137741089 | 137679085 | A | AGATAGTA others(6072): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0167 | 1 | 252 | 0.0040 | 6079 | c.527 others(6096): Show |
KLHL3 | ENSG00000146021.15 | transcript | ENST00000309755.9 | protein_coding | 5/14 | chr5 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6072): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0002 | a0001c0002t0049 | a0001c0002t0049g0123 | 1 | 280 | 0.0036 | 6079 | c.649 others(6096): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6072): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 280 | 0.0036 | 6079 | c.649 others(6096): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6072): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0070 | 1 | 280 | 0.0036 | 6079 | c.649 others(6096): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6072): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0003 | a0003c0006 | a0003c0006t0015 | a0003c0006t0015g0101 | 1 | 280 | 0.0036 | 6079 | c.649 others(6096): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6072): Show |
intron_variant | MODIFIER | HG03098.hp1 NA21309.hp1 |
a0001 | a0001c0013a0001c0023 | a0001c0013t0002a0001c0023t0002 | a0001c0013t0002g0258 a0001c0023t0002g0027 |
2 | 280 | 0.0071 | 6079 | c.649 others(6096): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6072): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0015 | a0001c0015t0009 | a0001c0015t0009g0245 | 1 | 280 | 0.0036 | 6079 | c.649 others(6096): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6072): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0018 | 1 | 280 | 0.0036 | 6079 | c.649 others(6096): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6072): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01361.hp2 HG02083.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0002t0002a0001c0004t0002others(4): Show | a0001c0001t0002g0230 a0001c0001t0002g0241 a0001c0001t0002g0243 others(9): Show |
12 | 280 | 0.0429 | 6079 | c.649 others(6096): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |