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(6070): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 HG02486.hp2 HG03195.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0301 a0001c0003t0001g0310 a0001c0003t0001g0311 |
3 | 304 | 0.0099 | 6077 | c.*48 others(6088): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 4033 | chr7 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55754539 | T | TAAATATG others(6070): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 52 | 0.0192 | 6077 | c.256 others(6098): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55754539 | T | TAAATATG others(6070): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 52 | 0.0192 | 6077 | c.256 others(6098): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | |||||||
FAM237B_chr7_90311807_90326304 | 90315095 | C | CAAAAAAC others(6070): Show |
downstream_gene_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 369 | 0.0027 | 6077 | c.*42 others(6088): Show |
FAM237B | ENSG00000283267.2 | transcript | ENST00000692316.1 | protein_coding | 1711 | chr7 | TogoVar | |||||||
FAM237B_chr7_90311807_90326304 | 90315095 | C | CAAAAAAC others(6070): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 HG02486.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 3 | 371 | 0.0081 | 6077 | c.*42 others(6088): Show |
FAM237B | ENSG00000283267.2 | transcript | ENST00000692316.1 | protein_coding | 1711 | chr7 | TogoVar | |||||||
GPHN_chr14_66503147_67186803 | 66953146 | A | ACACCTTT others(6070): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 108 | 0.0093 | 6077 | c.829 others(6096): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KLHL3_chr5_137612500_137741089 | 137679085 | A | AGATAGTA others(6070): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 197 | 0.0051 | 6077 | c.527 others(6094): Show |
KLHL3 | ENSG00000146021.15 | transcript | ENST00000309755.9 | protein_coding | 5/14 | chr5 | TogoVar | |||||||
MAP3K9_chr14_70717526_70814513 | 70731059 | T | TAAGAATA others(6070): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0118 | 1 | 318 | 0.0031 | 6077 | c.283 others(6094): Show |
MAP3K9 | ENSG00000006432.16 | transcript | ENST00000554752.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6070): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG03491.hp1 |
a0001a0003 | a0001c0007a0003c0006 | a0001c0007t0015a0003c0006t0006 | a0001c0007t0015g0041 a0003c0006t0006g0153 a0003c0006t0006g0155 |
3 | 128 | 0.0234 | 6077 | c.649 others(6094): 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(6070): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0112 | 1 | 126 | 0.0079 | 6077 | c.649 others(6094): 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(6070): Show |
intron_variant | MODIFIER | HG02148.hp2 NA18939.hp1 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0132 a0002c0003t0004g0199 |
2 | 127 | 0.0157 | 6077 | c.649 others(6094): 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(6070): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01516.hp1 HG01517.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0014a0002c0003t0004a0002c0003t0046 | a0001c0002t0014g0075 a0001c0002t0014g0076 a0002c0003t0004g0248 others(1): Show |
4 | 129 | 0.0310 | 6077 | c.649 others(6094): 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(6070): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0071 | 1 | 126 | 0.0079 | 6077 | c.649 others(6094): 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(6070): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0229 | 1 | 126 | 0.0079 | 6077 | c.649 others(6094): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCCCGT others(6070): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0156 | 1 | 8 | 0.1250 | 6077 | c.-45 others(6086): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
UBE3D_chr6_82887390_83070841 | 83035564 | T | TAAGAAGT others(6070): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021 | 1 | 178 | 0.0056 | 6077 | c.667 others(6094): Show |
UBE3D | ENSG00000118420.17 | transcript | ENST00000369747.8 | protein_coding | 5/9 | chr6 | TogoVar | |||||||
CFAP69_chr7_90240174_90316063 | 90315095 | C | CAAAAAAC others(6071): Show |
downstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0299 | 1 | 302 | 0.0033 | 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 | HG00438.hp2 HG00673.hp1 HG02027.hp1 others(22): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0022 others(20): Show |
25 | 326 | 0.0767 | 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 | a0001c0003t0001g0297 a0001c0003t0001g0298 |
2 | 303 | 0.0066 | 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 | a0001c0001t0002g0160 | 1 | 332 | 0.0030 | 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 | a0001c0001t0002g0166 a0001c0001t0002g0184 |
2 | 333 | 0.0060 | 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 | 52 | 0.0192 | 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 | 52 | 0.0192 | 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 | 369 | 0.0027 | 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 a0001c0001t0003g0034 a0001c0001t0006g0008 |
27 | 395 | 0.0684 | 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 | 371 | 0.0081 | 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 | a0001c0001t0001g0165 | 1 | 197 | 0.0051 | 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 | 128 | 0.0234 | 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 | 126 | 0.0079 | 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 | 127 | 0.0157 | 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 | 132 | 0.0530 | 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 | 126 | 0.0079 | 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 | 126 | 0.0079 | 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 | 126 | 0.0079 | 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 a0001c0001t0002g0222 a0001c0005t0002g0190 |
3 | 128 | 0.0234 | 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 | 126 | 0.0079 | 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 | 126 | 0.0079 | 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 | 126 | 0.0079 | 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 | 126 | 0.0079 | 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 | 127 | 0.0157 | 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 | 127 | 0.0157 | 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 | 144 | 0.1319 | 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 | 126 | 0.0079 | 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 | a0002c0003t0004g0224 | 1 | 126 | 0.0079 | 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 | 126 | 0.0079 | 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 | 147 | 0.0068 | 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 | a0001c0003t0001g0296 a0001c0003t0001g0302 |
2 | 303 | 0.0066 | 6079 | c.*48 others(6090): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 4033 | chr7 | 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 | a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0171 others(6): Show |
9 | 340 | 0.0265 | 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 | a0001c0001t0002g0170 | 1 | 332 | 0.0030 | 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 | a0001c0001t0001g0061 | 1 | 52 | 0.0192 | 6079 | c.256 others(6100): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar |