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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6068): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0086 | 1 | 280 | 0.0036 | 6075 | c.649 others(6092): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SBF2_chr11_9773668_10299219 | 10020890 | G | GAACAAAA others(6068): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 224 | 0.0045 | 6075 | c.619 others(6092): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 6/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10020890 | G | GAACAAAA others(6068): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 224 | 0.0045 | 6075 | c.619 others(6092): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 6/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10020890 | G | GAACAAAA others(6068): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0109 a0001c0001t0003g0110 |
2 | 224 | 0.0089 | 6075 | c.619 others(6092): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 6/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10020890 | G | GAACAAAA others(6068): Show |
intron_variant | MODIFIER | NA18939.hp2 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0100 a0001c0001t0003g0111 |
2 | 224 | 0.0089 | 6075 | c.619 others(6092): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 6/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10020890 | G | GAACAAAA others(6068): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01255.hp2 HG01496.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0087 a0001c0001t0001g0102 a0001c0001t0001g0103 others(4): Show |
7 | 224 | 0.0313 | 6075 | c.619 others(6092): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 6/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10020890 | G | GAACAAAA others(6068): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 224 | 0.0045 | 6075 | c.619 others(6092): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 6/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10020890 | G | GAACAAAA others(6068): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 224 | 0.0045 | 6075 | c.619 others(6092): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 6/39 | chr11 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70723124 | T | TAAAAACC others(6068): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 310 | 0.0032 | 6075 | c.79- others(6092): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
WDR11_chr10_120846362_120914524 | 120902665 | T | TAAAAAAG others(6068): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0013 | a0001c0013t0009 | a0001c0013t0009g0286 | 1 | 386 | 0.0026 | 6075 | c.275 others(6092): Show |
WDR11 | ENSG00000120008.16 | transcript | ENST00000263461.11 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP69_chr7_90240174_90316063 | 90315095 | C | CAAAAAAC others(6069): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0307 | 1 | 338 | 0.0030 | 6076 | c.*48 others(6087): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 4033 | chr7 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10631054 | A | ACGGAATC others(6069): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0116 | 1 | 320 | 0.0031 | 6076 | c.12- others(6093): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55754539 | T | TAAATATG others(6069): Show |
intron_variant | MODIFIER | HG01069.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0059 a0001c0001t0005g0053 |
2 | 74 | 0.0270 | 6076 | c.256 others(6097): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55754539 | T | TAAATATG others(6069): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0065 | 1 | 74 | 0.0135 | 6076 | c.256 others(6097): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55754539 | T | TAAATATG others(6069): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02922.hp2 NA20752.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0013 | a0001c0001t0001g0061 a0001c0001t0002g0037 a0001c0002t0013g0074 |
3 | 74 | 0.0405 | 6076 | c.256 others(6097): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55754539 | T | TAAATATG others(6069): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 74 | 0.0135 | 6076 | c.256 others(6097): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | |||||||
FAM237B_chr7_90311807_90326304 | 90315095 | C | CAAAAAAC others(6069): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 408 | 0.0025 | 6076 | c.*42 others(6087): Show |
FAM237B | ENSG00000283267.2 | transcript | ENST00000692316.1 | protein_coding | 1711 | chr7 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 323693 | T | TGTGTGTG others(6069): Show |
upstream_gene_variant | MODIFIER | NA18973.hp1 | a0025 | a0025c0033 | a0025c0033t0002 | a0025c0033t0002g0140 | 1 | 155 | 0.0065 | 6076 | c.-49 others(6087): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4898 | chrX | TogoVar | |||||||
MAMDC2_chr9_70038848_70231972 | 70162494 | T | TTGTTTTT others(6069): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0123 | 1 | 340 | 0.0029 | 6076 | c.140 others(6095): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAMDC2_chr9_70038848_70231972 | 70162494 | T | TTGTTTTT others(6069): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0110 | 1 | 340 | 0.0029 | 6076 | c.140 others(6095): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAMDC2_chr9_70038848_70231972 | 70162494 | T | TTGTTTTT others(6069): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0116 | 1 | 340 | 0.0029 | 6076 | c.140 others(6095): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAMDC2_chr9_70038848_70231972 | 70162494 | T | TTGTTTTT others(6069): Show |
intron_variant | MODIFIER | HG01358.hp1 HG03490.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0166 a0002c0002t0003g0196 |
2 | 340 | 0.0059 | 6076 | c.140 others(6095): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAMDC2_chr9_70038848_70231972 | 70162494 | T | TTGTTTTT others(6069): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0124 | 1 | 340 | 0.0029 | 6076 | c.140 others(6095): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151430755 | T | TCCCGAAG others(6069): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0049 | 1 | 280 | 0.0036 | 6076 | c.649 others(6093): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 132812407 | C | CAAAGAAA others(6069): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0041 | 1 | 68 | 0.0147 | 6076 | c.146 others(6097): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 2/7 | chr11 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242148259 | T | TGAAAATT others(6069): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0142 | 1 | 188 | 0.0053 | 6076 | c.736 others(6095): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 273576 | G | GTCAGGGA others(6069): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 133 | 0.0075 | 6076 | c.438 others(6093): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10020890 | G | GAACAAAA others(6069): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 224 | 0.0045 | 6076 | c.619 others(6093): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 6/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10020890 | G | GAACAAAA others(6069): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 224 | 0.0045 | 6076 | c.619 others(6093): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 6/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10020890 | G | GAACAAAA others(6069): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18973.hp2 NA18986.hp1 others(2): Show |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0077 a0001c0001t0003g0076 a0001c0001t0008g0092 others(2): Show |
5 | 224 | 0.0223 | 6076 | c.619 others(6093): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 6/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10020890 | G | GAACAAAA others(6069): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 224 | 0.0045 | 6076 | c.619 others(6093): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 6/39 | chr11 | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10020890 | G | GAACAAAA others(6069): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0007 | a0001c0007t0016 | a0001c0007t0016g0180 | 1 | 224 | 0.0045 | 6076 | c.619 others(6093): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 6/39 | chr11 | TogoVar | |||||||
WDR11_chr10_120846362_120914524 | 120902665 | T | TAAAAAAG others(6069): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0013 | a0001c0013t0009 | a0001c0013t0009g0285 | 1 | 386 | 0.0026 | 6076 | c.275 others(6093): Show |
WDR11 | ENSG00000120008.16 | transcript | ENST00000263461.11 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP69_chr7_90240174_90316063 | 90315095 | C | CAAAAAAC others(6070): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 HG02486.hp2 HG03195.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0304 a0001c0003t0001g0313 a0001c0003t0001g0314 |
3 | 338 | 0.0089 | 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 | 74 | 0.0135 | 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 | 74 | 0.0135 | 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 | 408 | 0.0025 | 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 | 408 | 0.0074 | 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 | 234 | 0.0043 | 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 | a0001c0001t0001g0184 | 1 | 252 | 0.0040 | 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 | a0001c0002t0001g0119 | 1 | 374 | 0.0027 | 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 | 280 | 0.0107 | 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 | 280 | 0.0036 | 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 | 280 | 0.0071 | 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 | 280 | 0.0143 | 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 | 280 | 0.0036 | 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 | 280 | 0.0036 | 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 | a0001c0001t0005g0163 | 1 | 251 | 0.0040 | 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 | 186 | 0.0054 | 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 | a0001c0003t0001g0302 | 1 | 338 | 0.0030 | 6078 | c.*48 others(6089): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 4033 | chr7 | TogoVar |