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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EVC2_chr4_5557439_5713559 | 5706405 | G | GATAGATA others(1699): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0156 | 1 | 255 | 0.0039 | 1706 | c.228 others(1723): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706405 | G | GATAGATA others(1699): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0020 | a0020c0084 | a0020c0084t0036 | a0020c0084t0036g0093 | 1 | 332 | 0.0030 | 1706 | c.-49 others(1717): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4795 | chr4 | TogoVar | |||||||
GFPT2_chr5_180295698_180358336 | 180300019 | C | CCGTGATA others(1699): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0291 | 1 | 388 | 0.0026 | 1706 | c.*15 others(1717): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 678 | chr5 | TogoVar | |||||||
LSM12_chr17_44029328_44071671 | 44045936 | C | CTTTTTTT others(1699): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 15 | 0.0667 | 1706 | c.259 others(1723): Show |
LSM12 | ENSG00000161654.10 | transcript | ENST00000293406.8 | protein_coding | 2/4 | chr17 | TogoVar | |||||||
LSM12_chr17_44029328_44071671 | 44046709 | C | CAAAAAAA others(1699): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 286 | 0.0035 | 1706 | c.259 others(1723): Show |
LSM12 | ENSG00000161654.10 | transcript | ENST00000293406.8 | protein_coding | 2/4 | chr17 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50397617 | A | AGGGGGGC others(1699): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0195 | 1 | 216 | 0.0046 | 1706 | c.227 others(1723): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495153 | T | TATAGTAT others(1699): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0113 | 1 | 217 | 0.0046 | 1706 | c.-93 others(1723): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ZNF821_chr16_71854685_71889182 | 71866143 | G | GAGAAATA others(1699): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 374 | 0.0027 | 1706 | c.167 others(1723): Show |
ZNF821 | ENSG00000102984.15 | transcript | ENST00000425432.6 | protein_coding | 4/7 | chr16 | TogoVar | |||||||
CDHR2_chr5_176544342_176600824 | 176591689 | A | ATGATGGT others(1700): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0158 | 1 | 225 | 0.0044 | 1707 | c.373 others(1724): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1700): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 | 1 | 3 | 0.3333 | 1707 | c.219 others(1726): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1700): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01255.hp2 others(4): Show |
a0001a0002a0005 | a0001c0001a0001c0010a0002c0003others(3): Show | a0001c0001t0001a0001c0010t0004a0002c0003t0013others(4): Show | a0001c0001t0001g0102 a0001c0010t0004g0005 a0002c0003t0013g0010 others(4): Show |
7 | 9 | 0.7778 | 1707 | c.219 others(1726): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1700): Show |
intron_variant | MODIFIER | HG01261.hp1 NA18983.hp1 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0043a0002c0004t0003 | a0001c0002t0043g0113 a0002c0004t0003g0052 |
2 | 4 | 0.5000 | 1707 | c.219 others(1726): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1700): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0003 | a0003c0014 | a0003c0014t0002 | a0003c0014t0002g0103 | 1 | 3 | 0.3333 | 1707 | c.219 others(1726): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591689 | A | ATGATGGT others(1700): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 | 1 | 253 | 0.0040 | 1707 | c.*51 others(1718): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4112 | chr5 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322216 | G | GTATGGAA others(1700): Show |
upstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 242 | 0.0041 | 1707 | c.-28 others(1718): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2753 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323120 | G | GAATATAT others(1700): Show |
upstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 297 | 0.0034 | 1707 | c.-19 others(1718): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1849 | chr21 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086103 | G | GTATATTA others(1700): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0004 | a0001c0004t0028 | a0001c0004t0028g0131 | 1 | 192 | 0.0052 | 1707 | c.292 others(1726): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCCCTCCC others(1700): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0017 | a0001c0017t0003 | a0001c0017t0003g0011 | 1 | 17 | 0.0588 | 1707 | c.*11 others(1728): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCTC others(1700): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0010 | a0002c0010t0009 | a0002c0010t0009g0087 | 1 | 17 | 0.0588 | 1707 | c.*11 others(1728): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114044390 | C | CCGCCCCG others(1700): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 64 | 0.0156 | 1707 | c.278 others(1724): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1700): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 126 | 0.0079 | 1707 | c.45- others(1722): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121186127 | T | TAATGAAT others(1700): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0271 | 1 | 179 | 0.0056 | 1707 | c.600 others(1726): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(1700): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 a0001c0001t0002g0324 |
2 | 36 | 0.0556 | 1707 | c.*35 others(1726): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948575 | G | GGGGCGTG others(1700): Show |
intron_variant | MODIFIER | NA18954.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 339 | 0.0059 | 1707 | c.114 others(1724): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 320273 | G | GGACCGAA others(1701): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0012 | a0012c0104 | a0012c0104t0003 | a0012c0104t0003g0230 | 1 | 166 | 0.0060 | 1708 | c.827 others(1725): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 320273 | G | GGACCGAA others(1701): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01978.hp1 |
a0002a0033 | a0002c0080a0033c0075 | a0002c0080t0002a0033c0075t0002 | a0002c0080t0002g0053 a0033c0075t0002g0202 |
2 | 167 | 0.0120 | 1708 | c.827 others(1725): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 320310 | T | TCAGAGAT others(1701): Show |
intron_variant | MODIFIER | NA18939.hp2 NA19010.hp1 |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0001a0003c0004t0001 | a0001c0003t0001g0117 a0003c0004t0001g0160 |
2 | 254 | 0.0079 | 1708 | c.827 others(1725): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 320615 | T | TCAGAGAT others(1701): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0008 | a0008c0118 | a0008c0118t0001 | a0008c0118t0001g0036 | 1 | 233 | 0.0043 | 1708 | c.827 others(1725): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716506 | G | GTGGTGTC others(1701): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0062 | 1 | 132 | 0.0076 | 1708 | c.86- others(1719): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377541 | A | ACCCAGAC others(1701): Show |
intron_variant | MODIFIER | HG00558.hp1 HG03492.hp2 NA18747.hp2 others(1): Show |
a0001a0007 | a0001c0002a0001c0017a0007c0012 | a0001c0002t0001a0001c0002t0004a0001c0017t0001others(1): Show | a0001c0002t0001g0057 a0001c0002t0004g0070 a0001c0017t0001g0079 others(1): Show |
4 | 252 | 0.0159 | 1708 | c.228 others(1729): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(1701): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059 | 1 | 152 | 0.0066 | 1708 | c.228 others(1729): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM240C_chr2_241888988_241905464 | 241896712 | T | TGGGGGTG others(1701): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 | 1 | 36 | 0.0278 | 1708 | c.161 others(1723): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1701): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0134 | 1 | 47 | 0.0213 | 1708 | c.338 others(1727): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71435248 | A | AAGGAAGG others(1701): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0036 | 1 | 78 | 0.0128 | 1708 | c.-16 others(1729): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(1701): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 209 | 0.0048 | 1708 | c.*50 others(1719): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TCCCCTCC others(1701): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0014 | 1 | 124 | 0.0081 | 1708 | c.*65 others(1719): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364365 | G | GCTTACAC others(1701): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 246 | 0.0041 | 1708 | c.129 others(1727): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1701): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 5 | 0.2000 | 1708 | c.189 others(1727): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SERPINF2_chr17_1737871_1760265 | 1740284 | G | GACAGTGA others(1701): Show |
upstream_gene_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 441 | 0.0023 | 1708 | c.-26 others(1719): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2586 | chr17 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35913493 | C | CTGTATGT others(1701): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 327 | 0.0031 | 1708 | c.*28 others(1719): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 1808 | chr9 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35913493 | C | CTGTATGT others(1701): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 327 | 0.0031 | 1708 | c.*28 others(1719): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 1808 | chr9 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121748035 | T | TGGGAGGC others(1701): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0170 | 1 | 218 | 0.0046 | 1708 | c.189 others(1723): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
WDR81_chr17_1719704_1743585 | 1740284 | G | GACAGTGA others(1701): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0002 | 1 | 427 | 0.0023 | 1708 | c.*25 others(1719): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 1700 | chr17 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TCCCCTCC others(1702): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0183 | 1 | 72 | 0.0139 | 1709 | c.273 others(1726): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | chr2 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61331582 | C | CCCCAGGC others(1702): Show |
intron_variant | MODIFIER | HG02055.hp2 NA19030.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0012 | a0001c0001t0001g0006 a0002c0002t0012g0020 |
2 | 54 | 0.0370 | 1709 | c.169 others(1728): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61331582 | C | CCCCAGGC others(1702): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02647.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001a0001c0020 | a0001c0001t0008a0001c0001t0018a0001c0001t0028others(1): Show | a0001c0001t0008g0013 a0001c0001t0018g0091 a0001c0001t0028g0092 others(1): Show |
4 | 56 | 0.0714 | 1709 | c.169 others(1728): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61331582 | C | CCCCAGGC others(1702): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0005 | a0002c0005t0010 | a0002c0005t0010g0068 | 1 | 53 | 0.0189 | 1709 | c.169 others(1728): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61331582 | C | CCCCAGGC others(1702): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0105 | 1 | 53 | 0.0189 | 1709 | c.169 others(1728): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(1702): Show |
downstream_gene_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0101 | 1 | 69 | 0.0145 | 1709 | c.*52 others(1720): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558677 | C | CCCTCCCA others(1702): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0003 | a0003c0006 | a0003c0006t0046 | a0003c0006t0046g0037 | 1 | 123 | 0.0081 | 1709 | c.219 others(1728): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar |