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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP2A2_chr11_920870_1017240 | 965201 | T | TCCCAGAT others(4762): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02132.hp2 HG02135.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0209 a0001c0003t0002g0134 a0001c0003t0002g0195 |
3 | 268 | 0.0112 | 4769 | c.137 others(4786): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 965201 | T | TCCCAGAT others(4762): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0196 | 1 | 268 | 0.0037 | 4769 | c.137 others(4786): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355534 | A | AGGAGGAT others(4762): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0030 | a0030c0026 | a0030c0026t0001 | a0030c0026t0001g0033 | 1 | 82 | 0.0122 | 4769 | c.757 others(4784): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(4763): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 390 | 0.0026 | 4770 | c.109 others(4785): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045949 | C | TCAACACC others(4763): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 390 | 0.0026 | 4770 | c.109 others(4785): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4763): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG03239.hp2 HG03654.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0005 | 4 | 437 | 0.0092 | 4770 | c.-22 others(4781): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240980674 | T | TCCCAGGC others(4763): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0167 | 1 | 350 | 0.0029 | 4770 | c.440 others(4789): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPPK1_chr8_143852324_143883467 | 143862168 | C | CGGCGGCC others(4763): Show |
conservative_inframe_insertion | MODERATE | HG02258.hp2 | a0124 | a0124c0330 | a0124c0330t0004 | a0124c0330t0004g0273 | 1 | 424 | 0.0024 | 4770 | c.110 others(4781): Show |
p.Thr others(4785): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11160/16005 | 11085/15267 | 3695/5088 | chr8 | TogoVar | |||
EYS_chr6_63714980_65712226 | 64295511 | A | AAGAAGCA others(4763): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0004 | 1 | 24 | 0.0417 | 4770 | c.619 others(4791): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 30/42 | chr6 | TogoVar | |||||||
NKX1-1_chr4_1397932_1411442 | 1398088 | G | AGGCATCT others(4763): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 382 | 0.0026 | 4770 | c.*48 others(4781): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4844 | chr4 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042997 | G | GGGACTTC others(4763): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0272 | 1 | 351 | 0.0029 | 4770 | c.-34 others(4781): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3429 | chr15 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042997 | G | GGGACTTC others(4763): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 351 | 0.0029 | 4770 | c.-34 others(4781): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3429 | chr15 | TogoVar | |||||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(4764): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 390 | 0.0026 | 4771 | c.109 others(4786): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(4764): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 390 | 0.0026 | 4771 | c.109 others(4786): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045949 | C | TCAACACC others(4764): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 390 | 0.0026 | 4771 | c.109 others(4786): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4764): Show |
upstream_gene_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0019 | 1 | 437 | 0.0023 | 4771 | c.-22 others(4782): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4765): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG02698.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0018 | a0001c0001t0004g0004 a0001c0001t0004g0019 a0001c0001t0004g0053 others(1): Show |
15 | 437 | 0.0343 | 4772 | c.-22 others(4783): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(4766): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 342 | 0.0029 | 4773 | c.366 others(4790): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4766): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0005 | 1 | 437 | 0.0023 | 4773 | c.-22 others(4784): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4767): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG04184.hp2 NA18997.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 3 | 437 | 0.0069 | 4774 | c.-22 others(4785): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4767): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0005 | 1 | 437 | 0.0023 | 4774 | c.-22 others(4785): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4767): Show |
upstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0005 | 1 | 437 | 0.0023 | 4774 | c.-22 others(4785): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73405442 | T | TTTTTTTT others(4767): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0164 | 1 | 322 | 0.0031 | 4774 | c.-10 others(4793): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 2/12 | chr14 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133973 | T | TCCCTCTC others(4767): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 227 | 0.0044 | 4774 | c.*25 others(4785): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2261 | chr19 | TogoVar | |||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4769): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0005 | 1 | 437 | 0.0023 | 4776 | c.-22 others(4787): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4769): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0005 | 1 | 437 | 0.0023 | 4776 | c.-22 others(4787): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4770): Show |
upstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0004 | a0001c0004t0021 | a0001c0004t0021g0033 | 1 | 437 | 0.0023 | 4777 | c.-22 others(4788): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716505 | G | GGTGGTGT others(4770): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0004 | a0004c0013 | a0004c0013t0001 | a0004c0013t0001g0031 | 1 | 170 | 0.0059 | 4777 | c.86- others(4788): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4770): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0178 | 1 | 251 | 0.0040 | 4777 | c.-45 others(4786): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4771): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0005 | 1 | 437 | 0.0023 | 4778 | c.-22 others(4789): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4771): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG01496.hp2 HG02257.hp2 others(8): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0012a0001c0004t0014 | a0001c0004t0005g0005 a0001c0004t0005g0050 a0001c0004t0012g0020 others(1): Show |
11 | 437 | 0.0252 | 4778 | c.-22 others(4789): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4772): Show |
upstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0020 | 1 | 437 | 0.0023 | 4779 | c.-22 others(4790): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4772): Show |
upstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0005 | 1 | 437 | 0.0023 | 4779 | c.-22 others(4790): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
EPPK1_chr8_143852324_143883467 | 143860133 | T | TGGCCGGG others(4772): Show |
conservative_inframe_insertion | MODERATE | HG02257.hp2 | a0122 | a0122c0230 | a0122c0230t0021 | a0122c0230t0021g0057 | 1 | 424 | 0.0024 | 4779 | c.131 others(4790): Show |
p.Gly others(4794): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13195/16005 | 13120/15267 | 4374/5088 | chr8 | TogoVar | |||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(4773): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0039 | a0001c0039t0002 | a0001c0039t0002g0266 | 1 | 298 | 0.0034 | 4780 | c.955 others(4797): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4773): Show |
upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0005 | 1 | 437 | 0.0023 | 4780 | c.-22 others(4791): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4773): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 HG01934.hp1 HG01934.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0005 | 4 | 437 | 0.0092 | 4780 | c.-22 others(4791): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
DAZ3_chrY_24758069_24818393 | 24794591 | C | CATGCCAG others(4773): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0016 | 1 | 45 | 0.0222 | 4780 | c.787 others(4795): Show |
DAZ3 | ENSG00000187191.16 | transcript | ENST00000382365.7 | protein_coding | 10/18 | chrY | TogoVar | |||||||
DAZ3_chrY_24758069_24818393 | 24796600 | A | ATTTCAAA others(4773): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 45 | 0.0222 | 4780 | c.715 others(4795): Show |
DAZ3 | ENSG00000187191.16 | transcript | ENST00000382365.7 | protein_coding | 9/18 | chrY | TogoVar | |||||||
DAZ3_chrY_24758069_24818393 | 24796600 | A | ATTTCAAA others(4773): Show |
intron_variant | MODIFIER | HG00642.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0026 |
2 | 45 | 0.0444 | 4780 | c.715 others(4795): Show |
DAZ3 | ENSG00000187191.16 | transcript | ENST00000382365.7 | protein_coding | 9/18 | chrY | TogoVar | |||||||
DAZ3_chrY_24758069_24818393 | 24796600 | A | ATTTCAAA others(4773): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 | 1 | 45 | 0.0222 | 4780 | c.715 others(4795): Show |
DAZ3 | ENSG00000187191.16 | transcript | ENST00000382365.7 | protein_coding | 9/18 | chrY | TogoVar | |||||||
DAZ3_chrY_24758069_24818393 | 24796600 | A | ATTTCAAA others(4773): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 45 | 0.0222 | 4780 | c.715 others(4795): Show |
DAZ3 | ENSG00000187191.16 | transcript | ENST00000382365.7 | protein_coding | 9/18 | chrY | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210653976 | A | ACAGTGGA others(4773): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 268 | 0.0037 | 4780 | c.139 others(4801): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | chr1 | TogoVar | |||||||
DAZ1_chrY_23124355_23204008 | 23157860 | A | AAATTGAC others(4774): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 63 | 0.0159 | 4781 | c.177 others(4798): Show |
DAZ1 | ENSG00000188120.16 | transcript | ENST00000405239.6 | protein_coding | 20/27 | chrY | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586254 | C | CGGAGGGG others(4774): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0192 | 1 | 308 | 0.0033 | 4781 | c.157 others(4796): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
NBPF12_chr1_146933324_147001198 | 146992462 | C | CTCAGTGT others(4774): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 122 | 0.0082 | 4781 | c.384 others(4798): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4775): Show |
upstream_gene_variant | MODIFIER | NA18942.hp1 NA18954.hp2 NA18973.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0005 | 5 | 437 | 0.0114 | 4782 | c.-22 others(4793): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4775): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 HG02735.hp2 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0005 | 2 | 437 | 0.0046 | 4782 | c.-22 others(4793): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
IMPG1_chr6_75916114_76077662 | 75927807 | C | CAAAAATG others(4775): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02129.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0099 a0002c0002t0001g0072 |
2 | 302 | 0.0066 | 4782 | c.224 others(4801): Show |
IMPG1 | ENSG00000112706.12 | transcript | ENST00000369950.8 | protein_coding | 15/16 | chr6 | TogoVar | |||||||
IMPG1_chr6_75916114_76077662 | 75927807 | C | CAAAAATG others(4776): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02027.hp1 NA18965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0004 a0001c0001t0001g0095 a0001c0001t0001g0205 others(2): Show |
5 | 302 | 0.0166 | 4783 | c.224 others(4802): Show |
IMPG1 | ENSG00000112706.12 | transcript | ENST00000369950.8 | protein_coding | 15/16 | chr6 | TogoVar |