regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2116): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0013 | a0002c0013t0003 | a0002c0013t0003g0141 | 1 | 160 | 0.0063 | 2123 | c.742 others(2140): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2116): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0003 | a0003c0020 | a0003c0020t0003 | a0003c0020t0003g0022 | 1 | 160 | 0.0063 | 2123 | c.742 others(2140): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952751 | G | GGGGGGGC others(2116): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0213 | 1 | 242 | 0.0041 | 2123 | c.360 others(2142): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952751 | G | GGGGGGGC others(2116): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0232 | 1 | 242 | 0.0041 | 2123 | c.360 others(2142): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2116): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2123 | c.*44 others(2134): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2116): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2123 | c.*44 others(2134): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2116): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG01433.hp1 others(18): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0005a0003c0003t0001 | a0001c0001t0001g0000a0001c0001t0005g0000a0003c0003t0001g0000 | 21 | 375 | 0.0560 | 2123 | c.*44 others(2134): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2116): Show |
downstream_gene_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2123 | c.*44 others(2134): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2116): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 HG01346.hp2 HG01358.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0006 | a0001c0001t0001g0000a0002c0002t0006g0000 | 3 | 375 | 0.0080 | 2123 | c.*44 others(2134): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2116): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01081.hp1 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0000 | 2 | 375 | 0.0053 | 2123 | c.*44 others(2134): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2116): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2123 | c.*44 others(2134): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
WDR49_chr3_167473684_167658942 | 167547408 | T | TAGAAAAA others(2116): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 | 1 | 210 | 0.0048 | 2123 | c.182 others(2142): Show |
WDR49 | ENSG00000174776.12 | transcript | ENST00000682715.1 | protein_coding | 10/18 | chr3 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(2117): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 91 | 0.0110 | 2124 | c.177 others(2143): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2117): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 316 | 0.0032 | 2124 | c.44- others(2137): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2117): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 390 | 0.0026 | 2124 | c.972 others(2137): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2117): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 158 | 0.0063 | 2124 | c.*11 others(2145): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3583450 | G | GCAGCCAC others(2117): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0097 | 1 | 292 | 0.0034 | 2124 | c.377 others(2141): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17876901 | G | GGGAGGTT others(2117): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 274 | 0.0037 | 2124 | c.224 others(2143): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877493 | T | TAGGGAGG others(2117): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0143 | 1 | 274 | 0.0037 | 2124 | c.224 others(2143): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MUC17_chr7_101015081_101063859 | 101037124 | A | AAGCCAGT others(2117): Show |
disruptive_inframe_insertion | MODERATE | NA18986.hp2 | a0033 | a0033c0044 | a0033c0044t0003 | a0033c0044t0003g0119 | 1 | 366 | 0.0027 | 2124 | c.571 others(2133): Show |
p.Gln others(2139): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5766/14352 | 5711/13482 | 1904/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC17_chr7_101015081_101063859 | 101037124 | A | AAGCCAGT others(2117): Show |
disruptive_inframe_insertion | MODERATE | NA19010.hp1 NA19088.hp2 |
a0006 | a0006c0029 | a0006c0029t0003 | a0006c0029t0003g0027a0006c0029t0003g0139 | 2 | 366 | 0.0055 | 2124 | c.571 others(2133): Show |
p.Gln others(2139): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5766/14352 | 5711/13482 | 1904/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC17_chr7_101015081_101063859 | 101037124 | A | AAGCCAGT others(2117): Show |
disruptive_inframe_insertion | MODERATE | HG02165.hp1 NA18941.hp1 NA18984.hp1 others(1): Show |
a0004 | a0004c0015 | a0004c0015t0003 | a0004c0015t0003g0115a0004c0015t0003g0117a0004c0015t0003g0127others(1): Show | 4 | 366 | 0.0109 | 2124 | c.571 others(2133): Show |
p.Gln others(2139): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5766/14352 | 5711/13482 | 1904/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC17_chr7_101015081_101063859 | 101037124 | A | AAGCCAGT others(2117): Show |
disruptive_inframe_insertion | MODERATE | HG01928.hp1 HG02074.hp2 HG02132.hp1 others(20): Show |
a0004a0021a0037others(2): Show | a0004c0004a0004c0028a0004c0030others(5): Show | a0004c0004t0001a0004c0004t0003a0004c0028t0003others(6): Show | a0004c0004t0001g0123a0004c0004t0003g0005a0004c0004t0003g0008others(17): Show | 23 | 366 | 0.0628 | 2124 | c.571 others(2133): Show |
p.Gln others(2139): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5766/14352 | 5711/13482 | 1904/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC17_chr7_101015081_101063859 | 101037124 | A | AAGCCAGT others(2117): Show |
disruptive_inframe_insertion | MODERATE | NA18959.hp1 | a0036 | a0036c0049 | a0036c0049t0003 | a0036c0049t0003g0118 | 1 | 366 | 0.0027 | 2124 | c.571 others(2133): Show |
p.Gln others(2139): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5766/14352 | 5711/13482 | 1904/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC17_chr7_101015081_101063859 | 101037124 | A | AAGCCAGT others(2117): Show |
disruptive_inframe_insertion | MODERATE | HG00423.hp2 HG00621.hp2 NA18940.hp2 others(15): Show |
a0006a0022a0034others(1): Show | a0006c0009a0006c0014a0006c0052others(4): Show | a0006c0009t0001a0006c0009t0003a0006c0014t0003others(5): Show | a0006c0009t0001g0161a0006c0009t0003g0005a0006c0009t0003g0027others(15): Show | 18 | 366 | 0.0492 | 2124 | c.571 others(2133): Show |
p.Gln others(2139): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5766/14352 | 5711/13482 | 1904/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC17_chr7_101015081_101063859 | 101037124 | A | AAGCCAGT others(2117): Show |
disruptive_inframe_insertion | MODERATE | HG03130.hp1 | a0043 | a0043c0041 | a0043c0041t0002 | a0043c0041t0002g0283 | 1 | 366 | 0.0027 | 2124 | c.571 others(2133): Show |
p.Gln others(2139): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5766/14352 | 5711/13482 | 1904/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC17_chr7_101015081_101063859 | 101037124 | A | AAGCCAGT others(2117): Show |
disruptive_inframe_insertion | MODERATE | HG02622.hp2 HG03195.hp1 |
a0024 | a0024c0026 | a0024c0026t0002 | a0024c0026t0002g0102a0024c0026t0002g0103 | 2 | 366 | 0.0055 | 2124 | c.571 others(2133): Show |
p.Gln others(2139): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5766/14352 | 5711/13482 | 1904/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC17_chr7_101015081_101063859 | 101037124 | A | AAGCCAGT others(2117): Show |
disruptive_inframe_insertion | MODERATE | HG02258.hp1 | a0032 | a0032c0040 | a0032c0040t0001 | a0032c0040t0001g0042 | 1 | 366 | 0.0027 | 2124 | c.571 others(2133): Show |
p.Gln others(2139): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5766/14352 | 5711/13482 | 1904/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC17_chr7_101015081_101063859 | 101037124 | A | AAGCCAGT others(2117): Show |
disruptive_inframe_insertion | MODERATE | HG02723.hp1 HG03098.hp1 NA20129.hp1 |
a0023a0042 | a0023c0027a0042c0042 | a0023c0027t0002a0042c0042t0001 | a0023c0027t0002g0043a0023c0027t0002g0044a0042c0042t0001g0045 | 3 | 366 | 0.0082 | 2124 | c.571 others(2133): Show |
p.Gln others(2139): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5766/14352 | 5711/13482 | 1904/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2117): Show |
downstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2124 | c.*44 others(2135): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744785 | T | TAGCACTG others(2117): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0050 | 1 | 196 | 0.0051 | 2124 | c.655 others(2141): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2117): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0004 | a0004c0004 | a0004c0004t0031 | a0004c0004t0031g0148 | 1 | 418 | 0.0024 | 2124 | c.341 others(2141): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2118): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0021 | 1 | 116 | 0.0086 | 2125 | c.-52 others(2146): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2118): Show |
downstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 371 | 0.0027 | 2125 | c.*92 others(2136): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126947850 | G | GTGGTGGT others(2118): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0002 | a0002c0018 | a0002c0018t0001 | a0002c0018t0001g0030 | 1 | 136 | 0.0074 | 2125 | c.47- others(2142): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTTC others(2118): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0092 | 1 | 400 | 0.0025 | 2125 | c.-5+ others(2138): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTTC others(2118): Show |
intron_variant | MODIFIER | HG01074.hp2 HG03834.hp1 |
a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0046 | 2 | 400 | 0.0050 | 2125 | c.-5+ others(2138): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HTR3B_chr11_113899796_113954079 | 113931249 | G | GTCTAGGT others(2118): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01256.hp1 |
a0003 | a0003c0006 | a0003c0006t0023a0003c0006t0046 | a0003c0006t0023g0207a0003c0006t0046g0139 | 2 | 418 | 0.0048 | 2125 | c.214 others(2140): Show |
HTR3B | ENSG00000149305.8 | transcript | ENST00000260191.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2118): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0211 | 1 | 262 | 0.0038 | 2125 | c.212 others(2144): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2118): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0101 | 1 | 160 | 0.0063 | 2125 | c.742 others(2142): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2118): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02293.hp2 HG02809.hp1 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0024a0001c0051others(5): Show | a0001c0004t0002a0001c0004t0003a0001c0024t0009others(7): Show | a0001c0004t0002g0098a0001c0004t0003g0092a0001c0024t0009g0045others(15): Show | 18 | 160 | 0.1125 | 2125 | c.742 others(2142): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2118): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0002 | a0002c0001 | a0002c0001t0014 | a0002c0001t0014g0134 | 1 | 160 | 0.0063 | 2125 | c.742 others(2142): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2118): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02572.hp1 |
a0001 | a0001c0016 | a0001c0016t0006a0001c0016t0023 | a0001c0016t0006g0052a0001c0016t0023g0047 | 2 | 160 | 0.0125 | 2125 | c.742 others(2142): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2118): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18972.hp2 NA19065.hp2 others(1): Show |
a0001a0002 | a0001c0004a0001c0012a0002c0001 | a0001c0004t0002a0001c0012t0005a0002c0001t0002 | a0001c0004t0002g0068a0001c0004t0002g0069a0001c0012t0005g0081others(1): Show | 4 | 160 | 0.0250 | 2125 | c.742 others(2142): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2118): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01070.hp1 HG01071.hp1 others(13): Show |
a0001a0002a0003 | a0001c0008a0001c0009a0001c0010others(7): Show | a0001c0008t0031a0001c0009t0025a0001c0010t0005others(9): Show | a0001c0008t0031g0034a0001c0009t0025g0096a0001c0010t0005g0033others(13): Show | 16 | 160 | 0.1000 | 2125 | c.742 others(2142): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2118): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0047 | a0001c0047t0002 | a0001c0047t0002g0041 | 1 | 160 | 0.0063 | 2125 | c.742 others(2142): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATT others(2118): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0011 | 1 | 432 | 0.0023 | 2125 | c.-20 others(2136): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(2118): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 186 | 0.0054 | 2125 | c.-50 others(2136): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2118): Show |
upstream_gene_variant | MODIFIER | NA18969.hp1 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101a0001c0001t0001g0103 | 2 | 361 | 0.0055 | 2125 | c.-48 others(2136): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2118): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0004 | a0004c0004 | a0004c0004t0017 | a0004c0004t0017g0160 | 1 | 418 | 0.0024 | 2125 | c.341 others(2142): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar |