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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2124): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01081.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0312 a0001c0002t0003g0329 a0001c0002t0003g0335 others(3): Show |
6 | 13 | 0.4615 | 2131 | c.-56 others(2150): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2124): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG00673.hp2 others(37): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0003a0001c0002t0009a0001c0002t0017others(5): Show | a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0302 others(37): Show |
40 | 47 | 0.8511 | 2131 | c.-56 others(2150): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2124): Show |
intron_variant | MODIFIER | NA19009.hp2 NA19080.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0310 a0001c0002t0003g0313 |
2 | 9 | 0.2222 | 2131 | c.-56 others(2150): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2124): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0340 | 1 | 8 | 0.1250 | 2131 | c.-56 others(2150): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2124): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18994.hp1 |
a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0294 a0001c0002t0016g0351 |
2 | 9 | 0.2222 | 2131 | c.-56 others(2150): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2124): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0324 | 1 | 8 | 0.1250 | 2131 | c.-56 others(2150): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2124): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0301 | 1 | 8 | 0.1250 | 2131 | c.-56 others(2150): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492360 | T | TCCTCCCG others(2124): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 234 | 0.0043 | 2131 | c.126 others(2150): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2124): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 201 | 0.0050 | 2131 | c.356 others(2146): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2124): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0015 | a0015c0018 | a0015c0018t0008 | a0015c0018t0008g0124 | 1 | 356 | 0.0028 | 2131 | c.341 others(2148): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
VNN1_chr6_132675849_132719055 | 132706873 | G | GAAGTTAT others(2124): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0013 | a0002c0013t0003 | a0002c0013t0003g0061 | 1 | 411 | 0.0024 | 2131 | c.341 others(2148): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(2125): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0013 | 1 | 176 | 0.0057 | 2132 | c.373 others(2149): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(2125): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0154 | 1 | 176 | 0.0057 | 2132 | c.373 others(2149): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(2125): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0026 | 1 | 176 | 0.0057 | 2132 | c.373 others(2149): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(2125): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01106.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0066 others(4): Show |
8 | 183 | 0.0437 | 2132 | c.373 others(2149): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(2125): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0053 | 1 | 176 | 0.0057 | 2132 | c.373 others(2149): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(2125): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 1 | 176 | 0.0057 | 2132 | c.373 others(2149): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(2125): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01258.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0012 | 2 | 177 | 0.0113 | 2132 | c.373 others(2149): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2125): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 16 | 0.0625 | 2132 | c.164 others(2151): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2125): Show |
downstream_gene_variant | MODIFIER | NA18951.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 a0001c0001t0001g0314 |
2 | 8 | 0.2500 | 2132 | c.*16 others(2143): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(2125): Show |
downstream_gene_variant | MODIFIER | NA18951.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 2 | 8 | 0.2500 | 2132 | c.*22 others(2143): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
FAM118A_chr22_45304934_45346955 | 45328230 | A | ATGGGCTG others(2125): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0021 | 2 | 400 | 0.0050 | 2132 | c.522 others(2147): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(2125): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0075 | 1 | 295 | 0.0034 | 2132 | c.522 others(2147): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(2125): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0128 | 1 | 295 | 0.0034 | 2132 | c.522 others(2147): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(2125): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0113 | 1 | 295 | 0.0034 | 2132 | c.522 others(2147): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(2125): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0118 | 1 | 295 | 0.0034 | 2132 | c.522 others(2147): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(2125): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0335 | 1 | 295 | 0.0034 | 2132 | c.522 others(2147): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(2125): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 209 | 0.0048 | 2132 | c.*50 others(2143): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(2125): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 2 | 210 | 0.0095 | 2132 | c.*50 others(2143): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(2125): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG01255.hp2 HG03490.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0015 | 4 | 212 | 0.0189 | 2132 | c.*50 others(2143): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(2125): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01106.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0027 |
7 | 215 | 0.0326 | 2132 | c.*50 others(2143): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(2125): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 209 | 0.0048 | 2132 | c.*50 others(2143): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(2125): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 209 | 0.0048 | 2132 | c.*50 others(2143): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(2125): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 2 | 210 | 0.0095 | 2132 | c.*50 others(2143): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2125): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02622.hp1 HG02818.hp1 others(5): Show |
a0001a0003 | a0001c0009a0001c0021a0001c0023others(3): Show | a0001c0009t0008a0001c0021t0008a0001c0023t0010others(4): Show | a0001c0009t0008g0110 a0001c0009t0008g0111 a0001c0021t0008g0058 others(5): Show |
8 | 12 | 0.6667 | 2132 | c.742 others(2149): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2125): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0028 | a0001c0028t0043 | a0001c0028t0043g0079 | 1 | 5 | 0.2000 | 2132 | c.742 others(2149): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2125): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0017 | a0001c0017t0003 | a0001c0017t0003g0044 | 1 | 5 | 0.2000 | 2132 | c.742 others(2149): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2125): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02976.hp1 |
a0001 | a0001c0018 | a0001c0018t0007 | a0001c0018t0007g0104 a0001c0018t0007g0105 |
2 | 6 | 0.3333 | 2132 | c.742 others(2149): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2125): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00733.hp1 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0007others(16): Show | a0001c0003t0001a0001c0003t0009a0001c0004t0035others(22): Show | a0001c0003t0001g0100 a0001c0003t0009g0075 a0001c0004t0035g0084 others(25): Show |
28 | 32 | 0.8750 | 2132 | c.742 others(2149): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2125): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0040 | a0003c0040t0001 | a0003c0040t0001g0008 | 1 | 5 | 0.2000 | 2132 | c.742 others(2149): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | |||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2125): Show |
intron_variant | MODIFIER | HG02071.hp2 NA20905.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0297 a0001c0002t0003g0314 |
2 | 9 | 0.2222 | 2132 | c.-56 others(2151): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2125): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0286 | 1 | 8 | 0.1250 | 2132 | c.-56 others(2151): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19924459 | C | CCCCCACC others(2125): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02683.hp2 HG03491.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0010 | a0001c0001t0001g0044 a0001c0001t0004g0063 a0001c0001t0004g0077 others(2): Show |
5 | 256 | 0.0195 | 2132 | c.58- others(2149): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377652 | T | TCTGCCCT others(2125): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 | 1 | 288 | 0.0035 | 2132 | c.*41 others(2147): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | |||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2126): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0049 | 1 | 2 | 0.5000 | 2133 | c.-52 others(2154): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2126): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0034 | a0034c0048 | a0034c0048t0002 | a0034c0048t0002g0100 | 1 | 97 | 0.0103 | 2133 | c.101 others(2152): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252899 | C | CCACCATC others(2126): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0122 | 1 | 268 | 0.0037 | 2133 | c.666 others(2150): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LSS_chr21_46183446_46233774 | 46184617 | C | CCAACCCA others(2126): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01106.hp2 NA20805.hp2 |
a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0122 a0001c0006t0009g0123 a0001c0006t0009g0124 |
3 | 343 | 0.0087 | 2133 | c.*64 others(2144): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 3828 | chr21 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2126): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02723.hp1 HG02886.hp2 others(2): Show |
a0001a0003a0008 | a0001c0011a0001c0017a0003c0005others(1): Show | a0001c0011t0001a0001c0017t0002a0001c0017t0006others(2): Show | a0001c0011t0001g0039 a0001c0017t0002g0040 a0001c0017t0006g0055 others(2): Show |
5 | 9 | 0.5556 | 2133 | c.742 others(2150): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2126): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02280.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0007a0001c0008a0001c0018 | a0001c0007t0022a0001c0007t0038a0001c0008t0017others(1): Show | a0001c0007t0022g0108 a0001c0007t0038g0076 a0001c0008t0017g0050 others(1): Show |
4 | 8 | 0.5000 | 2133 | c.742 others(2150): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar |