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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(410): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 30 | 0.0333 | 417 | c.*51 others(428): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | |||||||
ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(410): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 30 | 0.0333 | 417 | c.*51 others(428): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | |||||||
ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(410): Show |
downstream_gene_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 30 | 0.0333 | 417 | c.*51 others(428): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | |||||||
ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(410): Show |
downstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0207 | 1 | 30 | 0.0333 | 417 | c.*51 others(428): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | |||||||
ADGRG2_chrX_18984307_19127468 | 19074544 | T | TTTCTTCT others(410): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 123 | 0.0081 | 417 | c.-1- others(432): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 2/28 | chrX | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15529638 | A | ATATAGTA others(410): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 57 | 0.0175 | 417 | c.409 others(436): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 318187 | A | ACCCTGCA others(410): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0143 | 1 | 63 | 0.0159 | 417 | c.-36 others(428): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3526 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 318194 | C | CACCTCCC others(410): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG03453.hp2 |
a0004 | a0004c0003 | a0004c0003t0007a0004c0003t0033 | a0004c0003t0007g0244 a0004c0003t0033g0242 |
2 | 257 | 0.0078 | 417 | c.-36 others(428): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3519 | chr5 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132729611 | T | TGAGGGGA others(410): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0004 | a0004c0004 | a0004c0004t0017 | a0004c0004t0017g0150 | 1 | 137 | 0.0073 | 417 | c.248 others(432): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132729611 | T | TGAGGGGA others(410): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0161 | 1 | 137 | 0.0073 | 417 | c.248 others(432): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
ARFGEF2_chr20_48916711_49041693 | 48959479 | C | CTCTCCCT others(410): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02615.hp2 HG02723.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0221 a0001c0001t0002g0244 a0001c0001t0002g0277 others(2): Show |
5 | 84 | 0.0595 | 417 | c.839 others(434): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(410): Show |
disruptive_inframe_insertion | MODERATE | NA18976.hp1 | a0035 | a0035c0032 | a0035c0032t0002 | a0035c0032t0002g0027 | 1 | 3 | 0.3333 | 417 | c.546 others(426): Show |
p.Gly others(432): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
ATP10B_chr5_160558120_160857211 | 160654076 | C | CATATATA others(410): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03041.hp1 |
a0007 | a0007c0015 | a0007c0015t0004 | a0007c0015t0004g0176 a0007c0015t0004g0186 |
2 | 215 | 0.0093 | 417 | c.676 others(434): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82971659 | A | ACAGGGGC others(410): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0002 | 2 | 232 | 0.0086 | 417 | c.460 others(434): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82971698 | A | ACAGGGGC others(410): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG03130.hp1 others(1): Show |
a0001a0003 | a0001c0013a0003c0024 | a0001c0013t0012a0003c0024t0010 | a0001c0013t0012g0001 a0001c0013t0012g0014 a0003c0024t0010g0152 |
4 | 256 | 0.0156 | 417 | c.460 others(434): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
C17orf67_chr17_56786913_56838920 | 56792825 | G | GTGATGGT others(410): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 55 | 0.0182 | 417 | c.*21 others(432): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
CASP8_chr2_201255536_201292709 | 201284695 | G | GGAGACGG others(410): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0058 | 1 | 220 | 0.0045 | 417 | c.803 others(432): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CCDC63_chr12_110841987_110912535 | 110905926 | A | ATATATTA others(410): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0174 | 1 | 286 | 0.0035 | 417 | c.154 others(436): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC88A_chr2_55282842_55424856 | 55297381 | A | AAATATAT others(410): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0012 | 1 | 298 | 0.0034 | 417 | c.482 others(434): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 29/32 | chr2 | TogoVar | |||||||
CD300A_chr17_74461634_74489794 | 74482697 | C | CCTTCCTT others(410): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0253 | 1 | 189 | 0.0053 | 417 | c.774 others(432): Show |
CD300A | ENSG00000167851.15 | transcript | ENST00000360141.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CDH23_chr10_71391920_71820947 | 71420491 | A | ATGATGAT others(410): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0073 | a0073c0133 | a0073c0133t0007 | a0073c0133t0007g0189 | 1 | 194 | 0.0052 | 417 | c.-5- others(434): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 1/69 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939896 | A | AAGAAAGA others(410): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0162 | 1 | 209 | 0.0048 | 417 | c.403 others(432): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(410): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 8 | 0.1250 | 417 | c.*69 others(428): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(410): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 8 | 0.1250 | 417 | c.*69 others(428): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(410): Show |
downstream_gene_variant | MODIFIER | NA18947.hp1 NA18975.hp2 NA18982.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0020 others(3): Show |
6 | 13 | 0.4615 | 417 | c.*69 others(428): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20296130 | C | CCTTCCCT others(410): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00741.hp1 others(38): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0028 a0001c0001t0001g0082 a0001c0001t0001g0154 others(38): Show |
41 | 42 | 0.9762 | 417 | c.321 others(436): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHTF18_chr16_783620_803074 | 795580 | G | GCCCTTCT others(410): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0231 | 1 | 246 | 0.0041 | 417 | c.217 others(434): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHTF18_chr16_783620_803074 | 795580 | G | GCCCTTCT others(410): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0004 | a0004c0013 | a0004c0013t0002 | a0004c0013t0002g0229 | 1 | 246 | 0.0041 | 417 | c.217 others(434): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHTF18_chr16_783620_803074 | 795580 | G | GCCCTTCT others(410): Show |
intron_variant | MODIFIER | HG03579.hp2 NA18980.hp2 |
a0004 | a0004c0005a0004c0013 | a0004c0005t0002a0004c0013t0002 | a0004c0005t0002g0228 a0004c0013t0002g0226 |
2 | 247 | 0.0081 | 417 | c.217 others(434): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNOT1_chr16_58514951_58634826 | 58586431 | A | AAGGGGAG others(410): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 304 | 0.0033 | 417 | c.637 others(432): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 7/48 | chr16 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133829 | C | CTTCCTCC others(410): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 68 | 0.0147 | 417 | c.-42 others(428): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3932 | chr19 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246576190 | G | GCGCCACC others(410): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0162 | 1 | 313 | 0.0032 | 417 | c.-52 others(434): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246576195 | A | ACCGCACT others(410): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02074.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0075 a0001c0001t0003g0076 |
2 | 271 | 0.0074 | 417 | c.-52 others(434): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246576195 | A | ACCGCACT others(410): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0053 | 1 | 270 | 0.0037 | 417 | c.-52 others(434): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246576195 | A | ACCGCACT others(410): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 270 | 0.0037 | 417 | c.-52 others(434): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246576195 | A | ACCGCACT others(410): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG01069.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0060 a0001c0001t0001g0061 others(19): Show |
24 | 293 | 0.0819 | 417 | c.-52 others(434): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246576195 | A | ACCGCACT others(410): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 270 | 0.0037 | 417 | c.-52 others(434): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246576195 | A | ACCGCACT others(410): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 270 | 0.0037 | 417 | c.-52 others(434): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246576195 | A | ACCGCACT others(410): Show |
intron_variant | MODIFIER | HG01099.hp2 NA18942.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0074 a0001c0001t0003g0081 |
2 | 271 | 0.0074 | 417 | c.-52 others(434): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246576196 | T | TTGCACTC others(410): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02257.hp2 HG02717.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0003c0003t0001 | a0001c0001t0004g0044 a0003c0003t0001g0042 a0003c0003t0001g0043 |
3 | 248 | 0.0121 | 417 | c.-52 others(434): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246576196 | T | TTGCACTC others(410): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02451.hp1 HG03209.hp2 others(1): Show |
a0003a0007 | a0003c0003a0007c0005 | a0003c0003t0001a0003c0003t0004a0007c0005t0023 | a0003c0003t0001g0035 a0003c0003t0004g0036 a0003c0003t0004g0037 others(1): Show |
4 | 249 | 0.0161 | 417 | c.-52 others(434): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246576196 | T | TTGCACTC others(410): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0191 | 1 | 246 | 0.0041 | 417 | c.-52 others(434): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246576196 | T | TTGCACTC others(410): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0190 | 1 | 246 | 0.0041 | 417 | c.-52 others(434): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246576196 | T | TTGCACTC others(410): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0039 | 1 | 246 | 0.0041 | 417 | c.-52 others(434): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246576200 | A | ACTCCAGC others(410): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02809.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0004a0001c0012t0002 | a0001c0001t0001g0291 a0001c0001t0004g0018 a0001c0001t0004g0019 others(3): Show |
6 | 36 | 0.1667 | 417 | c.-52 others(434): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246576200 | A | ACTCCAGC others(410): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 a0001c0001t0001g0097 |
2 | 32 | 0.0625 | 417 | c.-52 others(434): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246576200 | A | ACTCCAGC others(410): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03491.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0002g0170 |
3 | 33 | 0.0909 | 417 | c.-52 others(434): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246576200 | A | ACTCCAGC others(410): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 a0001c0001t0001g0092 |
2 | 32 | 0.0625 | 417 | c.-52 others(434): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246576200 | A | ACTCCAGC others(410): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01433.hp2 HG03239.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0093 others(1): Show |
4 | 34 | 0.1176 | 417 | c.-52 others(434): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246576200 | A | ACTCCAGC others(410): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0182 a0004c0004t0003g0183 |
2 | 32 | 0.0625 | 417 | c.-52 others(434): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |