| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AHRR_chr5_316714_443285 | 318220 | C | CCAGCCTC others(662): Show |
upstream_gene_variant | MODIFIER | NA18943.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0062 | a0001c0001t0006g0037 a0001c0001t0062g0038 |
2 | 255 | 0.0078 | 669 | c.-36 others(680): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3493 | chr5 | TogoVar | |||||||
| ARHGAP39_chr8_144524179_144690846 | 144687461 | G | GGTGAGCA others(662): Show |
upstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 146 | 0.0068 | 669 | c.-18 others(680): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1616 | chr8 | TogoVar | |||||||
| ATP10B_chr5_160558120_160857211 | 160652904 | T | TGTATTGC others(662): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0008 | a0008c0012 | a0008c0012t0017 | a0008c0012t0017g0196 | 1 | 228 | 0.0044 | 669 | c.676 others(686): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
| ATP11A_chr13_112685038_112892168 | 112787108 | C | CGGGTGTC others(662): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0191 | 1 | 240 | 0.0042 | 669 | c.162 others(686): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| C11orf24_chr11_68256338_68276973 | 68264684 | C | CTGTCCAT others(662): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0073 | 1 | 81 | 0.0123 | 669 | c.-99 others(684): Show |
C11orf24 | ENSG00000171067.11 | transcript | ENST00000304271.11 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
| CACNA1B_chr9_137872782_138129619 | 138127006 | C | CCCCCGGC others(662): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 NA18906.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0005a0001c0003t0005 | a0001c0002t0005g0023 a0001c0003t0005g0129 |
2 | 236 | 0.0085 | 669 | c.*50 others(680): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2388 | chr9 | TogoVar | |||||||
| CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(662): Show |
intron_variant | MODIFIER | HG03239.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 a0001c0001t0001g0097 |
2 | 5 | 0.4000 | 669 | c.712 others(686): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
| CECR2_chr22_17364460_17563151 | 17524554 | G | GGCTAATT others(662): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0271 | 1 | 85 | 0.0118 | 669 | c.110 others(686): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132888494 | T | TACCCCTG others(662): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0023 | a0023c0099 | a0023c0099t0002 | a0023c0099t0002g0017 | 1 | 116 | 0.0086 | 669 | c.330 others(688): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
| COL22A1_chr8_138583235_138919041 | 138692270 | T | TTGTGGAG others(662): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01261.hp1 HG02451.hp1 others(3): Show |
a0002a0004 | a0002c0004a0002c0005a0002c0022others(2): Show | a0002c0004t0008a0002c0005t0009a0002c0022t0001others(2): Show | a0002c0004t0008g0022 a0002c0004t0008g0100 a0002c0005t0009g0136 others(3): Show |
6 | 54 | 0.1111 | 669 | c.275 others(688): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 35/64 | chr8 | TogoVar | |||||||
| COL22A1_chr8_138583235_138919041 | 138692270 | T | TTGTGGAG others(662): Show |
intron_variant | MODIFIER | HG03704.hp1 HG04199.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0103 a0001c0001t0001g0124 a0001c0002t0002g0044 |
3 | 51 | 0.0588 | 669 | c.275 others(688): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 35/64 | chr8 | TogoVar | |||||||
| COL4A1_chr13_110143963_110312157 | 110255704 | G | GGGCAGGC others(662): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0047 | a0002c0047t0002 | a0002c0047t0002g0335 | 1 | 260 | 0.0038 | 669 | c.85- others(686): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
| DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(662): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0226 | 1 | 83 | 0.0120 | 669 | c.724 others(688): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
| DENND2A_chr7_140513420_140645813 | 140621426 | T | TAAGAAAT others(662): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02155.hp2 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0001a0001c0020t0001 | a0001c0001t0001g0093 a0001c0020t0001g0092 |
2 | 252 | 0.0079 | 669 | c.-24 others(690): Show |
DENND2A | ENSG00000146966.13 | transcript | ENST00000496613.6 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
| DOCK8_chr9_209865_470255 | 400766 | T | TCCACCAT others(662): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0009 | a0009c0017 | a0009c0017t0003 | a0009c0017t0003g0020 | 1 | 231 | 0.0043 | 669 | c.323 others(688): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| EBF2_chr8_25836725_26050413 | 26005383 | T | TAATTATA others(662): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 192 | 0.0052 | 669 | c.551 others(688): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
| EBF2_chr8_25836725_26050413 | 26005383 | T | TAATTATA others(662): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0134 | 1 | 192 | 0.0052 | 669 | c.551 others(688): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
| EML1_chr14_99788413_99947060 | 99928143 | G | GTGGTGGT others(662): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0194 | 1 | 246 | 0.0041 | 669 | c.190 others(688): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| FMN2_chr1_240086883_240480187 | 240185033 | C | CCCCTTCT others(662): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0024 | a0024c0132 | a0024c0132t0005 | a0024c0132t0005g0146 | 1 | 126 | 0.0079 | 669 | c.193 others(688): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| GAS6_chr13_113815549_113869076 | 113817317 | T | TCCTCCCC others(662): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 58 | 0.0172 | 669 | c.*35 others(680): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3231 | chr13 | TogoVar | |||||||
| GATC_chr12_120441444_120468749 | 120467991 | A | AGCTGAGG others(662): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG02622.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0002t0002 | a0001c0001t0017g0015 a0001c0001t0017g0132 a0001c0002t0002g0006 |
4 | 391 | 0.0102 | 669 | c.*80 others(680): Show |
GATC | ENSG00000257218.6 | transcript | ENST00000551765.6 | protein_coding | 4243 | chr12 | TogoVar | |||||||
| GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(662): Show |
downstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 669 | c.*31 others(680): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | |||||||
| IFFO2_chr1_18899280_18961676 | 18925820 | A | ATGGATGG others(662): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0033 | 1 | 318 | 0.0031 | 669 | c.666 others(686): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
| IFFO2_chr1_18899280_18961676 | 18925894 | T | TGGTTGGA others(662): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0127 | 1 | 331 | 0.0030 | 669 | c.666 others(686): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
| INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(662): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0121 | 1 | 13 | 0.0769 | 669 | c.978 others(686): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| INS_chr11_2154779_2166209 | 2161948 | C | CACCCCTG others(662): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 13 | 0.0769 | 669 | c.-79 others(678): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | |||||||
| IQSEC1_chr3_12892043_13078429 | 12896683 | T | TCTGCCAG others(662): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0168 | 1 | 246 | 0.0041 | 669 | c.*42 others(680): Show |
IQSEC1 | ENSG00000144711.17 | transcript | ENST00000613206.2 | protein_coding | 359 | chr3 | TogoVar | |||||||
| IQSEC3_chr12_61767_183455 | 163304 | C | CCCTCCCT others(662): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02280.hp1 |
a0003a0006 | a0003c0046a0006c0031 | a0003c0046t0001a0006c0031t0001 | a0003c0046t0001g0231 a0006c0031t0001g0057 |
2 | 114 | 0.0175 | 669 | c.258 others(686): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(662): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0071 | 1 | 5 | 0.2000 | 669 | c.-46 others(680): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | |||||||
| KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(662): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 HG02080.hp1 HG02109.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(2): Show | a0001c0001t0001g0157 a0001c0001t0004g0004 a0001c0001t0011g0061 others(3): Show |
6 | 10 | 0.6000 | 669 | c.-46 others(680): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | |||||||
| KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(662): Show |
upstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 5 | 0.2000 | 669 | c.-46 others(680): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | |||||||
| KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(662): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0017 | a0001c0017t0018 | a0001c0017t0018g0101 | 1 | 5 | 0.2000 | 669 | c.-46 others(680): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | |||||||
| KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(662): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 | 1 | 77 | 0.0130 | 669 | c.-27 others(680): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
| LHFPL3_chr7_104323603_104913561 | 104824207 | A | ATAATATA others(662): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 42 | 0.0238 | 669 | c.683 others(688): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
| LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(662): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0346 | 1 | 194 | 0.0052 | 669 | c.*56 others(680): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | |||||||
| LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(662): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0286 | 1 | 194 | 0.0052 | 669 | c.*56 others(680): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | |||||||
| LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(662): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02630.hp2 others(3): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0011t0013 | a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0231 others(3): Show |
6 | 199 | 0.0302 | 669 | c.*56 others(680): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | |||||||
| LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(662): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(48): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0021a0002c0003t0003others(2): Show | a0001c0001t0001g0109 a0001c0001t0001g0160 a0001c0001t0001g0279 others(44): Show |
51 | 244 | 0.2090 | 669 | c.*56 others(680): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | |||||||
| LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(662): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG02647.hp1 NA19240.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0016 a0002c0002t0002g0229 |
3 | 196 | 0.0153 | 669 | c.*56 others(680): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | |||||||
| LY75_chr2_159798355_159909756 | 159874319 | G | GTTTTGTA others(662): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01168.hp2 HG04184.hp2 others(3): Show |
a0002a0007a0010others(1): Show | a0002c0002a0007c0007a0010c0013others(1): Show | a0002c0002t0002a0007c0007t0002a0010c0013t0001others(1): Show | a0002c0002t0002g0070 a0007c0007t0002g0101 a0010c0013t0001g0096 others(3): Show |
6 | 45 | 0.1333 | 669 | c.197 others(688): Show |
LY75 | ENSG00000054219.11 | transcript | ENST00000263636.5 | protein_coding | 12/34 | chr2 | TogoVar | |||||||
| MICALL2_chr7_1429359_1464470 | 1446353 | G | GGAGTGAG others(662): Show |
intron_variant | MODIFIER | NA18994.hp1 NA19088.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0220 a0001c0002t0001g0221 |
2 | 174 | 0.0115 | 669 | c.641 others(684): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
| MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(662): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 8 | 0.1250 | 669 | c.293 others(688): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(662): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 a0001c0001t0001g0302 |
2 | 9 | 0.2222 | 669 | c.293 others(688): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(662): Show |
intron_variant | MODIFIER | HG02523.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 a0001c0001t0001g0230 |
2 | 9 | 0.2222 | 669 | c.293 others(688): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| MYOM2_chr8_2040046_2150456 | 2086189 | A | ATGATCTC others(662): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0037 | 1 | 278 | 0.0036 | 669 | c.164 others(686): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAC others(662): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0176 | 1 | 118 | 0.0085 | 669 | c.-75 others(688): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
| NOTCH1_chr9_136489433_136551048 | 136535645 | T | TCCCGGGG others(662): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0160 | 1 | 124 | 0.0081 | 669 | c.140 others(686): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
| NOTCH1_chr9_136489433_136551048 | 136535671 | T | TGGAGGGG others(662): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0228 | 1 | 214 | 0.0047 | 669 | c.140 others(686): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
| OR11H4_chr14_20234286_20249349 | 20237654 | A | ATAGTATA others(662): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 | 1 | 254 | 0.0039 | 669 | c.-16 others(680): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1631 | chr14 | TogoVar | |||||||
| PDCD6_chr5_266646_319974 | 318049 | C | CCCTCCCC others(662): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 NA19087.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0150 a0001c0002t0001g0331 |
2 | 249 | 0.0080 | 669 | c.*35 others(680): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3076 | chr5 | TogoVar |