| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ITPRID1_chr7_31509090_31661504 | 31657166 | T | TATATTAT others(569): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG02280.hp1 others(12): Show |
a0003a0004a0014 | a0003c0012a0003c0021a0004c0006others(2): Show | a0003c0012t0006a0003c0012t0024a0003c0021t0006others(3): Show | a0003c0012t0006g0224a0003c0012t0006g0245a0003c0012t0006g0278others(12): Show | 15 | 312 | 0.0481 | 576 | c.*43 others(587): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 663 | chr7 | TogoVar | ||||||
| ITPRID1_chr7_31509090_31661504 | 31657166 | T | TATATTAT others(569): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0281 | 1 | 312 | 0.0032 | 576 | c.*43 others(587): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 663 | chr7 | TogoVar | ||||||
| ITPRID1_chr7_31509090_31661504 | 31657166 | T | TATGTTAT others(569): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0026 | a0026c0030 | a0026c0030t0023 | a0026c0030t0023g0170 | 1 | 312 | 0.0032 | 576 | c.*43 others(587): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 663 | chr7 | TogoVar | ||||||
| KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(569): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0078 | 1 | 312 | 0.0032 | 576 | c.-41 others(591): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| KCNK10_chr14_88175108_88328269 | 88310229 | G | GATATACC others(569): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0009 | a0001c0009t0098 | a0001c0009t0098g0106 | 1 | 334 | 0.0030 | 576 | c.52+ others(593): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
| LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATAT others(569): Show |
intron_variant | MODIFIER | HG04115.hp2 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203a0001c0001t0001g0214 | 2 | 260 | 0.0077 | 576 | c.125 others(593): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATAT others(569): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0020 | 1 | 260 | 0.0039 | 576 | c.125 others(593): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATAT others(569): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02486.hp1 HG02698.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0019a0001c0001t0001g0024a0001c0001t0001g0068others(7): Show | 10 | 260 | 0.0385 | 576 | c.125 others(593): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LHPP_chr10_124456823_124619141 | 124471657 | A | ATATTTAT others(569): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0009 | 1 | 260 | 0.0039 | 576 | c.125 others(593): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LMF1_chr16_848634_975984 | 953765 | C | CCACCCCA others(569): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0067 | 1 | 294 | 0.0034 | 576 | c.503 others(591): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| LRCH3_chr3_197786254_197893436 | 197877202 | G | GCAGTGAT others(569): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0192 | 1 | 292 | 0.0034 | 576 | c.220 others(595): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| LUC7L_chr16_183990_234449 | 186156 | A | AACAGCGA others(569): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 350 | 0.0029 | 576 | c.*30 others(587): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2833 | chr16 | TogoVar | ||||||
| MAEA_chr4_1284891_1345137 | 1316970 | A | ACGGCCCC others(569): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 | 1 | 388 | 0.0026 | 576 | c.456 others(593): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MBD3L3_chr19_7051207_7063676 | 7061806 | T | TATATAAT others(569): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 NA18522.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 | 2 | 288 | 0.0069 | 576 | c.-32 others(587): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3131 | chr19 | TogoVar | ||||||
| MBD3L3_chr19_7051207_7063676 | 7061806 | T | TATATAAT others(569): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 | 1 | 288 | 0.0035 | 576 | c.-32 others(587): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3131 | chr19 | TogoVar | ||||||
| MEX3D_chr19_1549672_1573325 | 1550075 | C | CCCATCCA others(569): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092a0001c0001t0002g0096 | 2 | 372 | 0.0054 | 576 | c.*54 others(587): Show |
MEX3D | ENSG00000181588.17 | transcript | ENST00000402693.5 | protein_coding | 4596 | chr19 | TogoVar | ||||||
| MICAL3_chr22_17782649_18029561 | 17876854 | T | TAGGGAGG others(569): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0031 | a0031c0053 | a0031c0053t0005 | a0031c0053t0005g0084 | 1 | 274 | 0.0037 | 576 | c.224 others(595): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
| MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(569): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0032 | 1 | 140 | 0.0071 | 576 | c.114 others(595): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MRPS9_chr2_105033069_105104960 | 105055529 | C | CGCATTTT others(569): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 394 | 0.0025 | 576 | c.315 others(593): Show |
MRPS9 | ENSG00000135972.9 | transcript | ENST00000258455.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MRPS9_chr2_105033069_105104960 | 105055529 | C | CGCATTTT others(569): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 394 | 0.0025 | 576 | c.315 others(593): Show |
MRPS9 | ENSG00000135972.9 | transcript | ENST00000258455.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MTERF3_chr8_96234402_96266610 | 96250609 | C | CGGCGGAG others(569): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 294 | 0.0034 | 576 | c.677 others(591): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | ||||||
| MTTP_chr4_99569824_99628997 | 99588843 | A | ACATATAT others(569): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0003 | a0003c0003 | a0003c0003t0010 | a0003c0003t0010g0173 | 1 | 364 | 0.0028 | 576 | c.394 others(591): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MTTP_chr4_99569824_99628997 | 99588981 | A | ACATATAT others(569): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 364 | 0.0028 | 576 | c.394 others(591): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MTTP_chr4_99569824_99628997 | 99588981 | A | ATATATAT others(569): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0059 | 1 | 364 | 0.0028 | 576 | c.394 others(591): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
| MTTP_chr4_99569824_99628997 | 99589035 | A | ATATATAT others(569): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 364 | 0.0028 | 576 | c.394 others(591): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195771146 | C | CGGGTTGG others(569): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0118 | a0118c0112 | a0118c0112t0001 | a0118c0112t0001g0109 | 1 | 249 | 0.0040 | 576 | c.132 others(595): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 5/24 | chr3 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195771146 | C | CGGGTTGG others(569): Show |
intron_variant | MODIFIER | HG02135.hp1 HG03239.hp2 NA18973.hp1 |
a0002a0021a0139 | a0002c0002a0021c0039a0139c0095 | a0002c0002t0001a0021c0039t0001a0139c0095t0001 | a0002c0002t0001g0128a0021c0039t0001g0124a0139c0095t0001g0080 | 3 | 249 | 0.0121 | 576 | c.132 others(595): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 5/24 | chr3 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195778999 | G | GGAAGAGG others(569): Show |
conservative_inframe_insertion | MODERATE | HG01981.hp2 | a0122 | a0122c0058 | a0122c0058t0001 | a0122c0058t0001g0142 | 1 | 249 | 0.0040 | 576 | c.125 others(587): Show |
p.Leu others(591): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12692/16756 | 12580/16239 | 4194/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195783287 | G | GACCGGTG others(569): Show |
conservative_inframe_insertion | MODERATE | HG02717.hp2 NA18906.hp1 |
a0055a0056 | a0055c0143a0056c0142 | a0055c0143t0001a0056c0142t0007 | a0055c0143t0001g0007a0056c0142t0007g0006 | 2 | 249 | 0.0080 | 576 | c.829 others(585): Show |
p.Gly others(591): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8404/16756 | 8292/16239 | 2764/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195783431 | C | CACCTGTG others(569): Show |
conservative_inframe_insertion | MODERATE | HG03098.hp1 | a0049 | a0049c0145 | a0049c0145t0008 | a0049c0145t0008g0055 | 1 | 249 | 0.0040 | 576 | c.814 others(585): Show |
p.Gly others(591): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8260/16756 | 8148/16239 | 2716/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195783431 | C | CACCTGTG others(569): Show |
conservative_inframe_insertion | MODERATE | HG02257.hp1 HG02895.hp1 |
a0093a0094 | a0093c0179a0094c0178 | a0093c0179t0012a0094c0178t0004 | a0093c0179t0012g0236a0094c0178t0004g0235 | 2 | 249 | 0.0080 | 576 | c.814 others(585): Show |
p.Gly others(591): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8260/16756 | 8148/16239 | 2716/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195783634 | G | GCTGAGGA others(569): Show |
conservative_inframe_insertion | MODERATE | NA18906.hp1 | a0056 | a0056c0142 | a0056c0142t0007 | a0056c0142t0007g0006 | 1 | 249 | 0.0040 | 576 | c.794 others(585): Show |
p.Ser others(591): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8057/16756 | 7945/16239 | 2649/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195785586 | G | GGTGTGAC others(569): Show |
disruptive_inframe_insertion | MODERATE | HG02486.hp1 HG03688.hp1 |
a0050a0081 | a0050c0147a0081c0189 | a0050c0147t0004a0081c0189t0011 | a0050c0147t0004g0231a0081c0189t0011g0206 | 2 | 249 | 0.0080 | 576 | c.599 others(585): Show |
p.Ala others(591): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 6105/16756 | 5993/16239 | 1998/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195788098 | G | GCTGAGGA others(569): Show |
conservative_inframe_insertion | MODERATE | HG03041.hp1 | a0054 | a0054c0141 | a0054c0141t0001 | a0054c0141t0001g0069 | 1 | 249 | 0.0040 | 576 | c.348 others(585): Show |
p.Ser others(591): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3593/16756 | 3481/16239 | 1161/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195788371 | A | ACGTGACC others(569): Show |
conservative_inframe_insertion | MODERATE | HG01884.hp1 HG02451.hp2 HG02647.hp2 others(2): Show |
a0069a0070a0071others(2): Show | a0069c0172a0070c0174a0071c0175others(2): Show | a0069c0172t0005a0070c0174t0002a0071c0175t0005others(2): Show | a0069c0172t0005g0230a0070c0174t0002g0211a0071c0175t0005g0227others(2): Show | 5 | 249 | 0.0201 | 576 | c.320 others(585): Show |
p.His others(591): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3320/16756 | 3208/16239 | 1070/5412 | chr3 | TogoVar | ||
| NFATC1_chr18_79390930_79534323 | 79494230 | T | TGGCCGGG others(569): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03579.hp2 |
a0001 | a0001c0008a0001c0015 | a0001c0008t0005a0001c0015t0007 | a0001c0008t0005g0288a0001c0015t0007g0285 | 2 | 322 | 0.0062 | 576 | c.278 others(595): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| NFATC1_chr18_79390930_79534323 | 79494277 | A | ACGGCCGG others(569): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01081.hp2 HG01361.hp2 |
a0002 | a0002c0003a0002c0012a0002c0058 | a0002c0003t0010a0002c0012t0002a0002c0058t0001 | a0002c0003t0010g0270a0002c0012t0002g0292a0002c0058t0001g0256 | 3 | 322 | 0.0093 | 576 | c.278 others(595): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| NFATC1_chr18_79390930_79534323 | 79494297 | G | GCGGGCAC others(569): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0007 | a0007c0033 | a0007c0033t0026 | a0007c0033t0026g0101 | 1 | 322 | 0.0031 | 576 | c.278 others(595): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(569): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0259 | 1 | 362 | 0.0028 | 576 | c.-75 others(595): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
| NME4_chr16_392199_405754 | 397716 | G | GTGAGGGA others(569): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0161 | 1 | 356 | 0.0028 | 576 | c.91+ others(589): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NOTCH1_chr9_136489433_136551048 | 136535607 | G | GGTGCAGG others(569): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01496.hp2 |
a0001 | a0001c0003a0001c0008 | a0001c0003t0003a0001c0008t0009 | a0001c0003t0003g0319a0001c0008t0009g0318 | 2 | 324 | 0.0062 | 576 | c.140 others(593): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| NPDC1_chr9_137034463_137051177 | 137050176 | G | GACAAAGT others(569): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 402 | 0.0025 | 576 | c.-41 others(587): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4000 | chr9 | TogoVar | ||||||
| NRCAM_chr7_108142649_108461436 | 108299114 | A | AAAAAAAG others(569): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0024 | a0002c0024t0006 | a0002c0024t0006g0100 | 1 | 208 | 0.0048 | 576 | c.-10 others(597): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 3/32 | chr7 | TogoVar | ||||||
| NT5DC3_chr12_103767310_103846234 | 103768604 | G | GGGGAGGA others(569): Show |
downstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0005 | a0001c0005t0029 | a0001c0005t0029g0096 | 1 | 386 | 0.0026 | 576 | c.*92 others(587): Show |
NT5DC3 | ENSG00000111696.12 | transcript | ENST00000392876.8 | protein_coding | 3705 | chr12 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 841628 | A | AAGCAGGT others(569): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0078 | 1 | 242 | 0.0041 | 576 | c.361 others(595): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| OR11H4_chr14_20234286_20249349 | 20237654 | A | ATAGTATA others(569): Show |
upstream_gene_variant | MODIFIER | HG03710.hp1 HG04115.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0010t0001 | a0001c0001t0002g0236a0001c0010t0001g0235 | 2 | 439 | 0.0046 | 576 | c.-16 others(587): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1631 | chr14 | TogoVar | ||||||
| OR11H4_chr14_20234286_20249349 | 20237654 | A | ATAGTATA others(569): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG01358.hp1 HG01928.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0008a0002c0002t0001g0183a0002c0002t0001g0186 | 3 | 439 | 0.0068 | 576 | c.-16 others(587): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1631 | chr14 | TogoVar | ||||||
| OR11H4_chr14_20234286_20249349 | 20237654 | A | ATAGTATA others(569): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 439 | 0.0023 | 576 | c.-16 others(587): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1631 | chr14 | TogoVar | ||||||
| OR1F1_chr16_3183204_3211556 | 3197811 | A | AGGAGAGG others(569): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078a0001c0001t0002g0079 | 2 | 328 | 0.0061 | 576 | c.-12 others(593): Show |
OR1F1 | ENSG00000168124.3 | transcript | ENST00000304646.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| OTOG_chr11_17542259_17651044 | 17552549 | C | CCCCACCT others(569): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02922.hp2 NA18994.hp1 others(1): Show |
a0007a0072a0073 | a0007c0009a0072c0126a0073c0121 | a0007c0009t0002a0072c0126t0001a0073c0121t0001 | a0007c0009t0002g0189a0007c0009t0002g0192a0072c0126t0001g0191others(1): Show | 4 | 268 | 0.0149 | 576 | c.292 others(591): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |