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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OCSTAMP_chr20_46535946_46555654 | 46542574 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01515.hp2 others(18): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0001t0001g0196a0001c0002t0002g0097a0001c0002t0003g0059others(12): Show | 21 | 442 | 0.0475 | 9 | c.104 others(26): Show |
OCSTAMP | ENSG00000149635.3 | transcript | ENST00000279028.3 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
OCSTAMP_chr20_46535946_46555654 | 46555387 | C | CACACACA others(2): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG01109.hp2 HG01192.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0025a0001c0001t0001g0038others(3): Show | 6 | 442 | 0.0136 | 9 | c.-48 others(20): Show |
OCSTAMP | ENSG00000149635.3 | transcript | ENST00000279028.3 | protein_coding | 4734 | chr20 | TogoVar | ||||||
ODAD2_chr10_27807168_28004079 | 27885795 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(143): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0002a0001c0010others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0072a0001c0001t0001g0084a0001c0001t0001g0109others(143): Show | 146 | 304 | 0.4803 | 9 | c.261 others(30): Show |
ODAD2 | ENSG00000169126.16 | transcript | ENST00000305242.10 | protein_coding | 17/19 | chr10 | TogoVar | ||||||
ODAD2_chr10_27807168_28004079 | 27885797 | T | TATATAAA others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02109.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0021 | a0001c0001t0001a0001c0001t0004a0001c0021t0004 | a0001c0001t0001g0301a0001c0001t0004g0248a0001c0001t0004g0249others(1): Show | 4 | 304 | 0.0132 | 9 | c.261 others(30): Show |
ODAD2 | ENSG00000169126.16 | transcript | ENST00000305242.10 | protein_coding | 17/19 | chr10 | TogoVar | ||||||
ODAD4_chr17_41925617_41971503 | 41931909 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01106.hp1 HG01109.hp1 others(45): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0066a0001c0001t0001g0069a0001c0001t0001g0155others(44): Show | 48 | 340 | 0.1412 | 9 | c.114 others(26): Show |
ODAD4 | ENSG00000204815.10 | transcript | ENST00000377540.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ODAPH_chr4_75551066_75569817 | 75569499 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 HG02055.hp2 NA18962.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0030others(3): Show | 6 | 454 | 0.0132 | 9 | c.*50 others(20): Show |
ODAPH | ENSG00000174792.11 | transcript | ENST00000311623.9 | protein_coding | 4683 | chr4 | TogoVar | ||||||
ODF1_chr8_102546589_102566018 | 102547762 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(94): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(41): Show | 97 | 460 | 0.2109 | 9 | c.-39 others(20): Show |
ODF1 | ENSG00000155087.4 | transcript | ENST00000285402.4 | protein_coding | 3826 | chr8 | TogoVar | ||||||
ODF4_chr17_8334840_8351046 | 8339760 | T | TAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG02602.hp1 HG02622.hp2 others(6): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0004a0002c0001t0001g0008a0002c0001t0001g0034others(1): Show | 9 | 432 | 0.0208 | 9 | c.-29 others(18): Show |
ODF4 | ENSG00000184650.11 | transcript | ENST00000328248.7 | protein_coding | 79 | chr17 | TogoVar | ||||||
OGDHL_chr10_49729641_49767323 | 49742387 | C | CACACACC others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(127): Show |
a0001a0003a0007others(5): Show | a0001c0001a0001c0028a0003c0011others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0002g0001a0001c0001t0002g0005a0001c0001t0002g0010others(81): Show | 130 | 316 | 0.4114 | 9 | c.201 others(26): Show |
OGDHL | ENSG00000197444.10 | transcript | ENST00000374103.9 | protein_coding | 15/22 | chr10 | TogoVar | ||||||
OLA1_chr2_174067447_174253532 | 174219006 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01167.hp2 HG01517.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0002g0143a0001c0001t0002g0162a0001c0001t0004g0126others(13): Show | 16 | 262 | 0.0611 | 9 | c.373 others(26): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 4/10 | chr2 | TogoVar | ||||||
OLFM1_chr9_135082668_135126180 | 135124656 | G | GAGAGAGA others(2): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG01928.hp1 HG02148.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0003 | a0001c0001t0005g0090a0001c0001t0005g0284a0001c0002t0003g0014others(1): Show | 4 | 360 | 0.0111 | 9 | c.*44 others(20): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3477 | chr9 | TogoVar | ||||||
OLFM1_chr9_135082668_135126180 | 135124671 | G | GAGAGAGA others(2): Show |
downstream_gene_variant | MODIFIER | NA19012.hp2 NA19057.hp2 NA19087.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0151a0001c0002t0003g0219a0001c0002t0003g0241 | 3 | 360 | 0.0083 | 9 | c.*44 others(20): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3492 | chr9 | TogoVar | ||||||
OLFM2_chr19_9848718_9941515 | 9894376 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02698.hp2 HG03669.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0194a0001c0001t0001g0216a0001c0001t0001g0222others(5): Show | 8 | 342 | 0.0234 | 9 | c.64- others(26): Show |
OLFM2 | ENSG00000105088.9 | transcript | ENST00000264833.9 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
OLFM2_chr19_9848718_9941515 | 9894412 | T | TAATAATA others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0219a0001c0001t0001g0287a0001c0001t0001g0314others(3): Show | 6 | 342 | 0.0175 | 9 | c.64- others(26): Show |
OLFM2 | ENSG00000105088.9 | transcript | ENST00000264833.9 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
OLFM2_chr19_9848718_9941515 | 9904152 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG01175.hp2 HG03492.hp1 NA18955.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0002c0002t0001a0003c0004t0003 | a0001c0001t0002g0030a0002c0002t0001g0280a0003c0004t0003g0007 | 3 | 342 | 0.0088 | 9 | c.63+ others(26): Show |
OLFM2 | ENSG00000105088.9 | transcript | ENST00000264833.9 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
OLFM2_chr19_9848718_9941515 | 9919176 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01891.hp1 HG01978.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(1): Show | a0001c0001t0001g0144a0001c0001t0001g0306a0001c0001t0001g0318others(8): Show | 11 | 342 | 0.0322 | 9 | c.63+ others(26): Show |
OLFM2 | ENSG00000105088.9 | transcript | ENST00000264833.9 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
OLFM2_chr19_9848718_9941515 | 9938986 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG01081.hp2 HG01099.hp1 others(46): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(4): Show | a0001c0001t0001g0049a0001c0001t0001g0084a0001c0001t0001g0098others(46): Show | 49 | 342 | 0.1433 | 9 | c.-26 others(20): Show |
OLFM2 | ENSG00000105088.9 | transcript | ENST00000264833.9 | protein_coding | 2472 | chr19 | TogoVar | ||||||
OLFM3_chr1_101797560_102001926 | 101895970 | G | GTAATAAT others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03209.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0004 | a0001c0001t0001g0094a0001c0001t0003g0247a0001c0001t0003g0292others(1): Show | 4 | 306 | 0.0131 | 9 | c.70- others(26): Show |
OLFM3 | ENSG00000118733.17 | transcript | ENST00000370103.9 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
OLFM3_chr1_101797560_102001926 | 101991016 | A | AAAAATAT others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01358.hp2 HG01516.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0003g0235a0001c0001t0003g0262a0001c0001t0003g0263others(17): Show | 20 | 306 | 0.0654 | 9 | c.69+ others(24): Show |
OLFM3 | ENSG00000118733.17 | transcript | ENST00000370103.9 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
OLFM3_chr1_101797560_102001926 | 101991016 | A | AAATATAT others(2): Show |
intron_variant | MODIFIER | HG02155.hp2 HG03017.hp1 HG03209.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0089a0001c0001t0002g0097a0001c0001t0003g0234others(6): Show | 9 | 306 | 0.0294 | 9 | c.69+ others(24): Show |
OLFM3 | ENSG00000118733.17 | transcript | ENST00000370103.9 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
OLFML2A_chr9_124772133_124819882 | 124784943 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00642.hp1 others(19): Show |
a0001a0013 | a0001c0001a0001c0005a0013c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0169a0001c0001t0001g0208a0001c0001t0001g0300others(19): Show | 22 | 380 | 0.0579 | 9 | c.91- others(24): Show |
OLFML2A | ENSG00000185585.20 | transcript | ENST00000373580.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OMA1_chr1_58475719_58551726 | 58518264 | A | AGGGGAGA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp1 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0004others(2): Show | a0001c0001t0001a0002c0003t0001a0003c0004t0001others(2): Show | a0001c0001t0001g0232a0001c0001t0001g0233a0001c0001t0001g0237others(20): Show | 24 | 384 | 0.0625 | 9 | c.121 others(28): Show |
OMA1 | ENSG00000162600.12 | transcript | ENST00000371226.8 | protein_coding | 7/8 | chr1 | TogoVar | ||||||
OMA1_chr1_58475719_58551726 | 58541293 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01928.hp1 HG02148.hp2 others(4): Show |
a0001a0009 | a0001c0001a0009c0010 | a0001c0001t0001a0009c0010t0001 | a0001c0001t0001g0170a0001c0001t0001g0171a0001c0001t0001g0190others(4): Show | 7 | 384 | 0.0182 | 9 | c.-16 others(26): Show |
OMA1 | ENSG00000162600.12 | transcript | ENST00000371226.8 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
OMG_chr17_31289647_31302239 | 31293178 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG01255.hp2 HG01516.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 9 | 364 | 0.0247 | 9 | c.*18 others(20): Show |
OMG | ENSG00000126861.5 | transcript | ENST00000247271.5 | protein_coding | 1468 | chr17 | TogoVar | ||||||
ONECUT1_chr15_52750053_52795336 | 52777737 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02135.hp1 HG02273.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0045 | a0001c0001t0001g0014a0001c0001t0001g0056a0001c0001t0001g0063others(5): Show | 9 | 412 | 0.0218 | 9 | c.110 others(30): Show |
ONECUT1 | ENSG00000169856.9 | transcript | ENST00000305901.7 | protein_coding | 1/1 | chr15 | TogoVar | ||||||
ONECUT1_chr15_52750053_52795336 | 52777737 | C | CACAAAAA others(2): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02922.hp2 HG02970.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0007a0001c0003t0032 | a0001c0001t0001g0044a0001c0001t0007g0357a0001c0001t0007g0358others(1): Show | 4 | 412 | 0.0097 | 9 | c.110 others(30): Show |
ONECUT1 | ENSG00000169856.9 | transcript | ENST00000305901.7 | protein_coding | 1/1 | chr15 | TogoVar | ||||||
ONECUT1_chr15_52750053_52795336 | 52777737 | C | CACACACA others(2): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02886.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0003g0016others(4): Show | 9 | 412 | 0.0218 | 9 | c.110 others(30): Show |
ONECUT1 | ENSG00000169856.9 | transcript | ENST00000305901.7 | protein_coding | 1/1 | chr15 | TogoVar | ||||||
ONECUT1_chr15_52750053_52795336 | 52777737 | C | CACACACA others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02896.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0024 | a0001c0001t0012g0039a0001c0001t0012g0040a0001c0001t0012g0041others(2): Show | 6 | 412 | 0.0146 | 9 | c.110 others(30): Show |
ONECUT1 | ENSG00000169856.9 | transcript | ENST00000305901.7 | protein_coding | 1/1 | chr15 | TogoVar | ||||||
ONECUT1_chr15_52750053_52795336 | 52794319 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG02080.hp1 HG02523.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0061 | a0001c0001t0001g0015a0001c0001t0001g0052a0001c0001t0001g0053others(5): Show | 10 | 412 | 0.0243 | 9 | c.-44 others(20): Show |
ONECUT1 | ENSG00000169856.9 | transcript | ENST00000305901.7 | protein_coding | 3984 | chr15 | TogoVar | ||||||
ONECUT2_chr18_57430374_57496298 | 57435672 | G | GGCCGCCC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02615.hp1 HG02818.hp2 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0058a0001c0002t0059a0001c0002t0060 | a0001c0002t0058g0021a0001c0002t0059g0021a0001c0002t0060g0114 | 3 | 400 | 0.0075 | 9 | c.-25 others(16): Show |
ONECUT2 | ENSG00000119547.6 | transcript | ENST00000491143.3 | protein_coding | 1/2 | 16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||
ONECUT2_chr18_57430374_57496298 | 57477268 | C | CATAACAT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(381): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(141): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(349): Show | 384 | 400 | 0.9600 | 9 | c.*54 others(18): Show |
ONECUT2 | ENSG00000119547.6 | transcript | ENST00000491143.3 | protein_coding | 2/2 | 547 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||
ONECUT3_chr19_1748506_1785988 | 1769056 | T | TGGAAGTG others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01081.hp1 HG01109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0216a0001c0001t0217others(6): Show | a0001c0001t0037g0006a0001c0001t0216g0061a0001c0001t0217g0051others(6): Show | 10 | 370 | 0.0270 | 9 | c.119 others(28): Show |
ONECUT3 | ENSG00000205922.5 | transcript | ENST00000382349.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ONECUT3_chr19_1748506_1785988 | 1781597 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG00741.hp1 others(20): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0006a0001c0011others(3): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0046others(20): Show | a0001c0001t0004g0058a0001c0001t0006g0158a0001c0001t0046g0112others(20): Show | 23 | 370 | 0.0622 | 9 | c.*61 others(20): Show |
ONECUT3 | ENSG00000205922.5 | transcript | ENST00000382349.5 | protein_coding | 610 | chr19 | TogoVar | ||||||
OOSP2_chr11_60035409_60053044 | 60041850 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG01123.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013a0001c0001t0001g0023a0001c0001t0001g0037others(16): Show | 33 | 198 | 0.1667 | 9 | c.64+ others(24): Show |
OOSP2 | ENSG00000149507.7 | transcript | ENST00000278855.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OPA1_chr3_193588208_193702811 | 193596346 | C | CTTTTCTT others(2): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01928.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0015 | a0002c0002t0001g0138a0002c0002t0015g0137a0002c0002t0015g0239 | 3 | 388 | 0.0077 | 9 | c.32+ others(24): Show |
OPA1 | ENSG00000198836.11 | transcript | ENST00000361510.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
OPA1_chr3_193588208_193702811 | 193604860 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02074.hp1 HG02155.hp2 others(11): Show |
a0002a0003 | a0002c0008a0003c0004 | a0002c0008t0005a0002c0008t0013a0003c0004t0006 | a0002c0008t0005g0253a0002c0008t0013g0118a0002c0008t0013g0124others(11): Show | 14 | 388 | 0.0361 | 9 | c.33- others(24): Show |
OPA1 | ENSG00000198836.11 | transcript | ENST00000361510.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
OPALIN_chr10_96338221_96364002 | 96358186 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00609.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(3): Show | a0001c0001t0001g0202a0001c0001t0001g0203a0001c0001t0001g0204others(12): Show | 21 | 402 | 0.0522 | 9 | c.3+6 others(20): Show |
OPALIN | ENSG00000197430.11 | transcript | ENST00000371172.8 | protein_coding | 1/5 | chr10 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 132818660 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03130.hp1 HG03209.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0001g0028a0001c0001t0003g0016a0001c0001t0009g0060others(3): Show | 6 | 68 | 0.0882 | 9 | c.146 others(30): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 2/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 132954126 | T | TTTTTGTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01071.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0013a0001c0001t0001g0028a0001c0001t0001g0034others(34): Show | 37 | 68 | 0.5441 | 9 | c.62- others(26): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133140186 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011 | a0001c0001t0009g0064a0001c0001t0011g0057 | 2 | 68 | 0.0294 | 9 | c.62- others(28): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133140531 | T | TAAGAAGA others(2): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01496.hp1 HG01891.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008 | a0001c0001t0002g0022a0001c0001t0003g0030a0001c0001t0008g0010 | 3 | 68 | 0.0441 | 9 | c.62- others(28): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133181361 | A | ACGGGGGT others(2): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01192.hp2 HG01496.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0015a0001c0001t0001g0028a0001c0001t0002g0019others(11): Show | 14 | 68 | 0.2059 | 9 | c.62- others(28): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133236880 | G | GGACATAG others(2): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01258.hp1 HG01496.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0011a0001c0001t0003g0031a0001c0001t0006g0005others(4): Show | 7 | 68 | 0.1029 | 9 | c.62- others(28): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68086181 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00609.hp1 others(60): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0016others(60): Show | 63 | 155 | 0.4065 | 9 | c.168 others(30): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 19/24 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68287157 | G | GAAAGAAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0008a0001c0001t0022g0103 | 2 | 155 | 0.0129 | 9 | c.251 others(26): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 3/24 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68370011 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0072 | 1 | 155 | 0.0065 | 9 | c.154 others(28): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68393885 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG04199.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0027 | a0001c0001t0001g0149a0001c0001t0003g0063a0001c0001t0027g0072 | 3 | 155 | 0.0194 | 9 | c.154 others(28): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | ||||||
OPHN1_chrX_68037344_68438495 | 68426699 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01169.hp2 HG01515.hp1 others(6): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0025a0001c0001t0003g0035a0001c0001t0003g0101others(6): Show | 9 | 155 | 0.0581 | 9 | c.154 others(26): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | ||||||
OPN1MW3_chrX_154252582_154276090 | 154255846 | T | TGGTGGCT others(2): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0004 | 1 | 7 | 0.1429 | 9 | c.-17 others(20): Show |
OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1735 | chrX | TogoVar | ||||||
OPRL1_chr20_64075082_64105633 | 64094174 | T | TGTGGGGG others(2): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007a0001c0001t0003g0039 | 3 | 66 | 0.0455 | 9 | c.233 others(26): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |