| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NXPE1_chr11_114513934_114564881 | 114540837 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0200 | 1 | 360 | 0.0028 | -17 | c.100 others(34): Show |
NXPE1 | ENSG00000095110.9 | transcript | ENST00000534921.3 | protein_coding | 5/8 | chr11 | TogoVar | ||||||
| NXPE3_chr3_101774211_101833231 | 101831537 | GGAACAAC others(10): Show |
G | downstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 380 | 0.0026 | -17 | c.*95 others(28): Show |
NXPE3 | ENSG00000144815.18 | transcript | ENST00000273347.10 | protein_coding | 3307 | chr3 | TogoVar | ||||||
| NXPH1_chr7_8428609_8757961 | 8443707 | AATGCAGA others(10): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0111 | 1 | 208 | 0.0048 | -17 | c.54+ others(32): Show |
NXPH1 | ENSG00000122584.13 | transcript | ENST00000405863.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| NYAP1_chr7_100478927_100499802 | 100492969 | CAAGCAAG others(10): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0024 | 1 | 366 | 0.0027 | -17 | c.226 others(34): Show |
NYAP1 | ENSG00000166924.9 | transcript | ENST00000300179.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| NYAP2_chr2_225394710_225708654 | 225538773 | TTTTCTTT others(10): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0125 | 1 | 192 | 0.0052 | -17 | c.523 others(36): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| NYAP2_chr2_225394710_225708654 | 225665807 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0130 | 1 | 192 | 0.0052 | -17 | c.193 others(38): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| NYAP2_chr2_225394710_225708654 | 225704812 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG01978.hp1 HG02135.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0052a0001c0002t0002g0130 | 2 | 192 | 0.0104 | -17 | c.*62 others(28): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 1159 | chr2 | TogoVar | ||||||
| OAT_chr10_124392303_124423923 | 124408329 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02486.hp1 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189a0001c0001t0002g0243 | 2 | 382 | 0.0052 | -17 | c.520 others(32): Show |
OAT | ENSG00000065154.12 | transcript | ENST00000368845.6 | protein_coding | 4/9 | chr10 | TogoVar | ||||||
| OAT_chr10_124392303_124423923 | 124411148 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059 | 1 | 382 | 0.0026 | -17 | c.199 others(32): Show |
OAT | ENSG00000065154.12 | transcript | ENST00000368845.6 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
| OCLN_chr5_69487790_69563104 | 69516494 | AGGGAGAG others(10): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0007 | a0001c0007t0036 | a0001c0007t0036g0270 | 1 | 290 | 0.0035 | -17 | c.891 others(34): Show |
OCLN | ENSG00000197822.12 | transcript | ENST00000396442.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ODAD2_chr10_27807168_28004079 | 27943795 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01884.hp1 NA19240.hp1 |
a0001 | a0001c0002a0001c0020 | a0001c0002t0001a0001c0020t0002 | a0001c0002t0001g0003a0001c0002t0001g0261a0001c0020t0002g0002 | 3 | 304 | 0.0099 | -17 | c.174 others(34): Show |
ODAD2 | ENSG00000169126.16 | transcript | ENST00000305242.10 | protein_coding | 12/19 | chr10 | TogoVar | ||||||
| ODAD4_chr17_41925617_41971503 | 41944428 | ACACACAC others(10): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG02683.hp1 HG02698.hp1 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005a0001c0002t0001g0189a0001c0002t0001g0257others(14): Show | 18 | 340 | 0.0529 | -17 | c.105 others(34): Show |
ODAD4 | ENSG00000204815.10 | transcript | ENST00000377540.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ODAD4_chr17_41925617_41971503 | 41944430 | ACACACAC others(10): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG00733.hp2 HG01069.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029a0001c0002t0001g0271a0001c0002t0001g0273others(9): Show | 12 | 340 | 0.0353 | -17 | c.105 others(34): Show |
ODAD4 | ENSG00000204815.10 | transcript | ENST00000377540.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ODF2L_chr1_86341837_86401323 | 86378106 | TTTCTGAT others(10): Show |
T | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0138a0001c0003t0001g0150 | 2 | 406 | 0.0049 | -17 | c.625 others(34): Show |
ODF2L | ENSG00000122417.16 | transcript | ENST00000460698.7 | protein_coding | 7/16 | chr1 | TogoVar | ||||||
| ODF2_chr9_128451006_128506292 | 128455553 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG00609.hp2 HG01099.hp2 HG01361.hp1 others(21): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0004a0001c0001t0001g0300a0001c0001t0001g0321others(20): Show | 24 | 346 | 0.0694 | -17 | c.-53 others(26): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 452 | chr9 | TogoVar | ||||||
| ODF2_chr9_128451006_128506292 | 128467001 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 346 | 0.0029 | -17 | c.499 others(34): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| ODF2_chr9_128451006_128506292 | 128467003 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002a0001c0001t0004g0196 | 3 | 346 | 0.0087 | -17 | c.499 others(34): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| ODF2_chr9_128451006_128506292 | 128467005 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0194 | 1 | 346 | 0.0029 | -17 | c.499 others(34): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| ODF2_chr9_128451006_128506292 | 128467007 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | NA18956.hp1 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0314a0001c0001t0002g0009 | 2 | 346 | 0.0058 | -17 | c.499 others(34): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| ODF2_chr9_128451006_128506292 | 128467009 | AAAAAAAT others(10): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG01884.hp1 HG02647.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0198a0001c0001t0001g0225a0001c0001t0001g0255others(4): Show | 7 | 346 | 0.0202 | -17 | c.499 others(34): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| ODF2_chr9_128451006_128506292 | 128467011 | AAAAATAT others(10): Show |
A | intron_variant | MODIFIER | HG02135.hp2 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273a0001c0001t0001g0283 | 2 | 346 | 0.0058 | -17 | c.499 others(34): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| ODF2_chr9_128451006_128506292 | 128494466 | ACTGTGGG others(10): Show |
A | splice_region_variant others(1): Show |
LOW | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155 | 1 | 346 | 0.0029 | -17 | c.200 others(31): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| OGDH_chr7_44601627_44714066 | 44677526 | GGCCGGCC others(10): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0073 | 1 | 306 | 0.0033 | -17 | c.120 others(36): Show |
OGDH | ENSG00000105953.16 | transcript | ENST00000222673.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| OGG1_chr3_9744952_9762407 | 9761341 | TGGAAGGA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0008 | 1 | 442 | 0.0023 | -17 | c.*41 others(28): Show |
OGG1 | ENSG00000114026.22 | transcript | ENST00000344629.12 | protein_coding | 3935 | chr3 | TogoVar | ||||||
| OLA1_chr2_174067447_174253532 | 174091869 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG04184.hp2 NA18963.hp2 NA18983.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0020 | a0001c0001t0002g0140a0001c0001t0002g0165a0001c0001t0002g0206others(4): Show | 7 | 262 | 0.0267 | -17 | c.729 others(34): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 7/10 | chr2 | TogoVar | ||||||
| OLA1_chr2_174067447_174253532 | 174095333 | TTTTTTTT others(10): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02895.hp1 HG02897.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0008a0002c0002t0017a0002c0002t0029others(1): Show | a0002c0002t0008g0039a0002c0002t0008g0040a0002c0002t0017g0006others(4): Show | 7 | 262 | 0.0267 | -17 | c.729 others(36): Show |
OLA1 | ENSG00000138430.16 | transcript | ENST00000284719.8 | protein_coding | 7/10 | chr2 | TogoVar | ||||||
| OLFM1_chr9_135082668_135126180 | 135112360 | GTTCTCTC others(10): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01070.hp2 others(62): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0002g0140a0001c0001t0002g0141a0001c0001t0002g0145others(60): Show | 65 | 360 | 0.1806 | -17 | c.783 others(34): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| OLFM1_chr9_135082668_135126180 | 135124560 | GGGCAGGG others(10): Show |
G | downstream_gene_variant | MODIFIER | HG03491.hp1 HG03669.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0318a0001c0001t0002g0184a0001c0001t0002g0185 | 3 | 360 | 0.0083 | -17 | c.*43 others(28): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3381 | chr9 | TogoVar | ||||||
| OLFM2_chr19_9848718_9941515 | 9873796 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232 | 1 | 342 | 0.0029 | -17 | c.64- others(34): Show |
OLFM2 | ENSG00000105088.9 | transcript | ENST00000264833.9 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
| OLFM2_chr19_9848718_9941515 | 9901036 | GGGGAGGG others(10): Show |
G | intron_variant | MODIFIER | HG00741.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0073 | 1 | 342 | 0.0029 | -17 | c.63+ others(34): Show |
OLFM2 | ENSG00000105088.9 | transcript | ENST00000264833.9 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
| OLFM2_chr19_9848718_9941515 | 9919013 | CTGTAAAT others(10): Show |
C | intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 342 | 0.0029 | -17 | c.63+ others(34): Show |
OLFM2 | ENSG00000105088.9 | transcript | ENST00000264833.9 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
| OLIG2_chr21_33020935_33034185 | 33031641 | AAAAAAAA others(10): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(205): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(16): Show | a0001c0001t0001g0001a0001c0001t0003g0001a0001c0001t0003g0005others(22): Show | 208 | 448 | 0.4643 | -17 | c.*38 others(28): Show |
OLIG2 | ENSG00000205927.5 | transcript | ENST00000382357.4 | protein_coding | 2457 | chr21 | TogoVar | ||||||
| OMA1_chr1_58475719_58551726 | 58541293 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 384 | 0.0026 | -17 | c.-16 others(34): Show |
OMA1 | ENSG00000162600.12 | transcript | ENST00000371226.8 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
| OMG_chr17_31289647_31302239 | 31293178 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG03139.hp2 HG03209.hp2 NA19240.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 | 3 | 364 | 0.0082 | -17 | c.*18 others(28): Show |
OMG | ENSG00000126861.5 | transcript | ENST00000247271.5 | protein_coding | 1468 | chr17 | TogoVar | ||||||
| ONECUT1_chr15_52750053_52795336 | 52754104 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(236): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(216): Show | 239 | 412 | 0.5801 | -17 | c.*34 others(28): Show |
ONECUT1 | ENSG00000169856.9 | transcript | ENST00000305901.7 | protein_coding | 948 | chr15 | TogoVar | ||||||
| OOSP2_chr11_60035409_60053044 | 60046135 | TGTCTCTC others(10): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0027a0001c0001t0001g0046others(1): Show | 8 | 198 | 0.0404 | -17 | c.348 others(32): Show |
OOSP2 | ENSG00000149507.7 | transcript | ENST00000278855.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| OPALIN_chr10_96338221_96364002 | 96355096 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG02723.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0046a0001c0001t0012g0100 | 3 | 402 | 0.0075 | -17 | c.39+ others(30): Show |
OPALIN | ENSG00000197430.11 | transcript | ENST00000371172.8 | protein_coding | 2/5 | chr10 | TogoVar | ||||||
| OPALIN_chr10_96338221_96364002 | 96362951 | CTAATTTT others(10): Show |
C | upstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0014 | 1 | 402 | 0.0025 | -17 | c.-40 others(28): Show |
OPALIN | ENSG00000197430.11 | transcript | ENST00000371172.8 | protein_coding | 3950 | chr10 | TogoVar | ||||||
| OPCML_chr11_132409981_133537501 | 132620102 | CCACTGTG others(10): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01884.hp1 HG02976.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0003g0031a0001c0001t0004g0027a0001c0001t0008g0004others(5): Show | 8 | 68 | 0.1177 | -17 | c.379 others(36): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 3/7 | chr11 | TogoVar | ||||||
| OPCML_chr11_132409981_133537501 | 132654595 | TCAAGAGA others(10): Show |
T | intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0012 | 1 | 68 | 0.0147 | -17 | c.379 others(34): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 3/7 | chr11 | TogoVar | ||||||
| OPCML_chr11_132409981_133537501 | 132694179 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 68 | 0.0147 | -17 | c.147 others(36): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 2/7 | chr11 | TogoVar | ||||||
| OPCML_chr11_132409981_133537501 | 133260664 | GAAACTAA others(10): Show |
G | intron_variant | MODIFIER | HG03041.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011 | a0001c0001t0006g0006a0001c0001t0011g0056 | 2 | 68 | 0.0294 | -17 | c.61+ others(36): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
| OPN1SW_chr7_128767485_128780794 | 128772058 | TTTTTGTT others(10): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(46): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0003c0004t0001 | a0001c0002t0001g0005a0001c0002t0001g0006a0001c0002t0001g0017others(4): Show | 49 | 388 | 0.1263 | -17 | c.*46 others(26): Show |
OPN1SW | ENSG00000128617.3 | transcript | ENST00000249389.3 | protein_coding | 426 | chr7 | TogoVar | ||||||
| OPN3_chr1_241588124_241645369 | 241592770 | CTATCTAT others(10): Show |
C | downstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 410 | 0.0024 | -17 | c.*16 others(28): Show |
OPN3 | ENSG00000054277.14 | transcript | ENST00000366554.3 | protein_coding | 353 | chr1 | TogoVar | ||||||
| OPN3_chr1_241588124_241645369 | 241607559 | GGAAGAAA others(10): Show |
G | intron_variant | MODIFIER | NA18948.hp1 NA18993.hp2 NA19000.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0091 | 4 | 410 | 0.0098 | -17 | c.374 others(34): Show |
OPN3 | ENSG00000054277.14 | transcript | ENST00000366554.3 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
| OPN3_chr1_241588124_241645369 | 241607560 | GAAGAAAG others(10): Show |
G | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 410 | 0.0024 | -17 | c.374 others(34): Show |
OPN3 | ENSG00000054277.14 | transcript | ENST00000366554.3 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
| OPN3_chr1_241588124_241645369 | 241644251 | TGGTGTGG others(10): Show |
T | upstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0036 | 1 | 410 | 0.0024 | -17 | c.-40 others(28): Show |
OPN3 | ENSG00000054277.14 | transcript | ENST00000366554.3 | protein_coding | 3883 | chr1 | TogoVar | ||||||
| OPRPN_chr4_70392940_70415195 | 70411734 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00642.hp2 others(71): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0002a0001c0001t0001g0023a0001c0001t0001g0024others(6): Show | 74 | 456 | 0.1623 | -17 | c.*16 others(28): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 1540 | chr4 | TogoVar | ||||||
| OR10AD1_chr12_48197339_48208292 | 48207769 | CTTTTTTT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 414 | 0.0024 | -17 | c.-44 others(28): Show |
OR10AD1 | ENSG00000172640.4 | transcript | ENST00000310248.4 | protein_coding | 4478 | chr12 | TogoVar | ||||||
| OR11H2_chr14_19707936_19718883 | 19708325 | TTTCTAGT others(10): Show |
T | downstream_gene_variant | MODIFIER | NA18997.hp1 | a0005 | a0005c0005 | a0005c0005t0000 | a0005c0005t0000g0000 | 1 | 238 | 0.0042 | -17 | c.*45 others(28): Show |
OR11H2 | ENSG00000258453.4 | transcript | ENST00000556246.3 | protein_coding | 4610 | chr14 | TogoVar |