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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NWD1_chr19_16714847_16822953 | 16777161 | AGGGAAAG others(20): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02015.hp2 HG02723.hp2 others(1): Show |
a0003a0017 | a0003c0003a0017c0021 | a0003c0003t0004a0017c0021t0001a0017c0021t0002 | a0003c0003t0004g0079a0017c0021t0001g0231a0017c0021t0002g0046others(1): Show | 4 | 300 | 0.0133 | -27 | c.260 others(46): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NWD2_chr4_37239743_37454463 | 37336932 | GAAACTCC others(20): Show |
G | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 296 | 0.0034 | -27 | c.240 others(46): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NXNL2_chr9_88530178_88549973 | 88548339 | CAAAAAAA others(20): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01975.hp2 HG02145.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0074 | 5 | 336 | 0.0149 | -27 | c.*37 others(38): Show |
NXNL2 | ENSG00000130045.17 | transcript | ENST00000375854.8 | protein_coding | 3367 | chr9 | TogoVar | ||||||
NXN_chr17_794310_984776 | 880302 | TATAAAAT others(20): Show |
T | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0173 | 1 | 242 | 0.0041 | -27 | c.361 others(46): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXPE1_chr11_114513934_114564881 | 114540837 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02735.hp2 HG02895.hp1 others(1): Show |
a0001a0003a0019 | a0001c0001a0003c0003a0019c0013 | a0001c0001t0002a0001c0001t0029a0003c0003t0006others(1): Show | a0001c0001t0002g0062a0001c0001t0029g0115a0003c0003t0006g0269others(1): Show | 4 | 360 | 0.0111 | -27 | c.100 others(44): Show |
NXPE1 | ENSG00000095110.9 | transcript | ENST00000534921.3 | protein_coding | 5/8 | chr11 | TogoVar | ||||||
NXPE2_chr11_114673527_114712069 | 114703672 | AGATAGAT others(20): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp2 HG01884.hp2 others(8): Show |
a0001a0002a0007 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0085a0001c0001t0001g0142a0001c0001t0001g0186others(8): Show | 11 | 428 | 0.0257 | -27 | c.867 others(42): Show |
NXPE2 | ENSG00000204361.10 | transcript | ENST00000389586.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NXPE2_chr11_114673527_114712069 | 114703691 | TAGATAGA others(20): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG02148.hp1 HG02622.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0018 | a0001c0001t0001a0002c0002t0001a0002c0018t0001 | a0001c0001t0001g0069a0002c0002t0001g0039a0002c0002t0001g0108others(7): Show | 10 | 428 | 0.0234 | -27 | c.867 others(42): Show |
NXPE2 | ENSG00000204361.10 | transcript | ENST00000389586.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NXPE3_chr3_101774211_101833231 | 101818739 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0111 | 1 | 380 | 0.0026 | -27 | c.112 others(46): Show |
NXPE3 | ENSG00000144815.18 | transcript | ENST00000273347.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NXPH1_chr7_8428609_8757961 | 8585326 | CCTGGGAG others(20): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02055.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0052others(17): Show | 20 | 208 | 0.0962 | -27 | c.54+ others(46): Show |
NXPH1 | ENSG00000122584.13 | transcript | ENST00000405863.6 | protein_coding | 2/2 | chr7 | TogoVar | ||||||
NYAP2_chr2_225394710_225708654 | 225622502 | TTTTCTTT others(20): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG03490.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0002 | a0001c0002t0001g0075a0001c0004t0002g0150 | 2 | 192 | 0.0104 | -27 | c.161 others(46): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
OBSCN_chr1_228203044_228383876 | 228372177 | GGGCTCCT others(20): Show |
G | conservative_inframe_deletion | MODERATE | NA21309.hp1 | a0094 | a0094c0077 | a0094c0077t0001 | a0094c0077t0001g0245 | 1 | 320 | 0.0031 | -27 | c.242 others(38): Show |
p.Ser others(15): Show |
OBSCN | ENSG00000154358.23 | transcript | ENST00000680850.1 | protein_coding | 105/116 | 24434/27019 | 24274/26778 | 8092/8925 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
ODAD2_chr10_27807168_28004079 | 27885520 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG03516.hp1 NA18522.hp2 NA18952.hp1 |
a0001a0003a0004 | a0001c0010a0003c0004a0004c0009 | a0001c0010t0002a0003c0004t0001a0004c0009t0002 | a0001c0010t0002g0199a0003c0004t0001g0232a0004c0009t0002g0271 | 3 | 304 | 0.0099 | -27 | c.261 others(48): Show |
ODAD2 | ENSG00000169126.16 | transcript | ENST00000305242.10 | protein_coding | 17/19 | chr10 | TogoVar | ||||||
ODAD2_chr10_27807168_28004079 | 27885524 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | NA18942.hp1 | a0019 | a0019c0022 | a0019c0022t0001 | a0019c0022t0001g0167 | 1 | 304 | 0.0033 | -27 | c.261 others(48): Show |
ODAD2 | ENSG00000169126.16 | transcript | ENST00000305242.10 | protein_coding | 17/19 | chr10 | TogoVar | ||||||
ODAD2_chr10_27807168_28004079 | 27885526 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG02109.hp1 HG02976.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0140a0001c0010t0001g0201a0001c0010t0001g0203 | 3 | 304 | 0.0099 | -27 | c.261 others(48): Show |
ODAD2 | ENSG00000169126.16 | transcript | ENST00000305242.10 | protein_coding | 17/19 | chr10 | TogoVar | ||||||
ODAD2_chr10_27807168_28004079 | 27885528 | AAAAAAAT others(20): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp2 |
a0001a0013 | a0001c0010a0013c0025 | a0001c0010t0002a0013c0025t0005 | a0001c0010t0002g0265a0013c0025t0005g0138 | 2 | 304 | 0.0066 | -27 | c.261 others(48): Show |
ODAD2 | ENSG00000169126.16 | transcript | ENST00000305242.10 | protein_coding | 17/19 | chr10 | TogoVar | ||||||
ODAD4_chr17_41925617_41971503 | 41944420 | ACACACAC others(20): Show |
A | intron_variant | MODIFIER | HG02738.hp1 NA18943.hp1 NA18992.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0206a0001c0001t0001g0261a0001c0001t0002g0107others(4): Show | 7 | 340 | 0.0206 | -27 | c.105 others(44): Show |
ODAD4 | ENSG00000204815.10 | transcript | ENST00000377540.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ODF1_chr8_102546589_102566018 | 102560760 | GCCCCTGC others(20): Show |
G | disruptive_inframe_deletion | MODERATE | HG02572.hp1 HG02717.hp2 NA19043.hp1 |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0026 | 3 | 460 | 0.0065 | -27 | c.647 others(34): Show |
p.Ser others(13): Show |
ODF1 | ENSG00000155087.4 | transcript | ENST00000285402.4 | protein_coding | 2/2 | 786/1026 | 647/753 | 216/250 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |
ODF1_chr8_102546589_102566018 | 102560782 | CTGCAACC others(20): Show |
C | disruptive_inframe_deletion | MODERATE | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(154): Show |
a0002a0005a0009others(3): Show | a0002c0002a0002c0013a0005c0005others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0013t0002others(5): Show | a0002c0002t0001g0015a0002c0002t0001g0040a0002c0002t0001g0111others(42): Show | 157 | 460 | 0.3413 | -27 | c.656 others(34): Show |
p.Asn others(13): Show |
ODF1 | ENSG00000155087.4 | transcript | ENST00000285402.4 | protein_coding | 2/2 | 795/1026 | 656/753 | 219/250 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |
ODF2_chr9_128451006_128506292 | 128455553 | CAAAAAAA others(20): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01167.hp1 HG01169.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056a0001c0001t0002g0058a0001c0001t0002g0093others(1): Show | 4 | 346 | 0.0116 | -27 | c.-53 others(36): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 452 | chr9 | TogoVar | ||||||
ODF2_chr9_128451006_128506292 | 128467009 | AAAAAAAT others(20): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0008 | 1 | 346 | 0.0029 | -27 | c.499 others(44): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ODF2_chr9_128451006_128506292 | 128497445 | AAATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG06807.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260a0001c0001t0001g0262a0001c0001t0001g0270 | 3 | 346 | 0.0087 | -27 | c.226 others(44): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ODF3B_chr22_50525426_50537498 | 50528979 | GGGGTGGG others(20): Show |
G | downstream_gene_variant | MODIFIER | HG02165.hp1 HG02280.hp1 HG03239.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005a0002c0002t0001g0012 | 7 | 406 | 0.0172 | -27 | c.*14 others(38): Show |
ODF3B | ENSG00000177989.14 | transcript | ENST00000329363.9 | protein_coding | 1446 | chr22 | TogoVar | ||||||
ODF3L2_chr19_458361_479983 | 459518 | CCTTCTCA others(20): Show |
C | downstream_gene_variant | MODIFIER | HG03139.hp1 | a0006 | a0006c0010 | a0006c0010t0004 | a0006c0010t0004g0058 | 1 | 324 | 0.0031 | -27 | c.*42 others(38): Show |
ODF3L2 | ENSG00000181781.10 | transcript | ENST00000315489.5 | protein_coding | 3842 | chr19 | TogoVar | ||||||
ODF3_chr11_191761_205258 | 191857 | CCTAACCC others(20): Show |
C | upstream_gene_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 388 | 0.0026 | -27 | c.-51 others(38): Show |
ODF3 | ENSG00000177947.15 | transcript | ENST00000325113.9 | protein_coding | 4903 | chr11 | TogoVar | ||||||
OPA1_chr3_193588208_193702811 | 193688444 | CTTTTCTT others(20): Show |
C | intron_variant | MODIFIER | NA19074.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0215 | 1 | 388 | 0.0026 | -27 | c.298 others(46): Show |
OPA1 | ENSG00000198836.11 | transcript | ENST00000361510.8 | protein_coding | 29/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
OPA1_chr3_193588208_193702811 | 193688449 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG02155.hp2 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0112 | 1 | 388 | 0.0026 | -27 | c.298 others(46): Show |
OPA1 | ENSG00000198836.11 | transcript | ENST00000361510.8 | protein_coding | 29/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
OPN5_chr6_47777032_47831381 | 47822401 | GCTATTGA others(20): Show |
G | intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0139 | 1 | 322 | 0.0031 | -27 | c.105 others(46): Show |
OPN5 | ENSG00000124818.16 | transcript | ENST00000371211.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
OR10A2_chr11_6858057_6879717 | 6866015 | ATATGTGT others(20): Show |
A | intron_variant | MODIFIER | NA19006.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0102 | 1 | 468 | 0.0021 | -27 | c.-13 others(46): Show |
OR10A2 | ENSG00000170790.6 | transcript | ENST00000641461.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OR1E2_chr17_3427870_3438841 | 3433409 | TGATGGCG others(20): Show |
T | conservative_inframe_deletion | MODERATE | HG01243.hp1 HG02145.hp1 HG02280.hp1 others(1): Show |
a0006 | a0006c0007 | a0006c0007t0000 | a0006c0007t0000g0000 | 4 | 448 | 0.0089 | -27 | c.406 others(34): Show |
p.Cys others(13): Show |
OR1E2 | ENSG00000127780.3 | transcript | ENST00000248384.1 | protein_coding | 1/1 | 432/972 | 406/972 | 136/323 | chr17 | TogoVar | ||
OR1F1_chr16_3183204_3211556 | 3197078 | GTTGGCCA others(20): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0283 | 1 | 328 | 0.0031 | -27 | c.-13 others(44): Show |
OR1F1 | ENSG00000168124.3 | transcript | ENST00000304646.3 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
OR1I1_chr19_15077211_15097970 | 15085145 | TATATATA others(20): Show |
T | intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0004 | a0002c0004t0075 | a0002c0004t0075g0142 | 1 | 456 | 0.0022 | -27 | c.-13 others(44): Show |
OR1I1 | ENSG00000094661.3 | transcript | ENST00000641398.1 | protein_coding | 1/1 | chr19 | TogoVar | ||||||
OR1R1P_chr17_3380930_3391874 | 3383967 | AAATATTT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(144): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0011a0001c0014others(5): Show | a0001c0001t0000a0001c0011t0000a0001c0014t0000others(5): Show | a0001c0001t0000g0000a0001c0011t0000g0000a0001c0014t0000g0000others(5): Show | 147 | 416 | 0.3534 | -27 | c.-19 others(38): Show |
OR1R1P | ENSG00000180042.5 | transcript | ENST00000572493.2 | protein_coding | 1962 | chr17 | TogoVar | ||||||
OR2AG1_chr11_6778020_6796558 | 6779187 | TATATATA others(20): Show |
T | upstream_gene_variant | MODIFIER | HG01346.hp2 HG01496.hp2 HG02004.hp1 others(1): Show |
a0001a0013 | a0001c0001a0013c0011 | a0001c0001t0004a0013c0011t0007 | a0001c0001t0004g0001a0013c0011t0007g0001 | 4 | 468 | 0.0086 | -27 | c.-43 others(38): Show |
OR2AG1 | ENSG00000279486.6 | transcript | ENST00000641258.1 | protein_coding | 3832 | chr11 | TogoVar | ||||||
OR2AG1_chr11_6778020_6796558 | 6779198 | ATATATAT others(20): Show |
A | upstream_gene_variant | MODIFIER | NA18955.hp2 NA19003.hp1 NA19091.hp2 |
a0003 | a0003c0003 | a0003c0003t0014a0003c0003t0017 | a0003c0003t0014g0004a0003c0003t0017g0004 | 3 | 468 | 0.0064 | -27 | c.-42 others(38): Show |
OR2AG1 | ENSG00000279486.6 | transcript | ENST00000641258.1 | protein_coding | 3821 | chr11 | TogoVar | ||||||
OR2AG1_chr11_6778020_6796558 | 6779200 | ATATATAT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG02027.hp2 HG02074.hp2 HG02129.hp1 others(11): Show |
a0001a0003a0009 | a0001c0001a0003c0003a0009c0017 | a0001c0001t0006a0003c0003t0006a0003c0003t0008others(1): Show | a0001c0001t0006g0004a0003c0003t0006g0004a0003c0003t0008g0004others(1): Show | 14 | 468 | 0.0299 | -27 | c.-42 others(38): Show |
OR2AG1 | ENSG00000279486.6 | transcript | ENST00000641258.1 | protein_coding | 3819 | chr11 | TogoVar | ||||||
OR2AG1_chr11_6778020_6796558 | 6779202 | ATATATAT others(20): Show |
A | upstream_gene_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0002 | 1 | 468 | 0.0021 | -27 | c.-42 others(38): Show |
OR2AG1 | ENSG00000279486.6 | transcript | ENST00000641258.1 | protein_coding | 3817 | chr11 | TogoVar | ||||||
OR2AG1_chr11_6778020_6796558 | 6779204 | ATATATAT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG03471.hp1 | a0006 | a0006c0005 | a0006c0005t0022 | a0006c0005t0022g0001 | 1 | 468 | 0.0021 | -27 | c.-42 others(38): Show |
OR2AG1 | ENSG00000279486.6 | transcript | ENST00000641258.1 | protein_coding | 3815 | chr11 | TogoVar | ||||||
OR2V2_chr5_181142586_181164285 | 181160724 | GTCACTGG others(20): Show |
G | downstream_gene_variant | MODIFIER | HG01975.hp1 HG02027.hp1 HG02080.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0019others(2): Show | a0001c0001t0003g0001a0001c0001t0005g0001a0001c0001t0019g0001others(2): Show | 6 | 424 | 0.0142 | -27 | c.*48 others(38): Show |
OR2V2 | ENSG00000182613.3 | transcript | ENST00000641492.1 | protein_coding | 1440 | chr5 | TogoVar | ||||||
OR2V2_chr5_181142586_181164285 | 181160814 | GTCACTGG others(20): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp1 others(44): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0006a0002c0002t0010others(12): Show | a0002c0002t0004g0003a0002c0002t0004g0014a0002c0002t0004g0017others(26): Show | 47 | 424 | 0.1109 | -27 | c.*49 others(38): Show |
OR2V2 | ENSG00000182613.3 | transcript | ENST00000641492.1 | protein_coding | 1530 | chr5 | TogoVar | ||||||
OR3A2_chr17_3271177_3391308 | 3383967 | AAATATTT others(20): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp1 others(98): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(20): Show | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0104others(95): Show | 101 | 318 | 0.3176 | -27 | c.-37 others(46): Show |
OR3A2 | ENSG00000221882.5 | transcript | ENST00000573901.3 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
OR4S1_chr11_48301223_48312152 | 48309149 | CTTTCACT others(20): Show |
C | downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 426 | 0.0024 | -27 | c.*19 others(38): Show |
OR4S1 | ENSG00000176555.1 | transcript | ENST00000319988.1 | protein_coding | 1998 | chr11 | TogoVar | ||||||
OR52B6_chr11_5575877_5586884 | 5581135 | GCCAGTGC others(20): Show |
G | disruptive_inframe_deletion | MODERATE | HG01243.hp1 | a0012 | a0012c0013 | a0012c0013t0000 | a0012c0013t0000g0000 | 1 | 454 | 0.0022 | -27 | c.263 others(34): Show |
p.Ser others(11): Show |
OR52B6 | ENSG00000187747.2 | transcript | ENST00000345043.2 | protein_coding | 1/1 | 263/1008 | 263/1008 | 88/335 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
OR52E2_chr11_5053650_5064627 | 5055465 | AAGTTCCC others(20): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02615.hp1 others(13): Show |
a0006 | a0006c0006 | a0006c0006t0000 | a0006c0006t0000g0000 | 16 | 450 | 0.0356 | -27 | c.*31 others(38): Show |
OR52E2 | ENSG00000176787.2 | transcript | ENST00000321522.2 | protein_coding | 3184 | chr11 | TogoVar | ||||||
OR7A10_chr19_14835466_14853922 | 14849363 | TTTCTTCT others(20): Show |
T | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01943.hp1 HG02155.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0016others(15): Show | 29 | 488 | 0.0594 | -27 | c.-90 others(36): Show |
OR7A10 | ENSG00000127515.3 | transcript | ENST00000641129.1 | protein_coding | 442 | chr19 | TogoVar | ||||||
OR7A17_chr19_14873203_14891132 | 14885682 | AAAATGGC others(20): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(140): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0069others(26): Show | a0001c0001t0002g0098a0001c0001t0009g0112a0001c0001t0069g0111others(38): Show | 143 | 444 | 0.3221 | -27 | c.-29 others(44): Show |
OR7A17 | ENSG00000185385.5 | transcript | ENST00000641113.1 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
OR8B2_chr11_124377394_124389499 | 124389093 | GGATTATA others(20): Show |
G | upstream_gene_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 444 | 0.0023 | -27 | c.-47 others(38): Show |
OR8B2 | ENSG00000284680.3 | transcript | ENST00000641451.2 | protein_coding | 4595 | chr11 | TogoVar | ||||||
OR9Q1_chr11_58018881_58186616 | 58037677 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0300 | 1 | 324 | 0.0031 | -27 | c.-93 others(46): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OR9Q1_chr11_58018881_58186616 | 58037679 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 324 | 0.0031 | -27 | c.-93 others(46): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OR9Q1_chr11_58018881_58186616 | 58037681 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01256.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0313a0001c0001t0002g0004a0001c0002t0001g0283others(8): Show | 12 | 324 | 0.0370 | -27 | c.-93 others(46): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OR9Q1_chr11_58018881_58186616 | 58037689 | ATTTTTTT others(20): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0163 | 1 | 324 | 0.0031 | -27 | c.-93 others(46): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |