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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MON2_chr12_62461826_62605476 | 62578430 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(145): Show |
a0001a0002a0007others(3): Show | a0001c0002a0001c0006a0001c0009others(7): Show | a0001c0002t0031a0001c0006t0003a0001c0006t0007others(20): Show | a0001c0002t0031g0136 a0001c0006t0003g0005 a0001c0006t0003g0006 others(143): Show |
148 | 365 | 0.4055 | 1 | c.451 others(7): Show |
MON2 | ENSG00000061987.16 | transcript | ENST00000393630.8 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MROH6_chr8_143561192_143577772 | 143569978 | A | AGGCTGCG others(9): Show |
frameshift_variant | HIGH | HG02809.hp1 HG03098.hp1 HG03130.hp2 |
a0011a0023a0024 | a0011c0040a0023c0037a0024c0046 | a0011c0040t0001a0023c0037t0001a0024c0046t0001 | a0011c0040t0001g0057 a0023c0037t0001g0132 a0024c0046t0001g0067 |
3 | 436 | 0.0069 | 16 | c.113 others(25): Show |
p.Leu others(5): Show |
MROH6 | ENSG00000204839.9 | transcript | ENST00000398882.8 | protein_coding | 7/14 | 1188/3265 | 1130/2160 | 377/719 | chr8 | TogoVar | |||
MUC5B_chr11_1218066_1267172 | 1245031 | AGTGCTGA others(79): Show |
A | frameshift_variant | HIGH | HG03130.hp1 | a0104 | a0104c0112 | a0104c0112t0003 | a0104c0112t0003g0172 | 1 | 348 | 0.0029 | -86 | c.815 others(95): Show |
p.Val others(6): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 8210/17911 | 8152/17289 | 2718/5762 | chr11 | TogoVar | |||
MUC5B_chr11_1218066_1267172 | 1247131 | AGTGCTGA others(79): Show |
A | frameshift_variant | HIGH | HG03130.hp1 | a0104 | a0104c0112 | a0104c0112t0003 | a0104c0112t0003g0172 | 1 | 348 | 0.0029 | -86 | c.102 others(97): Show |
p.Val others(6): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 10310/17911 | 10252/17289 | 3418/5762 | chr11 | TogoVar | |||
MUC5B_chr11_1218066_1267172 | 1248802 | AGTGCTGA others(79): Show |
A | frameshift_variant | HIGH | HG03130.hp1 | a0104 | a0104c0112 | a0104c0112t0003 | a0104c0112t0003g0172 | 1 | 348 | 0.0029 | -86 | c.119 others(97): Show |
p.Val others(6): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 11981/17911 | 11923/17289 | 3975/5762 | chr11 | TogoVar | |||
MUC7_chr4_70467197_70487997 | 70474006 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(69): Show |
a0002a0007 | a0002c0002a0007c0010 | a0002c0002t0004a0002c0002t0008a0007c0010t0004 | a0002c0002t0004g0005 a0002c0002t0004g0010 a0002c0002t0004g0013 others(14): Show |
72 | 434 | 0.1659 | 0 | c.-15 others(5): Show |
MUC7 | ENSG00000171195.11 | transcript | ENST00000304887.6 | protein_coding | 1/2 | chr4 | TogoVar | |||||||
NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6271): Show |
frameshift_variant others(1): Show |
HIGH | HG03130.hp2 | a0084 | a0084c0145 | a0084c0145t0007 | a0084c0145t0007g0259 | 1 | 263 | 0.0038 | 6278 | c.109 others(6289): Show |
p.Tyr others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | |||
NBPF10_chr1_146059711_146149804 | 146126409 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(155): Show |
a0002a0006a0007others(78): Show | a0002c0001a0006c0004a0006c0019others(83): Show | a0002c0001t0001a0002c0001t0021a0002c0001t0022others(86): Show | a0002c0001t0001g0003 a0002c0001t0001g0004 a0002c0001t0001g0024 others(145): Show |
158 | 282 | 0.5603 | 0 | c.185 others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 13/89 | chr1 | TogoVar | |||||||
NBPF12_chr1_146933324_147001198 | 146970102 | GGTGTGGT others(6282): Show |
G | exon_loss_variant | HIGH | HG02965.hp1 HG03098.hp1 HG03130.hp2 |
a0007 | a0007c0008 | a0007c0008t0012a0007c0008t0015 | a0007c0008t0012g0107 a0007c0008t0012g0108 a0007c0008t0015g0106 |
3 | 120 | 0.0250 | -6289 | c.130 others(17): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 15/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF12_chr1_146933324_147001198 | 146988687 | CGACCAGC others(4751): Show |
C | exon_loss_variant | HIGH | HG00544.hp2 HG03130.hp2 |
a0001a0007 | a0001c0013a0007c0008 | a0001c0013t0002a0007c0008t0012 | a0001c0013t0002g0089 a0007c0008t0012g0108 |
2 | 118 | 0.0169 | -4758 | c.339 others(15): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF8_chr1_120410035_120474676 | 120436638 | AAG | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(85): Show |
a0002a0006a0008others(4): Show | a0002c0001a0002c0031a0006c0007others(5): Show | a0002c0001t0002a0002c0001t0008a0002c0001t0015others(22): Show | a0002c0001t0002g0001 a0002c0001t0002g0014 a0002c0001t0002g0015 others(82): Show |
88 | 290 | 0.3034 | -2 | c.122 others(9): Show |
p.Arg others(4): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 4/23 | 1094/7256 | 122/2829 | 41/942 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
NBPF8_chr1_120410035_120474676 | 120440741 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(85): Show |
a0002a0006a0008others(4): Show | a0002c0001a0002c0031a0006c0007others(5): Show | a0002c0001t0002a0002c0001t0008a0002c0001t0015others(22): Show | a0002c0001t0002g0001 a0002c0001t0002g0014 a0002c0001t0002g0015 others(82): Show |
88 | 290 | 0.3034 | 0 | c.494 others(5): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 6/22 | chr1 | TogoVar | |||||||
NBPF8_chr1_120410035_120474676 | 120466107 | C | G | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(56): Show |
a0002a0013 | a0002c0001a0002c0031a0013c0025 | a0002c0001t0002a0002c0001t0008a0002c0001t0015others(9): Show | a0002c0001t0002g0001 a0002c0001t0002g0014 a0002c0001t0002g0015 others(54): Show |
59 | 290 | 0.2034 | 0 | c.271 others(4): Show |
p.Tyr others(4): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 23/23 | 3687/7256 | 2715/2829 | 905/942 | chr1 | TogoVar | |||
NEO1_chr15_73047463_73310205 | 73260253 | T | TCCACTTT others(6): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG02135.hp2 HG03130.hp1 HG03453.hp2 others(6): Show |
a0001a0002 | a0001c0005a0001c0021a0002c0006 | a0001c0005t0003a0001c0021t0003a0002c0006t0003 | a0001c0005t0003g0120 a0001c0021t0003g0044 a0002c0006t0003g0077 others(6): Show |
9 | 322 | 0.0280 | 13 | c.220 others(27): Show |
NEO1 | ENSG00000067141.17 | transcript | ENST00000261908.11 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NHLRC4_chr16_562005_574495 | 567469 | A | C | splice_acceptor_variant others(1): Show |
HIGH | HG01884.hp2 HG02622.hp2 HG02723.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0005g0002 a0002c0002t0001g0002 |
7 | 422 | 0.0166 | 0 | c.-57 others(6): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
NLRP5_chr19_55994726_56066810 | 56019729 | CAGTAATT others(1026): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG02809.hp2 HG03130.hp1 HG03486.hp2 others(1): Show |
a0014 | a0014c0096a0014c0128a0014c0129others(1): Show | a0014c0096t0001a0014c0128t0001a0014c0129t0003others(1): Show | a0014c0096t0001g0106 a0014c0128t0001g0102 a0014c0129t0003g0308 others(1): Show |
4 | 391 | 0.0102 | -1033 | c.622 others(15): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP8_chr19_55942832_55993629 | 55987913 | G | C | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(250): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0002a0001c0008others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(80): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(222): Show |
253 | 348 | 0.7270 | 0 | c.314 others(4): Show |
p.Ter others(12): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 10/10 | 3218/3934 | 3147/3147 | 1049/1048 | chr19 | TogoVar | |||
NOTCH2NLC_chr1_149385621_149476833 | 149463506 | G | A | stop_gained | HIGH | HG02145.hp1 HG02896.hp2 HG02897.hp2 others(1): Show |
a0017 | a0017c0015 | a0017c0015t0015a0017c0015t0046 | a0017c0015t0015g0233 a0017c0015t0015g0234 a0017c0015t0015g0235 others(1): Show |
4 | 258 | 0.0155 | 0 | c.485 others(3): Show |
p.Trp others(4): Show |
NOTCH2NLC | ENSG00000286219.2 | transcript | ENST00000650865.2 | protein_coding | 4/5 | 652/8729 | 485/882 | 162/293 | chr1 | TogoVar | |||
NPIPB2_chr16_11922373_11947045 | 11933617 | CAT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(393): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0003a0001c0004others(24): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(325): Show |
396 | 412 | 0.9612 | -2 | c.386 others(9): Show |
p.His others(5): Show |
NPIPB2 | ENSG00000234719.9 | transcript | ENST00000399147.8 | protein_coding | 4/8 | 387/1194 | 386/1194 | 129/397 | chr16 | TogoVar | |||
NPIPB7_chr16_28451329_28477336 | 28456526 | C | CCTCTGCC others(3): Show |
frameshift_variant | HIGH | HG00609.hp2 HG01891.hp1 HG02071.hp2 others(26): Show |
a0003a0012 | a0003c0003a0003c0005a0012c0018 | a0003c0003t0001a0003c0003t0014a0003c0005t0003others(1): Show | a0003c0003t0001g0027 a0003c0003t0001g0213 a0003c0003t0001g0224 others(23): Show |
29 | 380 | 0.0763 | 10 | c.113 others(19): Show |
p.Ala others(5): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 7/7 | 3040/3238 | 1142/1245 | 381/414 | chr16 | TogoVar | |||
NPPA_chr1_11840709_11852783 | 11846011 | A | G | stop_lost | HIGH | HG00140.hp2 HG00642.hp2 HG01074.hp1 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 others(7): Show |
65 | 364 | 0.1786 | 0 | c.454 others(3): Show |
p.Ter others(11): Show |
NPPA | ENSG00000175206.11 | transcript | ENST00000376480.7 | protein_coding | 3/3 | 553/855 | 454/456 | 152/151 | chr1 | TogoVar | |||
NPRL3_chr16_80386_143673 | 138304 | AGAGGAGG others(25): Show |
A | splice_acceptor_variant others(2): Show |
HIGH | HG00323.hp1 HG00423.hp2 HG00597.hp2 others(131): Show |
a0001a0003a0006 | a0001c0001a0001c0005a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(11): Show | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 others(131): Show |
134 | 347 | 0.3862 | -32 | c.-67 others(41): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 2/14 | 38 | chr16 | TogoVar | ||||||
NSUN7_chr4_40744955_40816184 | 40808358 | GCCAAGGG others(6): Show |
G | frameshift_variant | HIGH | HG03130.hp1 | a0014 | a0014c0012 | a0014c0012t0001 | a0014c0012t0001g0014 | 1 | 390 | 0.0026 | -13 | c.157 others(22): Show |
p.Ala others(5): Show |
NSUN7 | ENSG00000179299.17 | transcript | ENST00000381782.7 | protein_coding | 12/12 | 2014/4839 | 1577/2157 | 526/718 | chr4 | TogoVar | |||
NSUN7_chr4_40744955_40816184 | 40808386 | T | A | stop_gained | HIGH | HG03130.hp1 | a0014 | a0014c0012 | a0014c0012t0001 | a0014c0012t0001g0014 | 1 | 390 | 0.0026 | 0 | c.160 others(4): Show |
p.Leu others(4): Show |
NSUN7 | ENSG00000179299.17 | transcript | ENST00000381782.7 | protein_coding | 12/12 | 2041/4839 | 1604/2157 | 535/718 | chr4 | TogoVar | |||
NSUN7_chr4_40744955_40816184 | 40808395 | C | A | stop_gained | HIGH | HG03130.hp1 | a0014 | a0014c0012 | a0014c0012t0001 | a0014c0012t0001g0014 | 1 | 390 | 0.0026 | 0 | c.161 others(4): Show |
p.Ser others(4): Show |
NSUN7 | ENSG00000179299.17 | transcript | ENST00000381782.7 | protein_coding | 12/12 | 2050/4839 | 1613/2157 | 538/718 | chr4 | TogoVar | |||
NSUN7_chr4_40744955_40816184 | 40808398 | C | A | stop_gained | HIGH | HG03130.hp1 | a0014 | a0014c0012 | a0014c0012t0001 | a0014c0012t0001g0014 | 1 | 390 | 0.0026 | 0 | c.161 others(4): Show |
p.Ser others(4): Show |
NSUN7 | ENSG00000179299.17 | transcript | ENST00000381782.7 | protein_coding | 12/12 | 2053/4839 | 1616/2157 | 539/718 | chr4 | TogoVar | |||
NSUN7_chr4_40744955_40816184 | 40808418 | A | AAATCAGT others(8): Show |
stop_gained others(1): Show |
HIGH | HG03130.hp1 | a0014 | a0014c0012 | a0014c0012t0001 | a0014c0012t0001g0014 | 1 | 390 | 0.0026 | 15 | c.163 others(24): Show |
p.Lys others(28): Show |
NSUN7 | ENSG00000179299.17 | transcript | ENST00000381782.7 | protein_coding | 12/12 | 2076/4839 | 1639/2157 | 547/718 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
NUTM2A_chr10_87220448_87239978 | 87226077 | TC | T | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(378): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(65): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(74): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(158): Show |
381 | 402 | 0.9478 | -1 | c.250 others(4): Show |
p.Leu others(4): Show |
NUTM2A | ENSG00000184923.12 | transcript | ENST00000381707.6 | protein_coding | 1/7 | 633/3290 | 250/2637 | 84/878 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
OAS1_chr12_112901962_112924903 | 112919388 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0010others(5): Show | a0001c0001t0001a0001c0004t0001a0001c0010t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(80): Show |
306 | 434 | 0.7051 | 0 | c.103 others(6): Show |
OAS1 | ENSG00000089127.15 | transcript | ENST00000202917.10 | protein_coding | 5/5 | chr12 | TogoVar | |||||||
OGN_chr9_92378268_92409578 | 92401090 | A | G | splice_donor_variant others(1): Show |
HIGH | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0059 | 1 | 364 | 0.0027 | 0 | c.268 others(5): Show |
OGN | ENSG00000106809.11 | transcript | ENST00000375561.10 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
OR10AD1_chr12_48197339_48208292 | 48203092 | C | CA | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(74): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 77 | 412 | 0.1869 | 1 | c.200 others(4): Show |
p.Ser others(4): Show |
OR10AD1 | ENSG00000172640.4 | transcript | ENST00000310248.4 | protein_coding | 1/1 | 200/954 | 200/954 | 67/317 | chr12 | TogoVar | |||
OR10D3_chr11_124178345_124193780 | 124186025 | T | G | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0011a0003c0003others(4): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0008others(32): Show | a0002c0002t0001g0001 a0002c0002t0001g0009 a0002c0002t0001g0025 others(45): Show |
237 | 434 | 0.5461 | 0 | c.756 others(3): Show |
p.Tyr others(4): Show |
OR10D3 | ENSG00000197309.5 | transcript | ENST00000641351.3 | protein_coding | 2/2 | 806/3561 | 756/939 | 252/312 | chr11 | TogoVar | |||
OR10V1_chr11_59707916_59718845 | 59713479 | G | A | stop_gained | HIGH | HG00438.hp2 HG00639.hp2 HG00733.hp2 others(33): Show |
a0001a0002a0006 | a0001c0015a0002c0002a0006c0010 | a0001c0015t0001a0002c0002t0001a0006c0010t0001 | a0001c0015t0001g0000 a0002c0002t0001g0000 a0006c0010t0001g0000 |
36 | 426 | 0.0845 | 0 | c.367 others(3): Show |
p.Gln others(4): Show |
OR10V1 | ENSG00000172289.3 | transcript | ENST00000307552.3 | protein_coding | 1/1 | 367/930 | 367/930 | 123/309 | chr11 | TogoVar | |||
OR10X1_chr1_158573919_158584899 | 158579702 | C | T | stop_gained | HIGH | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(209): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0000 a0001c0004t0001g0000 a0001c0006t0001g0000 others(1): Show |
212 | 428 | 0.4953 | 0 | c.198 others(3): Show |
p.Trp others(3): Show |
OR10X1 | ENSG00000279111.2 | transcript | ENST00000623167.1 | protein_coding | 1/1 | 198/981 | 198/981 | 66/326 | chr1 | TogoVar | |||
OR11G2_chr14_20185896_20206075 | 20197747 | C | CA | frameshift_variant | HIGH | HG01109.hp2 HG03130.hp2 HG03225.hp2 others(3): Show |
a0008 | a0008c0008 | a0008c0008t0026a0008c0008t0029 | a0008c0008t0026g0036 a0008c0008t0026g0080 a0008c0008t0029g0014 |
6 | 480 | 0.0125 | 1 | c.311 others(4): Show |
p.Phe others(5): Show |
OR11G2 | ENSG00000196832.5 | transcript | ENST00000641879.2 | protein_coding | 2/2 | 1087/4413 | 312/936 | 104/311 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
OR11G2_chr14_20185896_20206075 | 20198016 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0015a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(59): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(101): Show |
274 | 478 | 0.5732 | 1 | c.585 others(4): Show |
p.Gly others(5): Show |
OR11G2 | ENSG00000196832.5 | transcript | ENST00000641879.2 | protein_coding | 2/2 | 1361/4413 | 586/936 | 196/311 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
OR13C2_chr9_104599671_104610627 | 104605111 | TGTTA | T | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(171): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 174 | 410 | 0.4244 | -4 | c.513 others(11): Show |
p.Asn others(5): Show |
OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | 516/957 | 513/957 | 171/318 | chr9 | TogoVar | |||
OR13C2_chr9_104599671_104610627 | 104605383 | AGC | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(204): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 207 | 410 | 0.5049 | -2 | c.243 others(9): Show |
p.Leu others(4): Show |
OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | 244/957 | 243/957 | 81/318 | chr9 | TogoVar | |||
OR13C5_chr9_104593457_104604413 | 104598487 | GT | G | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(209): Show |
a0001a0004a0005others(4): Show | a0001c0001a0004c0004a0005c0005others(4): Show | a0001c0001t0001a0004c0004t0001a0005c0005t0001others(4): Show | a0001c0001t0001g0000 a0004c0004t0001g0000 a0005c0005t0001g0000 others(4): Show |
212 | 422 | 0.5024 | -1 | c.926 others(4): Show |
p.His others(5): Show |
OR13C5 | ENSG00000277556.1 | transcript | ENST00000374779.3 | protein_coding | 1/1 | 926/957 | 926/957 | 309/318 | chr9 | TogoVar | |||
OR14L1_chr1_247612143_247627372 | 247620299 | A | AT | frameshift_variant | HIGH | HG00735.hp1 HG02258.hp2 HG02486.hp2 others(8): Show |
a0003a0005 | a0003c0004a0005c0011a0005c0012 | a0003c0004t0006a0003c0004t0017a0005c0011t0006others(1): Show | a0003c0004t0006g0007 a0003c0004t0006g0020 a0003c0004t0006g0038 others(3): Show |
11 | 432 | 0.0255 | 1 | c.721 others(4): Show |
p.Ser others(5): Show |
OR14L1 | ENSG00000198452.8 | transcript | ENST00000641545.1 | protein_coding | 2/2 | 943/3009 | 722/978 | 241/325 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
OR1B1_chr9_122623125_122662627 | 122629491 | C | CA | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(154): Show |
a0001a0008 | a0001c0001a0001c0005a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(8): Show | a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0023 others(97): Show |
157 | 418 | 0.3756 | 1 | c.41d others(3): Show |
p.Leu others(4): Show |
OR1B1 | ENSG00000280094.3 | transcript | ENST00000623530.2 | protein_coding | 2/2 | 574/1941 | 41/954 | 14/317 | chr9 | TogoVar | |||
OR1D5_chr17_3057669_3068607 | 3063249 | TA | T | frameshift_variant | HIGH | HG01070.hp1 HG02109.hp2 HG02615.hp1 others(6): Show |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0000 | 9 | 442 | 0.0204 | -1 | c.358 others(4): Show |
p.Tyr others(5): Show |
OR1D5 | ENSG00000262628.1 | transcript | ENST00000575751.1 | protein_coding | 1/1 | 358/939 | 358/939 | 120/312 | chr17 | TogoVar | |||
OR1R1P_chr17_3380930_3391874 | 3385989 | A | AACAG | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(198): Show |
a0001 | a0001c0001a0001c0010a0001c0011others(3): Show | a0001c0001t0001a0001c0010t0001a0001c0011t0001others(3): Show | a0001c0001t0001g0000 a0001c0010t0001g0000 a0001c0011t0001g0000 others(3): Show |
201 | 414 | 0.4855 | 4 | c.63_ others(9): Show |
p.Ala others(4): Show |
OR1R1P | ENSG00000180042.5 | transcript | ENST00000572493.2 | protein_coding | 1/1 | 67/945 | 67/945 | 23/314 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
OR2B11_chr1_247444182_247463104 | 247451959 | GA | G | frameshift_variant | HIGH | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(217): Show |
a0001 | a0001c0002a0001c0003a0001c0006others(11): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(71): Show | a0001c0002t0001g0001 a0001c0002t0001g0046 a0001c0002t0001g0115 others(79): Show |
220 | 476 | 0.4622 | -1 | c.23d others(3): Show |
p.Phe others(3): Show |
OR2B11 | ENSG00000177535.10 | transcript | ENST00000641149.2 | protein_coding | 2/2 | 3571/6349 | 23/954 | 8/317 | chr1 | TogoVar | |||
OR2D2_chr11_6886574_6897500 | 6891690 | ATT | A | frameshift_variant | HIGH | HG01109.hp1 HG02109.hp2 HG02257.hp2 others(12): Show |
a0005a0011 | a0005c0006a0011c0016 | a0005c0006t0001a0011c0016t0001 | a0005c0006t0001g0000 a0011c0016t0001g0000 |
15 | 480 | 0.0313 | -2 | c.809 others(9): Show |
p.Lys others(5): Show |
OR2D2 | ENSG00000166368.3 | transcript | ENST00000299459.3 | protein_coding | 1/1 | 810/927 | 809/927 | 270/308 | chr11 | TogoVar | |||
OR2D3_chr11_6916002_6926994 | 6921357 | TC | T | frameshift_variant | HIGH | HG00733.hp2 HG01256.hp1 HG01258.hp2 others(12): Show |
a0005 | a0005c0005a0005c0013 | a0005c0005t0001a0005c0013t0001 | a0005c0005t0001g0000 a0005c0013t0001g0000 |
15 | 464 | 0.0323 | -1 | c.357 others(4): Show |
p.Leu others(5): Show |
OR2D3 | ENSG00000178358.5 | transcript | ENST00000317834.5 | protein_coding | 1/1 | 357/993 | 357/993 | 119/330 | chr11 | TogoVar | |||
OR2L8_chr1_247943858_247954796 | 247949724 | T | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0007a0008others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(4): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0006t0001g0000 others(4): Show |
276 | 378 | 0.7302 | 0 | c.867 others(3): Show |
p.Tyr others(4): Show |
OR2L8 | ENSG00000279263.1 | transcript | ENST00000623922.1 | protein_coding | 1/1 | 867/939 | 867/939 | 289/312 | chr1 | TogoVar | |||
OR2T27_chr1_248644838_248660528 | 248650008 | T | TA | frameshift_variant | HIGH | HG01243.hp1 HG01884.hp1 HG02055.hp1 others(19): Show |
a0004a0009a0011others(7): Show | a0004c0082a0009c0010a0011c0015others(8): Show | a0004c0082t0008a0009c0010t0004a0011c0015t0004others(9): Show | a0004c0082t0008g0134 a0009c0010t0004g0010 a0011c0015t0004g0024 others(10): Show |
22 | 382 | 0.0576 | 1 | c.876 others(4): Show |
p.Arg others(5): Show |
OR2T27 | ENSG00000187701.5 | transcript | ENST00000460972.4 | protein_coding | 2/2 | 965/1136 | 876/954 | 292/317 | chr1 | TogoVar | |||
OR2T2_chr1_248440637_248460725 | 248446506 | AGATGGGC others(93): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | HG01891.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
a0003 | a0003c0004 | a0003c0004t0007a0003c0004t0018 | a0003c0004t0007g0021 a0003c0004t0007g0098 a0003c0004t0007g0099 others(3): Show |
8 | 328 | 0.0244 | -100 | c.-44 others(112): Show |
OR2T2 | ENSG00000196240.6 | transcript | ENST00000641925.2 | protein_coding | 2/4 | 6185 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
OR2T35_chr1_248631356_248650278 | 248638301 | T | TCA | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(298): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(91): Show |
301 | 306 | 0.9837 | 2 | c.956 others(9): Show |
p.Ile others(5): Show |
OR2T35 | ENSG00000177151.5 | transcript | ENST00000641268.1 | protein_coding | 2/2 | 1011/2957 | 957/972 | 319/323 | chr1 | TogoVar |