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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MRPL42_chr12_93462514_93521214 | 93479377 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG02257.hp1 HG02572.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0135a0001c0001t0136others(2): Show | a0001c0001t0022g0026 a0001c0001t0022g0163 a0001c0001t0022g0165 others(4): Show |
7 | 385 | 0.0182 | 1 | c.135 others(6): Show |
MRPL42 | ENSG00000198015.14 | transcript | ENST00000549982.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MRPS34_chr16_1766895_1778134 | 1772796 | C | CACCT | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(166): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0004g0012 others(6): Show |
169 | 434 | 0.3894 | 4 | c.320 others(13): Show |
MRPS34 | ENSG00000074071.15 | transcript | ENST00000397375.7 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
MS4A12_chr11_60487778_60512430 | 60497529 | C | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(177): Show |
a0002 | a0002c0002a0002c0004a0002c0005others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(3): Show | a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0021 others(55): Show |
180 | 430 | 0.4186 | 0 | c.211 others(3): Show |
p.Gln others(3): Show |
MS4A12 | ENSG00000071203.9 | transcript | ENST00000016913.8 | protein_coding | 2/7 | 268/1167 | 211/804 | 71/267 | chr11 | TogoVar | |||
MT1G_chr16_56661730_56673065 | 56667382 | T | A | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(125): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0002g0002 others(4): Show |
128 | 468 | 0.2735 | 0 | c.29- others(4): Show |
MT1G | ENSG00000125144.14 | transcript | ENST00000379811.4 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
MTA1_chr14_105414827_105475729 | 105466438 | G | GC | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp1 HG00639.hp1 others(21): Show |
a0004a0005 | a0004c0003a0005c0005 | a0004c0003t0001a0005c0005t0001 | a0004c0003t0001g0039 a0004c0003t0001g0041 a0004c0003t0001g0078 others(21): Show |
24 | 302 | 0.0795 | 1 | c.164 others(5): Show |
p.Lys others(5): Show |
MTA1 | ENSG00000182979.18 | transcript | ENST00000331320.12 | protein_coding | 17/21 | 1854/2871 | 1645/2148 | 549/715 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
MUC22_chr6_31005474_31040402 | 31027337 | AC | A | frameshift_variant | HIGH | HG00597.hp2 HG00609.hp2 HG00673.hp1 others(38): Show |
a0007a0017a0036others(8): Show | a0007c0007a0007c0022a0017c0016others(10): Show | a0007c0007t0001a0007c0022t0001a0017c0016t0001others(10): Show | a0007c0007t0001g0001 a0007c0007t0001g0124 a0007c0007t0001g0210 others(16): Show |
41 | 460 | 0.0891 | -1 | c.190 others(5): Show |
p.Thr others(5): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 2141/6019 | 1908/5322 | 636/1773 | INFO_REALIGN_3_PRIME | chr6 | 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 | |||||||
MYO15B_chr17_75582800_75631849 | 75596487 | CTG | C | frameshift_variant | HIGH | HG00738.hp1 HG01070.hp2 HG01109.hp1 others(20): Show |
a0003a0009a0013others(6): Show | a0003c0039a0003c0057a0003c0062others(17): Show | a0003c0039t0002a0003c0057t0002a0003c0062t0002others(17): Show | a0003c0039t0002g0074 a0003c0039t0002g0075 a0003c0057t0002g0048 others(19): Show |
23 | 382 | 0.0602 | -2 | c.332 others(11): Show |
p.Cys others(6): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 13/64 | 3586/9914 | 3328/9291 | 1110/3096 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
MYO15B_chr17_75582800_75631849 | 75605879 | C | T | stop_gained | HIGH | HG02647.hp2 HG02717.hp2 HG02895.hp2 others(2): Show |
a0009a0013a0074 | a0009c0031a0013c0040a0074c0111 | a0009c0031t0001a0013c0040t0002a0074c0111t0001 | a0009c0031t0001g0280 a0009c0031t0001g0281 a0013c0040t0002g0011 others(1): Show |
5 | 382 | 0.0131 | 0 | c.415 others(4): Show |
p.Gln others(5): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 21/64 | 4408/9914 | 4150/9291 | 1384/3096 | chr17 | TogoVar | |||
MYORG_chr9_34361666_34381898 | 34372875 | G | C | stop_gained | HIGH | HG00099.hp1 HG00323.hp2 HG00609.hp1 others(56): Show |
a0004a0008 | a0004c0004a0004c0005a0004c0015others(1): Show | a0004c0004t0003a0004c0004t0018a0004c0004t0037others(4): Show | a0004c0004t0003g0005 a0004c0004t0003g0021 a0004c0004t0003g0034 others(10): Show |
59 | 450 | 0.1311 | 0 | c.69C others(2): Show |
p.Tyr others(3): Show |
MYORG | ENSG00000164976.9 | transcript | ENST00000297625.8 | protein_coding | 2/2 | 238/6447 | 69/2145 | 23/714 | chr9 | TogoVar | |||
NBPF10_chr1_146059711_146149804 | 146074349 | TCAGTTCA others(3189): Show |
T | exon_loss_variant | HIGH | HG00597.hp2 HG00639.hp2 HG01099.hp2 others(16): Show |
a0001a0027a0071 | a0001c0008a0001c0016a0001c0034others(6): Show | a0001c0008t0003a0001c0016t0003a0001c0034t0003others(6): Show | a0001c0008t0003g0170 a0001c0008t0003g0177 a0001c0008t0003g0191 others(16): Show |
19 | 256 | 0.0742 | -3196 | c.949 others(9): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 79/90 | 10034/13030 | 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 | |||||||
NBPF3_chr1_21435137_21489900 | 21474942 | TGTCTCCC others(2): Show |
T | frameshift_variant others(3): Show |
HIGH | HG01099.hp1 HG01106.hp2 HG01346.hp1 others(17): Show |
a0004a0022 | a0004c0004a0004c0018a0022c0028 | a0004c0004t0005a0004c0018t0005a0022c0028t0007 | a0004c0004t0005g0013 a0004c0004t0005g0022 a0004c0004t0005g0060 others(14): Show |
20 | 392 | 0.0510 | -9 | c.986 others(18): Show |
p.Ser others(5): Show |
NBPF3 | ENSG00000142794.19 | transcript | ENST00000318249.10 | protein_coding | 8/15 | 1337/3767 | 986/1902 | 329/633 | 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 | |||
NEK3_chr13_52127647_52164597 | 52143914 | CT | C | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(210): Show |
a0001a0008a0009 | a0001c0001a0008c0012a0009c0010 | a0001c0001t0001a0001c0001t0006a0008c0012t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(97): Show |
213 | 396 | 0.5379 | -1 | c.877 others(4): Show |
p.Thr others(5): Show |
NEK3 | ENSG00000136098.18 | transcript | ENST00000610828.5 | protein_coding | 10/16 | 989/2128 | 877/1521 | 293/506 | chr13 | 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 | |||
NPIPA5_chr16_15358628_15383294 | 15363681 | CGCTGAGG others(64): Show |
C | frameshift_variant | HIGH | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(80): Show |
a0002a0010 | a0002c0002a0010c0019 | a0002c0002t0001a0010c0019t0001 | a0002c0002t0001g0001 a0002c0002t0001g0020 a0002c0002t0001g0021 others(39): Show |
83 | 430 | 0.1930 | -71 | c.960 others(79): Show |
p.Pro others(5): Show |
NPIPA5 | ENSG00000183793.14 | transcript | ENST00000360151.9 | protein_coding | 8/8 | 1030/1084 | 960/1053 | 320/350 | chr16 | TogoVar | |||
NPIPB13_chr16_30217897_30253479 | 30224067 | C | CCCCCGCA others(6): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(81): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0021a0001c0033others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0038 a0001c0001t0002g0118 a0001c0001t0002g0119 others(81): Show |
84 | 144 | 0.5833 | 13 | c.237 others(22): Show |
p.Pro others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 5121/6292 | 2378/3417 | 793/1138 | chr16 | TogoVar | |||
NPIPB13_chr16_30217897_30253479 | 30224193 | CCCCCGCA others(6): Show |
C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(120): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0002a0001c0017others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0040 others(120): Show |
123 | 144 | 0.8542 | -13 | c.224 others(22): Show |
p.Glu others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4995/6292 | 2240/3417 | 747/1138 | 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 | |||
NR1H2_chr19_50371457_50388388 | 50376578 | T | C | splice_donor_variant others(1): Show |
HIGH | HG02257.hp1 HG02451.hp2 HG02717.hp1 others(4): Show |
a0001 | a0001c0007a0001c0019 | a0001c0007t0004a0001c0019t0006 | a0001c0007t0004g0011 a0001c0007t0004g0026 a0001c0019t0006g0027 |
7 | 372 | 0.0188 | 0 | c.-12 others(6): Show |
NR1H2 | ENSG00000131408.15 | transcript | ENST00000253727.10 | protein_coding | 1/9 | chr19 | 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 | |||||||
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 | |||
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 | |||
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 | |||
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 | |||
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 | |||
OR2T4_chr1_248356665_248367627 | 248361985 | CTACG | C | frameshift_variant | HIGH | HG01261.hp2 HG01884.hp2 HG01891.hp1 others(11): Show |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0000 | 14 | 428 | 0.0327 | -4 | c.323 others(11): Show |
p.Tyr others(5): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 323/963 | 323/963 | 108/320 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
OR2T4_chr1_248356665_248367627 | 248362026 | C | CTA | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(133): Show |
a0003a0004a0005 | a0003c0003a0003c0007a0003c0009others(2): Show | a0003c0003t0001a0003c0007t0001a0003c0009t0001others(2): Show | a0003c0003t0001g0000 a0003c0007t0001g0000 a0003c0009t0001g0000 others(2): Show |
136 | 428 | 0.3178 | 2 | c.362 others(9): Show |
p.Met others(5): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 363/963 | 363/963 | 121/320 | chr1 | TogoVar | |||
OR2T4_chr1_248356665_248367627 | 248362336 | CA | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(155): Show |
a0001a0009 | a0001c0001a0001c0011a0001c0014others(1): Show | a0001c0001t0001a0001c0011t0001a0001c0014t0001others(1): Show | a0001c0001t0001g0000 a0001c0011t0001g0000 a0001c0014t0001g0000 others(1): Show |
158 | 428 | 0.3692 | -1 | c.673 others(4): Show |
p.Ile others(5): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 673/963 | 673/963 | 225/320 | chr1 | TogoVar | |||
OR2T8_chr1_247915252_247928152 | 247921168 | C | CG | frameshift_variant | HIGH | HG02451.hp1 HG02647.hp1 HG02717.hp2 others(2): Show |
a0014 | a0014c0024a0014c0060a0014c0061 | a0014c0024t0001a0014c0060t0002a0014c0061t0002 | a0014c0024t0001g0001 a0014c0060t0002g0002 a0014c0061t0002g0002 |
5 | 424 | 0.0118 | 1 | c.151 others(8): Show |
p.His others(4): Show |
OR2T8 | ENSG00000177462.9 | transcript | ENST00000641945.2 | protein_coding | 2/2 | 439/2422 | 152/939 | 51/312 | chr1 | TogoVar | |||
OR2V2_chr5_181142586_181164285 | 181155256 | TTGTC | T | frameshift_variant | HIGH | HG00408.hp1 HG00738.hp2 HG01515.hp2 others(23): Show |
a0003 | a0003c0003 | a0003c0003t0009a0003c0003t0014a0003c0003t0032others(4): Show | a0003c0003t0009g0004 a0003c0003t0009g0010 a0003c0003t0014g0010 others(10): Show |
26 | 422 | 0.0616 | -4 | c.320 others(11): Show |
p.Cys others(5): Show |
OR2V2 | ENSG00000182613.3 | transcript | ENST00000641492.1 | protein_coding | 2/2 | 754/4777 | 320/948 | 107/315 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
OR4Q3_chr14_19738571_19754469 | 19747402 | T | TTCTC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG01069.hp1 HG01071.hp2 others(13): Show |
a0003 | a0003c0003a0003c0007 | a0003c0003t0003a0003c0003t0006a0003c0007t0003 | a0003c0003t0003g0006 a0003c0003t0003g0018 a0003c0003t0006g0011 others(1): Show |
16 | 274 | 0.0584 | 4 | c.3-3 others(11): Show |
OR4Q3 | ENSG00000182652.4 | transcript | ENST00000642117.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
OR4X1_chr11_48258861_48269778 | 48264679 | T | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(223): Show |
a0002a0003a0005others(1): Show | a0002c0002a0002c0004a0002c0005others(7): Show | a0002c0002t0001a0002c0004t0001a0002c0005t0001others(7): Show | a0002c0002t0001g0000 a0002c0004t0001g0000 a0002c0005t0001g0000 others(7): Show |
226 | 400 | 0.5650 | 0 | c.819 others(3): Show |
p.Tyr others(4): Show |
OR4X1 | ENSG00000176567.1 | transcript | ENST00000320048.1 | protein_coding | 1/1 | 819/918 | 819/918 | 273/305 | chr11 | TogoVar | |||
OR51B5_chr11_5337586_5348524 | 5343311 | CCAGCCCC others(10): Show |
C | frameshift_variant | HIGH | HG01361.hp2 HG01433.hp1 HG02109.hp2 others(19): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0000 | 22 | 464 | 0.0474 | -17 | c.197 others(24): Show |
p.Ala others(4): Show |
OR51B5 | ENSG00000167355.8 | transcript | ENST00000300773.3 | protein_coding | 1/1 | 213/939 | 197/939 | 66/312 | chr11 | TogoVar | |||
OR51I2_chr11_5444323_5461518 | 5454410 | CA | C | frameshift_variant | HIGH | HG00642.hp2 HG01109.hp2 HG01884.hp2 others(22): Show |
a0006a0009 | a0006c0006a0009c0011 | a0006c0006t0005a0006c0006t0017a0006c0006t0023others(2): Show | a0006c0006t0005g0011 a0006c0006t0005g0017 a0006c0006t0005g0030 others(5): Show |
25 | 480 | 0.0521 | -1 | c.923 others(4): Show |
p.His others(5): Show |
OR51I2 | ENSG00000187918.6 | transcript | ENST00000641930.1 | protein_coding | 2/2 | 1195/3302 | 923/939 | 308/312 | chr11 | TogoVar | |||
OR51Q1_chr11_5417111_5428206 | 5422906 | C | T | stop_gained | HIGH | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(211): Show |
a0002a0003a0008 | a0002c0002a0003c0003a0008c0007 | a0002c0002t0001a0002c0002t0003a0003c0003t0001others(1): Show | a0002c0002t0001g0000 a0002c0002t0003g0000 a0003c0003t0001g0000 others(1): Show |
214 | 452 | 0.4735 | 0 | c.706 others(3): Show |
p.Arg others(4): Show |
OR51Q1 | ENSG00000167360.6 | transcript | ENST00000300778.4 | protein_coding | 1/1 | 796/1096 | 706/954 | 236/317 | chr11 | TogoVar | |||
OR51V1_chr11_5194735_5205682 | 5200208 | TAAAG | T | frameshift_variant | HIGH | HG02280.hp2 HG02572.hp2 HG02717.hp1 others(9): Show |
a0003 | a0003c0005a0003c0006 | a0003c0005t0001a0003c0006t0001 | a0003c0005t0001g0000 a0003c0006t0001g0000 |
12 | 444 | 0.0270 | -4 | c.471 others(11): Show |
p.Phe others(5): Show |
OR51V1 | ENSG00000176742.3 | transcript | ENST00000641270.1 | protein_coding | 1/1 | 474/948 | 471/948 | 157/315 | chr11 | TogoVar | |||
OR52E8_chr11_5851749_5862690 | 5856749 | T | A | stop_lost others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(165): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 168 | 434 | 0.3871 | 0 | c.942 others(3): Show |
p.Ter others(11): Show |
OR52E8 | ENSG00000183269.6 | transcript | ENST00000537935.2 | protein_coding | 1/1 | 942/942 | 942/942 | 314/313 | chr11 | TogoVar | |||
OR56B2P_chr11_5756153_5774080 | 5763343 | CACTCTTG others(10730): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00597.hp2 others(56): Show |
a0002 | a0002c0000 | a0002c0000t0003 | a0002c0000t0003g0003 a0002c0000t0003g0019 |
59 | 432 | 0.1366 | -10737 | c.2-1 others(12): Show |
OR56B2P | ENSG00000181017.7 | transcript | ENST00000641377.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OR5AC2_chr3_98082173_98093102 | 98087856 | G | GA | frameshift_variant | HIGH | HG01175.hp2 HG02055.hp1 HG02109.hp2 others(14): Show |
a0006a0008a0009 | a0006c0006a0008c0009a0009c0010 | a0006c0006t0001a0006c0006t0002a0008c0009t0001others(1): Show | a0006c0006t0001g0000 a0006c0006t0002g0000 a0008c0009t0001g0000 others(1): Show |
17 | 460 | 0.0370 | 1 | c.692 others(4): Show |
p.Ser others(5): Show |
OR5AC2 | ENSG00000196578.4 | transcript | ENST00000358642.2 | protein_coding | 1/1 | 693/930 | 693/930 | 231/309 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
OR5K2_chr3_98492681_98503631 | 98498334 | T | A | stop_gained | HIGH | HG00099.hp1 HG00642.hp2 HG00673.hp1 others(46): Show |
a0002 | a0002c0002a0002c0003a0002c0011 | a0002c0002t0001a0002c0003t0001a0002c0011t0001 | a0002c0002t0001g0000 a0002c0003t0001g0000 a0002c0011t0001g0000 |
49 | 484 | 0.1012 | 0 | c.654 others(3): Show |
p.Tyr others(4): Show |
OR5K2 | ENSG00000231861.3 | transcript | ENST00000427338.3 | protein_coding | 1/1 | 654/951 | 654/951 | 218/316 | chr3 | TogoVar | |||
OR5K3_chr3_98385666_98396631 | 98391562 | G | GA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(89): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0001a0002c0009t0001 | a0002c0002t0001g0000 a0002c0009t0001g0000 |
92 | 470 | 0.1957 | 1 | c.904 others(4): Show |
p.Ile others(5): Show |
OR5K3 | ENSG00000206536.1 | transcript | ENST00000383695.1 | protein_coding | 1/1 | 905/966 | 905/966 | 302/321 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
OR5K4_chr3_98348854_98359819 | 98354747 | TA | T | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(100): Show |
a0002a0007 | a0002c0002a0007c0009 | a0002c0002t0001a0007c0009t0001 | a0002c0002t0001g0000 a0007c0009t0001g0000 |
103 | 450 | 0.2289 | -1 | c.901 others(4): Show |
p.Ile others(5): Show |
OR5K4 | ENSG00000196098.2 | transcript | ENST00000354924.2 | protein_coding | 1/1 | 901/966 | 901/966 | 301/321 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |