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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||
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 | |||
NPIPB8_chr16_28633065_28663744 | 28658517 | A | AAGAGGCA others(3): Show |
frameshift_variant | HIGH | HG02055.hp1 HG02280.hp2 HG02559.hp2 others(16): Show |
a0004a0006a0025others(1): Show | a0004c0005a0006c0008a0006c0015others(2): Show | a0004c0005t0001a0006c0008t0002a0006c0015t0001others(3): Show | a0004c0005t0001g0199 a0004c0005t0001g0200 a0004c0005t0001g0201 others(16): Show |
19 | 350 | 0.0543 | 10 | c.118 others(19): Show |
p.Ala others(5): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 8/8 | 1321/1537 | 1197/1299 | 399/432 | INFO_REALIGN_3_PRIME | chr16 | 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 | ||
ODAD2_chr10_27807168_28004079 | 27983938 | G | A | stop_gained | HIGH | HG03041.hp1 | a0015 | a0015c0038 | a0015c0038t0002 | a0015c0038t0002g0170 | 1 | 302 | 0.0033 | 0 | c.724 others(3): Show |
p.Gln others(4): Show |
ODAD2 | ENSG00000169126.16 | transcript | ENST00000305242.10 | protein_coding | 6/20 | 848/3603 | 724/3135 | 242/1044 | chr10 | TogoVar | |||
OOSP1_chr11_59933432_59962480 | 59945232 | C | T | stop_gained | HIGH | HG02630.hp1 HG03041.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0048 a0002c0002t0002g0049 |
2 | 384 | 0.0052 | 0 | c.322 others(3): Show |
p.Arg others(4): Show |
OOSP1 | ENSG00000284873.1 | transcript | ENST00000646685.1 | protein_coding | 3/5 | 345/795 | 322/555 | 108/184 | chr11 | TogoVar | |||
OR10C1_chr6_29434306_29445977 | 29440178 | C | T | stop_gained | HIGH | HG02257.hp2 HG02572.hp2 HG02615.hp2 others(7): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0000 | 10 | 450 | 0.0222 | 0 | c.163 others(3): Show |
p.Gln others(3): Show |
OR10C1 | ENSG00000206474.8 | transcript | ENST00000444197.3 | protein_coding | 1/1 | 873/1672 | 163/939 | 55/312 | chr6 | 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 | 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 | 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 | |||
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 | |||
OR1E2_chr17_3427870_3438841 | 3433106 | CCTTGCAG others(3): Show |
C | frameshift_variant | HIGH | HG01884.hp1 HG02280.hp2 HG02965.hp1 others(6): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0000 | 9 | 446 | 0.0202 | -10 | c.726 others(17): Show |
p.Ile others(5): Show |
OR1E2 | ENSG00000127780.3 | transcript | ENST00000248384.1 | protein_coding | 1/1 | 735/972 | 726/972 | 242/323 | 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 | ||
OR1S1_chr11_58207720_58221084 | 58215722 | A | G | stop_lost | HIGH | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(223): Show |
a0001a0012 | a0001c0001a0001c0005a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(13): Show |
226 | 458 | 0.4935 | 0 | c.939 others(3): Show |
p.Ter others(11): Show |
OR1S1 | ENSG00000280204.4 | transcript | ENST00000641544.1 | protein_coding | 2/2 | 1112/1474 | 939/939 | 313/312 | chr11 | 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 | |||
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 | |||
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 | ||
OR4D1_chr17_58143384_58164585 | 58156083 | G | GT | frameshift_variant others(1): Show |
HIGH | HG00639.hp2 HG01257.hp2 HG01258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0061 | a0001c0001t0013g0014 a0001c0001t0013g0023 a0001c0001t0061g0014 |
6 | 376 | 0.0160 | 1 | c.931 others(4): Show |
p.Ter others(5): Show |
OR4D1 | ENSG00000141194.7 | transcript | ENST00000268912.6 | protein_coding | 4/4 | 1627/5127 | 932/933 | 311/310 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
OR4L1_chr14_20055045_20065983 | 20060289 | TCATAGAT others(12): Show |
T | frameshift_variant | HIGH | HG00099.hp1 HG00323.hp2 HG00438.hp2 others(235): Show |
a0001a0003a0005others(1): Show | a0001c0002a0001c0005a0001c0008others(10): Show | a0001c0002t0001a0001c0005t0001a0001c0008t0001others(10): Show | a0001c0002t0001g0000 a0001c0005t0001g0000 a0001c0008t0001g0000 others(10): Show |
238 | 438 | 0.5434 | -19 | c.248 others(26): Show |
p.Ile others(4): Show |
OR4L1 | ENSG00000176246.1 | transcript | ENST00000315683.1 | protein_coding | 1/1 | 248/939 | 248/939 | 83/312 | 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 | |||
OR51A4_chr11_4937831_4952605 | 4946925 | TCATGCAA others(5673): Show |
T | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(134): Show |
a0001a0009 | a0001c0001a0009c0010 | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(8): Show | a0001c0001t0001g0001 a0001c0001t0007g0008 a0001c0001t0013g0015 others(8): Show |
137 | 434 | 0.3157 | -5680 | c.-51 others(9): Show |
OR51A4 | ENSG00000205497.5 | transcript | ENST00000641898.1 | protein_coding | 1/2 | 298/4393 | 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 | |||
OR51F1_chr11_4763979_4774938 | 4769643 | CG | C | frameshift_variant | HIGH | HG00639.hp1 HG00735.hp2 HG00738.hp2 others(62): Show |
a0002 | a0002c0003a0002c0004a0002c0005others(8): Show | a0002c0003t0001a0002c0004t0001a0002c0005t0001others(8): Show | a0002c0003t0001g0000 a0002c0004t0001g0000 a0002c0005t0001g0000 others(8): Show |
65 | 340 | 0.1912 | -1 | c.295 others(4): Show |
p.Arg others(4): Show |
OR51F1 | ENSG00000280021.3 | transcript | ENST00000624103.2 | protein_coding | 1/1 | 295/960 | 295/960 | 99/319 | 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 | |||
OR52B4_chr11_4362263_4373386 | 4368174 | AG | A | frameshift_variant | HIGH | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(170): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0000 a0002c0002t0004g0000 |
173 | 464 | 0.3728 | -1 | c.121 others(4): Show |
p.Leu others(4): Show |
OR52B4 | ENSG00000221996.6 | transcript | ENST00000624801.3 | protein_coding | 1/1 | 212/1124 | 121/945 | 41/314 | chr11 | TogoVar | |||
OR52D1_chr11_5483685_5494749 | 5489310 | G | GGGCT | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(45): Show |
a0004a0012 | a0004c0006a0004c0017a0004c0018others(1): Show | a0004c0006t0001a0004c0017t0001a0004c0018t0001others(1): Show | a0004c0006t0001g0000 a0004c0017t0001g0000 a0004c0018t0001g0000 others(1): Show |
48 | 462 | 0.1039 | 4 | c.605 others(11): Show |
p.Thr others(5): Show |
OR52D1 | ENSG00000181609.5 | transcript | ENST00000322641.5 | protein_coding | 1/1 | 631/1065 | 609/957 | 203/318 | INFO_REALIGN_3_PRIME | 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 | ||||||
OR5H15_chr3_98161696_98174774 | 98169478 | T | TG | frameshift_variant | HIGH | HG01891.hp2 HG02258.hp2 HG02622.hp1 others(6): Show |
a0007a0012 | a0007c0008a0012c0023 | a0007c0008t0003a0007c0008t0004a0012c0023t0003 | a0007c0008t0003g0008 a0007c0008t0003g0013 a0007c0008t0004g0008 others(1): Show |
9 | 442 | 0.0204 | 1 | c.782 others(4): Show |
p.Ala others(5): Show |
OR5H15 | ENSG00000233412.6 | transcript | ENST00000641450.1 | protein_coding | 2/2 | 937/1229 | 783/942 | 261/313 | 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 | ||
OR6C76_chr12_55421254_55432192 | 55427118 | C | CT | frameshift_variant | HIGH | HG02886.hp2 HG02976.hp2 HG03017.hp1 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0000 | 6 | 438 | 0.0137 | 1 | c.866 others(4): Show |
p.Arg others(5): Show |
OR6C76 | ENSG00000185821.3 | transcript | ENST00000328314.3 | protein_coding | 1/1 | 867/939 | 867/939 | 289/312 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
OR6C76_chr12_55421254_55432192 | 55427174 | CA | C | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp2 HG00741.hp2 others(67): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0003c0004t0001 | a0002c0002t0001g0000 a0003c0004t0001g0000 |
70 | 435 | 0.1609 | -1 | c.933 others(4): Show |
p.Lys others(5): Show |
OR6C76 | ENSG00000185821.3 | transcript | ENST00000328314.3 | protein_coding | 1/1 | 933/939 | 933/939 | 311/312 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
OR6Y1_chr1_158539550_158559405 | 158546972 | CATGATTG others(4974): Show |
C | start_lost others(2): Show |
HIGH | HG02451.hp1 HG03041.hp2 HG03098.hp1 others(3): Show |
a0002 | a0002c0000 | a0002c0000t0010a0002c0000t0030 | a0002c0000t0010g0016 a0002c0000t0010g0053 a0002c0000t0030g0054 |
6 | 428 | 0.0140 | -4981 | c.-14 others(15): Show |
p.Met others(11): Show |
OR6Y1 | ENSG00000197532.3 | transcript | ENST00000641622.1 | protein_coding | 2/2 | 2705/5128 | 1/978 | 1/325 | chr1 | TogoVar | |||
OR7G3_chr19_9121012_9131950 | 9126022 | G | GATGGT | frameshift_variant | HIGH | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(174): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0014a0003c0003others(3): Show | a0002c0002t0001a0002c0014t0001a0003c0003t0001others(3): Show | a0002c0002t0001g0000 a0002c0014t0001g0000 a0003c0003t0001g0000 others(3): Show |
177 | 400 | 0.4425 | 5 | c.924 others(12): Show |
p.Ser others(5): Show |
OR7G3 | ENSG00000170920.2 | transcript | ENST00000305444.2 | protein_coding | 1/1 | 928/939 | 928/939 | 310/312 | chr19 | TogoVar | |||
OR7G3_chr19_9121012_9131950 | 9126240 | AG | A | frameshift_variant | HIGH | HG00280.hp2 HG00738.hp1 HG01069.hp1 others(23): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 26 | 400 | 0.0650 | -1 | c.710 others(4): Show |
p.Ala others(5): Show |
OR7G3 | ENSG00000170920.2 | transcript | ENST00000305444.2 | protein_coding | 1/1 | 710/939 | 710/939 | 237/312 | chr19 | TogoVar | |||
OR8G1_chr11_124236095_124259364 | 124250452 | C | G | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(214): Show |
a0001a0004a0007 | a0001c0002a0001c0003a0001c0010others(2): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(20): Show | a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 others(41): Show |
217 | 428 | 0.5070 | 0 | c.777 others(3): Show |
p.Tyr others(4): Show |
OR8G1 | ENSG00000197849.7 | transcript | ENST00000641972.1 | protein_coding | 3/3 | 1143/5055 | 777/936 | 259/311 | chr11 | TogoVar | |||
OR8G1_chr11_124236095_124259364 | 124250538 | TGATTTAT others(844): Show |
T | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(214): Show |
a0001a0004a0007 | a0001c0002a0001c0003a0001c0010others(2): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(20): Show | a0001c0002t0003g0003 a0001c0002t0003g0010 a0001c0002t0003g0020 others(41): Show |
217 | 428 | 0.5070 | -851 | c.866 others(8): Show |
p.Ile others(5): Show |
OR8G1 | ENSG00000197849.7 | transcript | ENST00000641972.1 | protein_coding | 3/3 | 1232/5055 | 866/936 | 289/311 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
OR8K1_chr11_56341039_56351998 | 56346040 | T | C | start_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(347): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(8): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0004t0001g0000 others(8): Show |
350 | 436 | 0.8028 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
OR8K1 | ENSG00000150261.5 | transcript | ENST00000279783.5 | protein_coding | 1/1 | 2/960 | 2/960 | 1/319 | chr11 | TogoVar | |||
OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7603): Show |
frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00621.hp1 HG00642.hp1 others(24): Show |
a0004a0007 | a0004c0004a0004c0021a0007c0023 | a0004c0004t0001a0004c0021t0001a0007c0023t0001 | a0004c0004t0001g0000 a0004c0021t0001g0000 a0007c0023t0001g0000 |
27 | 69 | 0.3913 | 7610 | c.590 others(7617): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7603): Show |
frameshift_variant others(1): Show |
HIGH | HG03041.hp1 | a0004 | a0004c0040 | a0004c0040t0001 | a0004c0040t0001g0000 | 1 | 43 | 0.0233 | 7610 | c.590 others(7617): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
OXR1_chr8_106265190_106757694 | 106692712 | TA | T | splice_acceptor_variant others(1): Show |
HIGH | HG01256.hp2 HG02647.hp2 HG02717.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0093 a0001c0001t0003g0101 a0001c0002t0001g0026 others(2): Show |
5 | 169 | 0.0296 | -1 | c.526 others(6): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
OXSM_chr3_25785090_25799531 | 25794492 | T | C | stop_lost | HIGH | HG01891.hp1 HG02145.hp2 HG02258.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0006a0002c0004t0002 | a0001c0001t0002g0004 a0001c0001t0006g0004 a0002c0004t0002g0004 |
14 | 380 | 0.0368 | 0 | c.137 others(4): Show |
p.Ter others(11): Show |
OXSM | ENSG00000151093.8 | transcript | ENST00000280701.8 | protein_coding | 3/3 | 1467/1506 | 1378/1380 | 460/459 | chr3 | TogoVar | |||
PCDHB7_chr5_141167644_141181383 | 141174873 | C | T | stop_gained | HIGH | HG03041.hp2 | a0023 | a0023c0026 | a0023c0026t0003 | a0023c0026t0003g0000 | 1 | 414 | 0.0024 | 0 | c.203 others(4): Show |
p.Gln others(4): Show |
PCDHB7 | ENSG00000113212.7 | transcript | ENST00000231137.6 | protein_coding | 1/1 | 2230/3740 | 2038/2382 | 680/793 | chr5 | TogoVar |