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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NPIPB11_chr16_29376310_29411711 | 29382145 | CCCCCGCA others(132): Show |
C | frameshift_variant | HIGH | HG00423.hp2 HG01074.hp1 HG01255.hp2 others(15): Show |
a0010a0028a0040others(5): Show | a0010c0009a0010c0085a0028c0026others(6): Show | a0010c0009t0004a0010c0009t0022a0010c0085t0004others(7): Show | a0010c0009t0004g0002a0010c0009t0004g0059a0010c0009t0004g0062others(12): Show | 18 | 428 | 0.0421 | -139 | c.264 others(9): Show |
p.Glu others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5533/6369 | 2648/3486 | 883/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29382270 | GAACCCAC others(6): Show |
G | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(146): Show |
a0002a0003a0009others(33): Show | a0002c0003a0002c0022a0002c0054others(42): Show | a0002c0003t0001a0002c0003t0005a0002c0003t0009others(52): Show | a0002c0003t0001g0131a0002c0003t0001g0133a0002c0003t0001g0135others(144): Show | 149 | 428 | 0.3481 | -13 | c.264 others(22): Show |
p.Glu others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5408/6369 | 2649/3486 | 883/1161 | chr16 | TogoVar | ||
NPIPB13_chr16_30217897_30253479 | 30223954 | TCGGCAGG others(106): Show |
T | frameshift_variant | HIGH | HG00323.hp1 HG00558.hp2 HG00597.hp2 others(28): Show |
a0001a0027a0038others(3): Show | a0001c0001a0001c0004a0001c0018others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(12): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0037others(28): Show | 31 | 145 | 0.2138 | -113 | c.237 others(9): Show |
p.Pro others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 5234/6292 | 2379/3417 | 793/1138 | chr16 | TogoVar | ||
NPIPB13_chr16_30217897_30253479 | 30224067 | C | CCCCCGCA others(6): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(81): Show |
a0002a0003a0004others(28): Show | a0002c0003a0002c0007a0002c0008others(39): Show | a0002c0003t0001a0002c0007t0007a0002c0007t0015others(50): Show | a0002c0003t0001g0059a0002c0003t0001g0061a0002c0003t0001g0068others(81): Show | 84 | 145 | 0.5793 | 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(39): Show | a0001c0001a0001c0004a0001c0018others(54): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(72): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0037others(120): Show | 123 | 145 | 0.8483 | -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 |
a0005a0012a0018others(1): Show | a0005c0005a0005c0010a0012c0015others(2): Show | a0005c0005t0004a0005c0005t0023a0005c0005t0027others(5): Show | a0005c0005t0004g0013a0005c0005t0004g0014a0005c0005t0004g0114others(23): Show | 29 | 382 | 0.0759 | 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 | ||
NPRL3_chr16_80386_143673 | 138304 | AGAGGAGG others(25): Show |
A | splice_acceptor_variant others(2): Show |
HIGH | HG00323.hp1 HG00423.hp2 HG00597.hp2 others(132): Show |
a0001a0002a0008 | a0001c0001a0001c0005a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(132): Show | 135 | 350 | 0.3857 | -32 | c.-67 others(41): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 2/14 | 38 | chr16 | TogoVar | |||||
NUDT11_chrX_51485011_51501592 | 51496443 | ATCCTCGA others(7): Show |
A | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(44): Show | 273 | 274 | 0.9964 | -14 | c.-13 others(19): Show |
p.Met others(3): Show |
NUDT11 | ENSG00000196368.5 | transcript | ENST00000375992.4 | protein_coding | 1/2 | 149/2381 | 1/495 | 1/164 | chrX | TogoVar | ||
NUTM2A_chr10_87220448_87239978 | 87226077 | TC | T | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(378): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(65): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(74): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(158): Show | 381 | 403 | 0.9454 | -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(304): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0010others(5): Show | a0001c0001t0001a0001c0004t0001a0001c0010t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(80): Show | 307 | 436 | 0.7041 | 0 | c.103 others(6): Show |
OAS1 | ENSG00000089127.15 | transcript | ENST00000202917.10 | protein_coding | 5/5 | chr12 | TogoVar | ||||||
OOSP4A_chr11_59959033_59975343 | 59970048 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 412 | 0.0024 | 0 | c.480 others(5): Show |
OOSP4A | ENSG00000285010.2 | transcript | ENST00000645590.2 | protein_coding | 4/4 | 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 | a0001c0001t0000a0001c0004t0000a0001c0006t0000others(1): Show | a0001c0001t0000g0000a0001c0004t0000g0000a0001c0006t0000g0000others(1): Show | 212 | 430 | 0.4930 | 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 | ||
OR13C2_chr9_104599671_104610627 | 104605111 | TGTTA | T | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(171): Show |
a0002a0006a0007others(2): Show | a0002c0001a0002c0005a0002c0010others(4): Show | a0002c0001t0000a0002c0005t0000a0002c0010t0000others(4): Show | a0002c0001t0000g0000a0002c0005t0000g0000a0002c0010t0000g0000others(4): Show | 174 | 412 | 0.4223 | -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 |
a0002a0003a0006others(3): Show | a0002c0001a0002c0005a0002c0010others(8): Show | a0002c0001t0000a0002c0005t0000a0002c0010t0000others(8): Show | a0002c0001t0000g0000a0002c0005t0000g0000a0002c0010t0000g0000others(8): Show | 207 | 412 | 0.5024 | -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(5): Show | a0001c0001a0004c0004a0005c0005others(5): Show | a0001c0001t0000a0004c0004t0000a0005c0005t0000others(5): Show | a0001c0001t0000g0000a0004c0004t0000g0000a0005c0005t0000g0000others(5): Show | 212 | 424 | 0.5000 | -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 | ||
OR13C8_chr9_104564168_104575130 | 104569193 | C | A | stop_gained | HIGH | HG02071.hp1 HG02523.hp2 NA18948.hp2 others(6): Show |
a0003 | a0003c0003a0003c0006 | a0003c0003t0000a0003c0006t0000 | a0003c0003t0000g0000a0003c0006t0000g0000 | 9 | 432 | 0.0208 | 0 | c.26C others(2): Show |
p.Ser others(2): Show |
OR13C8 | ENSG00000186943.1 | transcript | ENST00000335040.1 | protein_coding | 1/1 | 26/963 | 26/963 | 9/320 | chr9 | TogoVar | ||
OR1B1_chr9_122623125_122662627 | 122628962 | G | A | stop_gained | HIGH | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(158): Show |
a0002a0003a0006 | a0002c0002a0002c0016a0002c0017others(2): Show | a0002c0002t0002a0002c0002t0012a0002c0016t0002others(3): Show | a0002c0002t0002g0001a0002c0002t0002g0007a0002c0002t0002g0021others(81): Show | 161 | 420 | 0.3833 | 0 | c.571 others(3): Show |
p.Arg others(4): Show |
OR1B1 | ENSG00000280094.3 | transcript | ENST00000623530.2 | protein_coding | 2/2 | 1104/1941 | 571/954 | 191/317 | chr9 | TogoVar | ||
OR1B1_chr9_122623125_122662627 | 122629491 | C | CA | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(155): Show |
a0001a0008 | a0001c0001a0001c0005a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(8): Show | a0001c0001t0001g0010a0001c0001t0001g0014a0001c0001t0001g0023others(98): Show | 158 | 420 | 0.3762 | 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 | ||
OR1S1_chr11_58207720_58221084 | 58215722 | A | G | stop_lost | HIGH | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(223): Show |
a0000 | a0000c0001a0000c0006a0000c0010others(1): Show | a0000c0001t0001a0000c0001t0006a0000c0001t0010others(3): Show | a0000c0001t0001g0001a0000c0001t0001g0004a0000c0001t0001g0007others(13): Show | 226 | 460 | 0.4913 | 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 | a0001c0002t0001g0001a0001c0002t0001g0046a0001c0002t0001g0114others(80): Show | 220 | 478 | 0.4603 | -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 | ||
OR2J1_chr6_29094490_29107701 | 29101522 | C | T | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(142): Show |
a0003a0006 | a0003c0002a0003c0006a0006c0008 | a0003c0002t0001a0003c0002t0005a0003c0002t0006others(5): Show | a0003c0002t0001g0001a0003c0002t0001g0006a0003c0002t0005g0001others(6): Show | 145 | 445 | 0.3258 | 0 | c.580 others(3): Show |
p.Gln others(4): Show |
OR2J1 | ENSG00000204702.6 | transcript | ENST00000641659.2 | protein_coding | 2/2 | 1132/2311 | 580/939 | 194/312 | chr6 | 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 | a0001c0001t0000a0001c0002t0000a0001c0006t0000others(4): Show | a0001c0001t0000g0000a0001c0002t0000g0000a0001c0006t0000g0000others(4): Show | 276 | 379 | 0.7282 | 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 | ||
OR2T29_chr1_248551912_248567772 | 248559422 | G | A | stop_gained | HIGH | HG00438.hp1 HG00544.hp2 HG00558.hp2 others(93): Show |
a0002a0021 | a0002c0002a0002c0009a0002c0013others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0010others(13): Show | a0002c0002t0002g0002a0002c0002t0002g0005a0002c0002t0002g0008others(21): Show | 96 | 313 | 0.3067 | 0 | c.70C others(2): Show |
p.Gln others(3): Show |
OR2T29 | ENSG00000182783.6 | transcript | ENST00000641069.1 | protein_coding | 2/2 | 127/2637 | 70/948 | 24/315 | chr1 | TogoVar | ||
OR2T35_chr1_248631356_248650278 | 248638301 | T | TCA | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(298): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(96): Show | 301 | 309 | 0.9741 | 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 | ||
OR2T35_chr1_248631356_248650278 | 248638643 | TCAGCACG | T | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(296): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(96): Show | 299 | 309 | 0.9676 | -7 | c.609 others(14): Show |
p.Cys others(5): Show |
OR2T35 | ENSG00000177151.5 | transcript | ENST00000641268.1 | protein_coding | 2/2 | 669/2957 | 609/972 | 203/323 | chr1 | TogoVar | ||
OR4C16_chr11_55567128_55578060 | 55572176 | C | T | stop_gained | HIGH | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(113): Show |
a0002 | a0002c0002a0002c0009a0002c0021others(2): Show | a0002c0002t0000a0002c0009t0000a0002c0021t0000others(2): Show | a0002c0002t0000g0000a0002c0009t0000g0000a0002c0021t0000g0000others(2): Show | 116 | 440 | 0.2636 | 0 | c.49C others(2): Show |
p.Gln others(3): Show |
OR4C16 | ENSG00000279514.2 | transcript | ENST00000623907.1 | protein_coding | 1/1 | 49/933 | 49/933 | 17/310 | chr11 | TogoVar | ||
OR4E1_chr14_21662886_21678818 | 21670346 | TG | T | frameshift_variant | HIGH | HG00323.hp1 HG00609.hp2 HG00639.hp2 others(17): Show |
a0004 | a0004c0004a0004c0013 | a0004c0004t0006a0004c0004t0016a0004c0013t0024 | a0004c0004t0006g0006a0004c0004t0016g0017a0004c0013t0024g0029 | 20 | 454 | 0.0441 | -1 | c.589 others(4): Show |
p.His others(5): Show |
OR4E1 | ENSG00000276240.4 | transcript | ENST00000641792.2 | protein_coding | 2/2 | 1335/3796 | 589/948 | 197/315 | chr14 | 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 | a0001c0002t0000a0001c0005t0000a0001c0008t0000others(10): Show | a0001c0002t0000g0000a0001c0005t0000g0000a0001c0008t0000g0000others(10): Show | 238 | 440 | 0.5409 | -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 | |
OR4M2B_chr15_21632909_21643992 | 21638388 | C | T | stop_gained | HIGH | HG00609.hp2 HG02071.hp1 HG02135.hp1 others(9): Show |
a0006 | a0006c0007a0006c0011 | a0006c0007t0001a0006c0011t0001 | a0006c0007t0001g0000a0006c0011t0001g0000 | 12 | 215 | 0.0558 | 0 | c.382 others(3): Show |
p.Arg others(4): Show |
OR4M2B | ENSG00000182974.3 | transcript | ENST00000332663.3 | protein_coding | 1/1 | 480/1084 | 382/942 | 128/313 | chr15 | TogoVar | ||
OR4X1_chr11_48258861_48269778 | 48264679 | T | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(224): Show |
a0002a0003a0004others(4): Show | a0002c0002a0002c0005a0002c0007others(7): Show | a0002c0002t0000a0002c0005t0000a0002c0007t0000others(7): Show | a0002c0002t0000g0000a0002c0005t0000g0000a0002c0007t0000g0000others(7): Show | 227 | 402 | 0.5647 | 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(135): Show |
a0002a0010a0017 | a0002c0002a0010c0008a0017c0017 | a0002c0002t0001a0002c0002t0008a0002c0002t0022others(8): Show | a0002c0002t0001g0001a0002c0002t0008g0009a0002c0002t0022g0017others(8): Show | 138 | 446 | 0.3094 | -5680 | c.-51 others(9): Show |
OR51A4 | ENSG00000205497.5 | transcript | ENST00000641898.1 | protein_coding | 1/2 | 298/4393 | chr11 | TogoVar | |||||
OR51Q1_chr11_5417111_5428206 | 5422906 | C | T | stop_gained | HIGH | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(212): Show |
a0002a0003a0006 | a0002c0002a0003c0003a0006c0007 | a0002c0002t0001a0002c0002t0003a0003c0003t0001others(1): Show | a0002c0002t0001g0000a0002c0002t0003g0000a0003c0003t0001g0000others(1): Show | 215 | 454 | 0.4736 | 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 | ||
OR52B4_chr11_4362263_4373386 | 4368174 | AG | A | frameshift_variant | HIGH | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(171): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0000a0002c0002t0004g0000 | 174 | 466 | 0.3734 | -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 | ||
OR52J3_chr11_5041526_5052461 | 5047432 | C | T | stop_gained | HIGH | HG00639.hp1 HG00642.hp1 HG00642.hp2 others(46): Show |
a0003a0005a0009 | a0003c0003a0005c0005a0009c0015 | a0003c0003t0000a0005c0005t0000a0009c0015t0000 | a0003c0003t0000g0000a0005c0005t0000g0000a0009c0015t0000g0000 | 49 | 448 | 0.1094 | 0 | c.907 others(3): Show |
p.Arg others(4): Show |
OR52J3 | ENSG00000205495.1 | transcript | ENST00000380370.1 | protein_coding | 1/1 | 907/936 | 907/936 | 303/311 | chr11 | TogoVar | ||
OR5AR1_chr11_56658686_56669618 | 56663740 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0000a0001c0003t0000a0001c0005t0000others(2): Show | a0001c0001t0000g0000a0001c0003t0000g0000a0001c0005t0000g0000others(2): Show | 303 | 432 | 0.7014 | 0 | c.55C others(2): Show |
p.Gln others(3): Show |
OR5AR1 | ENSG00000172459.5 | transcript | ENST00000624596.2 | protein_coding | 1/1 | 55/933 | 55/933 | 19/310 | chr11 | TogoVar | ||
OR5K3_chr3_98385666_98396631 | 98391562 | G | GA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(89): Show |
a0000 | a0000c0002a0000c0009 | a0000c0002t0000a0000c0009t0000 | a0000c0002t0000g0000a0000c0009t0000g0000 | 92 | 472 | 0.1949 | 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 |
a0002a0008 | a0002c0002a0008c0009 | a0002c0002t0000a0008c0009t0000 | a0002c0002t0000g0000a0008c0009t0000g0000 | 103 | 452 | 0.2279 | -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 | |
OR6C1_chr12_55309343_55327364 | 55320622 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(169): Show |
a0002 | a0002c0002a0002c0005a0002c0007others(2): Show | a0002c0002t0001a0002c0005t0002a0002c0005t0004others(3): Show | a0002c0002t0001g0001a0002c0002t0001g0002a0002c0002t0001g0003others(50): Show | 172 | 474 | 0.3629 | 1 | c.24d others(3): Show |
p.Glu others(3): Show |
OR6C1 | ENSG00000205330.4 | transcript | ENST00000642104.1 | protein_coding | 2/2 | 315/2055 | 25/939 | 9/312 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
OR7G3_chr19_9121012_9131950 | 9126022 | G | GATGGT | frameshift_variant | HIGH | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(174): Show |
a0000a0002a0003others(1): Show | a0000c0002a0000c0007a0000c0014others(3): Show | a0000c0002t0000a0000c0007t0000a0000c0014t0000others(3): Show | a0000c0002t0000g0000a0000c0007t0000g0000a0000c0014t0000g0000others(3): Show | 177 | 402 | 0.4403 | 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 | ||
OR8K1_chr11_56341039_56351998 | 56346040 | T | C | start_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(348): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0000a0001c0002t0000a0001c0004t0000others(8): Show | a0001c0001t0000g0000a0001c0002t0000g0000a0001c0004t0000g0000others(8): Show | 351 | 437 | 0.8032 | 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 | a0004c0004t0000a0004c0021t0000a0007c0023t0000 | a0004c0004t0000g0000a0004c0021t0000g0000a0007c0023t0000g0000 | 27 | 364 | 0.0742 | 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(7598): Show |
stop_gained others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(127): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0000a0001c0013t0000 | a0001c0001t0000g0000a0001c0013t0000g0000 | 130 | 364 | 0.3571 | 7605 | c.492 others(7612): Show |
p.Phe others(7618): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 493/930 | 493/930 | 165/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
OTOF_chr2_26452203_26483124 | 26470592 | C | T | splice_donor_variant others(1): Show |
HIGH | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 330 | 0.0030 | 0 | c.172 others(6): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000339598.8 | protein_coding | 15/28 | chr2 | TogoVar | ||||||
OTOF_chr2_26452203_26563756 | 26470592 | C | T | splice_donor_variant others(1): Show |
HIGH | HG02071.hp2 | a0004 | a0004c0018 | a0004c0018t0001 | a0004c0018t0001g0136 | 1 | 284 | 0.0035 | 0 | c.402 others(6): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000272371.7 | protein_coding | 32/46 | chr2 | TogoVar | ||||||
OXCT2_chr1_39764523_39776348 | 39770494 | GA | G | frameshift_variant | HIGH | HG00597.hp2 HG00609.hp2 HG00621.hp2 others(37): Show |
a0003a0006a0007others(2): Show | a0003c0004a0003c0008a0003c0012others(5): Show | a0003c0004t0004a0003c0008t0001a0003c0012t0004others(5): Show | a0003c0004t0004g0000a0003c0008t0001g0000a0003c0012t0004g0000others(5): Show | 40 | 454 | 0.0881 | -1 | c.761 others(4): Show |
p.Phe others(5): Show |
OXCT2 | ENSG00000198754.5 | transcript | ENST00000327582.5 | protein_coding | 1/1 | 854/1826 | 761/1554 | 254/517 | chr1 | TogoVar | ||
P2RX5_chr17_3668227_3701155 | 3690982 | TG | T | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(206): Show | 219 | 362 | 0.6050 | -1 | c.333 others(4): Show |
p.Asn others(5): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3/12 | 483/2060 | 333/1269 | 111/422 | chr17 | TogoVar | ||
PALD1_chr10_70473767_70573450 | 70529208 | G | GC | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00280.hp2 HG00609.hp1 others(47): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0035a0001c0001t0001g0044a0001c0001t0001g0050others(47): Show | 50 | 308 | 0.1623 | 1 | c.186 others(6): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PANK2_chr20_3884387_3934887 | 3889432 | T | A | start_lost | HIGH | HG00408.hp2 HG00735.hp2 HG01070.hp1 others(43): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0003t0004a0001c0003t0010others(11): Show | a0001c0003t0001g0034a0001c0003t0004g0001a0001c0003t0004g0002others(39): Show | 46 | 422 | 0.1090 | 0 | c.2T> others(1): Show |
p.Leu others(2): Show |
PANK2 | ENSG00000125779.24 | transcript | ENST00000610179.7 | protein_coding | 1/7 | 46/8020 | 2/1383 | 1/460 | chr20 | TogoVar | ||
PATE4_chr11_125828316_125845072 | 125837866 | A | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(193): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(21): Show | 196 | 424 | 0.4623 | 0 | c.59- others(4): Show |
PATE4 | ENSG00000237353.7 | transcript | ENST00000457514.3 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17589720 | G | A | stop_gained | HIGH | HG02071.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0325 | 1 | 400 | 0.0025 | 0 | c.308 others(3): Show |
p.Trp others(4): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 2/6 | 345/1508 | 308/1128 | 103/375 | chr8 | TogoVar |