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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NALF2_chrX_69499326_69537508 | 69505402 | G | GC | frameshift_variant | HIGH | NA19089.hp1 | a0018 | a0018c0008 | a0018c0008t0034 | a0018c0008t0034g0150 | 1 | 322 | 0.0031 | 1 | c.121 others(4): Show |
p.Gln others(4): Show |
NALF2 | ENSG00000130054.5 | transcript | ENST00000252338.5 | protein_coding | 1/3 | 1079/4928 | 122/1419 | 41/472 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
NALF2_chrX_69499326_69537508 | 69505486 | G | GC | frameshift_variant | HIGH | NA19089.hp1 | a0018 | a0018c0008 | a0018c0008t0034 | a0018c0008t0034g0150 | 1 | 322 | 0.0031 | 1 | c.208 others(4): Show |
p.Arg others(4): Show |
NALF2 | ENSG00000130054.5 | transcript | ENST00000252338.5 | protein_coding | 1/3 | 1166/4928 | 209/1419 | 70/472 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
NALF2_chrX_69499326_69537508 | 69505611 | C | CA | frameshift_variant | HIGH | NA19089.hp1 | a0018 | a0018c0008 | a0018c0008t0034 | a0018c0008t0034g0150 | 1 | 322 | 0.0031 | 1 | c.329 others(8): Show |
p.Gly others(5): Show |
NALF2 | ENSG00000130054.5 | transcript | ENST00000252338.5 | protein_coding | 1/3 | 1287/4928 | 330/1419 | 110/472 | chrX | TogoVar | ||
NALF2_chrX_69499326_69537508 | 69505655 | G | GCC | frameshift_variant | HIGH | NA19089.hp1 | a0018 | a0018c0008 | a0018c0008t0034 | a0018c0008t0034g0150 | 1 | 322 | 0.0031 | 2 | c.377 others(9): Show |
p.Ala others(5): Show |
NALF2 | ENSG00000130054.5 | transcript | ENST00000252338.5 | protein_coding | 1/3 | 1336/4928 | 379/1419 | 127/472 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
NALF2_chrX_69499326_69537508 | 69505769 | G | GC | frameshift_variant | HIGH | NA19089.hp1 | a0018 | a0018c0008 | a0018c0008t0034 | a0018c0008t0034g0150 | 1 | 322 | 0.0031 | 1 | c.494 others(4): Show |
p.Leu others(5): Show |
NALF2 | ENSG00000130054.5 | transcript | ENST00000252338.5 | protein_coding | 1/3 | 1452/4928 | 495/1419 | 165/472 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
NALF2_chrX_69499326_69537508 | 69505894 | C | CCT | frameshift_variant | HIGH | NA19089.hp1 | a0018 | a0018c0008 | a0018c0008t0034 | a0018c0008t0034g0150 | 1 | 322 | 0.0031 | 2 | c.612 others(9): Show |
p.Trp others(5): Show |
NALF2 | ENSG00000130054.5 | transcript | ENST00000252338.5 | protein_coding | 1/3 | 1570/4928 | 613/1419 | 205/472 | chrX | TogoVar | ||
NALF2_chrX_69499326_69537508 | 69505991 | T | TC | frameshift_variant | HIGH | NA19089.hp1 | a0018 | a0018c0008 | a0018c0008t0034 | a0018c0008t0034g0150 | 1 | 322 | 0.0031 | 1 | c.711 others(4): Show |
p.Gly others(5): Show |
NALF2 | ENSG00000130054.5 | transcript | ENST00000252338.5 | protein_coding | 1/3 | 1669/4928 | 712/1419 | 238/472 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
NALF2_chrX_69499326_69537508 | 69506013 | G | GC | frameshift_variant | HIGH | NA19089.hp1 | a0018 | a0018c0008 | a0018c0008t0034 | a0018c0008t0034g0150 | 1 | 322 | 0.0031 | 1 | c.732 others(4): Show |
p.Asn others(5): Show |
NALF2 | ENSG00000130054.5 | transcript | ENST00000252338.5 | protein_coding | 1/3 | 1690/4928 | 733/1419 | 245/472 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
NBPF11_chr1_148097151_148157281 | 148105470 | C | CATCT | frameshift_variant | HIGH | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(153): Show |
a0000a0002 | a0000c0002a0000c0003a0000c0004others(17): Show | a0000c0002t0002a0000c0002t0014a0000c0002t0018others(25): Show | a0000c0002t0002g0001a0000c0002t0002g0007a0000c0002t0002g0008others(145): Show | 156 | 388 | 0.4021 | 4 | c.236 others(13): Show |
p.Val others(5): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 22/24 | 3441/5423 | 2361/2598 | 787/865 | chr1 | TogoVar | ||
NEFH_chr22_29475218_29496390 | 29489267 | G | GAAGTCAA others(39): Show |
frameshift_variant others(1): Show |
HIGH | NA19089.hp2 | a0017 | a0017c0023 | a0017c0023t0001 | a0017c0023t0001g0104 | 1 | 448 | 0.0022 | 46 | c.163 others(55): Show |
p.Lys others(5): Show |
NEFH | ENSG00000100285.10 | transcript | ENST00000310624.7 | protein_coding | 4/4 | 1721/3795 | 1676/3063 | 559/1020 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
NEK3_chr13_52127647_52164597 | 52143914 | CT | C | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(211): Show |
a0001a0006a0010 | a0001c0001a0006c0012a0010c0010 | a0001c0001t0001a0001c0001t0006a0006c0012t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(99): Show | 214 | 398 | 0.5377 | -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 | ||
NEUROD1_chr2_181671467_181685517 | 181678846 | G | C | stop_gained | HIGH | NA19089.hp1 | a0005 | a0005c0008 | a0005c0008t0008 | a0005c0008t0008g0074 | 1 | 380 | 0.0026 | 0 | c.15C others(2): Show |
p.Tyr others(2): Show |
NEUROD1 | ENSG00000162992.5 | transcript | ENST00000295108.4 | protein_coding | 2/2 | 114/2493 | 15/1071 | 5/356 | chr2 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29382018 | G | GAACCCAC others(6): Show |
frameshift_variant | HIGH | HG00423.hp2 HG01074.hp1 HG01255.hp2 others(14): Show |
a0010a0028a0040others(4): Show | a0010c0009a0010c0085a0028c0026others(5): Show | a0010c0009t0004a0010c0009t0022a0010c0085t0004others(6): Show | a0010c0009t0004g0002a0010c0009t0004g0059a0010c0009t0004g0062others(11): Show | 17 | 428 | 0.0397 | 13 | c.291 others(22): Show |
p.Pro others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5660/6369 | 2913/3486 | 971/1161 | chr16 | TogoVar | ||
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 | ||
NPIPB2_chr16_11922373_11947045 | 11933617 | CAT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(394): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(34): Show | a0001c0001t0000a0001c0003t0000a0001c0004t0000others(34): Show | a0001c0001t0000g0001a0001c0001t0000g0002a0001c0001t0000g0006others(328): Show | 397 | 414 | 0.9589 | -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 | ||
NPPA_chr1_11840709_11852783 | 11846011 | A | G | stop_lost | HIGH | HG00140.hp2 HG00642.hp2 HG01074.hp1 others(62): Show |
a0000 | a0000c0002 | a0000c0002t0002a0000c0002t0004 | a0000c0002t0002g0004a0000c0002t0002g0006a0000c0002t0002g0007others(7): Show | 65 | 366 | 0.1776 | 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(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 | ||||||
OFD1_chrX_13729748_13774357 | 13756599 | GC | G | frameshift_variant | HIGH | NA19089.hp1 | a0009 | a0009c0007 | a0009c0007t0001 | a0009c0007t0001g0070 | 1 | 327 | 0.0031 | -1 | c.124 others(5): Show |
p.Gln others(5): Show |
OFD1 | ENSG00000046651.16 | transcript | ENST00000340096.11 | protein_coding | 13/23 | 1570/3612 | 1246/3039 | 416/1012 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OFD1_chrX_13729748_13774357 | 13758395 | G | GT | frameshift_variant | HIGH | NA19089.hp1 | a0009 | a0009c0007 | a0009c0007t0001 | a0009c0007t0001g0070 | 1 | 327 | 0.0031 | 1 | c.160 others(5): Show |
p.Leu others(5): Show |
OFD1 | ENSG00000046651.16 | transcript | ENST00000340096.11 | protein_coding | 15/23 | 1929/3612 | 1605/3039 | 535/1012 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OLFM1_chr9_135082668_135126180 | 135119911 | C | A | stop_gained | HIGH | NA19089.hp2 | a0002 | a0002c0009 | a0002c0009t0023 | a0002c0009t0023g0278 | 1 | 360 | 0.0028 | 0 | c.119 others(4): Show |
p.Tyr others(4): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 6/6 | 1513/2782 | 1191/1458 | 397/485 | chr9 | TogoVar | ||
OR10AD1_chr12_48197339_48208292 | 48203092 | C | CA | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(74): Show |
a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0000 | 77 | 414 | 0.1860 | 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 | ||
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 | ||
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 | ||
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 | ||
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 | ||
OR4E1_chr14_21662886_21678818 | 21670348 | G | GGT | frameshift_variant | HIGH | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(152): Show |
a0001a0010a0012 | a0001c0001a0001c0012a0010c0017others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0012others(11): Show | 155 | 454 | 0.3414 | 2 | c.586 others(9): Show |
p.His others(5): Show |
OR4E1 | ENSG00000276240.4 | transcript | ENST00000641792.2 | protein_coding | 2/2 | 1333/3796 | 587/948 | 196/315 | chr14 | 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 | ||
OR4X2_chr11_48240104_48251015 | 48245184 | C | G | stop_gained | HIGH | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(76): Show |
a0002a0006 | a0002c0002a0006c0009 | a0002c0002t0000a0006c0009t0000 | a0002c0002t0000g0000a0006c0009t0000g0000 | 79 | 438 | 0.1804 | 0 | c.81C others(2): Show |
p.Tyr others(3): Show |
OR4X2 | ENSG00000172208.7 | transcript | ENST00000624868.2 | protein_coding | 1/1 | 81/912 | 81/912 | 27/303 | 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 | |||||
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 | ||
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 | a0004c0006t0001g0000a0004c0017t0001g0000a0004c0018t0001g0000others(1): Show | 48 | 470 | 0.1021 | 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 | |
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 | ||
OR5H15_chr3_98161696_98174774 | 98168999 | AT | A | frameshift_variant | HIGH | HG00323.hp2 HG00438.hp1 HG00673.hp1 others(14): Show |
a0005 | a0005c0005a0005c0018a0005c0019 | a0005c0005t0001a0005c0018t0001a0005c0019t0001 | a0005c0005t0001g0002a0005c0018t0001g0002a0005c0019t0001g0002 | 17 | 444 | 0.0383 | -1 | c.307 others(4): Show |
p.Ser others(5): Show |
OR5H15 | ENSG00000233412.6 | transcript | ENST00000641450.1 | protein_coding | 2/2 | 461/1229 | 307/942 | 103/313 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
OTUD6A_chrX_70057457_70069179 | 70062762 | GC | G | frameshift_variant | HIGH | NA19089.hp1 | a0008 | a0008c0006 | a0008c0006t0013 | a0008c0006t0013g0000 | 1 | 336 | 0.0030 | -1 | c.240 others(4): Show |
p.Lys others(4): Show |
OTUD6A | ENSG00000189401.3 | transcript | ENST00000338352.3 | protein_coding | 1/1 | 308/1723 | 240/867 | 80/288 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OTUD6A_chrX_70057457_70069179 | 70062777 | G | GA | frameshift_variant | HIGH | NA19089.hp1 | a0008 | a0008c0006 | a0008c0006t0013 | a0008c0006t0013g0000 | 1 | 336 | 0.0030 | 1 | c.257 others(4): Show |
p.Asn others(4): Show |
OTUD6A | ENSG00000189401.3 | transcript | ENST00000338352.3 | protein_coding | 1/1 | 326/1723 | 258/867 | 86/288 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OTUD6A_chrX_70057457_70069179 | 70062788 | TC | T | frameshift_variant | HIGH | NA19089.hp1 | a0008 | a0008c0006 | a0008c0006t0013 | a0008c0006t0013g0000 | 1 | 336 | 0.0030 | -1 | c.268 others(4): Show |
p.Arg others(4): Show |
OTUD6A | ENSG00000189401.3 | transcript | ENST00000338352.3 | protein_coding | 1/1 | 336/1723 | 268/867 | 90/288 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OTUD6A_chrX_70057457_70069179 | 70062847 | G | GC | frameshift_variant | HIGH | NA19089.hp1 | a0008 | a0008c0006 | a0008c0006t0013 | a0008c0006t0013g0000 | 1 | 336 | 0.0030 | 1 | c.325 others(4): Show |
p.Gln others(5): Show |
OTUD6A | ENSG00000189401.3 | transcript | ENST00000338352.3 | protein_coding | 1/1 | 394/1723 | 326/867 | 109/288 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OTUD6A_chrX_70057457_70069179 | 70062931 | TG | T | frameshift_variant | HIGH | NA19089.hp1 | a0008 | a0008c0006 | a0008c0006t0013 | a0008c0006t0013g0000 | 1 | 336 | 0.0030 | -1 | c.410 others(4): Show |
p.Gly others(5): Show |
OTUD6A | ENSG00000189401.3 | transcript | ENST00000338352.3 | protein_coding | 1/1 | 478/1723 | 410/867 | 137/288 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OTUD6A_chrX_70057457_70069179 | 70062966 | GC | G | frameshift_variant | HIGH | NA19075.hp1 NA19089.hp1 |
a0008a0009 | a0008c0006a0009c0014 | a0008c0006t0013a0009c0014t0004 | a0008c0006t0013g0000a0009c0014t0004g0000 | 2 | 336 | 0.0060 | -1 | c.444 others(4): Show |
p.Asp others(5): Show |
OTUD6A | ENSG00000189401.3 | transcript | ENST00000338352.3 | protein_coding | 1/1 | 512/1723 | 444/867 | 148/288 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OTUD6A_chrX_70057457_70069179 | 70063117 | T | TC | frameshift_variant | HIGH | NA19089.hp1 | a0008 | a0008c0006 | a0008c0006t0013 | a0008c0006t0013g0000 | 1 | 336 | 0.0030 | 1 | c.594 others(4): Show |
p.Gly others(5): Show |
OTUD6A | ENSG00000189401.3 | transcript | ENST00000338352.3 | protein_coding | 1/1 | 663/1723 | 595/867 | 199/288 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
OTUD6A_chrX_70057457_70069179 | 70063376 | C | CA | frameshift_variant | HIGH | NA19089.hp1 | a0008 | a0008c0006 | a0008c0006t0013 | a0008c0006t0013g0000 | 1 | 336 | 0.0030 | 1 | c.852 others(8): Show |
p.Pro others(5): Show |
OTUD6A | ENSG00000189401.3 | transcript | ENST00000338352.3 | protein_coding | 1/1 | 921/1723 | 853/867 | 285/288 | chrX | 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 | ||||||
PATZ1_chr22_31320804_31351346 | 31344355 | CTGGCAGA others(9): Show |
C | frameshift_variant | HIGH | NA19089.hp2 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0138 | 1 | 386 | 0.0026 | -16 | c.123 others(25): Show |
p.Lys others(5): Show |
PATZ1 | ENSG00000100105.18 | transcript | ENST00000266269.10 | protein_coding | 1/5 | 1991/3895 | 1232/2064 | 411/687 | chr22 | TogoVar |