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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | ||
OR1B1_chr9_122623125_122662627 | 122628962 | G | A | stop_gained | HIGH | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(158): Show |
a0002a0003a0006 | a0002c0002a0002c0016a0002c0017others(2): Show | a0002c0002t0002a0002c0002t0011a0002c0016t0002others(3): Show | a0002c0002t0002g0001 a0002c0002t0002g0007 a0002c0002t0002g0021 others(81): Show |
161 | 418 | 0.3852 | 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(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 | ||
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 | |||
OR2J1_chr6_29094490_29107701 | 29101522 | C | T | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(142): Show |
a0003a0006 | a0003c0002a0003c0006a0006c0008 | a0003c0002t0001a0003c0002t0005a0003c0002t0006others(4): Show | a0003c0002t0001g0001 a0003c0002t0001g0006 a0003c0002t0005g0001 others(5): Show |
145 | 444 | 0.3266 | 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 | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(4): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0006t0001g0000 others(4): Show |
276 | 378 | 0.7302 | 0 | c.867 others(3): Show |
p.Tyr others(4): Show |
OR2L8 | ENSG00000279263.1 | transcript | ENST00000623922.1 | protein_coding | 1/1 | 867/939 | 867/939 | 289/312 | chr1 | TogoVar | |||
OR2T27_chr1_248644838_248660528 | 248650802 | AAG | A | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp2 HG01258.hp2 others(16): Show |
a0004 | a0004c0008a0004c0032a0004c0033others(5): Show | a0004c0008t0002a0004c0008t0009a0004c0032t0002others(7): Show | a0004c0008t0002g0007 a0004c0008t0002g0027 a0004c0008t0002g0048 others(9): Show |
19 | 382 | 0.0497 | -2 | c.81_ others(7): Show |
p.Phe others(4): Show |
OR2T27 | ENSG00000187701.5 | transcript | ENST00000460972.4 | protein_coding | 2/2 | 171/1136 | 81/954 | 27/317 | chr1 | TogoVar | |||
OR4C11_chr11_55597360_55612645 | 55603905 | G | A | stop_gained | HIGH | HG00733.hp2 HG01081.hp2 HG01346.hp2 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0006 a0003c0003t0001g0019 a0003c0003t0001g0034 |
9 | 236 | 0.0381 | 0 | c.469 others(3): Show |
p.Gln others(4): Show |
OR4C11 | ENSG00000172188.6 | transcript | ENST00000641580.1 | protein_coding | 4/4 | 1192/2737 | 469/933 | 157/310 | chr11 | 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 | ||
OR4S1_chr11_48301223_48312152 | 48305936 | TTATTATA others(675): Show |
T | start_lost others(1): Show |
HIGH | HG01346.hp2 HG02735.hp2 NA20129.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0000 | 3 | 364 | 0.0082 | -682 | c.-28 others(8): Show |
p.Met others(11): Show |
OR4S1 | ENSG00000176555.1 | transcript | ENST00000319988.1 | protein_coding | 1/1 | 1/930 | 1/309 | chr11 | 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 | |||
OR4X2_chr11_48240104_48251015 | 48245184 | C | G | stop_gained | HIGH | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(75): Show |
a0002a0006 | a0002c0002a0006c0009 | a0002c0002t0001a0006c0009t0001 | a0002c0002t0001g0000 a0006c0009t0001g0000 |
78 | 436 | 0.1789 | 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(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 | ||||||
OR51I2_chr11_5444323_5461518 | 5454201 | T | TCA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(52): Show |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0025a0003c0003t0027others(1): Show | a0003c0003t0003g0001 a0003c0003t0003g0024 a0003c0003t0003g0040 others(13): Show |
55 | 480 | 0.1146 | 2 | c.714 others(9): Show |
p.Asn others(5): Show |
OR51I2 | ENSG00000187918.6 | transcript | ENST00000641930.1 | protein_coding | 2/2 | 988/3302 | 716/939 | 239/312 | INFO_REALIGN_3_PRIME | 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 | |||
OR5M1_chr11_56604236_56619874 | 56613070 | CCAGA | C | frameshift_variant | HIGH | HG00140.hp1 HG00438.hp1 HG00642.hp2 others(62): Show |
a0003 | a0003c0003a0003c0012 | a0003c0003t0002a0003c0003t0021a0003c0012t0002 | a0003c0003t0002g0002 a0003c0003t0002g0008 a0003c0003t0002g0013 others(5): Show |
65 | 384 | 0.1693 | -4 | c.429 others(11): Show |
p.Cys others(5): Show |
OR5M1 | ENSG00000255012.3 | transcript | ENST00000641076.1 | protein_coding | 2/2 | 467/4302 | 429/948 | 143/315 | chr11 | 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 | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(44): Show |
172 | 472 | 0.3644 | 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 |
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 | |||
OR8B3_chr11_124390534_124404024 | 124396801 | A | AG | frameshift_variant | HIGH | HG01167.hp2 HG01169.hp1 HG01255.hp1 others(8): Show |
a0005 | a0005c0005a0005c0020 | a0005c0005t0001a0005c0020t0001 | a0005c0005t0001g0007 a0005c0020t0001g0041 |
11 | 449 | 0.0245 | 1 | c.550 others(4): Show |
p.Leu others(5): Show |
OR8B3 | ENSG00000284609.2 | transcript | ENST00000641139.1 | protein_coding | 2/2 | 902/2170 | 550/942 | 184/313 | chr11 | 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 | ||
P2RX5_chr17_3668227_3701155 | 3690982 | TG | T | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(196): Show |
218 | 360 | 0.6056 | -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 | |||
PADI6_chr1_17367196_17406699 | 17398662 | C | CCCCACCC others(1): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00323.hp1 HG00408.hp2 HG00438.hp2 others(49): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0003others(9): Show | a0001c0001t0002g0101 a0001c0001t0002g0177 a0001c0001t0004g0129 others(34): Show |
52 | 227 | 0.2291 | 8 | c.169 others(22): Show |
PADI6 | ENSG00000276747.1 | transcript | ENST00000619609.1 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATE4_chr11_125828316_125845072 | 125837866 | A | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(193): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(21): Show |
196 | 422 | 0.4645 | 0 | c.59- others(4): Show |
PATE4 | ENSG00000237353.7 | transcript | ENST00000457514.3 | protein_coding | 1/2 | chr11 | TogoVar | |||||||
PCDHA8_chr5_140836187_141017347 | 140842552 | AGCGCCCT others(16784): Show |
A | frameshift_variant others(3): Show |
HIGH | HG01106.hp1 HG01346.hp2 HG01978.hp1 others(12): Show |
a0003a0006a0012 | a0003c0003a0006c0006a0012c0010 | a0003c0003t0001a0006c0006t0001a0012c0010t0001 | a0003c0003t0001g0002 a0003c0003t0001g0006 a0003c0003t0001g0007 others(12): Show |
15 | 256 | 0.0586 | -16791 | c.123 others(15): Show |
p.Ser others(5): Show |
PCDHA8 | ENSG00000204962.6 | transcript | ENST00000531613.2 | protein_coding | 1/4 | 1367/5398 | 1232/2853 | 411/950 | chr5 | TogoVar | |||
PCSK6_chr15_101298933_101494707 | 101489575 | G | GC | frameshift_variant | HIGH | HG00597.hp1 HG00597.hp2 HG01175.hp1 others(8): Show |
a0004 | a0004c0025a0004c0026a0004c0027others(5): Show | a0004c0025t0001a0004c0026t0001a0004c0026t0016others(6): Show | a0004c0025t0001g0324 a0004c0025t0001g0325 a0004c0026t0001g0331 others(8): Show |
11 | 332 | 0.0331 | 1 | c.95d others(3): Show |
p.Ala others(4): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 1/22 | 132/4272 | 95/2910 | 32/969 | chr15 | TogoVar | |||
PGPEP1L_chr15_98963229_99012792 | 98968575 | A | AC | frameshift_variant | HIGH | HG00280.hp2 HG00423.hp1 HG00438.hp2 others(165): Show |
a0002 | a0002c0002a0002c0005a0002c0010 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(16): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0004 others(158): Show |
168 | 396 | 0.4242 | 1 | c.331 others(4): Show |
p.Val others(5): Show |
PGPEP1L | ENSG00000183571.11 | transcript | ENST00000535714.2 | protein_coding | 5/5 | 1134/1481 | 331/429 | 111/142 | chr15 | TogoVar | |||
PITRM1_chr10_3132728_3177782 | 3166375 | T | TGCACGCT others(18): Show |
frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(276): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(43): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0002others(44): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(185): Show |
279 | 442 | 0.6312 | 25 | c.271 others(32): Show |
p.Gln others(4): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 4/27 | 281/3427 | 271/3114 | 91/1037 | chr10 | TogoVar | |||
PKD1_chr16_2083708_2140898 | 2103757 | C | CG | frameshift_variant | HIGH | HG01069.hp2 HG01099.hp1 HG01346.hp2 others(11): Show |
a0003a0029a0040others(3): Show | a0003c0042a0003c0043a0003c0076others(11): Show | a0003c0042t0011a0003c0043t0001a0003c0076t0001others(11): Show | a0003c0042t0011g0203 a0003c0043t0001g0206 a0003c0076t0001g0025 others(11): Show |
14 | 213 | 0.0657 | 1 | c.829 others(5): Show |
p.Arg others(6): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 23/46 | 8508/14140 | 8299/12912 | 2767/4303 | chr16 | TogoVar | |||
PLD4_chr14_104919879_104938236 | 104932941 | C | T | stop_gained | HIGH | HG01346.hp1 | a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0009 | 1 | 424 | 0.0024 | 0 | c.149 others(4): Show |
p.Gln others(4): Show |
PLD4 | ENSG00000166428.14 | transcript | ENST00000392593.9 | protein_coding | 11/11 | 1610/1905 | 1498/1521 | 500/506 | chr14 | TogoVar | |||
PLEKHA2_chr8_38896346_38978912 | 38901439 | C | CG | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(333): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0014 others(330): Show |
336 | 372 | 0.9032 | 1 | c.-24 others(6): Show |
PLEKHA2 | ENSG00000169499.15 | transcript | ENST00000617275.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PLXNC1_chr12_94143577_94312675 | 94303749 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG01255.hp2 HG01346.hp1 HG01496.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0024 | a0001c0001t0002a0005c0024t0002 | a0001c0001t0002g0032 a0001c0001t0002g0041 a0001c0001t0002g0095 others(1): Show |
4 | 226 | 0.0177 | 1 | c.438 others(7): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 28/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PMIS2_chr19_35581173_35592296 | 35586327 | CT | C | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(69): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0009 others(2): Show |
72 | 442 | 0.1629 | -1 | c.69d others(3): Show |
p.Thr others(4): Show |
PMIS2 | ENSG00000283758.2 | transcript | ENST00000640449.2 | protein_coding | 1/2 | 156/690 | 69/453 | 23/150 | chr19 | TogoVar | |||
POLR3B_chr12_106352748_106515198 | 106427179 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00642.hp1 others(55): Show |
a0001a0004 | a0001c0001a0001c0011a0004c0016 | a0001c0001t0001a0001c0001t0009a0001c0011t0001others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(55): Show |
58 | 158 | 0.3671 | 1 | c.110 others(7): Show |
POLR3B | ENSG00000013503.10 | transcript | ENST00000228347.9 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PRAMEF33_chr1_13298539_13313907 | 13307108 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show |
a0001a0003a0023others(2): Show | a0001c0001a0001c0003a0001c0005others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(36): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0034 others(62): Show |
245 | 416 | 0.5889 | 0 | c.758 others(3): Show |
p.Trp others(4): Show |
PRAMEF33 | ENSG00000237700.2 | transcript | ENST00000437300.2 | protein_coding | 3/4 | 831/1518 | 758/1425 | 253/474 | chr1 | TogoVar | |||
PRR23D1_chr8_7534627_7547450 | 7541827 | AG | A | frameshift_variant | HIGH | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(57): Show |
a0002a0006a0008others(2): Show | a0002c0001a0006c0007a0008c0011others(2): Show | a0002c0001t0003a0002c0001t0004a0002c0001t0006others(8): Show | a0002c0001t0003g0001 a0002c0001t0003g0012 a0002c0001t0004g0001 others(11): Show |
60 | 166 | 0.3614 | -1 | c.790 others(4): Show |
p.Val others(5): Show |
PRR23D1 | ENSG00000255251.2 | transcript | ENST00000533250.2 | protein_coding | 4/4 | 968/1588 | 790/840 | 264/279 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||
PSG5_chr19_43162743_43191536 | 43184966 | A | T | stop_gained | HIGH | HG01346.hp2 | a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0103 | 1 | 428 | 0.0023 | 0 | c.246 others(3): Show |
p.Tyr others(3): Show |
PSG5 | ENSG00000204941.14 | transcript | ENST00000342951.11 | protein_coding | 2/6 | 377/1640 | 246/1008 | 82/335 | chr19 | TogoVar | |||
PSG8_chr19_42749233_42770678 | 42763988 | AG | A | frameshift_variant | HIGH | HG00280.hp1 HG00609.hp2 HG00738.hp2 others(33): Show |
a0003a0009a0011others(3): Show | a0003c0003a0003c0005a0003c0013others(6): Show | a0003c0003t0001a0003c0005t0001a0003c0013t0001others(6): Show | a0003c0003t0001g0008 a0003c0003t0001g0024 a0003c0003t0001g0157 others(17): Show |
36 | 436 | 0.0826 | -1 | c.357 others(4): Show |
p.Tyr others(5): Show |
PSG8 | ENSG00000124467.20 | transcript | ENST00000306511.5 | protein_coding | 2/5 | 454/1440 | 357/1281 | 119/426 | chr19 | TogoVar | |||
PSORS1C1_chr6_31109800_31145092 | 31138723 | T | TC | frameshift_variant | HIGH | HG00423.hp1 HG00733.hp2 HG00735.hp1 others(54): Show |
a0004a0006 | a0004c0005a0006c0006a0006c0013 | a0004c0005t0001a0004c0005t0003a0004c0005t0005others(4): Show | a0004c0005t0001g0088 a0004c0005t0001g0194 a0004c0005t0001g0204 others(25): Show |
57 | 414 | 0.1377 | 1 | c.118 others(4): Show |
p.His others(4): Show |
PSORS1C1 | ENSG00000204540.11 | transcript | ENST00000259881.10 | protein_coding | 5/6 | 439/939 | 119/459 | 40/152 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
PTEN_chr10_87858625_87976930 | 87960876 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(84): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(27): Show | a0001c0001t0002g0012 a0001c0001t0002g0141 a0001c0001t0002g0207 others(84): Show |
87 | 311 | 0.2797 | 1 | c.802 others(6): Show |
PTEN | ENSG00000171862.15 | transcript | ENST00000371953.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PTGR3_chr18_75190113_75214139 | 75209056 | C | T | start_lost | HIGH | HG01346.hp2 | a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0051 | 1 | 432 | 0.0023 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
PTGR3 | ENSG00000180011.7 | transcript | ENST00000322342.4 | protein_coding | 1/2 | 84/7518 | 3/1134 | 1/377 | chr18 | TogoVar | |||
PYGL_chr14_50900217_50949483 | 50911872 | CT | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(250): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(26): Show | a0001c0001t0002g0010 a0001c0001t0002g0098 a0001c0001t0002g0116 others(187): Show |
253 | 388 | 0.6521 | -1 | c.182 others(7): Show |
PYGL | ENSG00000100504.17 | transcript | ENST00000216392.8 | protein_coding | 15/19 | chr14 | TogoVar | |||||||
RASA4_chr7_102574646_102621756 | 102588790 | AAGTAGCT others(3162): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG00733.hp2 HG01346.hp1 HG01517.hp1 others(12): Show |
a0007a0010a0023others(3): Show | a0007c0005a0007c0046a0010c0009others(5): Show | a0007c0005t0006a0007c0005t0009a0007c0005t0039others(8): Show | a0007c0005t0006g0080 a0007c0005t0006g0103 a0007c0005t0006g0106 others(12): Show |
15 | 130 | 0.1154 | -3169 | c.183 others(18): Show |
RASA4 | ENSG00000105808.19 | transcript | ENST00000262940.12 | protein_coding | 17/21 | chr7 | TogoVar | |||||||
RECQL5_chr17_75621854_75672154 | 75630838 | C | CTG | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(143): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0021others(6): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(111): Show |
146 | 375 | 0.3893 | 2 | c.158 others(15): Show |
RECQL5 | ENSG00000108469.15 | transcript | ENST00000317905.10 | protein_coding | 11/19 | chr17 | TogoVar | |||||||
RHBG_chr1_156364211_156390219 | 156384556 | T | TC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(228): Show |
a0002a0003a0005others(7): Show | a0002c0002a0002c0008a0002c0019others(16): Show | a0002c0002t0001a0002c0008t0001a0002c0019t0001others(16): Show | a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0014 others(130): Show |
231 | 436 | 0.5298 | 1 | c.127 others(5): Show |
p.Asp others(5): Show |
RHBG | ENSG00000132677.13 | transcript | ENST00000537040.6 | protein_coding | 9/10 | 1311/1790 | 1272/1377 | 424/458 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
RXFP2_chr13_31734526_31808389 | 31786554 | T | TAAA | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(101): Show |
a0001a0005a0007 | a0001c0001a0001c0004a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(100): Show |
104 | 230 | 0.4522 | 3 | c.100 others(16): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SBK2_chr19_55523611_55542133 | 55530084 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(32): Show |
a0003 | a0003c0003a0003c0007a0003c0017others(1): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(12): Show | a0003c0003t0001g0037 a0003c0003t0001g0042 a0003c0003t0001g0064 others(29): Show |
35 | 432 | 0.0810 | 1 | c.695 others(4): Show |
p.Pro others(5): Show |
SBK2 | ENSG00000187550.9 | transcript | ENST00000413299.6 | protein_coding | 4/4 | 777/2251 | 695/1047 | 232/348 | chr19 | TogoVar |