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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR4D6_chr11_59451961_59462905 | 59457656 | GC | G | frameshift_variant | HIGH | HG00642.hp2 HG01099.hp1 HG01109.hp2 others(20): Show |
a0005a0010 | a0005c0005a0010c0011 | a0005c0005t0001a0010c0011t0001 | a0005c0005t0001g0000 a0010c0011t0001g0000 |
23 | 420 | 0.0548 | -1 | c.697 others(4): Show |
p.Arg others(5): Show |
OR4D6 | ENSG00000166884.3 | transcript | ENST00000300127.3 | protein_coding | 1/1 | 697/945 | 697/945 | 233/314 | chr11 | TogoVar | |||
OR4E1_chr14_21662886_21678818 | 21670348 | G | GGT | frameshift_variant | HIGH | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(151): Show |
a0001a0010a0012 | a0001c0001a0001c0012a0010c0014others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0012 others(11): Show |
154 | 452 | 0.3407 | 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 | |||
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 | ||||||
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 | |||
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 | ||
OR52E8_chr11_5851749_5862690 | 5856749 | T | A | stop_lost others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(165): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 168 | 434 | 0.3871 | 0 | c.942 others(3): Show |
p.Ter others(11): Show |
OR52E8 | ENSG00000183269.6 | transcript | ENST00000537935.2 | protein_coding | 1/1 | 942/942 | 942/942 | 314/313 | chr11 | TogoVar | |||
OR5AR1_chr11_56658686_56669618 | 56663740 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0005t0001g0000 others(2): Show |
303 | 430 | 0.7047 | 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 | |||
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 | ||
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 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0000 a0001c0013t0001g0000 |
130 | 172 | 0.7558 | 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 | ||
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 | |||
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 | |||||||
PDLIM2_chr8_22575475_22599298 | 22593765 | A | AC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(39): Show |
a0002a0005a0009others(1): Show | a0002c0003a0002c0004a0002c0018others(4): Show | a0002c0003t0001a0002c0003t0002a0002c0004t0001others(6): Show | a0002c0003t0001g0005 a0002c0003t0001g0041 a0002c0003t0001g0056 others(37): Show |
42 | 378 | 0.1111 | 1 | c.916 others(4): Show |
p.Arg others(5): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 9/9 | 1047/1577 | 917/1059 | 306/352 | INFO_REALIGN_3_PRIME | chr8 | 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 | |||
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 | ||||||
PLK4_chr4_127875893_127904224 | 127891075 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(76): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(4): Show | a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0112 others(43): Show |
79 | 357 | 0.2213 | 1 | c.183 others(7): Show |
PLK4 | ENSG00000142731.11 | transcript | ENST00000270861.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PLK5_chr19_1519077_1541046 | 1534043 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(207): Show |
a0001a0006a0011others(1): Show | a0001c0001a0001c0007a0001c0016others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(149): Show |
210 | 428 | 0.4907 | 0 | c.825 others(5): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 13/13 | chr19 | TogoVar | |||||||
POMZP3_chr7_76604986_76632279 | 76611468 | CA | C | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(208): Show |
a0002a0004a0005others(3): Show | a0002c0002a0002c0007a0002c0009others(6): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(25): Show | a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0015 others(182): Show |
211 | 422 | 0.5000 | -1 | c.560 others(4): Show |
p.Leu others(5): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 6/7 | 1283/1528 | 560/564 | 187/187 | chr7 | TogoVar | |||
PPIG_chr2_169579351_169646406 | 169584491 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00438.hp2 others(85): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(11): Show | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 others(80): Show |
88 | 380 | 0.2316 | 0 | c.-70 others(5): Show |
PPIG | ENSG00000138398.17 | transcript | ENST00000260970.8 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
PRAM1_chr19_8485056_8507640 | 8502591 | T | C | start_lost | HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(125): Show |
a0002a0003a0004others(23): Show | a0002c0002a0003c0003a0004c0005others(46): Show | a0002c0002t0002a0003c0003t0002a0004c0005t0002others(47): Show | a0002c0002t0002g0008 a0002c0002t0002g0053 a0002c0002t0002g0054 others(96): Show |
128 | 420 | 0.3048 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
PRAM1 | ENSG00000133246.12 | transcript | ENST00000423345.5 | protein_coding | 1/10 | 50/2195 | 1/2013 | 1/670 | chr19 | TogoVar | |||
PRB3_chr12_11260914_11274707 | 11267400 | A | AG | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(77): Show |
a0003a0005a0006others(5): Show | a0003c0003a0003c0028a0005c0005others(7): Show | a0003c0003t0002a0003c0028t0002a0005c0005t0002others(7): Show | a0003c0003t0002g0004 a0003c0003t0002g0013 a0003c0003t0002g0022 others(12): Show |
80 | 442 | 0.1810 | 1 | c.848 others(4): Show |
p.His others(5): Show |
PRB3 | ENSG00000197870.14 | transcript | ENST00000538488.3 | protein_coding | 3/4 | 886/1227 | 848/1056 | 283/351 | chr12 | TogoVar | |||
PRR22_chr19_5777960_5789746 | 5783689 | T | TG | frameshift_variant | HIGH | HG00642.hp2 HG01496.hp1 HG01496.hp2 others(13): Show |
a0004a0005 | a0004c0005a0005c0008a0005c0014 | a0004c0005t0001a0005c0008t0001a0005c0014t0001 | a0004c0005t0001g0008 a0004c0005t0001g0030 a0005c0008t0001g0016 others(2): Show |
16 | 380 | 0.0421 | 1 | c.557 others(4): Show |
p.Pro others(5): Show |
PRR22 | ENSG00000212123.4 | transcript | ENST00000419421.3 | protein_coding | 3/3 | 643/1373 | 557/1269 | 186/422 | chr19 | 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 | ||
PRSS48_chr4_151272161_151296862 | 151291451 | T | G | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(321): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0002others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 others(98): Show |
324 | 426 | 0.7606 | 0 | c.985 others(3): Show |
p.Ter others(11): Show |
PRSS48 | ENSG00000189099.12 | transcript | ENST00000455694.7 | protein_coding | 5/5 | 997/1408 | 985/987 | 329/328 | chr4 | TogoVar | |||
PSG7_chr19_42919132_42942207 | 42935542 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(372): Show |
a0001a0005a0008others(1): Show | a0001c0001a0001c0002a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(188): Show |
375 | 414 | 0.9058 | 0 | c.292 others(3): Show |
p.Arg others(3): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/6 | 423/2067 | 292/1260 | 98/419 | chr19 | 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 | ||||||
PTPN23_chr3_47376021_47418435 | 47411089 | A | AC | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp1 HG00558.hp2 others(132): Show |
a0002a0004a0005others(6): Show | a0002c0004a0002c0008a0002c0009others(17): Show | a0002c0004t0001a0002c0008t0001a0002c0008t0003others(18): Show | a0002c0004t0001g0001 a0002c0004t0001g0002 a0002c0004t0001g0012 others(118): Show |
135 | 330 | 0.4091 | 1 | c.329 others(5): Show |
p.Arg others(6): Show |
PTPN23 | ENSG00000076201.16 | transcript | ENST00000265562.5 | protein_coding | 20/25 | 3373/5237 | 3297/4911 | 1099/1636 | INFO_REALIGN_3_PRIME | chr3 | 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 | |||||||
RABL2A_chr2_113622266_113648392 | 113635063 | CG | C | frameshift_variant | HIGH | HG00438.hp1 HG00621.hp2 HG00735.hp2 others(38): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0010a0002c0002t0015others(2): Show | a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0025 others(17): Show |
41 | 434 | 0.0945 | -1 | c.232 others(4): Show |
p.Ala others(4): Show |
RABL2A | ENSG00000144134.19 | transcript | ENST00000683472.1 | protein_coding | 5/9 | 420/2141 | 232/690 | 78/229 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
RGS11_chr16_263307_280944 | 271201 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18943.hp1 NA18990.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 3 | 454 | 0.0066 | 0 | c.863 others(5): Show |
RGS11 | ENSG00000076344.16 | transcript | ENST00000397770.8 | protein_coding | 12/16 | chr16 | 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 | ||
RNF17_chr13_24759169_24884921 | 24850445 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00673.hp2 HG01943.hp1 HG01993.hp2 others(32): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0001 a0005c0005t0001g0028 a0005c0005t0001g0095 others(30): Show |
35 | 424 | 0.0825 | 0 | c.320 others(6): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 23/35 | chr13 | TogoVar | |||||||
SERPINB11_chr18_63697960_63728893 | 63712604 | G | T | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(200): Show |
a0001a0004a0013 | a0001c0002a0001c0005a0001c0009others(15): Show | a0001c0002t0001a0001c0005t0002a0001c0005t0006others(18): Show | a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0014 others(79): Show |
203 | 420 | 0.4833 | 0 | c.268 others(3): Show |
p.Glu others(3): Show |
SERPINB11 | ENSG00000206072.13 | transcript | ENST00000544088.6 | protein_coding | 4/8 | 330/1735 | 268/1179 | 90/392 | chr18 | TogoVar | |||
SLC22A24_chr11_63074940_63149221 | 63081015 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0005a0001c0007others(11): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(13): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(255): Show |
267 | 364 | 0.7335 | 0 | c.150 others(4): Show |
p.Tyr others(4): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 9/10 | 1945/2101 | 1503/1659 | 501/552 | chr11 | TogoVar | |||
SLC22A24_chr11_63074940_63149221 | 63083303 | G | A | stop_gained | HIGH | HG00423.hp2 HG01074.hp2 HG02074.hp2 others(18): Show |
a0001a0012 | a0001c0005a0012c0020 | a0001c0005t0001a0012c0020t0001 | a0001c0005t0001g0010 a0001c0005t0001g0011 a0001c0005t0001g0253 others(16): Show |
21 | 364 | 0.0577 | 0 | c.122 others(4): Show |
p.Gln others(4): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 7/10 | 1667/2101 | 1225/1659 | 409/552 | chr11 | TogoVar | |||
SLC35G6_chr17_7476446_7488496 | 7482961 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(313): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0009a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0001 others(13): Show |
316 | 410 | 0.7707 | 0 | c.977 others(3): Show |
p.Trp others(4): Show |
SLC35G6 | ENSG00000259224.3 | transcript | ENST00000412468.4 | protein_coding | 2/2 | 1048/1583 | 977/1017 | 326/338 | chr17 | TogoVar | |||
SLC6A18_chr5_1220381_1251189 | 1240642 | C | G | stop_gained | HIGH | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(178): Show |
a0001a0006a0007others(4): Show | a0001c0002a0001c0005a0001c0009others(16): Show | a0001c0002t0001a0001c0002t0002a0001c0005t0001others(22): Show | a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0010 others(140): Show |
181 | 453 | 0.3996 | 0 | c.957 others(3): Show |
p.Tyr others(4): Show |
SLC6A18 | ENSG00000164363.10 | transcript | ENST00000324642.4 | protein_coding | 7/12 | 1054/2095 | 957/1887 | 319/628 | chr5 | TogoVar | |||
SLC7A13_chr8_86209063_86235381 | 86214405 | TCCGACAT others(1): Show |
T | frameshift_variant others(1): Show |
HIGH | HG00438.hp1 HG00544.hp1 HG01070.hp1 others(92): Show |
a0002a0014 | a0002c0002a0002c0015a0014c0024 | a0002c0002t0002a0002c0015t0002a0014c0024t0002 | a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0012 others(18): Show |
95 | 426 | 0.2230 | -8 | c.141 others(15): Show |
p.Ter others(5): Show |
SLC7A13 | ENSG00000164893.9 | transcript | ENST00000297524.8 | protein_coding | 4/4 | 1524/1867 | 1413/1413 | 471/470 | chr8 | TogoVar | |||
SLFN12L_chr17_35459254_35542678 | 35479822 | AG | A | frameshift_variant | HIGH | HG00597.hp1 HG01106.hp1 HG01891.hp1 others(31): Show |
a0005 | a0005c0006a0005c0019 | a0005c0006t0005a0005c0006t0022a0005c0006t0035others(9): Show | a0005c0006t0005g0002 a0005c0006t0005g0061 a0005c0006t0005g0124 others(30): Show |
34 | 358 | 0.0950 | -1 | c.459 others(4): Show |
p.Leu others(5): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 3/5 | 1170/13219 | 459/1839 | 153/612 | chr17 | TogoVar | |||
SLFNL1_chr1_41010597_41026725 | 41017902 | A | AC | frameshift_variant | HIGH | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(57): Show |
a0002a0005a0007others(3): Show | a0002c0002a0002c0022a0005c0007others(6): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(11): Show | a0002c0002t0001g0007 a0002c0002t0001g0022 a0002c0002t0001g0029 others(24): Show |
60 | 428 | 0.1402 | 1 | c.689 others(4): Show |
p.Ser others(5): Show |
SLFNL1 | ENSG00000171790.16 | transcript | ENST00000302946.13 | protein_coding | 4/6 | 917/1961 | 689/1224 | 230/407 | chr1 | TogoVar | |||
SNX27_chr1_151607050_151704080 | 151692406 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(81): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0011 a0001c0001t0001g0190 a0001c0001t0001g0213 others(81): Show |
84 | 182 | 0.4615 | 1 | c.124 others(7): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPDYE21_chr7_67271941_67294005 | 67278874 | G | C | splice_donor_variant others(1): Show |
HIGH | NA18943.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0068 | 1 | 441 | 0.0023 | 0 | c.160 others(5): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
SPDYE21_chr7_67271941_67294005 | 67281505 | T | TGGGTGGC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(128): Show |
a0002a0009a0013others(2): Show | a0002c0002a0002c0010a0009c0011others(3): Show | a0002c0002t0001a0002c0002t0009a0002c0002t0018others(6): Show | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0005 others(50): Show |
131 | 458 | 0.2860 | 7 | c.514 others(14): Show |
p.Glu others(5): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 4/9 | 1065/3286 | 521/1209 | 174/402 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
SSMEM1_chr7_130202860_130221844 | 130216117 | C | T | stop_gained | HIGH | NA18943.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0001 | 1 | 364 | 0.0027 | 0 | c.382 others(3): Show |
p.Arg others(4): Show |
SSMEM1 | ENSG00000165120.5 | transcript | ENST00000297819.4 | protein_coding | 3/3 | 433/1160 | 382/735 | 128/244 | chr7 | TogoVar | |||
TAF11L10_chr5_17592232_17602828 | 17597711 | TGGGTGCT others(724): Show |
T | start_lost others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(147): Show |
a0002 | a0002c0002a0002c0006a0002c0007 | a0002c0002t0001a0002c0006t0001a0002c0007t0001 | a0002c0002t0001g0000 a0002c0006t0001g0000 a0002c0007t0001g0000 |
150 | 352 | 0.4261 | -731 | c.-61 others(8): Show |
p.Met others(10): Show |
TAF11L10 | ENSG00000284356.1 | transcript | ENST00000638842.1 | protein_coding | 1/1 | 117/597 | 1/597 | 1/198 | chr5 | TogoVar | |||
TAP2_chr6_32820415_32843739 | 32828908 | A | G | stop_lost | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(156): Show |
a0001a0002a0006others(9): Show | a0001c0001a0002c0002a0002c0006others(19): Show | a0001c0001t0024a0002c0002t0001a0002c0002t0003others(28): Show | a0001c0001t0024g0046 a0002c0002t0001g0001 a0002c0002t0001g0037 others(70): Show |
159 | 484 | 0.3285 | 0 | c.205 others(4): Show |
p.Ter others(11): Show |
TAP2 | ENSG00000204267.19 | transcript | ENST00000374897.4 | protein_coding | 12/12 | 2150/5643 | 2059/2061 | 687/686 | chr6 | TogoVar | |||
TAS2R46_chr12_11056365_11067294 | 11061546 | C | T | stop_gained | HIGH | HG00140.hp2 HG00544.hp2 HG00558.hp2 others(63): Show |
a0002a0006a0010 | a0002c0002a0006c0009a0010c0010 | a0002c0002t0001a0006c0009t0001a0010c0010t0001 | a0002c0002t0001g0000 a0006c0009t0001g0000 a0010c0010t0001g0000 |
66 | 294 | 0.2245 | 0 | c.749 others(3): Show |
p.Trp others(4): Show |
TAS2R46 | ENSG00000226761.3 | transcript | ENST00000533467.1 | protein_coding | 1/1 | 749/930 | 749/930 | 250/309 | chr12 | TogoVar | |||
TBCD_chr17_82747065_82950914 | 82797739 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(115): Show |
a0001a0002a0006others(8): Show | a0001c0001a0001c0002a0001c0014others(17): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0026others(31): Show | a0001c0001t0002g0223 a0001c0001t0002g0262 a0001c0001t0002g0301 others(115): Show |
118 | 268 | 0.4403 | 1 | c.772 others(6): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |