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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRAMEF4_chr1_12874212_12891201 | 12881888 | A | AAACAGAG others(316): Show |
frameshift_variant others(1): Show |
HIGH | HG02055.hp1 HG02257.hp1 HG02647.hp2 others(3): Show |
a0012a0015a0019 | a0012c0010a0015c0014a0019c0022 | a0012c0010t0001a0015c0014t0001a0019c0022t0001 | a0012c0010t0001g0022 a0015c0014t0001g0038 a0019c0022t0001g0067 |
6 | 304 | 0.0197 | 323 | c.840 others(330): Show |
p.Ser others(5): Show |
PRAMEF4 | ENSG00000243073.4 | transcript | ENST00000235349.6 | protein_coding | 3/4 | 911/1840 | 840/1437 | 280/478 | chr1 | TogoVar | |||
PRB3_chr12_11260914_11274707 | 11267401 | GGTGGGGG others(118): Show |
G | frameshift_variant | HIGH | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(22): Show |
a0004 | a0004c0004 | a0004c0004t0002a0004c0004t0004 | a0004c0004t0002g0005 a0004c0004t0002g0028 a0004c0004t0004g0030 |
25 | 442 | 0.0566 | -125 | c.723 others(7): Show |
p.Arg others(5): Show |
PRB3 | ENSG00000197870.14 | transcript | ENST00000538488.3 | protein_coding | 3/4 | 885/1227 | 723/1056 | 241/351 | chr12 | TogoVar | |||
PRR20A_chr13_57135918_57148939 | 57142529 | AC | A | frameshift_variant | HIGH | HG00609.hp1 HG00621.hp2 HG00673.hp2 others(30): Show |
a0002a0010 | a0002c0004a0002c0007a0002c0015others(2): Show | a0002c0004t0004a0002c0004t0015a0002c0004t0016others(9): Show | a0002c0004t0004g0003 a0002c0004t0004g0034 a0002c0004t0015g0003 others(10): Show |
33 | 328 | 0.1006 | -1 | c.209 others(4): Show |
p.Pro others(4): Show |
PRR20A | ENSG00000204919.1 | transcript | ENST00000377931.1 | protein_coding | 3/3 | 442/1847 | 209/666 | 70/221 | INFO_REALIGN_3_PRIME | chr13 | 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 | 151279866 | G | GCAGGT | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(86): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 a0003c0003t0001g0012 a0003c0003t0001g0013 others(20): Show |
89 | 426 | 0.2089 | 5 | c.127 others(12): Show |
p.Ser others(4): Show |
PRSS48 | ENSG00000189099.12 | transcript | ENST00000455694.7 | protein_coding | 2/5 | 144/1408 | 132/987 | 44/328 | INFO_REALIGN_3_PRIME | chr4 | 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 | |||
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 | ||
PTTG1IP2_chr7_90464639_90518397 | 90487326 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(69): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0217 others(56): Show |
72 | 382 | 0.1885 | 0 | c.193 others(5): Show |
PTTG1IP2 | ENSG00000251154.2 | transcript | ENST00000509356.2 | protein_coding | 2/6 | chr7 | TogoVar | |||||||
PVR_chr19_44638910_44671162 | 44661248 | CCAGCATT others(39): Show |
C | splice_acceptor_variant others(3): Show |
HIGH | NA19054.hp2 | a0009 | a0009c0009 | a0009c0009t0099 | a0009c0009t0099g0079 | 1 | 410 | 0.0024 | -46 | c.115 others(58): Show |
p.Ser others(19): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 7/8 | 1151/1254 | 384/417 | INFO_REALIGN_3_PRIME | chr19 | 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 | |||||||
RAX2_chr19_3764089_3777228 | 3770840 | C | CG | frameshift_variant | HIGH | HG01433.hp2 HG02055.hp1 HG02148.hp2 others(15): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(3): Show | a0002c0002t0001g0006 a0002c0002t0002g0027 a0002c0002t0002g0049 others(5): Show |
18 | 433 | 0.0416 | 1 | c.335 others(4): Show |
p.Ala others(5): Show |
RAX2 | ENSG00000173976.16 | transcript | ENST00000555633.3 | protein_coding | 3/3 | 669/2421 | 335/555 | 112/184 | chr19 | TogoVar | |||
RBMXL2_chr11_7083998_7096148 | 7089456 | C | CG | frameshift_variant | HIGH | HG00621.hp1 HG00642.hp2 HG01099.hp2 others(39): Show |
a0003a0005a0008 | a0003c0004a0003c0005a0003c0011others(4): Show | a0003c0004t0001a0003c0004t0002a0003c0004t0003others(9): Show | a0003c0004t0001g0000 a0003c0004t0002g0000 a0003c0004t0003g0000 others(9): Show |
42 | 458 | 0.0917 | 1 | c.341 others(4): Show |
p.Gly others(5): Show |
RBMXL2 | ENSG00000170748.7 | transcript | ENST00000306904.7 | protein_coding | 1/1 | 465/2151 | 342/1179 | 114/392 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
RFX8_chr2_101392359_101480112 | 101422474 | T | G | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(42): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0109 others(36): Show |
45 | 350 | 0.1286 | 0 | c.73- others(4): Show |
RFX8 | ENSG00000196460.14 | transcript | ENST00000428343.6 | protein_coding | 2/11 | chr2 | 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 | |||||||
RNF32_chr7_156635774_156682130 | 156675865 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00438.hp2 HG00609.hp2 HG01168.hp2 others(52): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0005others(1): Show | a0002c0002t0001a0003c0003t0002a0003c0003t0004others(3): Show | a0002c0002t0001g0076 a0003c0003t0002g0052 a0003c0003t0002g0189 others(41): Show |
55 | 446 | 0.1233 | 0 | c.852 others(5): Show |
RNF32 | ENSG00000105982.17 | transcript | ENST00000317955.10 | protein_coding | 8/8 | chr7 | TogoVar | |||||||
RXFP2_chr13_31734526_31808389 | 31786554 | T | TAA | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00639.hp2 others(98): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0012a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(95): Show |
101 | 227 | 0.4449 | 2 | c.100 others(15): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SCART1_chr10_133448945_133474760 | 133457333 | TC | T | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp2 HG00609.hp2 others(90): Show |
a0003a0004 | a0003c0003a0003c0007a0003c0008others(16): Show | a0003c0003t0003a0003c0007t0003a0003c0008t0003others(20): Show | a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 others(61): Show |
93 | 432 | 0.2153 | -1 | c.444 others(4): Show |
p.Glu others(5): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 3/12 | 497/4929 | 444/3084 | 148/1027 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
SCART1_chr10_133448945_133474760 | 133464740 | CTGGGGTG | C | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(99): Show |
a0003a0004a0007others(7): Show | a0003c0003a0003c0007a0003c0008others(24): Show | a0003c0003t0003a0003c0007t0003a0003c0008t0003others(28): Show | a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 others(68): Show |
102 | 431 | 0.2367 | -7 | c.211 others(16): Show |
p.Val others(5): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 7/12 | 2170/4929 | 2117/3084 | 706/1027 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
SDR16C5_chr8_56295005_56325175 | 56305723 | C | T | splice_acceptor_variant others(1): Show |
HIGH | NA19012.hp1 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 a0001c0001t0002g0150 |
2 | 396 | 0.0051 | 0 | c.711 others(5): Show |
SDR16C5 | ENSG00000170786.13 | transcript | ENST00000303749.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
SERINC4_chr15_43789162_43805220 | 43797216 | A | AAG | frameshift_variant | HIGH | HG00423.hp2 HG02083.hp2 NA18941.hp2 others(11): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0005a0002c0003t0001 | a0002c0002t0001g0009 a0002c0002t0005g0022 a0002c0003t0001g0020 others(2): Show |
14 | 380 | 0.0368 | 2 | c.772 others(9): Show |
p.Met others(5): Show |
SERINC4 | ENSG00000184716.14 | transcript | ENST00000319327.7 | protein_coding | 6/12 | 1006/2629 | 772/1557 | 258/518 | chr15 | 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 | |||
SIGLEC15_chr18_45820675_45849094 | 45825767 | G | A | stop_gained | HIGH | NA19054.hp1 | a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0004 | 1 | 412 | 0.0024 | 0 | c.39G others(2): Show |
p.Trp others(3): Show |
SIGLEC15 | ENSG00000197046.12 | transcript | ENST00000389474.8 | protein_coding | 1/6 | 93/2948 | 39/987 | 13/328 | chr18 | TogoVar | |||
SLC22A10_chr11_63284903_63316783 | 63290453 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(159): Show |
a0002a0011 | a0002c0002a0002c0009a0002c0012others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(7): Show | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0005 others(78): Show |
162 | 400 | 0.4050 | 0 | c.288 others(3): Show |
p.Trp others(3): Show |
SLC22A10 | ENSG00000184999.13 | transcript | ENST00000332793.11 | protein_coding | 1/10 | 551/2638 | 288/1626 | 96/541 | chr11 | TogoVar | |||
SLC22A31_chr16_89190761_89205537 | 89196258 | GCCTGGCC others(74): Show |
G | frameshift_variant others(3): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(169): Show |
a0002a0005a0006others(3): Show | a0002c0002a0002c0004a0002c0007others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(10): Show | a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0014 others(30): Show |
172 | 426 | 0.4038 | -81 | c.103 others(93): Show |
p.Arg others(5): Show |
SLC22A31 | ENSG00000259803.8 | transcript | ENST00000682282.1 | protein_coding | 9/9 | 1117/1615 | 1035/1341 | 345/446 | chr16 | 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 | |||
TAT_chr16_71560660_71582092 | 71573538 | C | T | splice_donor_variant others(1): Show |
HIGH | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 370 | 0.0027 | 0 | c.408 others(5): Show |
TAT | ENSG00000198650.11 | transcript | ENST00000355962.5 | protein_coding | 4/11 | chr16 | TogoVar | |||||||
TBC1D19_chr4_26579084_26761223 | 26735441 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(269): Show |
273 | 307 | 0.8893 | 1 | c.108 others(7): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr4 | 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 | ||||||
TBKBP1_chr17_47689161_47717052 | 47709026 | G | GC | frameshift_variant | HIGH | HG00438.hp1 HG00621.hp1 HG00621.hp2 others(37): Show |
a0002a0006a0012others(4): Show | a0002c0004a0002c0005a0002c0011others(10): Show | a0002c0004t0001a0002c0004t0003a0002c0005t0001others(12): Show | a0002c0004t0001g0002 a0002c0004t0001g0016 a0002c0004t0001g0052 others(36): Show |
40 | 384 | 0.1042 | 1 | c.129 others(5): Show |
p.Pro others(5): Show |
TBKBP1 | ENSG00000198933.11 | transcript | ENST00000578982.6 | protein_coding | 9/10 | 1367/3342 | 1299/1848 | 433/615 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
TEDC1_chr14_105486246_105504248 | 105497878 | C | CG | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp1 HG00597.hp1 others(27): Show |
a0002a0006a0011others(2): Show | a0002c0003a0002c0011a0002c0022others(4): Show | a0002c0003t0001a0002c0003t0003a0002c0003t0005others(8): Show | a0002c0003t0001g0001 a0002c0003t0001g0003 a0002c0003t0001g0004 others(22): Show |
30 | 433 | 0.0693 | 1 | c.106 others(5): Show |
p.Gly others(5): Show |
TEDC1 | ENSG00000185347.19 | transcript | ENST00000392523.9 | protein_coding | 8/9 | 1195/1920 | 1065/1488 | 355/495 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
TEX26_chr13_30927656_30980500 | 30956872 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(99): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(77): Show |
102 | 412 | 0.2476 | 0 | c.313 others(5): Show |
TEX26 | ENSG00000175664.10 | transcript | ENST00000380473.8 | protein_coding | 3/6 | chr13 | TogoVar | |||||||
TMEM216_chr11_61387587_61403846 | 61398269 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(172): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0005t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(23): Show |
175 | 267 | 0.6554 | 0 | c.432 others(5): Show |
TMEM216 | ENSG00000187049.11 | transcript | ENST00000515837.7 | protein_coding | 4/4 | chr11 | TogoVar | |||||||
TMPRSS11A_chr4_67904395_67968493 | 67963391 | C | T | start_lost | HIGH | HG00280.hp2 HG00323.hp1 HG00544.hp1 others(97): Show |
a0002a0003 | a0002c0002a0002c0010a0002c0015others(7): Show | a0002c0002t0002a0002c0002t0011a0002c0002t0019others(13): Show | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0010 others(78): Show |
100 | 392 | 0.2551 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
TMPRSS11A | ENSG00000187054.16 | transcript | ENST00000508048.6 | protein_coding | 1/10 | 103/3304 | 3/1257 | 1/418 | chr4 | TogoVar | |||
TNIP1_chr5_151024945_151086034 | 151033665 | A | AG | frameshift_variant | HIGH | HG00597.hp1 HG00639.hp1 HG00673.hp2 others(22): Show |
a0003a0010a0016others(2): Show | a0003c0003a0003c0009a0010c0024others(4): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(6): Show | a0003c0003t0001g0022 a0003c0003t0001g0075 a0003c0003t0001g0104 others(21): Show |
25 | 397 | 0.0630 | 1 | c.172 others(5): Show |
p.Pro others(5): Show |
TNIP1 | ENSG00000145901.16 | transcript | ENST00000521591.6 | protein_coding | 16/18 | 1912/2870 | 1721/1911 | 574/636 | chr5 | TogoVar | |||
TNK1_chr17_7376089_7394742 | 7387376 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00438.hp2 others(53): Show |
a0001a0003a0008others(3): Show | a0001c0001a0001c0002a0001c0031others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0031t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0047 others(12): Show |
56 | 450 | 0.1244 | 0 | c.139 others(6): Show |
TNK1 | ENSG00000174292.13 | transcript | ENST00000688331.1 | protein_coding | 9/12 | chr17 | TogoVar | |||||||
TNK2_chr3_195858364_195913551 | 195868357 | C | CG | frameshift_variant | HIGH | HG00597.hp1 HG00621.hp1 HG00639.hp1 others(50): Show |
a0002a0010a0011others(3): Show | a0002c0004a0002c0008a0002c0010others(20): Show | a0002c0004t0001a0002c0004t0002a0002c0008t0001others(24): Show | a0002c0004t0001g0133 a0002c0004t0001g0251 a0002c0004t0001g0261 others(50): Show |
53 | 370 | 0.1432 | 1 | c.194 others(5): Show |
p.Pro others(5): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 13/16 | 2025/4070 | 1940/3168 | 647/1055 | chr3 | TogoVar | |||
TRIM22_chr11_5684790_5715863 | 5697345 | C | T | splice_donor_variant others(1): Show |
HIGH | NA19054.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0308 | 1 | 478 | 0.0021 | 0 | c.519 others(5): Show |
TRIM22 | ENSG00000132274.17 | transcript | ENST00000379965.8 | protein_coding | 3/7 | chr11 | TogoVar | |||||||
TRPM1_chr15_30996065_31106725 | 31002511 | C | A | stop_gained | HIGH | HG00733.hp2 HG01099.hp1 HG01257.hp2 others(20): Show |
a0005a0007a0008 | a0005c0007a0005c0025a0005c0045others(7): Show | a0005c0007t0001a0005c0025t0001a0005c0045t0001others(7): Show | a0005c0007t0001g0023 a0005c0007t0001g0089 a0005c0007t0001g0091 others(18): Show |
23 | 254 | 0.0906 | 0 | c.418 others(4): Show |
p.Glu others(5): Show |
TRPM1 | ENSG00000134160.17 | transcript | ENST00000256552.11 | protein_coding | 28/28 | 4341/5787 | 4189/4878 | 1397/1625 | chr15 | TogoVar | |||
TTN_chr2_178520989_178812423 | 178655278 | ATATCTCA others(4253): Show |
A | exon_loss_variant | HIGH | HG01099.hp1 HG01978.hp2 HG04204.hp2 others(3): Show |
a0045a0060a0138others(3): Show | a0045c0063a0060c0130a0138c0132others(3): Show | a0045c0063t0002a0060c0130t0002a0138c0132t0002others(3): Show | a0045c0063t0002g0155 a0060c0130t0002g0103 a0138c0132t0002g0233 others(3): Show |
6 | 170 | 0.0353 | -4260 | c.372 others(19): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 189/363 | chr2 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72728896 | C | T | stop_gained | HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp2 others(117): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0007a0001c0018others(11): Show | a0001c0001t0001a0001c0007t0001a0001c0018t0001others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(117): Show |
120 | 284 | 0.4225 | 0 | c.111 others(4): Show |
p.Trp others(4): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 9/14 | 1243/3117 | 1118/2007 | 373/668 | chr7 | TogoVar | |||
TYW1B_chr7_72569513_72833200 | 72744551 | C | CA | frameshift_variant | HIGH | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(208): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0006others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(208): Show |
211 | 284 | 0.7430 | 1 | c.101 others(5): Show |
p.Glu others(5): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 8/14 | 1139/3117 | 1014/2007 | 338/668 | chr7 | TogoVar | |||
UNC93A_chr6_167286315_167321014 | 167296214 | G | A | stop_gained | HIGH | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(51): Show |
a0004 | a0004c0004a0004c0008a0004c0011others(4): Show | a0004c0004t0003a0004c0004t0006a0004c0008t0001others(6): Show | a0004c0004t0003g0006 a0004c0004t0003g0011 a0004c0004t0003g0029 others(42): Show |
54 | 446 | 0.1211 | 0 | c.452 others(3): Show |
p.Trp others(4): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 3/8 | 627/2111 | 452/1374 | 151/457 | chr6 | TogoVar | |||
UNC93A_chr6_167286315_167321014 | 167298071 | G | C | splice_donor_variant others(1): Show |
HIGH | HG00423.hp1 HG00558.hp1 HG00597.hp1 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0005others(4): Show | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0105 others(21): Show |
29 | 446 | 0.0650 | 0 | c.625 others(5): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
UNCX_chr7_1227872_1242326 | 1236226 | A | AC | frameshift_variant | HIGH | HG01243.hp2 HG01361.hp2 HG02896.hp1 others(9): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0002t0002a0002c0007t0001 | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0004 others(6): Show |
12 | 404 | 0.0297 | 1 | c.849 others(4): Show |
p.Ala others(5): Show |
UNCX | ENSG00000164853.9 | transcript | ENST00000316333.9 | protein_coding | 3/3 | 996/2091 | 850/1596 | 284/531 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
USP17L20_chr4_9253124_9264716 | 9258319 | G | T | stop_gained | HIGH | HG00140.hp1 HG01358.hp1 HG02258.hp1 others(16): Show |
a0001a0003a0019 | a0001c0001a0003c0003a0019c0025 | a0001c0001t0001a0003c0003t0001a0019c0025t0001 | a0001c0001t0001g0000 a0003c0003t0001g0000 a0019c0025t0001g0000 |
19 | 234 | 0.0812 | 0 | c.196 others(3): Show |
p.Glu others(3): Show |
USP17L20 | ENSG00000250745.3 | transcript | ENST00000506151.1 | protein_coding | 1/1 | 196/1593 | 196/1593 | 66/530 | chr4 | TogoVar | |||
USP29_chr19_57114985_57136926 | 57131414 | C | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(403): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(223): Show |
406 | 414 | 0.9807 | 0 | c.273 others(4): Show |
p.Tyr others(4): Show |
USP29 | ENSG00000131864.11 | transcript | ENST00000254181.9 | protein_coding | 4/4 | 3251/3763 | 2739/2769 | 913/922 | chr19 | TogoVar | |||
VCAN_chr5_83466744_83587302 | 83542185 | C | CCCTTCTG others(6): Show |
frameshift_variant | HIGH | NA19054.hp1 | a0037 | a0037c0075 | a0037c0075t0002 | a0037c0075t0002g0006 | 1 | 348 | 0.0029 | 13 | c.918 others(22): Show |
p.Ser others(6): Show |
VCAN | ENSG00000038427.16 | transcript | ENST00000265077.8 | protein_coding | 8/15 | 9482/12345 | 9196/10191 | 3066/3396 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |