| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HMMR_chr5_163455632_163496941 | 163483321 | G | A | stop_gained | HIGH | HG02451.hp2 | a0016 | a0016c0018 | a0016c0018t0001 | a0016c0018t0001g0100 | 1 | 404 | 0.0025 | 0 | c.173 others(4): Show |
p.Trp others(4): Show |
HMMR | ENSG00000072571.20 | transcript | ENST00000393915.9 | protein_coding | 15/18 | 1800/3016 | 1739/2178 | 580/725 | chr5 | TogoVar | |||
| HNRNPCL1_chr1_12842377_12853720 | 12847830 | G | A | stop_gained | HIGH | HG00642.hp2 HG03195.hp2 |
a0005 | a0005c0005 | a0005c0005t0008 | a0005c0005t0008g0012 | 2 | 352 | 0.0057 | 0 | c.460 others(3): Show |
p.Arg others(4): Show |
HNRNPCL1 | ENSG00000179172.10 | transcript | ENST00000317869.7 | protein_coding | 2/2 | 681/1134 | 460/882 | 154/293 | chr1 | TogoVar | |||
| HNRNPCL2_chr1_13110488_13121854 | 13115841 | A | T | stop_gained | HIGH | NA19075.hp2 | a0013 | a0013c0017 | a0013c0017t0001 | a0013c0017t0001g0036 | 1 | 424 | 0.0024 | 0 | c.560 others(3): Show |
p.Leu others(4): Show |
HNRNPCL2 | ENSG00000275774.3 | transcript | ENST00000621994.3 | protein_coding | 2/2 | 803/1156 | 560/882 | 187/293 | chr1 | TogoVar | |||
| HOMEZ_chr14_23267422_23291132 | 23276020 | C | T | stop_gained | HIGH | NA19000.hp2 | a0015 | a0015c0020 | a0015c0020t0020 | a0015c0020t0020g0181 | 1 | 392 | 0.0026 | 0 | c.120 others(4): Show |
p.Trp others(4): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 2/2 | 1388/4986 | 1208/1653 | 403/550 | chr14 | TogoVar | |||
| HOMEZ_chr14_23267422_23291132 | 23276269 | T | TCACTGGG others(3): Show |
frameshift_variant others(1): Show |
HIGH | HG01258.hp2 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0113 | 1 | 392 | 0.0026 | 10 | c.949 others(17): Show |
p.Glu others(5): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 2/2 | 1138/4986 | 958/1653 | 320/550 | chr14 | TogoVar | |||
| HOOK2_chr19_12758003_12780552 | 12772786 | T | A | stop_gained | HIGH | HG03130.hp1 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0098 | 1 | 358 | 0.0028 | 0 | c.382 others(3): Show |
p.Lys others(4): Show |
HOOK2 | ENSG00000095066.12 | transcript | ENST00000397668.8 | protein_coding | 5/23 | 485/2542 | 382/2160 | 128/719 | chr19 | TogoVar | |||
| HOOK2_chr19_12758003_12780552 | 12773022 | A | T | stop_gained | HIGH | HG03130.hp1 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0098 | 1 | 358 | 0.0028 | 0 | c.227 others(3): Show |
p.Leu others(3): Show |
HOOK2 | ENSG00000095066.12 | transcript | ENST00000397668.8 | protein_coding | 4/23 | 330/2542 | 227/2160 | 76/719 | chr19 | TogoVar | |||
| HOXA4_chr7_27123525_27135757 | 27130149 | G | C | stop_gained | HIGH | HG01256.hp1 | a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0010 | 1 | 404 | 0.0025 | 0 | c.585 others(3): Show |
p.Tyr others(4): Show |
HOXA4 | ENSG00000197576.15 | transcript | ENST00000360046.10 | protein_coding | 1/2 | 609/1687 | 585/963 | 195/320 | chr7 | TogoVar | |||
| HOXC8_chr12_54003985_54017769 | 54011346 | A | T | stop_gained | HIGH | NA18962.hp1 | a0005 | a0005c0005 | a0005c0005t0049 | a0005c0005t0049g0009 | 1 | 304 | 0.0033 | 0 | c.694 others(3): Show |
p.Lys others(4): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 2/2 | 994/2417 | 694/729 | 232/242 | chr12 | TogoVar | |||
| HPGD_chr4_174485175_174527488 | 174491973 | G | A | stop_gained | HIGH | HG02486.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0123 | 1 | 412 | 0.0024 | 0 | c.784 others(3): Show |
p.Gln others(4): Show |
HPGD | ENSG00000164120.14 | transcript | ENST00000296522.11 | protein_coding | 7/7 | 821/2619 | 784/801 | 262/266 | chr4 | TogoVar | |||
| HPR_chr16_72058226_72082246 | 72075061 | A | ATTCTTCT others(16168): Show |
frameshift_variant others(1): Show |
HIGH | HG02818.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0092 | 1 | 410 | 0.0024 | 16175 | c.466 others(16182): Show |
p.Ala others(5): Show |
HPR | ENSG00000261701.9 | transcript | ENST00000540303.7 | protein_coding | 5/5 | 497/1242 | 467/1047 | 156/348 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
| HPR_chr16_72058226_72082246 | 72076384 | G | A | stop_gained | HIGH | NA18962.hp1 | a0010 | a0010c0008 | a0010c0008t0001 | a0010c0008t0001g0001 | 1 | 410 | 0.0024 | 0 | c.350 others(3): Show |
p.Trp others(4): Show |
HPR | ENSG00000261701.9 | transcript | ENST00000540303.7 | protein_coding | 5/5 | 380/1242 | 350/1047 | 117/348 | chr16 | TogoVar | |||
| HPSE_chr4_83287461_83339848 | 83322222 | G | A | stop_gained | HIGH | HG01515.hp2 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0313 | 1 | 318 | 0.0031 | 0 | c.370 others(3): Show |
p.Gln others(4): Show |
HPSE | ENSG00000173083.16 | transcript | ENST00000311412.10 | protein_coding | 2/12 | 436/4581 | 370/1632 | 124/543 | chr4 | TogoVar | |||
| HRC_chr19_49146198_49160396 | 49154049 | G | A | stop_gained | HIGH | HG03704.hp1 | a0038 | a0038c0046 | a0038c0046t0001 | a0038c0046t0001g0068 | 1 | 404 | 0.0025 | 0 | c.118 others(4): Show |
p.Arg others(4): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1/6 | 1348/2357 | 1189/2100 | 397/699 | chr19 | TogoVar | |||
| HRG_chr3_186661014_186683234 | 186677185 | G | T | stop_gained | HIGH | HG02717.hp2 HG02896.hp1 HG02897.hp2 |
a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0028 a0011c0012t0001g0029 |
3 | 470 | 0.0064 | 0 | c.880 others(3): Show |
p.Glu others(4): Show |
HRG | ENSG00000113905.5 | transcript | ENST00000232003.5 | protein_coding | 7/7 | 898/1947 | 880/1578 | 294/525 | chr3 | TogoVar | |||
| HRNR_chr1_152207076_152229193 | 152213253 | T | TGAGCCAG others(11988): Show |
frameshift_variant others(1): Show |
HIGH | NA19089.hp2 | a0001 | a0001c0080 | a0001c0080t0001 | a0001c0080t0001g0084 | 1 | 316 | 0.0032 | 11995 | c.837 others(12004): Show |
p.Gln others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8451/9629 | 8375/8553 | 2792/2850 | chr1 | TogoVar | |||
| HRNR_chr1_152207076_152229193 | 152213253 | T | TGAGCCAG others(11987): Show |
stop_gained others(1): Show |
HIGH | HG02129.hp1 | a0001 | a0001c0099 | a0001c0099t0001 | a0001c0099t0001g0103 | 1 | 316 | 0.0032 | 11994 | c.837 others(12003): Show |
p.Ser others(12009): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8451/9629 | 8375/8553 | 2792/2850 | chr1 | TogoVar | |||
| HRNR_chr1_152207076_152229193 | 152213253 | T | TGAGCCAG others(11987): Show |
stop_gained others(1): Show |
HIGH | NA18949.hp1 | a0001 | a0001c0103 | a0001c0103t0001 | a0001c0103t0001g0107 | 1 | 316 | 0.0032 | 11994 | c.837 others(12003): Show |
p.Ser others(12009): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8451/9629 | 8375/8553 | 2792/2850 | chr1 | TogoVar | |||
| HRNR_chr1_152207076_152229193 | 152213253 | T | TGAGCCAG others(11987): Show |
stop_gained others(1): Show |
HIGH | HG00423.hp2 | a0001 | a0001c0098 | a0001c0098t0001 | a0001c0098t0001g0102 | 1 | 316 | 0.0032 | 11994 | c.837 others(12003): Show |
p.Ser others(12009): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8451/9629 | 8375/8553 | 2792/2850 | chr1 | TogoVar | |||
| HRNR_chr1_152207076_152229193 | 152213253 | T | TGAGCCAG others(11987): Show |
stop_gained others(1): Show |
HIGH | HG02155.hp2 | a0001 | a0001c0094 | a0001c0094t0011 | a0001c0094t0011g0098 | 1 | 316 | 0.0032 | 11994 | c.837 others(12003): Show |
p.Ser others(12009): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8451/9629 | 8375/8553 | 2792/2850 | chr1 | TogoVar | |||
| HRNR_chr1_152207076_152229193 | 152213253 | T | TGAGCCAG others(11987): Show |
stop_gained others(1): Show |
HIGH | NA18984.hp2 | a0001 | a0001c0102 | a0001c0102t0001 | a0001c0102t0001g0106 | 1 | 316 | 0.0032 | 11994 | c.837 others(12003): Show |
p.Ser others(12009): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8451/9629 | 8375/8553 | 2792/2850 | chr1 | TogoVar | |||
| HRNR_chr1_152207076_152229193 | 152213253 | T | TGAGCCAG others(11990): Show |
stop_gained others(1): Show |
HIGH | NA18998.hp1 | a0001 | a0001c0101 | a0001c0101t0001 | a0001c0101t0001g0105 | 1 | 316 | 0.0032 | 11997 | c.837 others(12006): Show |
p.Ser others(12012): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8451/9629 | 8375/8553 | 2792/2850 | chr1 | TogoVar | |||
| HRNR_chr1_152207076_152229193 | 152213253 | T | TGAGCCAG others(13397): Show |
stop_gained others(1): Show |
HIGH | HG02698.hp1 | a0001 | a0001c0130 | a0001c0130t0001 | a0001c0130t0001g0138 | 1 | 316 | 0.0032 | 13404 | c.837 others(13413): Show |
p.Ser others(13419): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8451/9629 | 8375/8553 | 2792/2850 | chr1 | TogoVar | |||
| HRNR_chr1_152207076_152229193 | 152213340 | C | CCTGTTGG others(10926): Show |
frameshift_variant others(1): Show |
HIGH | NA19077.hp1 | a0001 | a0001c0061 | a0001c0061t0001 | a0001c0061t0001g0117 | 1 | 214 | 0.0047 | 10933 | c.828 others(10942): Show |
p.Ala others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8364/9629 | 8288/8553 | 2763/2850 | chr1 | TogoVar | |||
| HRNR_chr1_152207076_152229193 | 152213781 | A | ACCCCTAG others(1404): Show |
frameshift_variant others(1): Show |
HIGH | NA18988.hp1 | a0001 | a0001c0163 | a0001c0163t0002 | a0001c0163t0002g0178 | 1 | 416 | 0.0024 | 1411 | c.784 others(1420): Show |
p.Glu others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 7923/9629 | 7847/8553 | 2616/2850 | chr1 | TogoVar | |||
| HRNR_chr1_152207076_152229193 | 152214050 | G | A | stop_gained | HIGH | HG00673.hp2 | a0001 | a0001c0161 | a0001c0161t0002 | a0001c0161t0002g0177 | 1 | 416 | 0.0024 | 0 | c.757 others(4): Show |
p.Arg others(5): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 7655/9629 | 7579/8553 | 2527/2850 | chr1 | TogoVar | |||
| HRNR_chr1_152207076_152229193 | 152214060 | A | AGAAGACT others(1402): Show |
frameshift_variant others(1): Show |
HIGH | NA18982.hp1 | a0012 | a0012c0052 | a0012c0052t0002 | a0012c0052t0002g0164 | 1 | 416 | 0.0024 | 1409 | c.756 others(1418): Show |
p.Gly others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 7644/9629 | 7568/8553 | 2523/2850 | chr1 | TogoVar | |||
| HRNR_chr1_152207076_152229193 | 152218241 | G | A | stop_gained | HIGH | NA18990.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 416 | 0.0024 | 0 | c.338 others(4): Show |
p.Gln others(5): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 3464/9629 | 3388/8553 | 1130/2850 | chr1 | TogoVar | |||
| HRNR_chr1_152207076_152229193 | 152218244 | C | CGTGGCCT others(16216): Show |
frameshift_variant others(1): Show |
HIGH | NA19082.hp2 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0024 | 1 | 206 | 0.0049 | 16223 | c.338 others(16232): Show |
p.Gly others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 3460/9629 | 3384/8553 | 1128/2850 | chr1 | TogoVar | |||
| HRNR_chr1_152207076_152229193 | 152218472 | G | A | stop_gained | HIGH | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 416 | 0.0024 | 0 | c.315 others(4): Show |
p.Arg others(5): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 3233/9629 | 3157/8553 | 1053/2850 | chr1 | TogoVar | |||
| HRNR_chr1_152207076_152229193 | 152219330 | G | A | stop_gained | HIGH | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0045 | a0001c0045t0002 | a0001c0045t0002g0050 | 2 | 416 | 0.0048 | 0 | c.229 others(4): Show |
p.Arg others(4): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 2375/9629 | 2299/8553 | 767/2850 | chr1 | TogoVar | |||
| HSD17B13_chr4_87298794_87327882 | 87317092 | C | T | stop_gained others(1): Show |
HIGH | HG02055.hp2 HG02895.hp1 HG03225.hp1 |
a0004 | a0004c0005 | a0004c0005t0007 | a0004c0005t0007g0177 a0004c0005t0007g0178 a0004c0005t0007g0229 |
3 | 440 | 0.0068 | 0 | c.450 others(3): Show |
p.Trp others(4): Show |
HSD17B13 | ENSG00000170509.12 | transcript | ENST00000328546.5 | protein_coding | 3/7 | 491/2368 | 450/903 | 150/300 | chr4 | TogoVar | |||
| HSD17B14_chr19_48808018_48841491 | 48832708 | G | A | stop_gained | HIGH | HG02280.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0271 | 1 | 392 | 0.0026 | 0 | c.235 others(3): Show |
p.Arg others(3): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 4/9 | 315/1050 | 235/813 | 79/270 | chr19 | TogoVar | |||
| HSDL1_chr16_84117141_84150177 | 84130153 | C | A | stop_gained | HIGH | NA19076.hp1 | a0008 | a0008c0010 | a0008c0010t0031 | a0008c0010t0031g0079 | 1 | 446 | 0.0022 | 0 | c.499 others(3): Show |
p.Glu others(4): Show |
HSDL1 | ENSG00000103160.12 | transcript | ENST00000219439.9 | protein_coding | 4/6 | 665/3648 | 499/993 | 167/330 | chr16 | TogoVar | |||
| HSFX1_chrX_149769068_149781867 | 149775020 | G | GTCCATCT others(10): Show |
frameshift_variant others(1): Show |
HIGH | HG02683.hp2 | a0011 | a0011c0006 | a0011c0006t0001 | a0011c0006t0001g0006 | 1 | 253 | 0.0040 | 17 | c.347 others(24): Show |
p.Trp others(5): Show |
HSFX1 | ENSG00000171116.7 | transcript | ENST00000370416.4 | protein_coding | 1/2 | 962/1963 | 348/1272 | 116/423 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
| HSFX3_chrX_149543210_149554924 | 149549834 | C | A | stop_gained | HIGH | NA19006.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0014 | 1 | 330 | 0.0030 | 0 | c.19G others(2): Show |
p.Glu others(2): Show |
HSFX3 | ENSG00000283697.3 | transcript | ENST00000431993.4 | protein_coding | 1/2 | 91/1256 | 19/1002 | 7/333 | chrX | TogoVar | |||
| HSPA6_chr1_161519540_161531894 | 161525967 | C | T | stop_gained | HIGH | HG02698.hp2 | a0007 | a0007c0013 | a0007c0013t0002 | a0007c0013t0002g0000 | 1 | 454 | 0.0022 | 0 | c.130 others(4): Show |
p.Gln others(4): Show |
HSPA6 | ENSG00000173110.8 | transcript | ENST00000309758.6 | protein_coding | 1/1 | 1428/2355 | 1309/1932 | 437/643 | chr1 | TogoVar | |||
| HSPB9_chr17_42117804_42128352 | 42123145 | C | T | stop_gained | HIGH | HG03471.hp2 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0000 | 1 | 332 | 0.0030 | 0 | c.295 others(3): Show |
p.Gln others(3): Show |
HSPB9 | ENSG00000260325.2 | transcript | ENST00000565659.2 | protein_coding | 1/1 | 342/549 | 295/480 | 99/159 | chr17 | TogoVar | |||
| HTN3_chr4_70023459_70041538 | 70033205 | T | A | stop_gained | HIGH | HG01109.hp2 HG01243.hp2 HG01891.hp1 others(14): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0006 a0002c0003t0002g0013 a0002c0003t0002g0030 others(1): Show |
17 | 410 | 0.0415 | 0 | c.141 others(3): Show |
p.Tyr others(3): Show |
HTN3 | ENSG00000205649.9 | transcript | ENST00000673563.1 | protein_coding | 5/6 | 212/532 | 141/156 | 47/51 | chr4 | TogoVar | |||
| HTR3A_chr11_113970108_113995313 | 113977782 | C | T | stop_gained | HIGH | HG03516.hp1 | a0006 | a0006c0016 | a0006c0016t0001 | a0006c0016t0001g0002 | 1 | 426 | 0.0023 | 0 | c.79C others(2): Show |
p.Arg others(3): Show |
HTR3A | ENSG00000166736.12 | transcript | ENST00000504030.7 | protein_coding | 2/9 | 297/2205 | 79/1437 | 27/478 | chr11 | TogoVar | |||
| HTRA3_chr4_8264754_8312098 | 8270055 | C | A | stop_gained | HIGH | NA19070.hp1 | a0010 | a0010c0003 | a0010c0003t0001 | a0010c0003t0001g0297 | 1 | 386 | 0.0026 | 0 | c.87C others(2): Show |
p.Cys others(3): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 1/9 | 302/2539 | 87/1362 | 29/453 | chr4 | TogoVar | |||
| HUS1B_chr6_650939_662100 | 656344 | G | A | stop_gained | HIGH | HG03834.hp1 | a0013 | a0013c0009 | a0013c0009t0001 | a0013c0009t0001g0000 | 1 | 430 | 0.0023 | 0 | c.601 others(3): Show |
p.Gln others(4): Show |
HUS1B | ENSG00000188996.5 | transcript | ENST00000380907.3 | protein_coding | 1/1 | 757/1162 | 601/837 | 201/278 | chr6 | TogoVar | |||
| HYAL4_chr7_123840169_123882481 | 123868706 | G | GATTGGGA others(3): Show |
frameshift_variant others(1): Show |
HIGH | NA19055.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0125 | 1 | 392 | 0.0026 | 10 | c.434 others(17): Show |
p.Tyr others(5): Show |
HYAL4 | ENSG00000106302.10 | transcript | ENST00000223026.9 | protein_coding | 3/5 | 1082/2410 | 444/1446 | 148/481 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| HYAL4_chr7_123840169_123882481 | 123868762 | C | A | stop_gained | HIGH | NA20805.hp2 | a0005 | a0005c0008 | a0005c0008t0004 | a0005c0008t0004g0149 | 1 | 392 | 0.0026 | 0 | c.489 others(3): Show |
p.Tyr others(4): Show |
HYAL4 | ENSG00000106302.10 | transcript | ENST00000223026.9 | protein_coding | 3/5 | 1127/2410 | 489/1446 | 163/481 | chr7 | TogoVar | |||
| HYAL4_chr7_123840169_123882481 | 123876924 | C | G | stop_gained | HIGH | NA18991.hp2 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0218 | 1 | 392 | 0.0026 | 0 | c.121 others(4): Show |
p.Tyr others(4): Show |
HYAL4 | ENSG00000106302.10 | transcript | ENST00000223026.9 | protein_coding | 5/5 | 1853/2410 | 1215/1446 | 405/481 | chr7 | TogoVar | |||
| HYAL4_chr7_123840169_123882481 | 123877057 | A | T | stop_gained | HIGH | NA18991.hp2 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0218 | 1 | 392 | 0.0026 | 0 | c.134 others(4): Show |
p.Lys others(4): Show |
HYAL4 | ENSG00000106302.10 | transcript | ENST00000223026.9 | protein_coding | 5/5 | 1986/2410 | 1348/1446 | 450/481 | chr7 | TogoVar | |||
| HYKK_chr15_78502577_78541645 | 78527485 | C | T | stop_gained | HIGH | NA20300.hp2 | a0006 | a0006c0009 | a0006c0009t0077 | a0006c0009t0077g0239 | 1 | 410 | 0.0024 | 0 | c.583 others(3): Show |
p.Arg others(4): Show |
HYKK | ENSG00000188266.14 | transcript | ENST00000388988.9 | protein_coding | 4/5 | 683/4197 | 583/1122 | 195/373 | chr15 | TogoVar | |||
| IAH1_chr2_9469551_9494742 | 9481381 | C | T | stop_gained | HIGH | NA18966.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0004 | 1 | 340 | 0.0029 | 0 | c.379 others(3): Show |
p.Arg others(4): Show |
IAH1 | ENSG00000134330.19 | transcript | ENST00000497473.6 | protein_coding | 4/6 | 395/2176 | 379/747 | 127/248 | chr2 | TogoVar | |||
| IDI2_chr10_1013910_1030859 | 1019770 | C | T | stop_gained | HIGH | HG00733.hp2 HG01346.hp1 HG01981.hp1 others(2): Show |
a0002 | a0002c0005a0002c0009 | a0002c0005t0001a0002c0009t0001 | a0002c0005t0001g0020 a0002c0005t0001g0059 a0002c0009t0001g0126 |
5 | 432 | 0.0116 | 0 | c.431 others(3): Show |
p.Trp others(4): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 5/5 | 496/1356 | 431/684 | 144/227 | chr10 | TogoVar | |||
| IDO2_chr8_39929651_40021392 | 40015416 | T | A | stop_gained | HIGH | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(103): Show |
a0003a0004a0005 | a0003c0003a0004c0004a0005c0005 | a0003c0003t0002a0003c0003t0003a0003c0003t0010others(14): Show | a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0021 others(102): Show |
106 | 358 | 0.2961 | 0 | c.103 others(4): Show |
p.Tyr others(4): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 11/11 | 1623/2599 | 1038/1224 | 346/407 | chr8 | TogoVar |