| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LACTBL1_chr1_22948043_22977866 | 22953998 | G | T | stop_gained | HIGH | HG02148.hp2 HG02273.hp1 HG03927.hp2 others(1): Show |
a0012a0013 | a0012c0011a0013c0012 | a0012c0011t0001a0013c0012t0001 | a0012c0011t0001g0288 a0012c0011t0001g0291 a0013c0012t0001g0182 others(1): Show |
4 | 448 | 0.0089 | 0 | c.785 others(3): Show |
p.Ser others(4): Show |
LACTBL1 | ENSG00000215906.9 | transcript | ENST00000426928.7 | protein_coding | 8/8 | 995/1950 | 785/1740 | 262/579 | chr1 | TogoVar | |||
| LACTB_chr15_63116861_63147061 | 63141527 | A | T | stop_gained | HIGH | HG02027.hp1 | a0008 | a0008c0018 | a0008c0018t0001 | a0008c0018t0001g0150 | 1 | 414 | 0.0024 | 0 | c.136 others(4): Show |
p.Lys others(4): Show |
LACTB | ENSG00000103642.12 | transcript | ENST00000261893.9 | protein_coding | 6/6 | 1377/1911 | 1366/1644 | 456/547 | chr15 | TogoVar | |||
| LAIR2_chr19_54497831_54515687 | 54508046 | C | T | stop_gained | HIGH | HG00642.hp1 HG01069.hp2 HG01070.hp2 others(8): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0003 | a0004c0004t0001g0009 a0004c0004t0001g0061 a0004c0004t0003g0009 others(2): Show |
11 | 474 | 0.0232 | 0 | c.226 others(3): Show |
p.Arg others(3): Show |
LAIR2 | ENSG00000167618.10 | transcript | ENST00000301202.7 | protein_coding | 3/5 | 314/665 | 226/459 | 76/152 | chr19 | TogoVar | |||
| LAMA5_chr20_62304065_62372312 | 62318957 | C | A | stop_gained | HIGH | HG01358.hp1 | a0044 | a0044c0120 | a0044c0120t0006 | a0044c0120t0006g0074 | 1 | 184 | 0.0054 | 0 | c.692 others(4): Show |
p.Glu others(5): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 52/80 | 6995/11426 | 6928/11088 | 2310/3695 | chr20 | TogoVar | |||
| LARGE2_chr11_45917656_45934096 | 45924520 | G | A | stop_gained | HIGH | NA18983.hp2 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0043 | 1 | 416 | 0.0024 | 0 | c.507 others(3): Show |
p.Trp others(4): Show |
LARGE2 | ENSG00000165905.18 | transcript | ENST00000401752.6 | protein_coding | 5/14 | 642/2552 | 507/2166 | 169/721 | chr11 | TogoVar | |||
| LBP_chr20_38341482_38382013 | 38366790 | C | T | stop_gained | HIGH | NA19074.hp2 | a0021 | a0021c0037 | a0021c0037t0001 | a0021c0037t0001g0006 | 1 | 392 | 0.0026 | 0 | c.943 others(3): Show |
p.Arg others(4): Show |
LBP | ENSG00000129988.6 | transcript | ENST00000217407.3 | protein_coding | 9/15 | 978/1825 | 943/1446 | 315/481 | chr20 | TogoVar | |||
| LCA5_chr6_79479991_79542430 | 79492562 | A | T | stop_gained | HIGH | NA18967.hp1 | a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0114 | 1 | 398 | 0.0025 | 0 | c.944 others(3): Show |
p.Leu others(4): Show |
LCA5 | ENSG00000135338.14 | transcript | ENST00000369846.9 | protein_coding | 5/8 | 1401/4564 | 944/2094 | 315/697 | chr6 | TogoVar | |||
| LCE1F_chr1_152770140_152782024 | 152776419 | C | A | stop_gained | HIGH | NA18954.hp1 NA18966.hp2 NA18974.hp2 others(1): Show |
a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0003 | 4 | 436 | 0.0092 | 0 | c.48C others(2): Show |
p.Cys others(3): Show |
LCE1F | ENSG00000240386.4 | transcript | ENST00000334371.4 | protein_coding | 2/2 | 121/726 | 48/357 | 16/118 | chr1 | TogoVar | |||
| LCE4A_chr1_152703160_152714434 | 152709084 | C | A | stop_gained | HIGH | HG02055.hp2 HG02451.hp1 HG02886.hp1 others(5): Show |
a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0001 | 8 | 414 | 0.0193 | 0 | c.9C> others(1): Show |
p.Cys others(2): Show |
LCE4A | ENSG00000187170.6 | transcript | ENST00000368777.2 | protein_coding | 2/2 | 265/615 | 9/300 | 3/99 | chr1 | TogoVar | |||
| LCE4A_chr1_152703160_152714434 | 152709228 | C | A | stop_gained | HIGH | HG02080.hp1 | a0006 | a0006c0011 | a0006c0011t0008 | a0006c0011t0008g0004 | 1 | 414 | 0.0024 | 0 | c.153 others(3): Show |
p.Cys others(3): Show |
LCE4A | ENSG00000187170.6 | transcript | ENST00000368777.2 | protein_coding | 2/2 | 409/615 | 153/300 | 51/99 | chr1 | TogoVar | |||
| LCE5A_chr1_152505803_152517177 | 152511769 | C | T | stop_gained | HIGH | NA18966.hp2 NA18967.hp2 NA18981.hp1 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 | 7 | 432 | 0.0162 | 0 | c.235 others(3): Show |
p.Arg others(3): Show |
LCE5A | ENSG00000186207.5 | transcript | ENST00000334269.3 | protein_coding | 2/2 | 452/860 | 235/357 | 79/118 | chr1 | TogoVar | |||
| LCN10_chr9_136733170_136747940 | 136740043 | G | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(83): Show |
a0002a0004a0005 | a0002c0002a0004c0006a0005c0007 | a0002c0002t0002a0002c0002t0003a0002c0002t0006others(6): Show | a0002c0002t0002g0002 a0002c0002t0002g0017 a0002c0002t0002g0051 others(12): Show |
86 | 390 | 0.2205 | 0 | c.481 others(3): Show |
p.Gln others(4): Show |
LCN10 | ENSG00000187922.14 | transcript | ENST00000497771.6 | protein_coding | 5/6 | 518/1995 | 481/603 | 161/200 | chr9 | TogoVar | |||
| LCOR_chr10_96827298_97000956 | 96983942 | C | A | stop_gained | HIGH | HG02683.hp2 | a0013 | a0013c0018 | a0013c0018t0009 | a0013c0018t0009g0191 | 1 | 286 | 0.0035 | 0 | c.348 others(4): Show |
p.Ser others(5): Show |
LCOR | ENSG00000196233.14 | transcript | ENST00000421806.4 | protein_coding | 8/8 | 3987/16001 | 3482/4674 | 1161/1557 | chr10 | TogoVar | |||
| LDAH_chr2_20679031_20828101 | 20801406 | C | A | stop_gained | HIGH | NA19043.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0062 | 1 | 256 | 0.0039 | 0 | c.58G others(2): Show |
p.Gly others(3): Show |
LDAH | ENSG00000118961.15 | transcript | ENST00000237822.8 | protein_coding | 2/7 | 125/3917 | 58/978 | 20/325 | chr2 | TogoVar | |||
| LDB3_chr10_86663511_86705050 | 86699279 | G | T | stop_gained others(1): Show |
HIGH | NA19079.hp1 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0101 | 1 | 410 | 0.0024 | 0 | c.757 others(3): Show |
p.Glu others(4): Show |
LDB3 | ENSG00000122367.21 | transcript | ENST00000263066.11 | protein_coding | 9/9 | 840/1611 | 757/852 | 253/283 | chr10 | TogoVar | |||
| LDLRAD1_chr1_54002298_54023186 | 54010294 | C | A | stop_gained | HIGH | NA19043.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0072 | 1 | 398 | 0.0025 | 0 | c.457 others(3): Show |
p.Glu others(4): Show |
LDLRAD1 | ENSG00000203985.11 | transcript | ENST00000371360.2 | protein_coding | 5/6 | 531/2376 | 457/618 | 153/205 | chr1 | TogoVar | |||
| LENG9_chr19_54456732_54468778 | 54462761 | C | A | stop_gained | HIGH | NA18984.hp2 | a0018 | a0018c0023 | a0018c0023t0002 | a0018c0023t0002g0000 | 1 | 420 | 0.0024 | 0 | c.766 others(3): Show |
p.Glu others(4): Show |
LENG9 | ENSG00000275183.2 | transcript | ENST00000611161.2 | protein_coding | 1/1 | 1018/2047 | 766/1437 | 256/478 | chr19 | TogoVar | |||
| LENG9_chr19_54456732_54468778 | 54462902 | C | A | stop_gained | HIGH | HG04184.hp1 | a0017 | a0017c0024 | a0017c0024t0002 | a0017c0024t0002g0000 | 1 | 420 | 0.0024 | 0 | c.625 others(3): Show |
p.Gly others(4): Show |
LENG9 | ENSG00000275183.2 | transcript | ENST00000611161.2 | protein_coding | 1/1 | 877/2047 | 625/1437 | 209/478 | chr19 | TogoVar | |||
| LIAT1_chr17_405325_419666 | 410436 | C | T | stop_gained | HIGH | HG02630.hp1 HG03453.hp1 |
a0017 | a0017c0018 | a0017c0018t0001 | a0017c0018t0001g0002 a0017c0018t0001g0031 |
2 | 432 | 0.0046 | 0 | c.94C others(2): Show |
p.Gln others(3): Show |
LIAT1 | ENSG00000187624.9 | transcript | ENST00000360127.7 | protein_coding | 1/2 | 112/1841 | 94/1272 | 32/423 | chr17 | TogoVar | |||
| LIAT1_chr17_405325_419666 | 413647 | C | CCCCGAGG others(115): Show |
frameshift_variant others(1): Show |
HIGH | NA19072.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0038 | 1 | 432 | 0.0023 | 122 | c.806 others(129): Show |
p.His others(5): Show |
LIAT1 | ENSG00000187624.9 | transcript | ENST00000360127.7 | protein_coding | 2/2 | 825/1841 | 807/1272 | 269/423 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
| LIFR_chr5_38469668_38561646 | 38496478 | G | A | stop_gained | HIGH | HG01496.hp1 | a0012 | a0012c0017 | a0012c0017t0007 | a0012c0017t0007g0130 | 1 | 372 | 0.0027 | 0 | c.178 others(4): Show |
p.Arg others(4): Show |
LIFR | ENSG00000113594.10 | transcript | ENST00000453190.7 | protein_coding | 13/20 | 2121/10553 | 1789/3294 | 597/1097 | chr5 | TogoVar | |||
| LILRA1_chr19_54588632_54607381 | 54595758 | G | T | stop_gained | HIGH | HG00735.hp2 | a0016 | a0016c0018 | a0016c0018t0023 | a0016c0018t0023g0079 | 1 | 452 | 0.0022 | 0 | c.781 others(3): Show |
p.Gly others(4): Show |
LILRA1 | ENSG00000104974.12 | transcript | ENST00000251372.8 | protein_coding | 6/10 | 979/3232 | 781/1470 | 261/489 | chr19 | TogoVar | |||
| LILRA2_chr19_54568790_54595287 | 54574996 | G | A | stop_gained | HIGH | NA19065.hp1 | a0008 | a0008c0022 | a0008c0022t0001 | a0008c0022t0001g0073 | 1 | 426 | 0.0023 | 0 | c.618 others(3): Show |
p.Trp others(4): Show |
LILRA2 | ENSG00000239998.7 | transcript | ENST00000391738.8 | protein_coding | 4/8 | 707/4482 | 618/1452 | 206/483 | chr19 | TogoVar | |||
| LILRA2_chr19_54568790_54595287 | 54587305 | C | T | stop_gained | HIGH | HG00733.hp1 HG03195.hp2 |
a0008 | a0008c0012 | a0008c0012t0020 | a0008c0012t0020g0031 | 2 | 426 | 0.0047 | 0 | c.141 others(4): Show |
p.Gln others(4): Show |
LILRA2 | ENSG00000239998.7 | transcript | ENST00000391738.8 | protein_coding | 8/8 | 1500/4482 | 1411/1452 | 471/483 | chr19 | TogoVar | |||
| LILRA2_chr19_54568790_54595287 | 54587336 | C | CTGGAGGG others(16): Show |
frameshift_variant others(1): Show |
HIGH | NA18992.hp2 | a0025 | a0025c0028 | a0025c0028t0046 | a0025c0028t0046g0003 | 1 | 426 | 0.0023 | 23 | c.144 others(32): Show |
p.Arg others(5): Show |
LILRA2 | ENSG00000239998.7 | transcript | ENST00000391738.8 | protein_coding | 8/8 | 1532/4482 | 1443/1452 | 481/483 | chr19 | TogoVar | |||
| LILRA4_chr19_54328185_54344162 | 54337979 | G | T | stop_gained | HIGH | HG03516.hp1 | a0021 | a0021c0029 | a0021c0029t0002 | a0021c0029t0002g0063 | 1 | 469 | 0.0021 | 0 | c.612 others(3): Show |
p.Tyr others(4): Show |
LILRA4 | ENSG00000239961.3 | transcript | ENST00000291759.5 | protein_coding | 4/8 | 681/1956 | 612/1500 | 204/499 | chr19 | TogoVar | |||
| LILRA5_chr19_54302070_54318166 | 54312061 | A | AGGGTCCC others(64): Show |
frameshift_variant others(1): Show |
HIGH | NA18954.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0044 | 1 | 408 | 0.0025 | 71 | c.141 others(78): Show |
p.Leu others(4): Show |
LILRA5 | ENSG00000187116.14 | transcript | ENST00000432233.8 | protein_coding | 4/7 | 358/1390 | 211/900 | 71/299 | chr19 | TogoVar | |||
| LILRA6_chr19_54231590_54247790 | 54240484 | G | A | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(188): Show |
a0002a0003a0004others(33): Show | a0002c0002a0002c0027a0002c0028others(39): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0007others(70): Show | a0002c0002t0003g0002 a0002c0002t0003g0043 a0002c0002t0003g0141 others(95): Show |
191 | 448 | 0.4263 | 0 | c.104 others(4): Show |
p.Gln others(4): Show |
LILRA6 | ENSG00000244482.11 | transcript | ENST00000396365.7 | protein_coding | 6/8 | 1087/3848 | 1048/1446 | 350/481 | chr19 | TogoVar | |||
| LILRA6_chr19_54231590_54247790 | 54240485 | C | CCCCCGTG others(19747): Show |
frameshift_variant others(1): Show |
HIGH | HG03471.hp1 | a0048 | a0048c0055 | a0048c0055t0004 | a0048c0055t0004g0137 | 1 | 258 | 0.0039 | 19754 | c.104 others(19763): Show |
p.Trp others(5): Show |
LILRA6 | ENSG00000244482.11 | transcript | ENST00000396365.7 | protein_coding | 6/8 | 1085/3848 | 1046/1446 | 349/481 | chr19 | TogoVar | |||
| LILRA6_chr19_54231590_54247790 | 54242258 | C | T | stop_gained | HIGH | NA18522.hp1 | a0059 | a0059c0053 | a0059c0053t0060 | a0059c0053t0060g0187 | 1 | 448 | 0.0022 | 0 | c.123 others(3): Show |
p.Trp others(3): Show |
LILRA6 | ENSG00000244482.11 | transcript | ENST00000396365.7 | protein_coding | 3/8 | 162/3848 | 123/1446 | 41/481 | chr19 | TogoVar | |||
| LILRA6_chr19_54231590_54247790 | 54242281 | C | A | stop_gained | HIGH | NA18522.hp1 | a0059 | a0059c0053 | a0059c0053t0060 | a0059c0053t0060g0187 | 1 | 448 | 0.0022 | 0 | c.100 others(3): Show |
p.Glu others(3): Show |
LILRA6 | ENSG00000244482.11 | transcript | ENST00000396365.7 | protein_coding | 3/8 | 139/3848 | 100/1446 | 34/481 | chr19 | TogoVar | |||
| LILRB1_chr19_54625484_54643022 | 54632158 | G | A | stop_gained | HIGH | NA18967.hp1 | a0020 | a0020c0027 | a0020c0027t0016 | a0020c0027t0016g0074 | 1 | 434 | 0.0023 | 0 | c.582 others(3): Show |
p.Trp others(4): Show |
LILRB1 | ENSG00000104972.16 | transcript | ENST00000324602.12 | protein_coding | 5/15 | 780/3301 | 582/1959 | 194/652 | chr19 | TogoVar | |||
| LILRB1_chr19_54625484_54643022 | 54633258 | C | T | stop_gained | HIGH | HG03540.hp2 | a0020 | a0020c0032 | a0020c0032t0002 | a0020c0032t0002g0002 | 1 | 434 | 0.0023 | 0 | c.120 others(4): Show |
p.Gln others(4): Show |
LILRB1 | ENSG00000104972.16 | transcript | ENST00000324602.12 | protein_coding | 7/15 | 1399/3301 | 1201/1959 | 401/652 | chr19 | TogoVar | |||
| LILRB1_chr19_54625484_54643022 | 54635176 | G | A | stop_gained | HIGH | HG02083.hp1 | a0026 | a0026c0040 | a0026c0040t0001 | a0026c0040t0001g0011 | 1 | 434 | 0.0023 | 0 | c.155 others(4): Show |
p.Trp others(4): Show |
LILRB1 | ENSG00000104972.16 | transcript | ENST00000324602.12 | protein_coding | 11/15 | 1757/3301 | 1559/1959 | 520/652 | chr19 | TogoVar | |||
| LILRB3_chr19_54211278_54228007 | 54220191 | A | AGCCTCCA others(38952): Show |
frameshift_variant others(1): Show |
HIGH | HG03486.hp2 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0010 | 1 | 450 | 0.0022 | 38959 | c.127 others(38968): Show |
p.Ser others(5): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 7/13 | 1303/2742 | 1272/1896 | 424/631 | chr19 | TogoVar | |||
| LILRB3_chr19_54211278_54228007 | 54220541 | T | TTCCAGGG others(19740): Show |
frameshift_variant others(1): Show |
HIGH | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 321 | 0.0031 | 19747 | c.124 others(19756): Show |
p.His others(5): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 6/13 | 1275/2742 | 1244/1896 | 415/631 | chr19 | TogoVar | |||
| LILRB3_chr19_54211278_54228007 | 54220736 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0019 others(25): Show |
312 | 454 | 0.6872 | 0 | c.105 others(4): Show |
p.Tyr others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 6/13 | 1081/2742 | 1050/1896 | 350/631 | chr19 | TogoVar | |||
| LILRB3_chr19_54211278_54228007 | 54221872 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0019 others(21): Show |
196 | 454 | 0.4317 | 0 | c.614 others(3): Show |
p.Trp others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 4/13 | 645/2742 | 614/1896 | 205/631 | chr19 | TogoVar | |||
| LILRB3_chr19_54211278_54228007 | 54222365 | G | GTGTCATG others(19198): Show |
frameshift_variant others(1): Show |
HIGH | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 193 | 0.0052 | 19205 | c.267 others(19212): Show |
p.Gln others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 3/13 | 298/2742 | 267/1896 | 89/631 | chr19 | TogoVar | |||
| LILRB5_chr19_54244421_54262273 | 54256526 | C | T | stop_gained | HIGH | NA19079.hp2 | a0015 | a0015c0019 | a0015c0019t0001 | a0015c0019t0001g0103 | 1 | 474 | 0.0021 | 0 | c.318 others(3): Show |
p.Trp others(4): Show |
LILRB5 | ENSG00000105609.17 | transcript | ENST00000449561.3 | protein_coding | 3/13 | 398/3221 | 318/1776 | 106/591 | chr19 | TogoVar | |||
| LIPC_chr15_58426991_58574844 | 58538437 | C | T | stop_gained | HIGH | HG01934.hp2 | a0008 | a0008c0046 | a0008c0046t0002 | a0008c0046t0002g0227 | 1 | 356 | 0.0028 | 0 | c.193 others(3): Show |
p.Arg others(3): Show |
LIPC | ENSG00000166035.11 | transcript | ENST00000299022.10 | protein_coding | 2/9 | 235/2559 | 193/1500 | 65/499 | chr15 | TogoVar | |||
| LIPJ_chr10_88581762_88611976 | 88596714 | A | ATAGTGAA others(71): Show |
stop_gained others(1): Show |
HIGH | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 408 | 0.0025 | 78 | c.577 others(88): Show |
p.Ala others(91): Show |
LIPJ | ENSG00000204022.9 | transcript | ENST00000371939.7 | protein_coding | 8/11 | 895/1484 | 581/1101 | 194/366 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
| LIPK_chr10_88701249_88757776 | 88737707 | C | T | stop_gained | HIGH | HG06807.hp1 | a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0154 | 1 | 348 | 0.0029 | 0 | c.742 others(3): Show |
p.Arg others(4): Show |
LIPK | ENSG00000204021.5 | transcript | ENST00000404190.3 | protein_coding | 7/10 | 825/1303 | 742/1200 | 248/399 | chr10 | TogoVar | |||
| LMBR1L_chr12_49092139_49115847 | 49098003 | G | GGGTCAGC others(30): Show |
frameshift_variant others(1): Show |
HIGH | HG02129.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0066 | 1 | 378 | 0.0026 | 37 | c.134 others(46): Show |
p.Thr others(5): Show |
LMBR1L | ENSG00000139636.16 | transcript | ENST00000267102.13 | protein_coding | 16/17 | 1634/2295 | 1342/1470 | 448/489 | chr12 | TogoVar | |||
| LMOD3_chr3_69101065_69127595 | 69118708 | A | C | stop_gained | HIGH | NA18986.hp1 | a0013 | a0013c0019 | a0013c0019t0015 | a0013c0019t0015g0122 | 1 | 426 | 0.0023 | 0 | c.164 others(4): Show |
p.Tyr others(4): Show |
LMOD3 | ENSG00000163380.16 | transcript | ENST00000420581.7 | protein_coding | 2/3 | 1856/4922 | 1647/1683 | 549/560 | chr3 | TogoVar | |||
| LOC112267897_chr13_63741741_63753176 | 63747151 | C | A | stop_gained | HIGH | NA18982.hp2 | a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0000 | 1 | 424 | 0.0024 | 0 | c.351 others(3): Show |
p.Tyr others(4): Show |
LOC112267897 | ENSG00000237378.3 | transcript | ENST00000611641.1 | protein_coding | 1/1 | 411/1436 | 351/390 | 117/129 | chr13 | TogoVar | |||
| LOC122394732_chr9_87951214_87961883 | 87956402 | C | T | stop_gained | HIGH | HG03130.hp2 HG06807.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 2 | 416 | 0.0048 | 0 | c.136 others(3): Show |
p.Gln others(3): Show |
LOC122394732 | ENSG00000283205.1 | transcript | ENST00000636536.1 | protein_coding | 1/1 | 189/670 | 136/234 | 46/77 | chr9 | TogoVar | |||
| LOC128071547_chr12_120529697_120539957 | 120534904 | C | T | stop_gained | HIGH | NA19003.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 406 | 0.0025 | 0 | c.208 others(3): Show |
p.Gln others(3): Show |
LOC128071547 | ENSG00000288623.1 | transcript | ENST00000675818.1 | protein_coding | 1/1 | 208/261 | 208/261 | 70/86 | chr12 | TogoVar | |||
| LOC128854680_chr10_75100669_75114157 | 75105731 | G | A | stop_gained | HIGH | HG03098.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0038 | 1 | 400 | 0.0025 | 0 | c.505 others(3): Show |
p.Arg others(4): Show |
LOC128854680 | ENSG00000293543.1 | transcript | ENST00000713560.1 | protein_coding | 3/3 | 505/567 | 505/567 | 169/188 | chr10 | TogoVar | |||
| LOC400499_chr16_11367015_11532247 | 11401370 | C | A | stop_gained | HIGH | NA19030.hp1 | a0229 | a0229c0192 | a0229c0192t0007 | a0229c0192t0007g0026 | 1 | 308 | 0.0032 | 0 | c.741 others(4): Show |
p.Glu others(5): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 50/67 | 7486/10754 | 7414/9963 | 2472/3320 | chr16 | TogoVar |