regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KRTAP2-3_chr17_41054240_41065114 | 41060002 | C | A | stop_gained | HIGH | HG02976.hp2 | a0008 | a0008c0012 | a0008c0012t0005 | a0008c0012t0005g0000 | 1 | 441 | 0.0023 | 0 | c.49G others(2): Show |
p.Gly others(3): Show |
KRTAP2-3 | ENSG00000212724.3 | transcript | ENST00000391418.3 | protein_coding | 1/1 | 113/875 | 49/387 | 17/128 | chr17 | TogoVar | ||
KRTAP2-4_chr17_41060116_41070879 | 41065513 | G | GGGCCGGC others(98): Show |
stop_gained others(1): Show |
HIGH | HG02683.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0000 | 1 | 433 | 0.0023 | 105 | c.332 others(112): Show |
p.Pro others(118): Show |
KRTAP2-4 | ENSG00000213417.3 | transcript | ENST00000394015.3 | protein_coding | 1/1 | 366/764 | 332/387 | 111/128 | chr17 | TogoVar | ||
KRTAP25-1_chr21_30284145_30294514 | 30289211 | G | A | stop_gained | HIGH | HG02280.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0000 | 1 | 452 | 0.0022 | 0 | c.280 others(3): Show |
p.Gln others(3): Show |
KRTAP25-1 | ENSG00000232263.1 | transcript | ENST00000416044.1 | protein_coding | 1/1 | 304/370 | 280/309 | 94/102 | chr21 | TogoVar | ||
KRTAP27-1_chr21_30332013_30342694 | 30337413 | G | A | stop_gained | HIGH | HG01934.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0000 | 1 | 420 | 0.0024 | 0 | c.256 others(3): Show |
p.Gln others(3): Show |
KRTAP27-1 | ENSG00000206107.2 | transcript | ENST00000382835.2 | protein_coding | 1/1 | 282/682 | 256/624 | 86/207 | chr21 | TogoVar | ||
KRTAP4-16_chr17_41096502_41107209 | 41101562 | G | GGGGAAAG others(69): Show |
frameshift_variant others(1): Show |
HIGH | HG00323.hp1 HG00597.hp1 HG00621.hp1 others(43): Show |
a0002 | a0002c0003 | a0002c0003t0000 | a0002c0003t0000g0000 | 46 | 423 | 0.1088 | 76 | c.647 others(83): Show |
p.Ser others(5): Show |
KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 1/1 | 647/708 | 647/708 | 216/235 | chr17 | TogoVar | ||
KRTAP4-16_chr17_41096502_41107209 | 41101595 | G | GGAAGGGG others(73): Show |
frameshift_variant others(1): Show |
HIGH | HG00423.hp1 HG01928.hp1 HG02451.hp1 others(4): Show |
a0002a0010 | a0002c0003a0002c0011a0010c0015 | a0002c0003t0000a0002c0011t0000a0010c0015t0000 | a0002c0003t0000g0000a0002c0011t0000g0000a0010c0015t0000g0000 | 7 | 423 | 0.0166 | 80 | c.614 others(87): Show |
p.Pro others(5): Show |
KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 1/1 | 614/708 | 614/708 | 205/235 | chr17 | TogoVar | ||
KRTAP4-2_chr17_41172446_41183221 | 41177966 | G | A | stop_gained | HIGH | NA18522.hp1 NA19240.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0000 | 2 | 406 | 0.0049 | 0 | c.199 others(3): Show |
p.Gln others(3): Show |
KRTAP4-2 | ENSG00000244537.3 | transcript | ENST00000377726.3 | protein_coding | 1/1 | 256/776 | 199/411 | 67/136 | chr17 | TogoVar | ||
KRTAP4-5_chr17_41143924_41154825 | 41149311 | G | A | stop_gained | HIGH | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(4): Show |
a0008 | a0008c0008a0008c0012 | a0008c0008t0001a0008c0012t0006 | a0008c0008t0001g0000a0008c0012t0006g0000 | 7 | 402 | 0.0174 | 0 | c.457 others(3): Show |
p.Arg others(4): Show |
KRTAP4-5 | ENSG00000198271.5 | transcript | ENST00000343246.6 | protein_coding | 1/1 | 515/902 | 457/546 | 153/181 | chr17 | TogoVar | ||
KRTAP4-7_chr17_41079150_41090144 | 41084311 | C | A | stop_gained | HIGH | HG03710.hp1 | a0012 | a0012c0015 | a0012c0015t0001 | a0012c0015t0001g0000 | 1 | 442 | 0.0023 | 0 | c.105 others(3): Show |
p.Cys others(3): Show |
KRTAP4-7 | ENSG00000240871.7 | transcript | ENST00000391417.6 | protein_coding | 1/1 | 162/995 | 105/468 | 35/155 | chr17 | TogoVar | ||
KRTAP4-7_chr17_41079150_41090144 | 41084398 | C | A | stop_gained | HIGH | HG02027.hp1 NA18956.hp1 |
a0011 | a0011c0010 | a0011c0010t0002 | a0011c0010t0002g0000 | 2 | 442 | 0.0045 | 0 | c.192 others(3): Show |
p.Cys others(3): Show |
KRTAP4-7 | ENSG00000240871.7 | transcript | ENST00000391417.6 | protein_coding | 1/1 | 249/995 | 192/468 | 64/155 | chr17 | TogoVar | ||
KRTAP4-7_chr17_41079150_41090144 | 41084543 | A | AGCTGCTG others(159): Show |
frameshift_variant others(1): Show |
HIGH | NA19075.hp1 | a0015 | a0015c0017 | a0015c0017t0001 | a0015c0017t0001g0000 | 1 | 442 | 0.0023 | 166 | c.345 others(173): Show |
p.Arg others(5): Show |
KRTAP4-7 | ENSG00000240871.7 | transcript | ENST00000391417.6 | protein_coding | 1/1 | 403/995 | 346/468 | 116/155 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
KRTAP4-8_chr17_41091981_41103142 | 41097995 | A | T | stop_gained | HIGH | HG00140.hp1 HG01433.hp1 HG02738.hp1 others(1): Show |
a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0000 | 4 | 416 | 0.0096 | 0 | c.90T others(2): Show |
p.Cys others(3): Show |
KRTAP4-8 | ENSG00000204880.9 | transcript | ENST00000333822.5 | protein_coding | 1/1 | 148/1162 | 90/558 | 30/185 | chr17 | TogoVar | ||
KRTAP5-4_chr11_1615958_1627138 | 1621648 | G | C | stop_gained | HIGH | HG02647.hp2 HG03688.hp2 |
a0009 | a0009c0009 | a0009c0009t0001a0009c0009t0009 | a0009c0009t0001g0000a0009c0009t0009g0000 | 2 | 427 | 0.0047 | 0 | c.446 others(3): Show |
p.Ser others(4): Show |
KRTAP5-4 | ENSG00000241598.6 | transcript | ENST00000399682.1 | protein_coding | 1/1 | 491/1181 | 446/687 | 149/228 | chr11 | TogoVar | ||
KRTAP9-1_chr17_41184887_41195639 | 41190576 | C | A | stop_gained | HIGH | HG02976.hp1 | a0009 | a0009c0010 | a0009c0010t0000 | a0009c0010t0000g0000 | 1 | 460 | 0.0022 | 0 | c.690 others(3): Show |
p.Cys others(4): Show |
KRTAP9-1 | ENSG00000240542.6 | transcript | ENST00000398470.1 | protein_coding | 1/1 | 690/753 | 690/753 | 230/250 | chr17 | TogoVar | ||
KRTAP9-4_chr17_41244687_41255653 | 41249791 | G | A | stop_gained | HIGH | HG02004.hp1 | a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0000 | 1 | 441 | 0.0023 | 0 | c.71G others(2): Show |
p.Trp others(3): Show |
KRTAP9-4 | ENSG00000241595.2 | transcript | ENST00000334109.3 | protein_coding | 1/1 | 105/967 | 71/465 | 24/154 | chr17 | TogoVar | ||
LACTBL1_chr1_22948043_22977866 | 22953998 | G | T | stop_gained | HIGH | HG02148.hp2 HG02273.hp1 HG03927.hp2 others(1): Show |
a0009a0013 | a0009c0012a0013c0011 | a0009c0012t0001a0013c0011t0001 | a0009c0012t0001g0182a0009c0012t0001g0222a0013c0011t0001g0288others(1): Show | 4 | 450 | 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 | a0010 | a0010c0018 | a0010c0018t0001 | a0010c0018t0001g0151 | 1 | 416 | 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 | a0004c0004t0001g0009a0004c0004t0001g0061a0004c0004t0003g0009others(2): Show | 11 | 475 | 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 | a0049 | a0049c0121 | a0049c0121t0006 | a0049c0121t0006g0076 | 1 | 186 | 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 | a0006 | a0006c0014 | a0006c0014t0001 | a0006c0014t0001g0043 | 1 | 418 | 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 | a0013 | a0013c0037 | a0013c0037t0001 | a0013c0037t0001g0015 | 1 | 394 | 0.0025 | 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 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0126 | 1 | 400 | 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 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0003 | 4 | 438 | 0.0091 | 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 |
a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0001 | 8 | 416 | 0.0192 | 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 | a0009 | a0009c0011 | a0009c0011t0008 | a0009c0011t0008g0004 | 1 | 416 | 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 | 434 | 0.0161 | 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 |
a0002a0005a0006 | a0002c0002a0005c0006a0006c0007 | a0002c0002t0002a0002c0002t0003a0002c0002t0006others(6): Show | a0002c0002t0002g0002a0002c0002t0002g0017a0002c0002t0002g0051others(12): Show | 86 | 392 | 0.2194 | 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 | a0013c0018t0006 | a0013c0018t0006g0190 | 1 | 288 | 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 | 258 | 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 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0098 | 1 | 412 | 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 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0078 | 1 | 400 | 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 | a0019 | a0019c0023 | a0019c0023t0002 | a0019c0023t0002g0000 | 1 | 421 | 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 | a0014 | a0014c0024 | a0014c0024t0002 | a0014c0024t0002g0000 | 1 | 421 | 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 |
a0018 | a0018c0020 | a0018c0020t0001 | a0018c0020t0001g0002a0018c0020t0001g0031 | 2 | 434 | 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 | a0032 | a0032c0041 | a0032c0041t0001 | a0032c0041t0001g0038 | 1 | 434 | 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 | a0012c0017t0007g0129 | 1 | 374 | 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 | a0017 | a0017c0018 | a0017c0018t0023 | a0017c0018t0023g0080 | 1 | 453 | 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 | a0016 | a0016c0022 | a0016c0022t0001 | a0016c0022t0001g0090 | 1 | 427 | 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 |
a0011 | a0011c0012 | a0011c0012t0020 | a0011c0012t0020g0033 | 2 | 427 | 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 | a0019 | a0019c0028 | a0019c0028t0046 | a0019c0028t0046g0053 | 1 | 427 | 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 | a0014 | a0014c0029 | a0014c0029t0002 | a0014c0029t0002g0063 | 1 | 471 | 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 | a0003c0002t0002g0059 | 1 | 409 | 0.0024 | 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(189): Show |
a0002a0003a0004others(34): Show | a0002c0002a0002c0027a0002c0028others(40): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0007others(71): Show | a0002c0002t0003g0002a0002c0002t0003g0043a0002c0002t0003g0140others(97): Show | 192 | 450 | 0.4267 | 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 | a0056 | a0056c0055 | a0056c0055t0004 | a0056c0055t0004g0136 | 1 | 450 | 0.0022 | 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 | a0035 | a0035c0053 | a0035c0053t0060 | a0035c0053t0060g0186 | 1 | 450 | 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 | a0035 | a0035c0053 | a0035c0053t0060 | a0035c0053t0060g0186 | 1 | 450 | 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 | a0023 | a0023c0027 | a0023c0027t0016 | a0023c0027t0016g0074 | 1 | 435 | 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 | a0024 | a0024c0032 | a0024c0032t0002 | a0024c0032t0002g0002 | 1 | 435 | 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 | a0038 | a0038c0040 | a0038c0040t0001 | a0038c0040t0001g0011 | 1 | 435 | 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 | a0027 | a0027c0041 | a0027c0041t0001 | a0027c0041t0001g0111 | 1 | 455 | 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 |