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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KRTAP16-1_chr17_41302700_41314309 | 41310389 | G | GAAAGAAA others(25): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 HG02965.hp2 NA18906.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0000 a0003c0004t0001g0000 |
3 | 256 | 0.0117 | 32 | c.-11 others(43): Show |
KRTAP16-1 | ENSG00000212657.2 | transcript | ENST00000391352.2 | protein_coding | 1081 | chr17 | TogoVar | |||||||
KRTAP16-1_chr17_41302700_41314309 | 41310389 | G | GAAAGAAA others(25): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 HG02074.hp1 HG02257.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 6 | 259 | 0.0232 | 32 | c.-11 others(43): Show |
KRTAP16-1 | ENSG00000212657.2 | transcript | ENST00000391352.2 | protein_coding | 1081 | chr17 | TogoVar | |||||||
KRTAP16-1_chr17_41302700_41314309 | 41310389 | G | GAAAGAAA others(25): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0000 | 1 | 254 | 0.0039 | 32 | c.-11 others(43): Show |
KRTAP16-1 | ENSG00000212657.2 | transcript | ENST00000391352.2 | protein_coding | 1081 | chr17 | TogoVar | |||||||
KRTAP16-1_chr17_41302700_41314309 | 41310389 | G | GAAAGGAA others(25): Show |
upstream_gene_variant | MODIFIER | HG02293.hp2 NA18997.hp1 NA19064.hp1 others(1): Show |
a0001a0007a0013 | a0001c0001a0007c0008a0013c0015 | a0001c0001t0001a0007c0008t0001a0013c0015t0001 | a0001c0001t0001g0000 a0007c0008t0001g0000 a0013c0015t0001g0000 |
4 | 257 | 0.0156 | 32 | c.-11 others(43): Show |
KRTAP16-1 | ENSG00000212657.2 | transcript | ENST00000391352.2 | protein_coding | 1081 | chr17 | TogoVar | |||||||
KRTAP16-1_chr17_41302700_41314309 | 41310409 | G | GGAAAGAA others(25): Show |
upstream_gene_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 54 | 0.0185 | 32 | c.-11 others(43): Show |
KRTAP16-1 | ENSG00000212657.2 | transcript | ENST00000391352.2 | protein_coding | 1101 | chr17 | TogoVar | |||||||
KRTAP17-1_chr17_41309912_41320710 | 41310386 | A | AAAGAAAG others(25): Show |
downstream_gene_variant | MODIFIER | NA18966.hp1 NA18966.hp2 NA18976.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0000 a0001c0003t0001g0000 |
3 | 325 | 0.0092 | 32 | c.*49 others(43): Show |
KRTAP17-1 | ENSG00000186860.5 | transcript | ENST00000334202.5 | protein_coding | 4525 | chr17 | TogoVar | |||||||
KRTAP17-1_chr17_41309912_41320710 | 41310389 | G | GAAAGAAA others(25): Show |
downstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 253 | 0.0040 | 32 | c.*49 others(43): Show |
KRTAP17-1 | ENSG00000186860.5 | transcript | ENST00000334202.5 | protein_coding | 4522 | chr17 | TogoVar | |||||||
KRTAP17-1_chr17_41309912_41320710 | 41310389 | G | GAAAGAAA others(25): Show |
downstream_gene_variant | MODIFIER | HG01169.hp1 NA18993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 254 | 0.0079 | 32 | c.*49 others(43): Show |
KRTAP17-1 | ENSG00000186860.5 | transcript | ENST00000334202.5 | protein_coding | 4522 | chr17 | TogoVar | |||||||
KRTAP17-1_chr17_41309912_41320710 | 41310389 | G | GAAAGAAA others(25): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 HG02965.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0000 a0001c0003t0001g0000 |
3 | 255 | 0.0118 | 32 | c.*49 others(43): Show |
KRTAP17-1 | ENSG00000186860.5 | transcript | ENST00000334202.5 | protein_coding | 4522 | chr17 | TogoVar | |||||||
KRTAP17-1_chr17_41309912_41320710 | 41310389 | G | GAAAGAAA others(25): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 HG02074.hp2 HG02257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 257 | 0.0195 | 32 | c.*49 others(43): Show |
KRTAP17-1 | ENSG00000186860.5 | transcript | ENST00000334202.5 | protein_coding | 4522 | chr17 | TogoVar | |||||||
KRTAP17-1_chr17_41309912_41320710 | 41310389 | G | GAAAGGAA others(25): Show |
downstream_gene_variant | MODIFIER | HG02293.hp2 NA19064.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 255 | 0.0118 | 32 | c.*49 others(43): Show |
KRTAP17-1 | ENSG00000186860.5 | transcript | ENST00000334202.5 | protein_coding | 4522 | chr17 | TogoVar | |||||||
KRTAP17-1_chr17_41309912_41320710 | 41310409 | G | GGAAAGAA others(25): Show |
downstream_gene_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 57 | 0.0175 | 32 | c.*49 others(43): Show |
KRTAP17-1 | ENSG00000186860.5 | transcript | ENST00000334202.5 | protein_coding | 4502 | chr17 | TogoVar | |||||||
KRTAP19-7_chr21_30555875_30566314 | 30562378 | T | TATATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG03688.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 419 | 0.0048 | 32 | c.-10 others(43): Show |
KRTAP19-7 | ENSG00000244362.3 | transcript | ENST00000334849.2 | protein_coding | 1065 | chr21 | TogoVar | |||||||
KRTAP19-7_chr21_30555875_30566314 | 30562380 | T | TATATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 410 | 0.0024 | 32 | c.-10 others(43): Show |
KRTAP19-7 | ENSG00000244362.3 | transcript | ENST00000334849.2 | protein_coding | 1067 | chr21 | TogoVar | |||||||
KRTAP19-7_chr21_30555875_30566314 | 30562384 | T | TATATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0000 | 1 | 377 | 0.0027 | 32 | c.-10 others(43): Show |
KRTAP19-7 | ENSG00000244362.3 | transcript | ENST00000334849.2 | protein_coding | 1071 | chr21 | TogoVar | |||||||
KRTAP19-7_chr21_30555875_30566314 | 30562392 | T | TATATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 402 | 0.0025 | 32 | c.-11 others(43): Show |
KRTAP19-7 | ENSG00000244362.3 | transcript | ENST00000334849.2 | protein_coding | 1079 | chr21 | TogoVar | |||||||
KRTAP2-1_chr17_41041541_41052316 | 41051131 | A | AATATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 262 | 0.0038 | 32 | c.-38 others(43): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 3816 | chr17 | TogoVar | |||||||
KRTAP2-2_chr17_41049498_41060230 | 41050842 | T | TAAAATAT others(25): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 | a0006 | a0006c0009 | a0006c0009t0002 | a0006c0009t0002g0000 | 1 | 409 | 0.0024 | 32 | c.*39 others(43): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3655 | chr17 | TogoVar | |||||||
KRTAP2-2_chr17_41049498_41060230 | 41051131 | A | AATATATA others(25): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 1 | 259 | 0.0039 | 32 | c.*37 others(43): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3366 | chr17 | TogoVar | |||||||
KRTAP3-1_chr17_41003521_41014128 | 41007665 | G | GTATATAT others(25): Show |
downstream_gene_variant | MODIFIER | HG03492.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 235 | 0.0085 | 32 | c.*11 others(43): Show |
KRTAP3-1 | ENSG00000212901.4 | transcript | ENST00000391588.3 | protein_coding | 855 | chr17 | TogoVar | |||||||
KRTAP3-2_chr17_40994193_41004906 | 41001915 | G | GTGTGTGT others(25): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01099.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 23 | 470 | 0.0489 | 32 | c.-20 others(43): Show |
KRTAP3-2 | ENSG00000212900.3 | transcript | ENST00000391587.3 | protein_coding | 2010 | chr17 | TogoVar | |||||||
KRTAP3-3_chr17_40988430_40999164 | 40989333 | A | ATCCATAG others(25): Show |
downstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 470 | 0.0021 | 32 | c.*44 others(43): Show |
KRTAP3-3 | ENSG00000212899.3 | transcript | ENST00000391586.3 | protein_coding | 4096 | chr17 | TogoVar | |||||||
KRTAP4-7_chr17_41079150_41090144 | 41090041 | G | GCAAGAAA others(25): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG03471.hp2 NA21309.hp1 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0000 | 3 | 383 | 0.0078 | 32 | c.*53 others(43): Show |
KRTAP4-7 | ENSG00000240871.7 | transcript | ENST00000391417.6 | protein_coding | 4898 | chr17 | TogoVar | |||||||
KRTAP4-7_chr17_41079150_41090144 | 41090064 | C | CAAGAAAG others(25): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0000 | 1 | 147 | 0.0068 | 32 | c.*53 others(43): Show |
KRTAP4-7 | ENSG00000240871.7 | transcript | ENST00000391417.6 | protein_coding | 4921 | chr17 | TogoVar | |||||||
KRTAP4-9_chr17_41100389_41111488 | 41108195 | C | CCTTCCTT others(25): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(181): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 184 | 424 | 0.4340 | 32 | c.*21 others(43): Show |
KRTAP4-9 | ENSG00000212722.9 | transcript | ENST00000391415.2 | protein_coding | 1708 | chr17 | TogoVar | |||||||
KRTAP4-9_chr17_41100389_41111488 | 41108228 | C | CTTCCTTA others(25): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 424 | 0.0047 | 32 | c.*22 others(43): Show |
KRTAP4-9 | ENSG00000212722.9 | transcript | ENST00000391415.2 | protein_coding | 1741 | chr17 | TogoVar | |||||||
KRTAP4-9_chr17_41100389_41111488 | 41110042 | A | AAAGCAAG others(25): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 403 | 0.0025 | 32 | c.*40 others(43): Show |
KRTAP4-9 | ENSG00000212722.9 | transcript | ENST00000391415.2 | protein_coding | 3555 | chr17 | TogoVar | |||||||
KRTAP5-10_chr11_71560563_71571735 | 71569137 | T | TGGGGGGG others(25): Show |
downstream_gene_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 1 | 466 | 0.0021 | 32 | c.*29 others(43): Show |
KRTAP5-10 | ENSG00000204572.10 | transcript | ENST00000398531.3 | protein_coding | 2403 | chr11 | TogoVar | |||||||
KRTAP5-1_chr11_1579342_1590283 | 1583879 | G | GGTGTGTG others(25): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG01175.hp2 others(19): Show |
a0002a0003a0007 | a0002c0002a0003c0003a0007c0008 | a0002c0002t0001a0003c0003t0001a0007c0008t0001 | a0002c0002t0001g0000 a0003c0003t0001g0000 a0007c0008t0001g0000 |
22 | 138 | 0.1594 | 32 | c.*53 others(41): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 462 | chr11 | TogoVar | |||||||
KRTAP5-3_chr11_1602565_1613463 | 1605805 | T | TTATGTAT others(25): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 426 | 0.0023 | 32 | c.*18 others(43): Show |
KRTAP5-3 | ENSG00000196224.7 | transcript | ENST00000399685.1 | protein_coding | 1759 | chr11 | TogoVar | |||||||
KRTAP5-5_chr11_1624775_1635930 | 1629420 | G | GCAAGACA others(25): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG01255.hp2 HG01261.hp1 others(2): Show |
a0005a0009 | a0005c0017a0009c0010 | a0005c0017t0004a0009c0010t0004 | a0005c0017t0004g0000 a0009c0010t0004g0000 |
5 | 444 | 0.0113 | 32 | c.-42 others(41): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 354 | chr11 | TogoVar | |||||||
KRTAP5-7_chr11_71522267_71533669 | 71522658 | T | TGCCGTAT others(25): Show |
upstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 458 | 0.0022 | 32 | c.-46 others(43): Show |
KRTAP5-7 | ENSG00000244411.4 | transcript | ENST00000398536.6 | protein_coding | 4608 | chr11 | TogoVar | |||||||
KRTAP7-1_chr21_30824039_30834759 | 30825678 | G | GAAAAGTT others(25): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 423 | 0.0024 | 32 | c.*37 others(43): Show |
KRTAP7-1 | ENSG00000274749.1 | transcript | ENST00000621162.1 | protein_coding | 3360 | chr21 | TogoVar | |||||||
KRTAP9-6_chr17_41260378_41270860 | 41263222 | T | TGAAGGAA others(25): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG01243.hp2 HG01516.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 14 | 28 | 0.5000 | 32 | c.-21 others(43): Show |
KRTAP9-6 | ENSG00000212659.2 | transcript | ENST00000391355.2 | protein_coding | 2155 | chr17 | TogoVar | |||||||
KSR1_chr17_27451448_27631435 | 27563981 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02818.hp2 |
a0001 | a0001c0010 | a0001c0010t0003 | a0001c0010t0003g0001 | 2 | 67 | 0.0299 | 32 | c.372 others(51): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117611445 | G | GACACACA others(25): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0003 | a0001c0003t0122 | a0001c0003t0122g0136 | 1 | 47 | 0.0213 | 32 | c.117 others(53): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117656940 | G | GGAGATAT others(25): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0013a0001c0001t0117a0001c0003t0002others(2): Show | a0001c0001t0013g0128 a0001c0001t0117g0121 a0001c0003t0002g0146 others(2): Show |
5 | 191 | 0.0262 | 32 | c.117 others(53): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117794000 | A | ACACACAC others(25): Show |
intron_variant | MODIFIER | NA18906.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0100a0001c0001t0111 | a0001c0001t0100g0148 a0001c0001t0111g0174 |
2 | 191 | 0.0105 | 32 | c.473 others(51): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
KYNU_chr2_142872664_143060833 | 142977372 | G | GAGATATA others(25): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0270 | 1 | 160 | 0.0063 | 32 | c.730 others(49): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KYNU_chr2_142872664_143060833 | 142977372 | G | GATATATA others(25): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02273.hp1 HG03710.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0014others(4): Show | a0001c0001t0001g0008 a0001c0001t0009g0172 a0001c0001t0014g0239 others(5): Show |
8 | 167 | 0.0479 | 32 | c.730 others(49): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
L1CAM_chrX_153856516_153891173 | 153859456 | A | AAAGGAAG others(25): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0051 | 1 | 197 | 0.0051 | 32 | c.*32 others(43): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 2059 | chrX | TogoVar | |||||||
L1TD1_chr1_62189849_62217328 | 62216224 | A | AAAACAAA others(25): Show |
downstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0236 | 1 | 397 | 0.0025 | 32 | c.*48 others(43): Show |
L1TD1 | ENSG00000240563.2 | transcript | ENST00000498273.2 | protein_coding | 3897 | chr1 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 5960047 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0093 | 1 | 92 | 0.0109 | 32 | c.167 others(47): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 18/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6099585 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG01952.hp2 HG03017.hp1 HG03486.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0002a0001c0004t0006a0002c0002t0001 | a0001c0001t0002g0029 a0001c0001t0002g0062 a0001c0004t0006g0074 others(1): Show |
4 | 5 | 0.8000 | 32 | c.120 others(51): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 14/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6118208 | A | AACACACA others(25): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01981.hp2 NA19009.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0006 a0001c0001t0002g0044 a0002c0002t0001g0021 |
3 | 46 | 0.0652 | 32 | c.119 others(53): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 14/18 | chr18 | TogoVar | |||||||
LAMA1_chr18_6936742_7122797 | 7021794 | A | AATAATAT others(25): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0041 | a0041c0126 | a0041c0126t0002 | a0041c0126t0002g0034 | 1 | 263 | 0.0038 | 32 | c.270 others(51): Show |
LAMA1 | ENSG00000101680.16 | transcript | ENST00000389658.4 | protein_coding | 19/62 | chr18 | TogoVar | |||||||
LAMA1_chr18_6936742_7122797 | 7031680 | C | CAAATAAA others(25): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03098.hp2 HG03453.hp2 others(2): Show |
a0059a0091a0098others(2): Show | a0059c0037a0091c0043a0098c0051others(2): Show | a0059c0037t0006a0091c0043t0002a0098c0051t0001others(2): Show | a0059c0037t0006g0242 a0091c0043t0002g0114 a0098c0051t0001g0276 others(2): Show |
5 | 164 | 0.0305 | 32 | c.227 others(49): Show |
LAMA1 | ENSG00000101680.16 | transcript | ENST00000389658.4 | protein_coding | 16/62 | chr18 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 129066038 | G | GTATGTCT others(25): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0014 | a0014c0010 | a0014c0010t0003 | a0014c0010t0003g0054 | 1 | 17 | 0.0588 | 32 | c.396 others(49): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 3/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129200274 | G | GTGTATAT others(25): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02895.hp2 HG02897.hp1 others(1): Show |
a0002a0003a0026 | a0002c0003a0003c0018a0026c0037 | a0002c0003t0003a0003c0018t0001a0026c0037t0001 | a0002c0003t0003g0038 a0002c0003t0003g0039 a0003c0018t0001g0032 others(1): Show |
4 | 59 | 0.0678 | 32 | c.178 others(51): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 12/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129205478 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG00323.hp1 HG04204.hp2 NA18979.hp1 |
a0001a0005a0033 | a0001c0067a0005c0015a0033c0013 | a0001c0067t0001a0005c0015t0001a0033c0013t0002 | a0001c0067t0001g0070 a0005c0015t0001g0061 a0033c0013t0002g0031 |
3 | 55 | 0.0545 | 32 | c.178 others(53): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 12/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |