Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LRFN5_chr14_41601876_41909549	41808197	G G	GGGAAGGA others(13): Show GGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01261.hp1 HG02258.hp2 others(4): Show HG01175.hp1 HG01261.hp1 HG02258.hp2 HG02809.hp2 HG03486.hp2 HG03654.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0005t0023 a0002c0004t0001	a0001c0001t0001g0196 a0001c0001t0003g0246 a0001c0001t0004g0223 others(4): Show a0001c0001t0001g0196 a0001c0001t0003g0246 a0001c0001t0004g0223 a0001c0001t0005g0001 a0001c0002t0001g0131 a0001c0005t0023g0126 a0002c0004t0001g0108	7	280	0.0250	20	c.-21 others(39): Show c.-21+41189_-21+41208dupGGAAGGAAGGAAGGAAGGAA	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRFN5_chr14_41601876_41909549	41856675	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	280	0.0036	20	c.-20 others(39): Show c.-20-29912_-20-29911insTTTTTTTTTTTTTTTTTTTT	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRGUK_chr7_134122340_134269595	134178933	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAACC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0008 a0004c0007t0003g0008	1	220	0.0046	20	c.121 others(37): Show c.1214+339_1214+340insAAACCAAAAAAAAAAAAAAA	LRGUK	ENSG00000155530.4	transcript	ENST00000285928.3	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
LRGUK_chr7_134122340_134269595	134178934	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAACC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03516.hp1 HG01255.hp2 HG03516.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0004 a0004c0007t0003 a0004c0007t0004	a0004c0007t0003g0004 a0004c0007t0004g0002 a0004c0007t0003g0004 a0004c0007t0004g0002	2	220	0.0091	20	c.121 others(37): Show c.1214+339_1214+340insAAAACCAAAAAAAAAAAAAA	LRGUK	ENSG00000155530.4	transcript	ENST00000285928.3	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
LRGUK_chr7_134122340_134269595	134263413	G G	GTGTCTGT others(13): Show GTGTCTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01952.hp1 HG01993.hp2 others(27): Show HG01884.hp2 HG01952.hp1 HG01993.hp2 HG02080.hp2 HG02155.hp2 HG02293.hp2 HG02622.hp1 HG02818.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03453.hp1 HG03516.hp1 HG03654.hp1 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18960.hp1 NA18979.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp1 NA19007.hp2 NA19054.hp1 NA19060.hp2 NA19062.hp1 NA19067.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0017	a0001c0001 a0001c0003 a0001c0013 others(4): Show a0001c0001 a0001c0003 a0001c0013 a0002c0024 a0004c0007 a0007c0011 a0017c0027	a0001c0001t0003 a0001c0003t0003 a0001c0013t0003 others(4): Show a0001c0001t0003 a0001c0003t0003 a0001c0013t0003 a0002c0024t0003 a0004c0007t0003 a0007c0011t0003 a0017c0027t0003	a0001c0001t0003g0104 a0001c0001t0003g0120 a0001c0001t0003g0122 others(27): Show a0001c0001t0003g0104 a0001c0001t0003g0120 a0001c0001t0003g0122 a0001c0001t0003g0207 a0001c0003t0003g0005 a0001c0003t0003g0024 a0001c0003t0003g0110 a0001c0003t0003g0111 a0001c0003t0003g0116 a0001c0003t0003g0123 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0130 a0001c0003t0003g0131 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0138 a0001c0003t0003g0157 a0001c0003t0003g0220 a0001c0013t0003g0001 a0002c0024t0003g0219 a0004c0007t0003g0004 a0004c0007t0003g0008 a0007c0011t0003g0117 a0007c0011t0003g0119 a0017c0027t0003g0113	30	220	0.1364	20	c.234 others(37): Show c.2348-429_2348-428insCTGTGTGTGTGTGTGTCTGT	LRGUK	ENSG00000155530.4	transcript	ENST00000285928.3	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
LRIG1_chr3_66373797_66506022	66408913	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18950.hp2 NA18994.hp2 others(1): Show HG02071.hp1 NA18950.hp2 NA18994.hp2 NA19056.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0135 a0002c0001t0001g0149 a0002c0001t0001g0180 others(1): Show a0002c0001t0001g0135 a0002c0001t0001g0149 a0002c0001t0001g0180 a0002c0001t0001g0183	4	264	0.0152	20	c.935 others(37): Show c.935+1196_935+1215dupACACACACACACACACACAC	LRIG1	ENSG00000144749.14	transcript	ENST00000273261.8	protein_coding	7/18			chr3	TogoVar
LRIT3_chr4_109843107_109877315	109850422	C C	CCTTCCTT others(13): Show CCTTCCTTCTCTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0023 a0004c0005t0023	a0004c0005t0023g0117 a0004c0005t0023g0117	1	332	0.0030	20	c.117 others(37): Show c.117-1079_117-1078insCCTTCTCTTCTTTCTTTCTT	LRIT3	ENSG00000183423.12	transcript	ENST00000594814.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
LRMDA_chr10_75426624_76565168	75577931	A A	ACTGGTAC others(13): Show ACTGGTACCACAGTACAATTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19030.hp2 HG03471.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0019 a0001c0001t0003 a0001c0002t0019	a0001c0001t0003g0018 a0001c0002t0019g0045 a0001c0001t0003g0018 a0001c0002t0019g0045	2	46	0.0435	20	c.131 others(41): Show c.131+139437_131+139438insCTGGTACCACAGTACAATTT	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	2/6			chr10	TogoVar
LRMDA_chr10_75426624_76565168	75697850	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0021 a0001c0001t0012g0021	1	46	0.0217	20	c.131 others(41): Show c.131+259357_131+259358insTGTGTGTGTGTGTGCGCGCG	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRMDA_chr10_75426624_76565168	76084194	C C	CTATTTAT others(13): Show CTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03139.hp2 HG03471.hp1 others(4): Show HG00639.hp1 HG03139.hp2 HG03471.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0003 a0001c0002 a0003c0003	a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 others(4): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0014 a0001c0002t0019 a0003c0003t0009 a0003c0003t0017	a0001c0002t0002g0019 a0001c0002t0003g0013 a0001c0002t0006g0020 others(4): Show a0001c0002t0002g0019 a0001c0002t0003g0013 a0001c0002t0006g0020 a0001c0002t0014g0041 a0001c0002t0019g0045 a0003c0003t0009g0024 a0003c0003t0017g0042	7	46	0.1522	20	c.516 others(39): Show c.516+25413_516+25432dupATTTATTTATTTATTTATTT	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRMDA_chr10_75426624_76565168	76240763	G G	GAGATAGA others(13): Show GAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0009 a0003c0006t0009	a0003c0006t0009g0001 a0003c0006t0009g0001	1	46	0.0217	20	c.517 others(39): Show c.517-83616_517-83597dupGATAGATAGATAGATAGATA	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRMDA_chr10_75426624_76565168	76254300	T T	TATACTAT others(13): Show TATACTATACCATACCATACC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0003 a0001c0001t0007g0003	1	46	0.0217	20	c.517 others(39): Show c.517-70097_517-70096insTATACCATACCATACCATAC	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRMDA_chr10_75426624_76565168	76254300	T T	TATACTAT others(13): Show TATACTATACTATACCATACC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0046 a0001c0001t0007g0046	1	46	0.0217	20	c.517 others(39): Show c.517-70097_517-70096insTATACTATACCATACCATAC	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRMDA_chr10_75426624_76565168	76254340	C C	CATACCAT others(13): Show CATACCATACCATACCATCCT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02572.hp2 HG03209.hp1 others(1): Show HG01258.hp2 HG02572.hp2 HG03209.hp1 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0006 a0001c0001 a0002c0004 a0003c0006	a0001c0001t0001 a0001c0001t0018 a0002c0004t0004 others(1): Show a0001c0001t0001 a0001c0001t0018 a0002c0004t0004 a0003c0006t0009	a0001c0001t0001g0039 a0001c0001t0018g0015 a0002c0004t0004g0026 others(1): Show a0001c0001t0001g0039 a0001c0001t0018g0015 a0002c0004t0004g0026 a0003c0006t0009g0001	4	46	0.0870	20	c.517 others(39): Show c.517-70059_517-70058insACCATACCATACCATCCTAT	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRMDA_chr10_75426624_76565168	76254340	C C	CATACCAT others(13): Show CATACCATACCATCCTATCCT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0012 a0001c0002t0004g0012	1	46	0.0217	20	c.517 others(39): Show c.517-70059_517-70058insACCATACCATCCTATCCTAT	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRMDA_chr10_75426624_76565168	76363176	A A	AGAAAGAA others(13): Show AGAAAGAAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0026 a0002c0004t0004g0026	1	46	0.0217	20	c.601 others(39): Show c.601+38692_601+38693insAAAGAAGGGAGGGAGGGAGG	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRMDA_chr10_75426624_76565168	76363176	A A	AGAAAGGA others(13): Show AGAAAGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0034 a0001c0001t0005g0034	1	46	0.0217	20	c.601 others(39): Show c.601+38692_601+38693insAAAGGAGGGAGGGAGGGAGG	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRMDA_chr10_75426624_76565168	76365107	T T	TATATATA others(13): Show TATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	46	0.0217	20	c.601 others(39): Show c.601+40623_601+40624insTATATATATATACACACACA	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRMDA_chr10_75426624_76565168	76562369	A A	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0036	1	46	0.0217	20	c.50 others(31): Show c.5081_*5082insAGAGAGAGAGAGAGAGAGAG	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding		2202		chr10	TogoVar
LRP11_chr6_149813757_149869359	149846953	T T	TAATAGAA others(13): Show TAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01891.hp1 HG03239.hp2 others(7): Show HG01496.hp1 HG01891.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 NA18955.hp1 NA19003.hp2 NA19010.hp2 NA19064.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003	a0001c0001t0002g0295 a0002c0002t0001g0063 a0002c0002t0001g0065 others(7): Show a0001c0001t0002g0295 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0089 a0002c0002t0002g0092 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0003g0081	10	334	0.0299	20	c.772 others(37): Show c.772-3849_772-3830dupCTATTCTATTCTATTCTATT	LRP11	ENSG00000120256.11	transcript	ENST00000239367.7	protein_coding	2/6			chr6	TogoVar
LRP11_chr6_149813757_149869359	149859377	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18970.hp1 HG01081.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0264 a0001c0001t0001g0200 a0001c0001t0001g0264	2	334	0.0060	20	c.613 others(37): Show c.613+4011_613+4030dupATATATATATATATATATAT	LRP11	ENSG00000120256.11	transcript	ENST00000239367.7	protein_coding	1/6			chr6	TogoVar
LRP11_chr6_149813757_149869359	149859396	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0068	1	334	0.0030	20	c.613 others(37): Show c.613+4011_613+4012insAATATATATATATATATATA	LRP11	ENSG00000120256.11	transcript	ENST00000239367.7	protein_coding	1/6			chr6	TogoVar
LRP11_chr6_149813757_149869359	149859396	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	334	0.0030	20	c.613 others(37): Show c.613+4011_613+4012insAAAATATATATATATATATA	LRP11	ENSG00000120256.11	transcript	ENST00000239367.7	protein_coding	1/6			chr6	TogoVar
LRP12_chr8_104484236_104594258	104548938	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0020 a0002c0004t0012g0020	1	318	0.0031	20	c.80- others(37): Show c.80-16995_80-16976dupATTTATTTATTTATTTATTT	LRP12	ENSG00000147650.12	transcript	ENST00000276654.10	protein_coding	1/6			chr8	TogoVar
LRP1B_chr2_140226423_142136016	140291298	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01884.hp2 HG01261.hp1 HG01884.hp2	a0001 a0001	a0001c0007 a0001c0016 a0001c0007 a0001c0016	a0001c0007t0003 a0001c0016t0001 a0001c0007t0003 a0001c0016t0001	a0001c0007t0003g0003 a0001c0016t0001g0011 a0001c0007t0003g0003 a0001c0016t0001g0011	2	28	0.0714	20	c.129 others(41): Show c.12967+6490_12967+6509dupTATATATATATATATATATA	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	84/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	140361341	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0006 a0002c0004t0004g0006	1	28	0.0357	20	c.111 others(41): Show c.11132-2415_11132-2396dupATATATATATATATATATAT	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	72/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	140440743	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03516.hp1 HG02486.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0006 a0001c0024t0005 a0001c0001t0006 a0001c0024t0005	a0001c0001t0006g0024 a0001c0024t0005g0009 a0001c0001t0006g0024 a0001c0024t0005g0009	2	28	0.0714	20	c.104 others(41): Show c.10414+1760_10414+1761insCACACACACACACACACACA	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	66/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	140623956	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02965.hp2 HG03516.hp1 HG01261.hp1 HG02965.hp2 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0021 a0001c0001 a0001c0007 a0003c0021	a0001c0001t0006 a0001c0007t0003 a0003c0021t0001 a0001c0001t0006 a0001c0007t0003 a0003c0021t0001	a0001c0001t0006g0024 a0001c0007t0003g0003 a0003c0021t0001g0026 a0001c0001t0006g0024 a0001c0007t0003g0003 a0003c0021t0001g0026	3	28	0.1071	20	c.680 others(41): Show c.6800-22318_6800-22317insTATATATATATATATATATA	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	41/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	140803290	T T	TTTTTTTT others(13): Show TTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0007 a0001c0020t0007	a0001c0020t0007g0019 a0001c0020t0007g0019	1	28	0.0357	20	c.535 others(41): Show c.5359+10366_5359+10367insGAAAAAAAAAAAAAAAAAAA	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	32/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	140808220	T T	TAAATCAA others(13): Show TAAATCAAACCTAAGTGAGCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02922.hp1 others(4): Show HG01884.hp1 HG02145.hp2 HG02922.hp1 HG02965.hp1 HG03516.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0013 others(4): Show a0001c0001 a0001c0005 a0001c0013 a0001c0019 a0001c0027 a0002c0004 a0002c0006	a0001c0001t0006 a0001c0005t0008 a0001c0013t0002 others(4): Show a0001c0001t0006 a0001c0005t0008 a0001c0013t0002 a0001c0019t0001 a0001c0027t0001 a0002c0004t0004 a0002c0006t0002	a0001c0001t0006g0024 a0001c0005t0008g0010 a0001c0013t0002g0012 others(4): Show a0001c0001t0006g0024 a0001c0005t0008g0010 a0001c0013t0002g0012 a0001c0019t0001g0016 a0001c0027t0001g0021 a0002c0004t0004g0006 a0002c0006t0002g0023	7	28	0.2500	20	c.535 others(39): Show c.5359+5436_5359+5437insGGCTCACTTAGGTTTGATTT	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	32/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	140872360	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0003 a0001c0007t0003g0003	1	28	0.0357	20	c.417 others(39): Show c.4170-4117_4170-4098dupAAAAAAAAAAAAAAAAAAAA	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	25/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	141131407	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02486.hp2 HG02559.hp1 others(2): Show HG01261.hp1 HG02486.hp2 HG02559.hp1 HG02965.hp2 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0007 a0001c0023 others(2): Show a0001c0002 a0001c0007 a0001c0023 a0001c0024 a0003c0021	a0001c0002t0010 a0001c0007t0003 a0001c0023t0003 others(2): Show a0001c0002t0010 a0001c0007t0003 a0001c0023t0003 a0001c0024t0005 a0003c0021t0001	a0001c0002t0010g0022 a0001c0007t0003g0003 a0001c0023t0003g0001 others(2): Show a0001c0002t0010g0022 a0001c0007t0003g0003 a0001c0023t0003g0001 a0001c0024t0005g0009 a0003c0021t0001g0026	5	28	0.1786	20	c.101 others(41): Show c.1013+56994_1013+57013dupTATATATATATATATATATA	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	7/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	141365654	G G	GCTTTTTT others(13): Show GCTTTTTTTTTTTTTTTGGCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19240.hp1 HG02451.hp1 NA19240.hp1	a0002 a0005 a0002 a0005	a0002c0006 a0005c0003 a0002c0006 a0005c0003	a0002c0006t0002 a0005c0003t0002 a0002c0006t0002 a0005c0003t0002	a0002c0006t0002g0023 a0005c0003t0002g0027 a0002c0006t0002g0023 a0005c0003t0002g0027	2	28	0.0714	20	c.344 others(41): Show c.344-111014_344-111013insAGCCAAAAAAAAAAAAAAAG	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	3/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	141365655	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTGGCTCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0016 a0001c0019t0001g0016	1	28	0.0357	20	c.344 others(41): Show c.344-111015_344-111014insAGAGCCAAAAAAAAAAAAAA	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	3/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	141397113	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp2 HG02486.hp1 HG02559.hp2	a0001 a0001	a0001c0014 a0001c0015 a0001c0014 a0001c0015	a0001c0014t0004 a0001c0015t0009 a0001c0014t0004 a0001c0015t0009	a0001c0014t0004g0002 a0001c0015t0009g0017 a0001c0014t0004g0002 a0001c0015t0009g0017	2	28	0.0714	20	c.343 others(39): Show c.343+83263_343+83282dupTTTTTTTTTTTTTTTTTTTT	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	3/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	141431142	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0004 a0001c0022t0004	a0001c0022t0004g0004 a0001c0022t0004g0004	1	28	0.0357	20	c.343 others(39): Show c.343+49234_343+49253dupATTTATTTATTTATTTATTT	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	3/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	141490369	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0002 a0005c0003t0002	a0005c0003t0002g0027 a0005c0003t0002g0027	1	28	0.0357	20	c.206 others(37): Show c.206-9837_206-9836insCACACACACACACACACACA	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	2/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	141544343	C C	CTTCTTCT others(13): Show CTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0013 a0001c0018t0002g0013	1	28	0.0357	20	c.206 others(39): Show c.206-63830_206-63811dupAAGAAGAAGAAGAAGAAGAA	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	2/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	141601599	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp2 HG02630.hp1 HG02723.hp2	a0001 a0001	a0001c0010 a0001c0028 a0001c0010 a0001c0028	a0001c0010t0011 a0001c0028t0002 a0001c0010t0011 a0001c0028t0002	a0001c0010t0011g0028 a0001c0028t0002g0020 a0001c0010t0011g0028 a0001c0028t0002g0020	2	28	0.0714	20	c.206 others(41): Show c.206-121086_206-121067dupGGAAGGAAGGAAGGAAGGAA	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	2/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	141709365	T T	TAAATAAA others(13): Show TAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0024 a0001c0001t0006g0024	1	28	0.0357	20	c.205 others(41): Show c.205+100894_205+100913dupTATTTTATTTTATTTTATTT	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	2/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	141752945	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0001 a0001c0023t0003g0001	1	28	0.0357	20	c.205 others(39): Show c.205+57333_205+57334insTTTTTTTTTTTTTTTTTTTT	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	2/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	141753263	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0005 a0001c0024t0005	a0001c0024t0005g0009 a0001c0024t0005g0009	1	28	0.0357	20	c.205 others(39): Show c.205+56996_205+57015dupATATATATATATATATATAT	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	2/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	141916348	C C	CTTATTTA others(13): Show CTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0001 a0001c0023t0003g0001	1	28	0.0357	20	c.83- others(39): Show c.83-105967_83-105948dupATAAATAAATAAATAAATAA	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	1/90			chr2	TogoVar
LRP1B_chr2_140226423_142136016	141923403	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp1 HG03516.hp1 HG02451.hp2 HG02723.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0012 a0001c0001 a0001c0011 a0001c0012	a0001c0001t0006 a0001c0011t0001 a0001c0012t0003 a0001c0001t0006 a0001c0011t0001 a0001c0012t0003	a0001c0001t0006g0024 a0001c0011t0001g0014 a0001c0012t0003g0005 a0001c0001t0006g0024 a0001c0011t0001g0014 a0001c0012t0003g0005	3	28	0.1071	20	c.83- others(39): Show c.83-113022_83-113003dupTATATATATATATATATATA	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	1/90			chr2	TogoVar
LRP2BP_chr4_185358872_185400924	185360950	T T	TATATATA others(13): Show TATATATATATATATAGATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01884.hp2 HG02280.hp1 others(14): Show HG00544.hp2 HG01884.hp2 HG02280.hp1 HG02630.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG03669.hp1 NA18954.hp2 NA18955.hp1 NA18985.hp2 NA18998.hp2 NA19009.hp1 NA19054.hp1 NA19056.hp1 NA19062.hp1 NA19065.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0011 a0001c0003t0017 others(5): Show a0001c0003t0009 a0001c0003t0011 a0001c0003t0017 a0001c0003t0026 a0001c0003t0034 a0001c0003t0048 a0001c0003t0049 a0001c0003t0094	a0001c0003t0009g0008 a0001c0003t0009g0239 a0001c0003t0009g0240 others(13): Show a0001c0003t0009g0008 a0001c0003t0009g0239 a0001c0003t0009g0240 a0001c0003t0009g0243 a0001c0003t0009g0244 a0001c0003t0009g0251 a0001c0003t0009g0253 a0001c0003t0011g0020 a0001c0003t0011g0052 a0001c0003t0017g0028 a0001c0003t0026g0066 a0001c0003t0034g0289 a0001c0003t0034g0290 a0001c0003t0048g0051 a0001c0003t0049g0027 a0001c0003t0094g0237	17	348	0.0489	20	c.62 others(31): Show c.6229_*6230insCTATCTATATATATATATAT	LRP2BP	ENSG00000109771.16	transcript	ENST00000505916.6	protein_coding		2921		chr4	TogoVar
LRP2BP_chr4_185358872_185400924	185375485	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0109 a0001c0001t0003g0109	1	348	0.0029	20	c.330 others(35): Show c.330+127_330+128insATATATATATATATATATAT	LRP2BP	ENSG00000109771.16	transcript	ENST00000505916.6	protein_coding	4/8			chr4	TogoVar
LRP2BP_chr4_185358872_185400924	185375512	A A	ATATATAT others(13): Show ATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0046 a0001c0003t0046	a0001c0003t0046g0021 a0001c0003t0046g0021	1	348	0.0029	20	c.330 others(35): Show c.330+100_330+101insCATATATATATACATATATA	LRP2BP	ENSG00000109771.16	transcript	ENST00000505916.6	protein_coding	4/8			chr4	TogoVar
LRP2_chr2_169122109_169367534	169168018	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp2 HG00642.hp1 others(22): Show HG00323.hp2 HG00621.hp2 HG00642.hp1 HG01175.hp1 HG01175.hp2 HG01515.hp2 HG02080.hp2 HG02145.hp1 HG02523.hp2 HG02572.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02818.hp1 HG02922.hp1 HG02976.hp2 HG03225.hp2 HG03453.hp1 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA18982.hp2 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0016 a0019 a0021 a0022 a0038 a0049 a0062 a0065	a0001c0001 a0001c0005 a0001c0013 others(20): Show a0001c0001 a0001c0005 a0001c0013 a0001c0039 a0001c0048 a0001c0075 a0001c0099 a0001c0106 a0002c0003 a0002c0034 a0002c0117 a0002c0167 a0003c0023 a0003c0028 a0003c0073 a0016c0037 a0019c0030 a0021c0042 a0022c0040 a0038c0080 a0049c0151 a0062c0136 a0065c0176	a0001c0001t0001 a0001c0005t0002 a0001c0013t0002 others(20): Show a0001c0001t0001 a0001c0005t0002 a0001c0013t0002 a0001c0039t0001 a0001c0048t0002 a0001c0075t0001 a0001c0099t0001 a0001c0106t0001 a0002c0003t0001 a0002c0034t0004 a0002c0117t0001 a0002c0167t0006 a0003c0023t0001 a0003c0028t0006 a0003c0073t0001 a0016c0037t0001 a0019c0030t0020 a0021c0042t0010 a0022c0040t0003 a0038c0080t0009 a0049c0151t0010 a0062c0136t0006 a0065c0176t0015	a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0005t0002g0006 others(22): Show a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0005t0002g0006 a0001c0005t0002g0058 a0001c0013t0002g0183 a0001c0039t0001g0020 a0001c0048t0002g0041 a0001c0075t0001g0102 a0001c0099t0001g0107 a0001c0106t0001g0055 a0002c0003t0001g0179 a0002c0034t0004g0236 a0002c0117t0001g0171 a0002c0167t0006g0119 a0003c0023t0001g0062 a0003c0028t0006g0153 a0003c0073t0001g0229 a0016c0037t0001g0115 a0019c0030t0020g0086 a0021c0042t0010g0073 a0022c0040t0003g0127 a0038c0080t0009g0206 a0049c0151t0010g0138 a0062c0136t0006g0003 a0065c0176t0015g0076	25	250	0.1000	20	c.116 others(39): Show c.11635+501_11635+520dupATATATATATATATATATAT	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	61/78			chr2	TogoVar
LRP2_chr2_169122109_169367534	169254643	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp2 HG01361.hp1 others(19): Show HG00639.hp2 HG01074.hp2 HG01361.hp1 HG01952.hp1 HG02071.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02886.hp1 HG02965.hp2 HG03490.hp2 HG06807.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18979.hp2 NA19060.hp2 NA19079.hp1 NA19086.hp1 NA19090.hp2 NA19091.hp2 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0012 a0016 a0019 a0023 a0024 a0069	a0001c0001 a0001c0005 a0001c0009 others(16): Show a0001c0001 a0001c0005 a0001c0009 a0001c0010 a0001c0018 a0001c0049 a0001c0050 a0001c0074 a0002c0003 a0002c0132 a0003c0094 a0005c0137 a0012c0095 a0016c0037 a0016c0178 a0019c0030 a0023c0125 a0024c0155 a0069c0114	a0001c0001t0001 a0001c0001t0004 a0001c0005t0002 others(18): Show a0001c0001t0001 a0001c0001t0004 a0001c0005t0002 a0001c0009t0001 a0001c0010t0001 a0001c0018t0007 a0001c0049t0001 a0001c0050t0003 a0001c0074t0001 a0002c0003t0003 a0002c0132t0003 a0003c0094t0003 a0005c0137t0004 a0012c0095t0001 a0016c0037t0001 a0016c0178t0001 a0019c0030t0001 a0019c0030t0020 a0023c0125t0001 a0024c0155t0001 a0069c0114t0006	a0001c0001t0001g0042 a0001c0001t0004g0209 a0001c0005t0002g0045 others(19): Show a0001c0001t0001g0042 a0001c0001t0004g0209 a0001c0005t0002g0045 a0001c0009t0001g0016 a0001c0010t0001g0039 a0001c0010t0001g0129 a0001c0018t0007g0084 a0001c0049t0001g0207 a0001c0050t0003g0113 a0001c0074t0001g0047 a0002c0003t0003g0198 a0002c0132t0003g0176 a0003c0094t0003g0120 a0005c0137t0004g0005 a0012c0095t0001g0007 a0016c0037t0001g0094 a0016c0178t0001g0088 a0019c0030t0001g0212 a0019c0030t0020g0086 a0023c0125t0001g0034 a0024c0155t0001g0033 a0069c0114t0006g0037	22	250	0.0880	20	c.277 others(39): Show c.2770+1462_2770+1463insTTTTTTTTTTTTTTTTTTTT	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	19/78			chr2	TogoVar
LRP2_chr2_169122109_169367534	169254643	T T	TTAAAAAA others(13): Show TTAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0005 a0005	a0005c0129 a0005c0129	a0005c0129t0004 a0005c0129t0004	a0005c0129t0004g0163 a0005c0129t0004g0163	1	250	0.0040	20	c.277 others(39): Show c.2770+1462_2770+1463insTTTTTTTTTTTTTTTTTTTA	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	19/78			chr2	TogoVar

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