Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LAMA2_chr6_128878138_129521566	129205493	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0016 a0016	a0016c0064 a0016c0064	a0016c0064t0004 a0016c0064t0004	a0016c0064t0004g0073 a0016c0064t0004g0073	1	74	0.0135	32	c.178 others(53): Show c.1782+12641_1782+12642insTATATATATATATATATATATATA TATATACA	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	12/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129286737	A A	ATAATAAT others(25): Show ATAATAATATATAATATATTATATTTATATAAT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19084.hp1 NA18979.hp2 NA19084.hp1	a0001 a0001	a0001c0011 a0001c0049 a0001c0011 a0001c0049	a0001c0011t0001 a0001c0049t0001 a0001c0011t0001 a0001c0049t0001	a0001c0011t0001g0047 a0001c0049t0001g0041 a0001c0011t0001g0047 a0001c0049t0001g0041	2	86	0.0233	32	c.253 others(51): Show c.2538-1110_2538-1109insTAATAATATATAATATATTATATTTA TATAAT	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	18/64			chr6	TogoVar
LAMA3_chr18_23684453_23960066	23687744	C C	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0257 a0001c0002t0001g0257	1	277	0.0036	32	c.-19 others(43): Show c.-1940_-1939insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	LAMA3	ENSG00000053747.17	transcript	ENST00000313654.14	protein_coding		1708		chr18	TogoVar
LAMA3_chr18_23684453_23960066	23687746	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02886.hp1 HG02976.hp1 others(4): Show HG01167.hp1 HG02886.hp1 HG02976.hp1 HG03209.hp1 HG03492.hp2 HG04199.hp2 NA19030.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0010 a0013 a0029 a0032	a0001c0002 a0002c0044 a0003c0004 others(4): Show a0001c0002 a0002c0044 a0003c0004 a0010c0024 a0013c0057 a0029c0033 a0032c0034	a0001c0002t0001 a0002c0044t0001 a0003c0004t0001 others(4): Show a0001c0002t0001 a0002c0044t0001 a0003c0004t0001 a0010c0024t0001 a0013c0057t0001 a0029c0033t0001 a0032c0034t0001	a0001c0002t0001g0278 a0002c0044t0001g0251 a0003c0004t0001g0270 others(4): Show a0001c0002t0001g0278 a0002c0044t0001g0251 a0003c0004t0001g0270 a0010c0024t0001g0254 a0013c0057t0001g0154 a0029c0033t0001g0264 a0032c0034t0001g0280	7	133	0.0526	32	c.-19 others(43): Show c.-1938_-1937insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	LAMA3	ENSG00000053747.17	transcript	ENST00000313654.14	protein_coding		1706		chr18	TogoVar
LAMA3_chr18_23684453_23960066	23837570	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0082 a0005c0006t0001g0082	1	53	0.0189	32	c.309 others(49): Show c.3093+505_3093+506insATATATATATATATATATATATATATAT ATAT	LAMA3	ENSG00000053747.17	transcript	ENST00000313654.14	protein_coding	25/74		INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA4_chr6_112102931_112259567	112207518	A A	AAACCAAC others(25): Show AAACCAACCAACGAACCAACCAACCAACCAACC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02970.hp1 HG03195.hp1 others(3): Show HG02818.hp2 HG02970.hp1 HG03195.hp1 HG03195.hp2 NA20129.hp2 NA20300.hp2	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0009	a0001c0023 a0001c0037 a0004c0057 others(2): Show a0001c0023 a0001c0037 a0004c0057 a0008c0015 a0009c0017	a0001c0023t0003 a0001c0037t0003 a0004c0057t0003 others(2): Show a0001c0023t0003 a0001c0037t0003 a0004c0057t0003 a0008c0015t0001 a0009c0017t0002	a0001c0023t0003g0302 a0001c0037t0003g0003 a0004c0057t0003g0017 others(3): Show a0001c0023t0003g0302 a0001c0037t0003g0003 a0004c0057t0003g0017 a0008c0015t0001g0058 a0009c0017t0002g0307 a0009c0017t0002g0308	6	284	0.0211	32	c.298 others(47): Show c.298-374_298-373insGGTTGGTTGGTTGGTTGGTTCGTTGGTTGG TT	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	3/38			chr6	TogoVar
LAMA4_chr6_112102931_112259567	112241140	T T	TATATATA others(25): Show TATATATATGAATATATATATGAATATATATGA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA19062.hp1 NA19064.hp1 NA18948.hp2 NA19062.hp1 NA19064.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0005c0008 a0001c0001 a0001c0005 a0005c0008	a0001c0001t0001 a0001c0005t0001 a0005c0008t0001 a0001c0001t0001 a0001c0005t0001 a0005c0008t0001	a0001c0001t0001g0246 a0001c0005t0001g0247 a0005c0008t0001g0248 a0001c0001t0001g0246 a0001c0005t0001g0247 a0005c0008t0001g0248	3	188	0.0160	32	c.195 others(51): Show c.195+12784_195+12815dupTCATATATATTCATATATATATTCAT ATATAT	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	2/38			chr6	TogoVar
LAMA4_chr6_112102931_112259567	112241140	T T	TATATATA others(25): Show TATATATATGAATATATATGAATATATATATGA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03195.hp2 NA20300.hp1 HG03017.hp2 HG03195.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0023 a0002c0003 a0001c0002 a0001c0023 a0002c0003	a0001c0002t0001 a0001c0023t0003 a0002c0003t0002 a0001c0002t0001 a0001c0023t0003 a0002c0003t0002	a0001c0002t0001g0197 a0001c0023t0003g0302 a0002c0003t0002g0198 a0001c0002t0001g0197 a0001c0023t0003g0302 a0002c0003t0002g0198	3	188	0.0160	32	c.195 others(51): Show c.195+12815_195+12816insTCATATATATATTCATATATATTCAT ATATAT	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	2/38			chr6	TogoVar
LAMA4_chr6_112102931_112259567	112241148	T T	TGAATATA others(25): Show TGAATATATATATGAATATATATGAATATATAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	312	0.0032	32	c.195 others(51): Show c.195+12807_195+12808insCTATATATTCATATATATTCATATAT ATATTC	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	2/38			chr6	TogoVar
LAMA4_chr6_112102931_112259567	112241152	T T	TATATATG others(25): Show TATATATGAATATATATATTTATATATATATTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG01175.hp2 others(2): Show HG00642.hp2 HG01081.hp1 HG01175.hp2 HG02698.hp1 HG02738.hp1	a0001 a0005 a0010 a0001 a0005 a0010	a0001c0001 a0005c0008 a0010c0029 a0001c0001 a0005c0008 a0010c0029	a0001c0001t0001 a0005c0008t0001 a0005c0008t0004 others(1): Show a0001c0001t0001 a0005c0008t0001 a0005c0008t0004 a0010c0029t0001	a0001c0001t0001g0033 a0005c0008t0001g0026 a0005c0008t0004g0040 others(2): Show a0001c0001t0001g0033 a0005c0008t0001g0026 a0005c0008t0004g0040 a0010c0029t0001g0025 a0010c0029t0001g0034	5	262	0.0191	32	c.195 others(51): Show c.195+12803_195+12804insGAATATATATATAAATATATATATTC ATATAT	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	2/38			chr6	TogoVar
LAMA4_chr6_112102931_112259567	112241162	A A	AATATATA others(25): Show AATATATATGAATATATAGGAATATATATGAAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0025 a0003c0025	a0003c0025t0001 a0003c0025t0001	a0003c0025t0001g0086 a0003c0025t0001g0086	1	311	0.0032	32	c.195 others(51): Show c.195+12793_195+12794insATTCATATATATTCCTATATATTCAT ATATAT	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	2/38			chr6	TogoVar
LAMA5_chr20_62304065_62372312	62318329	C C	CGAGGGAG others(25): Show CGAGGGAGGGGAGGACGGAGGGAGGGGAGGACG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0170 a0009c0015t0001g0170	1	178	0.0056	32	c.723 others(48): Show c.7239+93_7239+124dupCGTCCTCCCCTCCCTCCGTCCTCCCCTCC CTC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	53/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62334753	C C	CAGGGCTC others(25): Show CAGGGCTCAGGGCTCAGGGCGAGGGCGAGGGCG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02257.hp2 HG02280.hp1 others(1): Show HG00741.hp1 HG02257.hp2 HG02280.hp1 HG03239.hp2	a0002 a0018 a0064 a0002 a0018 a0064	a0002c0124 a0018c0020 a0064c0122 a0002c0124 a0018c0020 a0064c0122	a0002c0124t0001 a0018c0020t0001 a0064c0122t0001 a0002c0124t0001 a0018c0020t0001 a0064c0122t0001	a0002c0124t0001g0025 a0018c0020t0001g0149 a0018c0020t0001g0151 others(1): Show a0002c0124t0001g0025 a0018c0020t0001g0149 a0018c0020t0001g0151 a0064c0122t0001g0023	4	43	0.0930	32	c.248 others(49): Show c.2483-133_2483-132insCGCCCTCGCCCTCGCCCTGAGCCCTGAG CCCT	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	20/79			chr20	TogoVar
LAMC1_chr1_183018420_183150592	183077776	G G	GTGTGTGT others(25): Show GTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02738.hp2 NA18962.hp2 others(2): Show HG02148.hp2 HG02738.hp2 NA18962.hp2 NA18991.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0015 a0001c0002t0002 a0001c0002t0015	a0001c0002t0002g0028 a0001c0002t0002g0033 a0001c0002t0002g0036 others(2): Show a0001c0002t0002g0028 a0001c0002t0002g0033 a0001c0002t0002g0036 a0001c0002t0002g0099 a0001c0002t0015g0041	5	133	0.0376	32	c.419 others(51): Show c.419-25551_419-25550insGTGTGTGTATATATATATATATATAT ATATAT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAMC1_chr1_183018420_183150592	183077776	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0057 a0001c0002t0002g0057	1	129	0.0078	32	c.419 others(51): Show c.419-25551_419-25550insGTGTGTGTGTGTGTATATATATATAT ATATAT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAMC1_chr1_183018420_183150592	183150043	C C	CTCCTCCT others(25): Show CTCCTCCTCACACACCACACAGCTCACACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0266 a0001c0003t0003g0266	1	297	0.0034	32	c.72 others(43): Show c.7253_*7254insTCCTCCTCACACACCACACAGCTCACACCCCT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4452		chr1	TogoVar
LAMC3_chr9_131004174_131099473	131046518	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02083.hp1 HG02015.hp1 HG02083.hp1	a0003 a0010 a0003 a0010	a0003c0021 a0010c0005 a0003c0021 a0010c0005	a0003c0021t0002 a0010c0005t0003 a0003c0021t0002 a0010c0005t0003	a0003c0021t0002g0157 a0010c0005t0003g0161 a0003c0021t0002g0157 a0010c0005t0003g0161	2	66	0.0303	32	c.151 others(49): Show c.1519+884_1519+885insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMP5_chr20_9509590_9535524	9517621	A A	ATGTGTGT others(25): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp1 HG01106.hp1 others(31): Show HG00423.hp2 HG00621.hp1 HG01106.hp1 HG01109.hp2 HG01255.hp2 HG01257.hp2 HG01346.hp1 HG01361.hp1 HG01993.hp1 HG02004.hp1 HG02040.hp2 HG02080.hp1 HG02132.hp2 HG02155.hp2 HG02300.hp1 HG02451.hp2 HG02602.hp1 HG02896.hp2 HG02897.hp2 HG03453.hp2 NA18944.hp2 NA18946.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18970.hp1 NA18975.hp1 NA18983.hp2 NA19012.hp1 NA19070.hp1 NA19081.hp1 NA19084.hp2 NA20129.hp2 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009	a0002c0002t0001g0014 a0002c0002t0001g0066 a0002c0002t0001g0067 others(24): Show a0002c0002t0001g0014 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0267 a0002c0002t0001g0301 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0259 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0009g0273	34	317	0.1073	32	c.476 others(47): Show c.476-404_476-403insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	LAMP5	ENSG00000125869.10	transcript	ENST00000246070.3	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
LAP3_chr4_17572198_17612970	17577191	C C	CGCACGCG others(25): Show CGCACGCGCACACGAATGCGGGCGCACACGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	8	0.1250	32	c.-27 others(41): Show c.-275_-274insGCACGCGCACACGAATGCGGGCGCACACGAAT	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding		6		chr4	TogoVar
LAP3_chr4_17572198_17612970	17577191	C C	CGCGGGCG others(25): Show CGCGGGCGCACACGAATGCGGGCGCACACGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00423.hp1 others(23): Show HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00673.hp1 HG00738.hp2 HG01169.hp2 HG01255.hp1 HG01516.hp1 HG02055.hp2 HG02132.hp2 HG02698.hp2 HG02886.hp1 HG03486.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18946.hp2 NA19001.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0002t0002g0002 others(13): Show a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0030 a0001c0002t0002g0032 a0001c0002t0002g0145 a0001c0002t0002g0175 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0188 a0001c0002t0002g0192 a0001c0002t0002g0194	26	33	0.7879	32	c.-27 others(41): Show c.-275_-274insGCGGGCGCACACGAATGCGGGCGCACACGAAT	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding		6		chr4	TogoVar
LAP3_chr4_17572198_17612970	17580184	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0007 a0001c0005t0003g0007	1	101	0.0099	32	c.218 others(47): Show c.218+246_218+247insATATATATATATATATATATATATATATAT GT	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
LAPTM4B_chr8_97770788_97858013	97834144	G G	GAAAAAAA others(25): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01358.hp2 HG01496.hp1 others(1): Show HG00280.hp1 HG01358.hp2 HG01496.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0002t0019	a0001c0001t0001g0136 a0001c0001t0004g0173 a0001c0001t0011g0057 others(1): Show a0001c0001t0001g0136 a0001c0001t0004g0173 a0001c0001t0011g0057 a0001c0002t0019g0164	4	199	0.0201	32	c.603 others(49): Show c.603+9005_603+9006insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LAPTM4B_chr8_97770788_97858013	97850476	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00733.hp1 HG00738.hp2 others(25): Show HG00673.hp1 HG00733.hp1 HG00738.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02135.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03486.hp2 HG03516.hp1 HG03834.hp2 NA18522.hp2 NA18612.hp1 NA18949.hp1 NA18990.hp1 NA19058.hp2 NA19067.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0005 a0001c0001t0013 a0001c0001t0022 others(2): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0022 a0001c0001t0033 a0003c0006t0005	a0001c0001t0005g0006 a0001c0001t0005g0025 a0001c0001t0005g0035 others(25): Show a0001c0001t0005g0006 a0001c0001t0005g0025 a0001c0001t0005g0035 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0049 a0001c0001t0005g0058 a0001c0001t0005g0080 a0001c0001t0005g0124 a0001c0001t0005g0131 a0001c0001t0005g0135 a0001c0001t0005g0145 a0001c0001t0005g0150 a0001c0001t0005g0157 a0001c0001t0005g0160 a0001c0001t0005g0321 a0001c0001t0005g0335 a0001c0001t0005g0341 a0001c0001t0005g0361 a0001c0001t0013g0113 a0001c0001t0022g0048 a0001c0001t0022g0132 a0001c0001t0033g0047 a0003c0006t0005g0034	28	278	0.1007	32	c.604 others(47): Show c.604-908_604-907insGTATGTGTGTGTGTGTGTATGTGTGTGTGT GT	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LARGE1_chr22_33267509_33925476	33291579	G G	GAATACAT others(25): Show GAATACATTAATGCATAATGTATTCATTACATT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0015 a0001c0003t0009g0015	1	108	0.0093	32	c.173 others(51): Show c.1731-8263_1731-8232dupAATGTAATGAATACATTATGCATTAA TGTATT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	12/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33361724	C C	CAGAGTCC others(25): Show CAGAGTCCCTCCTCTTTAGAGTCCCTCCTCTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02559.hp2 HG02970.hp1 others(1): Show HG01099.hp2 HG02559.hp2 HG02970.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0019	a0001c0001t0005 a0001c0002t0022 a0001c0004t0005 others(1): Show a0001c0001t0005 a0001c0002t0022 a0001c0004t0005 a0001c0019t0003	a0001c0001t0005g0023 a0001c0002t0022g0103 a0001c0004t0005g0026 others(1): Show a0001c0001t0005g0023 a0001c0002t0022g0103 a0001c0004t0005g0026 a0001c0019t0003g0025	4	63	0.0635	32	c.113 others(53): Show c.1131+20163_1131+20194dupAAAGAGGAGGGACTCTAAAGAGGA GGGACTCT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	9/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33416906	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02886.hp2 HG02809.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0045 a0001c0001t0006g0007 a0001c0001t0004g0045 a0001c0001t0006g0007	2	18	0.1111	32	c.892 others(51): Show c.892+15254_892+15255insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	7/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33784989	G G	GTATGTGT others(25): Show GTATGTGTATATACATATATGTGTATACATACA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	108	0.0093	32	c.-82 others(51): Show c.-82-23432_-82-23431insTGTATGTATACACATATATGTATATA CACATA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33785096	C C	CATGTGTA others(25): Show CATGTGTATACATACATATGTGTATATACATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03516.hp1 HG03098.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0009 a0001c0001t0007 a0001c0003t0009	a0001c0001t0007g0046 a0001c0003t0009g0016 a0001c0001t0007g0046 a0001c0003t0009g0016	2	105	0.0190	32	c.-82 others(51): Show c.-82-23539_-82-23538insATATGTATATACACATATGTATGTAT ACACAT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33785181	G G	GTATATAC others(25): Show GTATATACATATATGTGTATACATACATATGTA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	104	0.0096	32	c.-82 others(51): Show c.-82-23624_-82-23623insTACATATGTATGTATACACATATATG TATATA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14			chr22	TogoVar
LARP1B_chr4_128056312_128216988	128098747	G G	GTGTGTAT others(25): Show GTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02040.hp2 HG02738.hp2 others(6): Show HG01071.hp2 HG02040.hp2 HG02738.hp2 NA18945.hp1 NA18964.hp1 NA18991.hp2 NA19012.hp1 NA19057.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0148 a0001c0001t0001g0150 others(6): Show a0001c0001t0001g0110 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0169 a0001c0001t0001g0186 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0263 a0001c0001t0001g0274	9	167	0.0539	32	c.813 others(47): Show c.813+418_813+419insGTGTATATATATATATATATATATATATAT AT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128098747	G G	GTGTGTGT others(25): Show GTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG04199.hp2 HG00642.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0270 a0001c0001t0001g0155 a0001c0001t0001g0270	2	160	0.0125	32	c.813 others(47): Show c.813+418_813+419insGTGTGTATATATATATATATATATATATAT AT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128098747	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	159	0.0063	32	c.813 others(47): Show c.813+418_813+419insGTGTGTGTGTATATATATATATATATATAT AT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1_chr5_154750377_154822605	154757780	T T	TCCTTCCC others(25): Show TCCTTCCCCCCTGCTCCCCTTCCCCCCTGCTCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18522.hp1 HG02486.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0025 a0001c0001t0006g0131 a0001c0001t0001g0025 a0001c0001t0006g0131	2	234	0.0085	32	c.436 others(49): Show c.436+1647_436+1678dupGCTCCCCTTCCCCCCTGCTCCCCTTCCC CCCT	LARP1	ENSG00000155506.19	transcript	ENST00000518297.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
LARP4B_chr10_804497_936705	924562	A A	ACTCTCCA others(25): Show ACTCTCCACCTACCTCCCAGCCGCGTTCTCTTC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	286	0.0035	32	c.-40 others(49): Show c.-40+6834_-40+6865dupGAAGAGAACGCGGCTGGGAGGTAGGTGG AGAG	LARP4B	ENSG00000107929.16	transcript	ENST00000316157.8	protein_coding	1/17			chr10	TogoVar
LARP4_chr12_50395885_50485004	50446366	T T	TCCCCCCC others(25): Show TCCCCCCCCCTCCCCCTCCCCCTCCCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	282	0.0035	32	c.804 others(49): Show c.804+4724_804+4725insCCCCCCCCTCCCCCTCCCCCTCCCCCTT CCCC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446370	T T	TCCCCCCC others(25): Show TCCCCCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	288	0.0035	32	c.804 others(49): Show c.804+4728_804+4729insCCCCCCCCTTCCCCTCCCCCTCCCCCTC TCCC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARS1_chr5_146108034_146187650	146174523	T T	TATATATA others(25): Show TATATATATATATATCCATATATGTATATATCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp1 HG02572.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0160 a0001c0001t0004g0161	2	249	0.0080	32	c.126 others(49): Show c.126-1781_126-1750dupGGATATATACATATATGGATATATATAT ATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LARS2_chr3_45383576_45554407	45484630	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18966.hp1 NA18972.hp2 HG02055.hp2 NA18966.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0070 a0001c0001t0001g0097 a0001c0001t0007g0100 a0001c0001t0001g0070 a0001c0001t0001g0097 a0001c0001t0007g0100	3	19	0.1579	32	c.101 others(51): Show c.1019-1061_1019-1060insAATATATATATATATATATATATATA TATATA	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
LAS1L_chrX_65507582_65539787	65525748	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	127	0.0079	32	c.957 others(47): Show c.957-699_957-698insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	LAS1L	ENSG00000001497.18	transcript	ENST00000374811.8	protein_coding	7/13			chrX	TogoVar
LASP1_chr17_38865058_38926770	38875071	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02818.hp1 HG01109.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0028 a0001c0001t0027 a0001c0001t0028	a0001c0001t0027g0095 a0001c0001t0028g0178 a0001c0001t0027g0095 a0001c0001t0028g0178	2	356	0.0056	32	c.70- others(47): Show c.70-2997_70-2996insTGTGTGTGTGTGTATGTGTGTGTGTGTGTG TG	LASP1	ENSG00000002834.19	transcript	ENST00000318008.11	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
LATS2_chr13_20968036_21066586	21007632	A A	ATATATAT others(25): Show ATATATATATAGTGTGTATATATATATATAGTG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0009 a0003c0008t0009	a0003c0008t0009g0294 a0003c0008t0009g0294	1	273	0.0037	32	c.343 others(51): Show c.343-16229_343-16228insCACTATATATATATATACACACTATA TATATA	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LATS2_chr13_20968036_21066586	21007693	A A	ATAGTGTA others(25): Show ATAGTGTATATATATATATATATATATATAGTG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	309	0.0032	32	c.343 others(51): Show c.343-16290_343-16289insCACTATATATATATATATATATATAT ACACTA	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LATS2_chr13_20968036_21066586	21050125	C C	CAGACAGA others(25): Show CAGACAGATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG02145.hp1 HG02258.hp2	a0003 a0004 a0003 a0004	a0003c0008 a0004c0004 a0003c0008 a0004c0004	a0003c0008t0008 a0004c0004t0019 a0003c0008t0008 a0004c0004t0019	a0003c0008t0008g0289 a0004c0004t0019g0290 a0003c0008t0008g0289 a0004c0004t0019g0290	2	286	0.0070	32	c.-20 others(51): Show c.-204-3896_-204-3895insATCTATCTATCTATCTATCTATCTAT CTGTCT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	1/7			chr13	TogoVar
LATS2_chr13_20968036_21066586	21050147	G G	GATAGATA others(25): Show GATAGATACATACATACATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0032 a0003c0032	a0003c0032t0016 a0003c0032t0016	a0003c0032t0016g0313 a0003c0032t0016g0313	1	55	0.0182	32	c.-20 others(51): Show c.-204-3918_-204-3917insGTATGTATGTATGTATGTATGTATGT ATCTAT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	1/7			chr13	TogoVar
LATS2_chr13_20968036_21066586	21050147	G G	GATAGATA others(25): Show GATAGATAGATAGATACATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	55	0.0182	32	c.-20 others(51): Show c.-204-3918_-204-3917insGTATGTATGTATGTATGTATCTATCT ATCTAT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	1/7			chr13	TogoVar
LATS2_chr13_20968036_21066586	21050147	G G	GATAGATA others(25): Show GATAGATAGATAGATAGATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	55	0.0182	32	c.-20 others(51): Show c.-204-3918_-204-3917insGTATGTATGTATGTATCTATCTATCT ATCTAT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	1/7			chr13	TogoVar
LATS2_chr13_20968036_21066586	21050147	G G	GATAGATA others(25): Show GATAGATAGATAGATAGATAGATACATACATAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0096 a0002c0002t0003g0096	1	55	0.0182	32	c.-20 others(51): Show c.-204-3918_-204-3917insGTATGTATGTATCTATCTATCTATCT ATCTAT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	1/7			chr13	TogoVar
LAX1_chr1_203760183_203781372	203770454	A A	AGAGAGAG others(25): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	378	0.0026	32	c.90- others(45): Show c.90-374_90-373insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG	LAX1	ENSG00000122188.13	transcript	ENST00000442561.7	protein_coding	1/4			chr1	TogoVar
LCA5L_chr21_39400728_39450778	39428598	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19006.hp2 NA20752.hp2 NA19001.hp2 NA19006.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0110 a0001c0001t0001g0151 a0001c0001t0001g0065 a0001c0001t0001g0110 a0001c0001t0001g0151	3	225	0.0133	32	c.-10 others(45): Show c.-10-96_-10-95insAATATATATATATATATATATATATATATATA	LCA5L	ENSG00000157578.14	transcript	ENST00000288350.8	protein_coding	4/10			chr21	TogoVar
LCE1A_chr1_152822473_152833097	152825347	G G	GTGTGTAT others(25): Show GTGTGTATATACATATATATGTACATACATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG03139.hp2 HG03490.hp2 others(1): Show HG02970.hp2 HG03139.hp2 HG03490.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	412	0.0097	32	c.-21 others(43): Show c.-2126_-2125insTGTGTATATACATATATATGTACATACATATA	LCE1A	ENSG00000186844.6	transcript	ENST00000335123.4	protein_coding		2125		chr1	TogoVar

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