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
LMOD3_chr3_69101065_69127595	69110853	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18945.hp2 HG03130.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0075 a0001c0001t0014g0074 a0001c0001t0003g0075 a0001c0001t0014g0074	2	428	0.0047	28	c.165 others(47): Show c.1657-1733_1657-1732insATATATATATATATTTTTTTTTTTTT TT	LMOD3	ENSG00000163380.16	transcript	ENST00000420581.7	protein_coding	2/2			chr3	TogoVar
LMOD3_chr3_69101065_69127595	69110853	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0350 a0001c0002t0041g0350	1	428	0.0023	28	c.165 others(47): Show c.1657-1733_1657-1732insATATATATATATATATATATATATTT TT	LMOD3	ENSG00000163380.16	transcript	ENST00000420581.7	protein_coding	2/2			chr3	TogoVar
LMTK2_chr7_98101862_98214638	98140139	T T	TGTCTGTC others(21): Show TGTCTGTCTGTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	390	0.0026	28	c.232 others(45): Show c.232-1258_232-1257insGTCTGTCTGTCCTTCCTTCCTTCCTTCC	LMTK2	ENSG00000164715.6	transcript	ENST00000297293.6	protein_coding	2/13			chr7	TogoVar
LMTK2_chr7_98101862_98214638	98140143	T T	TGTCTGTC others(21): Show TGTCTGTCTGTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	390	0.0026	28	c.232 others(45): Show c.232-1254_232-1253insGTCTGTCTGTCCTTCCTTCCTTCCTTCC	LMTK2	ENSG00000164715.6	transcript	ENST00000297293.6	protein_coding	2/13			chr7	TogoVar
LMX1A_chr1_165196867_165361715	165337888	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG03579.hp1 HG01891.hp1 HG02055.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0003t0004 a0001c0006t0003 a0001c0001t0001 a0001c0003t0004 a0001c0006t0003	a0001c0001t0001g0041 a0001c0003t0004g0033 a0001c0006t0003g0169 a0001c0001t0001g0041 a0001c0003t0004g0033 a0001c0006t0003g0169	3	288	0.0104	28	c.263 others(47): Show c.263+15187_263+15188insCACACACACACACACACACACACACA CA	LMX1A	ENSG00000162761.14	transcript	ENST00000342310.7	protein_coding	3/8			chr1	TogoVar
LNPK_chr2_175918882_176007267	175951584	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02976.hp1 HG03098.hp1 others(8): Show HG02602.hp2 HG02976.hp1 HG03098.hp1 HG03209.hp1 HG03688.hp2 HG03710.hp2 HG04228.hp1 NA18950.hp2 NA18961.hp1 NA18993.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 others(6): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0034 a0001c0001t0052 a0001c0001t0062	a0001c0001t0005g0097 a0001c0001t0006g0168 a0001c0001t0006g0169 others(8): Show a0001c0001t0005g0097 a0001c0001t0006g0168 a0001c0001t0006g0169 a0001c0001t0010g0162 a0001c0001t0013g0127 a0001c0001t0014g0350 a0001c0001t0017g0147 a0001c0001t0017g0151 a0001c0001t0034g0160 a0001c0001t0052g0179 a0001c0001t0062g0193	11	368	0.0299	28	c.494 others(45): Show c.494-3893_494-3892insATATATATATATATATATATATATATAT	LNPK	ENSG00000144320.14	transcript	ENST00000272748.9	protein_coding	8/12			chr2	TogoVar
LNPK_chr2_175918882_176007267	175951607	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0135 a0001c0001t0063g0135	1	368	0.0027	28	c.494 others(45): Show c.494-3916_494-3915insGATATATATATATATATATATATATATA	LNPK	ENSG00000144320.14	transcript	ENST00000272748.9	protein_coding	8/12			chr2	TogoVar
LNX1_chr4_53454301_53596486	53492506	T T	TGAGAGAG others(21): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01243.hp2 HG01496.hp2 others(4): Show HG00597.hp2 HG01243.hp2 HG01496.hp2 NA18951.hp2 NA18966.hp2 NA19062.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0106 a0001c0001t0001g0128 a0001c0001t0001g0178 others(4): Show a0001c0001t0001g0106 a0001c0001t0001g0128 a0001c0001t0001g0178 a0001c0001t0001g0188 a0001c0001t0001g0249 a0001c0001t0001g0261 a0002c0005t0001g0258	7	356	0.0197	28	c.135 others(47): Show c.1350+3489_1350+3516dupTCTCTCTCTCTCTCTCTCTCTCTCTC TC	LNX1	ENSG00000072201.14	transcript	ENST00000263925.8	protein_coding	6/10			chr4	TogoVar
LNX1_chr4_53454301_53596486	53495548	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0164 a0001c0001t0004g0164	1	356	0.0028	28	c.135 others(45): Show c.1350+474_1350+475insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	LNX1	ENSG00000072201.14	transcript	ENST00000263925.8	protein_coding	6/10			chr4	TogoVar
LNX2_chr13_27540913_27625529	27560565	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01167.hp1 HG01167.hp2 others(2): Show HG00621.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012	a0001c0001t0002g0253 a0001c0001t0002g0259 a0001c0001t0002g0262 others(2): Show a0001c0001t0002g0253 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0005g0046 a0001c0001t0012g0021	5	358	0.0140	28	c.122 others(45): Show c.1225-581_1225-580insTATATATATATATATATATATATATATA	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	5/9			chr13	TogoVar
LNX2_chr13_27540913_27625529	27560565	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	358	0.0028	28	c.122 others(45): Show c.1225-581_1225-580insTATATATATATATATATATATATATACA	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	5/9			chr13	TogoVar
LNX2_chr13_27540913_27625529	27583255	T T	TGCGCGCG others(21): Show TGCGCGCGCGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0126 a0002c0002t0001g0126	1	358	0.0028	28	c.-10 others(47): Show c.-100-1453_-100-1452insGCGCGCGCGCGCGCGCGCGCGCGCGC GC	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	1/9			chr13	TogoVar
LNX2_chr13_27540913_27625529	27583255	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0124	1	358	0.0028	28	c.-10 others(47): Show c.-100-1453_-100-1452insGCGCACACACACACACACACACACAC AC	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	1/9			chr13	TogoVar
LOC114841035_chr11_64236095_64249132	64245648	C C	CCCCACCT others(21): Show CCCCACCTGTCAGCTGTCAGCTTATCATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	330	0.0030	28	c.21 others(39): Show c.2188_*2189insCCCACCTGTCAGCTGTCAGCTTATCATA	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		1517		chr11	TogoVar
LOC122539214_chr19_52645447_52695496	52683528	A A	ACCCTTGA others(21): Show ACCCTTGACGCTGAGCGCATCACCTACTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0012 a0007c0006t0012	a0007c0006t0012g0039 a0007c0006t0012g0039	1	452	0.0022	28	c.-20 others(45): Show c.-20+6914_-20+6915insCAGTAGGTGATGCGCTCAGCGTCAAGGG	LOC122539214	ENSG00000269825.3	transcript	ENST00000598322.3	protein_coding	1/3			chr19	TogoVar
LOC127933115_chrX_23778278_23788367	23780502	A A	ATATATAT others(21): Show ATATATATATATATAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	334	0.0030	28	c.-27 others(39): Show c.-2776_-2775insTATATATATATATAATATATATATATAT	LOC127933115	ENSG00000288706.1	transcript	ENST00000683890.1	protein_coding		2775		chrX	TogoVar
LOC128031832_chr1_31914563_31924628	31916345	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	402	0.0025	28	c.32 others(39): Show c.3217_*3218insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	LOC128031832	ENSG00000288678.2	transcript	ENST00000679970.1	protein_coding		3217		chr1	TogoVar
LOC128462377_chr16_89312046_89423292	89381354	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	366	0.0027	28	c.9+3 others(43): Show c.9+36929_9+36930insCTTTTTTTTTTTTTTTTTTTTTTTTTTT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89384879	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	366	0.0027	28	c.9+3 others(43): Show c.9+33377_9+33404dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89409829	A A	AATTTATT others(21): Show AATTTATTTATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02723.hp2 HG02896.hp1 others(1): Show HG02109.hp2 HG02723.hp2 HG02896.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0362 a0001c0001t0001g0363 others(1): Show a0001c0001t0001g0044 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0366	4	366	0.0109	28	c.9+8 others(41): Show c.9+8454_9+8455insAAATAAATAAATAAATAAATAAATAAAT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89415829	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01517.hp1 others(4): Show HG01167.hp2 HG01169.hp1 HG01517.hp1 NA18612.hp2 NA19066.hp2 NA19076.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0178 a0001c0001t0001g0179 others(4): Show a0001c0001t0001g0014 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0222 a0001c0001t0001g0223	7	366	0.0191	28	c.9+2 others(41): Show c.9+2454_9+2455insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC93622_chr4_6669075_6681047	6678064	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01891.hp1 HG02015.hp1 others(4): Show HG00673.hp2 HG01891.hp1 HG02015.hp1 HG02135.hp2 NA18998.hp2 NA19081.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0030 a0001c0001t0004 a0001c0001t0008 a0001c0001t0030	a0001c0001t0004g0000 a0001c0001t0008g0000 a0001c0001t0030g0000 a0001c0001t0004g0000 a0001c0001t0008g0000 a0001c0001t0030g0000	7	462	0.0152	28	c.34 others(39): Show c.3492_*3493insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	LOC93622	ENSG00000170846.17	transcript	ENST00000635031.2	protein_coding		2018		chr4	TogoVar
LONP1_chr19_5686834_5725146	5716259	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18947.hp2 HG02257.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0078 a0001c0001t0002g0079	2	386	0.0052	28	c.430 others(45): Show c.430-2016_430-1989dupATATATATATATATATATATATATATAT	LONP1	ENSG00000196365.12	transcript	ENST00000360614.8	protein_coding	1/17			chr19	TogoVar
LONRF2_chr2_100266875_100327501	100316349	T T	TTTCTAAT others(21): Show TTTCTAATAATTATTAGAAATTCTAATAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01516.hp2 HG02055.hp1 others(30): Show HG01243.hp1 HG01516.hp2 HG02055.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA19030.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0002 a0010 a0012 a0002 a0010 a0012	a0002c0001 a0002c0013 a0002c0018 others(2): Show a0002c0001 a0002c0013 a0002c0018 a0010c0024 a0012c0021	a0002c0001t0006 a0002c0001t0018 a0002c0001t0019 others(15): Show a0002c0001t0006 a0002c0001t0018 a0002c0001t0019 a0002c0001t0032 a0002c0001t0033 a0002c0001t0042 a0002c0001t0043 a0002c0001t0055 a0002c0001t0083 a0002c0001t0084 a0002c0001t0096 a0002c0001t0101 a0002c0001t0102 a0002c0001t0103 a0002c0013t0097 a0002c0018t0037 a0010c0024t0006 a0012c0021t0085	a0002c0001t0006g0014 a0002c0001t0006g0048 a0002c0001t0006g0050 others(27): Show a0002c0001t0006g0014 a0002c0001t0006g0048 a0002c0001t0006g0050 a0002c0001t0006g0063 a0002c0001t0006g0067 a0002c0001t0006g0070 a0002c0001t0006g0071 a0002c0001t0018g0024 a0002c0001t0018g0047 a0002c0001t0019g0064 a0002c0001t0019g0069 a0002c0001t0019g0072 a0002c0001t0019g0171 a0002c0001t0032g0061 a0002c0001t0032g0062 a0002c0001t0033g0055 a0002c0001t0033g0056 a0002c0001t0042g0074 a0002c0001t0043g0073 a0002c0001t0055g0059 a0002c0001t0083g0053 a0002c0001t0084g0054 a0002c0001t0096g0085 a0002c0001t0101g0052 a0002c0001t0102g0068 a0002c0001t0103g0065 a0002c0013t0097g0057 a0002c0018t0037g0058 a0010c0024t0006g0066 a0012c0021t0085g0060	33	368	0.0897	28	c.679 others(45): Show c.679+5038_679+5065dupTTATTAGAATTTCTAATAATTATTAGAA	LONRF2	ENSG00000170500.13	transcript	ENST00000393437.8	protein_coding	1/11			chr2	TogoVar
LONRF2_chr2_100266875_100327501	100316368	A A	ATTCTAAT others(21): Show ATTCTAATAATTCTAATAATTATTAGAAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02055.hp2 HG02280.hp2 others(7): Show HG01261.hp1 HG02055.hp2 HG02280.hp2 HG02559.hp2 HG02622.hp1 HG02723.hp2 HG03139.hp1 HG03486.hp2 NA19240.hp1 NA20300.hp2	a0002 a0002	a0002c0001 a0002c0012 a0002c0001 a0002c0012	a0002c0001t0012 a0002c0001t0031 a0002c0001t0076 others(4): Show a0002c0001t0012 a0002c0001t0031 a0002c0001t0076 a0002c0001t0077 a0002c0001t0095 a0002c0012t0035 a0002c0012t0088	a0002c0001t0012g0025 a0002c0001t0031g0026 a0002c0001t0076g0078 others(5): Show a0002c0001t0012g0025 a0002c0001t0031g0026 a0002c0001t0076g0078 a0002c0001t0077g0079 a0002c0001t0095g0051 a0002c0012t0035g0075 a0002c0012t0035g0076 a0002c0012t0088g0077	10	368	0.0272	28	c.679 others(45): Show c.679+5046_679+5047insATTCTAATAATTATTAGAATTATTAGAA	LONRF2	ENSG00000170500.13	transcript	ENST00000393437.8	protein_coding	1/11			chr2	TogoVar
LORICRIN_chr1_153254687_153267124	153256740	T T	TAGTTATA others(21): Show TAGTTATATATGTATGTAAAACTATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 NA20905.hp2 HG00639.hp1 NA20905.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	2	422	0.0047	28	c.-30 others(39): Show c.-3017_-3016insAGTTATATATGTATGTAAAACTATATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2946		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256768	C C	TAGTTATG others(21): Show TAGTTATGTATGTATGTAAAACTATATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	422	0.0024	28	c.-29 others(39): Show c.-2990_-2989insTAGTTATGTATGTATGTAAAACTATATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2919		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256795	A A	ACAGTTAT others(21): Show ACAGTTATGTATGTATGTAAAACTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01071.hp1 others(26): Show HG00642.hp1 HG00741.hp2 HG01071.hp1 HG01175.hp2 HG01255.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG02523.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18970.hp2 NA18975.hp1 NA18980.hp1 NA18985.hp1 NA19000.hp2 NA19006.hp2 NA19067.hp2 NA19077.hp2 NA19085.hp1 NA20300.hp1	a0002 a0008 a0013 a0002 a0008 a0013	a0002c0002 a0002c0005 a0008c0010 others(1): Show a0002c0002 a0002c0005 a0008c0010 a0013c0015	a0002c0002t0001 a0002c0005t0001 a0002c0005t0006 others(2): Show a0002c0002t0001 a0002c0005t0001 a0002c0005t0006 a0008c0010t0001 a0013c0015t0001	a0002c0002t0001g0001 a0002c0005t0001g0001 a0002c0005t0006g0001 others(2): Show a0002c0002t0001g0001 a0002c0005t0001g0001 a0002c0005t0006g0001 a0008c0010t0001g0001 a0013c0015t0001g0001	29	422	0.0687	28	c.-29 others(39): Show c.-2962_-2961insCAGTTATGTATGTATGTAAAACTATATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2891		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256873	C C	CTATATAC others(21): Show CTATATACAGTTATGTATGTATGTAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	28	c.-28 others(39): Show c.-2884_-2883insTATATACAGTTATGTATGTATGTAAAAG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2813		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256915	G G	GTATGTAT others(21): Show GTATGTATGTAAAACTATATACAGTTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02717.hp1 HG02886.hp1 others(1): Show HG02630.hp2 HG02717.hp1 HG02886.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0003 a0001c0001t0001g0011	4	422	0.0095	28	c.-28 others(39): Show c.-2842_-2841insTATGTATGTAAAACTATATACAGTTATA	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2771		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256964	C C	CAGTTATG others(21): Show CAGTTATGTATGTATGTAAAACTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG01934.hp2 others(11): Show HG01243.hp1 HG01884.hp2 HG01934.hp2 HG02055.hp2 HG02145.hp2 HG02486.hp2 HG02809.hp1 HG02976.hp1 HG03471.hp1 HG03486.hp2 NA18522.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp1	a0002 a0003 a0002 a0003	a0002c0005 a0003c0003 a0002c0005 a0003c0003	a0002c0005t0001 a0003c0003t0001 a0002c0005t0001 a0003c0003t0001	a0002c0005t0001g0001 a0002c0005t0001g0012 a0003c0003t0001g0007 a0002c0005t0001g0001 a0002c0005t0001g0012 a0003c0003t0001g0007	14	422	0.0332	28	c.-27 others(39): Show c.-2793_-2792insAGTTATGTATGTATGTAAAACTATATAT	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2722		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256972	T T	TATGTATG others(21): Show TATGTATGTAAAACTATATATAGTTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	422	0.0024	28	c.-27 others(39): Show c.-2785_-2784insATGTATGTAAAACTATATATAGTTATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2714		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256985	C C	CTATATAT others(21): Show CTATATATAGTTATATATGTATATAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00738.hp1 others(23): Show HG00099.hp1 HG00639.hp1 HG00738.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01257.hp2 HG01258.hp2 HG01884.hp1 HG02145.hp1 HG02615.hp2 HG02622.hp1 HG02809.hp2 HG02965.hp2 HG03195.hp1 HG03831.hp1 NA18951.hp2 NA18978.hp1 NA19001.hp2 NA19003.hp2 NA19060.hp2 NA19074.hp1 NA19083.hp1 NA19091.hp1 NA20805.hp2 NA20905.hp2	a0004 a0006 a0004 a0006	a0004c0004 a0006c0011 a0004c0004 a0006c0011	a0004c0004t0001 a0006c0011t0001 a0004c0004t0001 a0006c0011t0001	a0004c0004t0001g0001 a0006c0011t0001g0005 a0004c0004t0001g0001 a0006c0011t0001g0005	26	422	0.0616	28	c.-27 others(39): Show c.-2772_-2771insTATATATAGTTATATATGTATATAAAAA	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2701		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256985	C C	CTATATAT others(21): Show CTATATATAGTTATATATGTATGTAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG00738.hp2 others(84): Show HG00609.hp1 HG00621.hp2 HG00738.hp2 HG01109.hp1 HG01243.hp2 HG01346.hp2 HG01516.hp1 HG01975.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02698.hp2 HG02735.hp2 HG03017.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18954.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18972.hp1 NA18975.hp2 NA18976.hp1 NA18980.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19054.hp2 NA19058.hp1 NA19062.hp2 NA19068.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0012 a0013 a0002 a0012 a0013	a0002c0002 a0012c0014 a0013c0015 a0002c0002 a0012c0014 a0013c0015	a0002c0002t0001 a0002c0002t0005 a0012c0014t0001 others(1): Show a0002c0002t0001 a0002c0002t0005 a0012c0014t0001 a0013c0015t0001	a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0005g0001 others(2): Show a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0005g0001 a0012c0014t0001g0001 a0013c0015t0001g0001	87	422	0.2062	28	c.-27 others(39): Show c.-2772_-2771insTATATATAGTTATATATGTATGTAAAAA	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2701		chr1	TogoVar
LOXHD1_chr18_46472273_46662220	46545627	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0001 a0008c0006t0001	a0008c0006t0001g0256 a0008c0006t0001g0256	1	270	0.0037	28	c.351 others(45): Show c.3515-207_3515-206insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	LOXHD1	ENSG00000167210.17	transcript	ENST00000642948.1	protein_coding	22/40			chr18	TogoVar
LOXHD1_chr18_46472273_46662220	46608035	G G	GGGAAGGA others(21): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG01346.hp2 others(9): Show HG00280.hp1 HG00642.hp2 HG01346.hp2 HG01515.hp2 HG01517.hp1 HG02015.hp1 HG02630.hp2 HG03098.hp2 HG03239.hp2 HG03704.hp1 HG03927.hp2 NA19054.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0014 a0016 a0023 a0037	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0014c0023 a0016c0010 a0023c0049 a0037c0073	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(4): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0014c0023t0001 a0016c0010t0002 a0023c0049t0001 a0037c0073t0001	a0001c0001t0001g0040 a0001c0001t0001g0071 a0002c0002t0001g0128 others(9): Show a0001c0001t0001g0040 a0001c0001t0001g0071 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0191 a0003c0003t0001g0051 a0003c0003t0001g0052 a0003c0003t0001g0067 a0014c0023t0001g0087 a0016c0010t0002g0013 a0023c0049t0001g0069 a0037c0073t0001g0104	12	270	0.0444	28	c.759 others(45): Show c.759+2713_759+2740dupTTCCTTCCTTCCTTCCTTCCTTCCTTCC	LOXHD1	ENSG00000167210.17	transcript	ENST00000642948.1	protein_coding	6/40			chr18	TogoVar
LOXHD1_chr18_46472273_46662220	46658521	T T	TGGGGGGG others(21): Show TGGGGGGGTGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0152 a0003c0003t0001g0152	1	270	0.0037	28	c.-14 others(39): Show c.-1489_-1488insCCCCCCCCCCCCCCCCCCCCACCCCCCC	LOXHD1	ENSG00000167210.17	transcript	ENST00000642948.1	protein_coding		1302		chr18	TogoVar
LOXL2_chr8_23291897_23409120	23328709	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02886.hp2 HG00733.hp2 HG02886.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0005 a0002c0014t0005	a0002c0014t0005g0208 a0002c0014t0005g0210 a0002c0014t0005g0208 a0002c0014t0005g0210	2	348	0.0058	28	c.967 others(43): Show c.967-172_967-145dupCACACACACACACACACACACACACACA	LOXL2	ENSG00000134013.16	transcript	ENST00000389131.8	protein_coding	5/13			chr8	TogoVar
LOXL2_chr8_23291897_23409120	23367635	G G	GCAGGGCA others(21): Show GCAGGGCATATGGGGCGGAGAGAGGAGCA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02572.hp1 HG02717.hp2 others(2): Show HG01261.hp1 HG02572.hp1 HG02717.hp2 HG03579.hp1 NA20129.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0013 a0002c0021 a0002c0031 others(1): Show a0001c0013 a0002c0021 a0002c0031 a0007c0038	a0001c0013t0001 a0002c0021t0002 a0002c0021t0018 others(2): Show a0001c0013t0001 a0002c0021t0002 a0002c0021t0018 a0002c0031t0019 a0007c0038t0001	a0001c0013t0001g0075 a0002c0021t0002g0077 a0002c0021t0018g0076 others(2): Show a0001c0013t0001g0075 a0002c0021t0002g0077 a0002c0021t0018g0076 a0002c0031t0019g0138 a0007c0038t0001g0089	5	348	0.0144	28	c.355 others(43): Show c.355+334_355+361dupTGCTCCTCTCTCCGCCCCATATGCCCTG	LOXL2	ENSG00000134013.16	transcript	ENST00000389131.8	protein_coding	2/13			chr8	TogoVar
LPA_chr6_160526482_160669275	160576394	A A	ATATATAT others(21): Show ATATATATACATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0002 a0001c0047t0002	a0001c0047t0002g0031 a0001c0047t0002g0031	1	148	0.0068	28	c.463 others(45): Show c.4631+741_4631+742insCACATATATATATATATATGTATATATA	LPA	ENSG00000198670.13	transcript	ENST00000316300.10	protein_coding	28/38			chr6	TogoVar
LPGAT1_chr1_211738457_211835763	211741435	T T	TCATAATA others(21): Show TCATAATAGTCTAACATAAAAATGTTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG01099.hp2 HG00280.hp1 HG00323.hp1 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0020 a0001c0001t0016g0263 a0001c0001t0016g0020 a0001c0001t0016g0263	3	332	0.0090	28	c.84 others(39): Show c.8463_*8464insTCTAACATTTTTATGTTAGACTATTATG	LPGAT1	ENSG00000123684.13	transcript	ENST00000366997.9	protein_coding		2021		chr1	TogoVar
LPIN2_chr18_2911999_3018144	2956311	G G	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03486.hp2 NA18955.hp2 others(3): Show HG02280.hp2 HG03486.hp2 NA18955.hp2 NA19056.hp2 NA19064.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0058 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0058 a0001c0001t0087 a0001c0001t0101	a0001c0001t0002g0294 a0001c0001t0005g0239 a0001c0001t0005g0242 others(3): Show a0001c0001t0002g0294 a0001c0001t0005g0239 a0001c0001t0005g0242 a0001c0001t0058g0043 a0001c0001t0087g0286 a0001c0001t0101g0375	6	380	0.0158	28	c.193 others(45): Show c.193-1740_193-1713dupACACACACACACACACACACACACACAC	LPIN2	ENSG00000101577.11	transcript	ENST00000677752.1	protein_coding	2/19			chr18	TogoVar
LPIN2_chr18_2911999_3018144	2958141	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG04228.hp1 NA18956.hp2 HG02074.hp2 HG04228.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0021 a0001c0001t0035 a0001c0001t0013 a0001c0001t0021 a0001c0001t0035	a0001c0001t0013g0048 a0001c0001t0021g0327 a0001c0001t0035g0337 a0001c0001t0013g0048 a0001c0001t0021g0327 a0001c0001t0035g0337	3	380	0.0079	28	c.192 others(45): Show c.192+2507_192+2508insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	LPIN2	ENSG00000101577.11	transcript	ENST00000677752.1	protein_coding	2/19			chr18	TogoVar
LPO_chr17_58233584_58273518	58254152	T T	TATAGATA others(21): Show TATAGATATATAGATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0113	1	328	0.0031	28	c.110 others(45): Show c.1106-652_1106-651insTATAGATAGATAGATAGATAGATAGATA	LPO	ENSG00000167419.11	transcript	ENST00000262290.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
LPO_chr17_58233584_58273518	58254152	T T	TATAGATA others(21): Show TATAGATATATAGATATATAGATAGATAG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	328	0.0031	28	c.110 others(45): Show c.1106-652_1106-651insTATAGATATATAGATAGATAGATAGATA	LPO	ENSG00000167419.11	transcript	ENST00000262290.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
LPP_chr3_188149157_188895671	188495064	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	76	0.0132	28	c.306 others(47): Show c.306+10379_306+10380insATATATATATATATATATATATATAT AT	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188495064	T T	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0028 a0002c0003t0028	a0002c0003t0028g0061 a0002c0003t0028g0061	1	76	0.0132	28	c.306 others(47): Show c.306+10361_306+10362insTTATATATATATATATATATATATAT AT	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LPP_chr3_188149157_188895671	188624766	C C	CCTTCCTT others(21): Show CCTTCCTTTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0069 a0001c0001t0026g0069	1	76	0.0132	28	c.111 others(49): Show c.1113+14922_1113+14923insCTTCCTTTTCCTTCCTTCCTTCCT TCCT	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	7/11			chr3	TogoVar
LPP_chr3_188149157_188895671	188843786	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	76	0.0132	28	c.141 others(49): Show c.1411-22402_1411-22401insAAAAAAAAAAAAAAAAAAAAAAAA AAAA	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRBA_chr4_150259435_151020284	150371182	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0137 a0002c0002t0001g0137	1	180	0.0056	28	c.719 others(49): Show c.7195-21024_7195-21023insAAAAAAAAAAAAAAAAAAAAAAAA AAAA	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	47/56			chr4	TogoVar

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