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
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(23): Show TATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03486.hp2 HG02886.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0188 a0001c0001t0003g0026 a0001c0001t0003g0188	2	332	0.0060	30	c.135 others(49): Show c.135+13241_135+13242insCTCTCTCTCTCTCTCTATATATATAT ATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(23): Show TATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0185 a0001c0002t0001g0185	1	332	0.0030	30	c.135 others(49): Show c.135+13241_135+13242insCTCTCTCTCTCTATATATATATATAT ATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(23): Show TATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01123.hp2 HG00609.hp1 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0301 a0001c0001t0003g0123 a0001c0001t0002g0301 a0001c0001t0003g0123	2	332	0.0060	30	c.135 others(49): Show c.135+13241_135+13242insCTCTCTCTCTATATATATATATATAT ATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(23): Show TATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0081 a0001c0002t0005g0081	1	332	0.0030	30	c.135 others(49): Show c.135+13241_135+13242insCTCTCTCTATATATATATATATATAT ATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(23): Show TATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01433.hp1 HG00280.hp2 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0147 a0001c0002t0001g0176 a0001c0001t0003g0147 a0001c0002t0001g0176	2	332	0.0060	30	c.135 others(49): Show c.135+13241_135+13242insCTCTCTATATATATATATATATATAT ATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0144 a0001c0001t0004g0144	1	332	0.0030	30	c.135 others(49): Show c.135+13241_135+13242insCTATATATATATATATATATATATAT ATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NIPBL_chr5_36871769_37071413	36952053	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0125 a0002c0003t0001g0125	1	328	0.0031	30	c.-79 others(47): Show c.-79-1564_-79-1563insTGTGTGTGTGTGTGTGTGTGTGTGCGCG CG	NIPBL	ENSG00000164190.19	transcript	ENST00000282516.13	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIPBL_chr5_36871769_37071413	37033685	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0318 a0001c0006t0002g0318	1	328	0.0031	30	c.586 others(49): Show c.5863-2673_5863-2672insCACACACACACACACACACACACACA CACA	NIPBL	ENSG00000164190.19	transcript	ENST00000282516.13	protein_coding	32/46		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(23): Show TATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03471.hp1 NA18979.hp1 HG00741.hp1 HG03471.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0275 a0001c0001t0003g0195 a0001c0001t0003g0274 a0001c0001t0001g0275 a0001c0001t0003g0195 a0001c0001t0003g0274	3	338	0.0089	30	c.54+ others(45): Show c.54+7069_54+7070insCTCTCTCTCTCTCTCTCTCTATATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(23): Show TATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA19083.hp1 HG00741.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0092 a0001c0001t0002g0191 a0001c0001t0001g0092 a0001c0001t0002g0191	2	338	0.0059	30	c.54+ others(45): Show c.54+7069_54+7070insCTCTCTCTCTCTCTCTCTATATATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(23): Show TATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	338	0.0030	30	c.54+ others(45): Show c.54+7069_54+7070insCTCTCTCTCTCTCTCTATATATATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(23): Show TATATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	338	0.0030	30	c.54+ others(45): Show c.54+7069_54+7070insCTCTCTCTCTCTATATATATATATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(23): Show TATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA19007.hp1 HG00738.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0262 a0001c0001t0001g0108 a0001c0001t0001g0262	2	338	0.0059	30	c.54+ others(45): Show c.54+7069_54+7070insCTCTCTCTATATATATATATATATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18747.hp2 HG00673.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0135 a0001c0001t0002g0005 a0001c0001t0002g0135	2	338	0.0059	30	c.54+ others(45): Show c.54+7069_54+7070insCTATATATATATATATATATATATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN2_chr6_123798865_124830640	123911785	A A	ATGTATAT others(23): Show ATGTATATATATATATGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03209.hp2 HG03688.hp2 others(1): Show HG01109.hp1 HG03209.hp2 HG03688.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0016 a0001c0002t0013 a0001c0001t0002 a0001c0001t0016 a0001c0002t0013	a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0016g0010 others(1): Show a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0016g0010 a0001c0002t0013g0058	4	66	0.0606	30	c.54+ others(49): Show c.54+107532_54+107533insGTATATATATATATGTATATATATAT ATGT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	123911805	A A	ATATATAT others(23): Show ATATATATATGTGTATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02896.hp1 HG02717.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0062 a0001c0001t0004g0059 a0001c0001t0002g0062 a0001c0001t0004g0059	2	66	0.0303	30	c.54+ others(49): Show c.54+107559_54+107560insTGTGTATATATATATATATATGTATA TATA	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	124342835	A A	ATTATTAT others(23): Show ATTATTATTATTATTATTATTATTGTTATTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	66	0.0152	30	c.193 others(49): Show c.193-12419_193-12418insTATTATTATTGTTATTGTTATTATTA TTAT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	124687479	A A	ATATATAT others(23): Show ATATATATATTCCATACATACACATACATGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	66	0.0152	30	c.474 others(49): Show c.474+29100_474+29101insATTCCATACATACACATACATGGTAT ATAT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN3_chr8_62243854_62989904	62729023	C C	CAAACCAA others(23): Show CAAACCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03942.hp2 NA19004.hp2 HG03704.hp1 HG03942.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0073 a0001c0002t0085 a0001c0002t0045 a0001c0002t0073 a0001c0002t0085	a0001c0002t0045g0020 a0001c0002t0073g0118 a0001c0002t0085g0137 a0001c0002t0045g0020 a0001c0002t0073g0118 a0001c0002t0085g0137	3	144	0.0208	30	c.274 others(49): Show c.274-17909_274-17908insAAACCAAAAAAAAAAAAAAAAAAAAA AAAA	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	3/6			chr8	TogoVar
NKAIN3_chr8_62243854_62989904	62821869	T T	TGAATTTT others(23): Show TGAATTTTTATTTGCCAAATAAAAATTCGGC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp2 HG02717.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0082 a0001c0001t0020 a0001c0001t0082	a0001c0001t0020g0070 a0001c0001t0082g0078 a0001c0001t0020g0070 a0001c0001t0082g0078	2	144	0.0139	30	c.471 others(49): Show c.471+74758_471+74787dupATAAAAATTCGGCGAATTTTTATTTG CCAA	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKAIN3_chr8_62243854_62989904	62845285	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG03704.hp1 HG02004.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0073 a0001c0002t0005 a0001c0002t0073	a0001c0002t0005g0022 a0001c0002t0073g0118 a0001c0002t0005g0022 a0001c0002t0073g0118	2	144	0.0139	30	c.472 others(49): Show c.472-73140_472-73139insTATATATATATATATATATATATATA TATA	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKD1_chr16_50543396_50654249	50589694	T T	TTTCTCTT others(23): Show TTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0154	1	212	0.0047	30	c.193 others(49): Show c.193-18558_193-18529dupTCTCTTCTCTTCTCTTCTCTTCTCTT CTCT	NKD1	ENSG00000140807.7	transcript	ENST00000268459.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NKD1_chr16_50543396_50654249	50598262	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03516.hp2 HG02486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0208 a0001c0001t0012g0209 a0001c0001t0012g0208 a0001c0001t0012g0209	2	212	0.0094	30	c.193 others(49): Show c.193-10031_193-10030insTGTGTGTGTGTGTGTGTGTGTGTGTG CGCG	NKD1	ENSG00000140807.7	transcript	ENST00000268459.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NKD2_chr5_1003802_1043943	1004191	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0004 a0001c0001t0010g0004	1	319	0.0031	30	c.-48 others(41): Show c.-4867_-4866insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding		4610		chr5	TogoVar
NKX1-1_chr4_1397932_1411442	1399656	T T	TGTGTGGG others(23): Show TGTGTGGGCTTCGGGAAGCTCCTTAGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0046 a0001c0023t0001g0046	1	382	0.0026	30	c.32 others(41): Show c.3275_*3276insCCCCTCTAAGGAGCTTCCCGAAGCCCACAC	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		3275		chr4	TogoVar
NKX1-2_chr10_124440243_124455035	124444486	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0004 a0002c0004t0004g0004	1	446	0.0022	30	c.29 others(41): Show c.2942_*2943insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NKX1-2	ENSG00000229544.9	transcript	ENST00000451024.5	protein_coding		756		chr10	TogoVar
NKX2-6_chr8_23696740_23711756	23708498	C C	CTCTTCTT others(23): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	30	c.-19 others(41): Show c.-1901_-1900insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding		1743		chr8	TogoVar
NKX2-6_chr8_23696740_23711756	23708501	C C	CTCCTCTT others(23): Show CTCCTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	30	c.-19 others(41): Show c.-1904_-1903insAGAAGAAGAAGAAGAAGAAGAAGAAGAGGA	NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding		1746		chr8	TogoVar
NKX2-6_chr8_23696740_23711756	23708501	C C	CTCTTCTT others(23): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	30	c.-19 others(41): Show c.-1904_-1903insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding		1746		chr8	TogoVar
NKX2-6_chr8_23696740_23711756	23708574	T T	TCTTCTTC others(23): Show TCTTCTTCTTCTTCTTCTCCTCCTCCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 NA18940.hp1 HG02074.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0001t0001g0001 a0001c0001t0003g0003	2	434	0.0046	30	c.-19 others(41): Show c.-1977_-1976insGAGGAGGAGGAGGAGAAGAAGAAGAAGAAG	NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding		1819		chr8	TogoVar
NLGN1_chr3_173392744_174299372	173490921	T T	TTGCACAT others(23): Show TTGCACATTGTGCAAGCACATGCTTGCACAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03139.hp1 HG02572.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0007t0027 a0001c0001t0003 a0001c0007t0027	a0001c0001t0003g0026 a0001c0007t0027g0020 a0001c0001t0003g0026 a0001c0007t0027g0020	2	44	0.0455	30	c.-32 others(51): Show c.-321+92860_-321+92861insCACATTGTGCAAGCACATGCTTGC ACAATG	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NLGN1_chr3_173392744_174299372	173747197	T T	TAATATAT others(23): Show TAATATATATATCTTTAAGTATATATATTTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG02723.hp1 others(3): Show HG02055.hp2 HG02451.hp2 HG02723.hp1 HG03041.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0021 a0001c0001t0031 others(3): Show a0001c0001t0002 a0001c0001t0021 a0001c0001t0031 a0001c0001t0040 a0001c0002t0010 a0001c0002t0011	a0001c0001t0002g0039 a0001c0001t0021g0036 a0001c0001t0031g0001 others(3): Show a0001c0001t0002g0039 a0001c0001t0021g0036 a0001c0001t0031g0001 a0001c0001t0040g0005 a0001c0002t0010g0010 a0001c0002t0011g0014	6	44	0.1364	30	c.554 others(49): Show c.554-60415_554-60386dupATATCTTTAAGTATATATATTTAAAT ATAT	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NLGN1_chr3_173392744_174299372	174080922	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	44	0.0227	30	c.707 others(51): Show c.707-194387_707-194358dupTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NLGN1_chr3_173392744_174299372	174154936	T T	TTTTATAT others(23): Show TTTTATATATAATATATAATATAATATATAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02451.hp1 HG01255.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0007 a0001c0001t0002 a0001c0004t0007	a0001c0001t0002g0007 a0001c0004t0007g0041 a0001c0001t0002g0007 a0001c0004t0007g0041	2	44	0.0455	30	c.707 others(51): Show c.707-120377_707-120376insTATATATAATATATAATATAATAT ATAATT	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NLGN4X_chrX_5885042_6233867	5979719	T T	TATATATA others(23): Show TATATATATGTGTGTATATATACACACATAC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG04115.hp1 HG04228.hp1 others(1): Show HG03492.hp1 HG04115.hp1 HG04228.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0064 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0064 a0001c0001t0009g0090	4	128	0.0313	30	c.625 others(49): Show c.625+49560_625+49561insGTATGTGTGTATATATACACACATAT ATAT	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	3/5			chrX	TogoVar
NLGN4X_chrX_5885042_6233867	6010513	T T	TTTATTAT others(23): Show TTTATTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19085.hp1 NA18984.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0102 a0001c0001t0005g0058 a0001c0001t0001g0102 a0001c0001t0005g0058	2	128	0.0156	30	c.625 others(49): Show c.625+18737_625+18766dupTAATAATAATAATAATAATAATAATA ATAA	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	3/5			chrX	TogoVar
NLGN4X_chrX_5885042_6233867	6161377	T T	TATAATAT others(23): Show TATAATATAGGATATAAAATATATTCTATAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00597.hp1 others(34): Show HG00140.hp1 HG00423.hp1 HG00597.hp1 HG00673.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01099.hp1 HG01109.hp1 HG01255.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01943.hp1 HG01981.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02258.hp1 HG02895.hp1 HG02897.hp1 HG03139.hp1 HG03239.hp1 HG03492.hp1 HG03579.hp1 HG03654.hp1 HG03927.hp2 HG04228.hp1 NA18948.hp1 NA18968.hp2 NA18980.hp2 NA18988.hp1 NA18999.hp1 NA19000.hp1 NA19065.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0002t0003 a0001c0003t0002 a0001c0003t0006 a0001c0004t0001 a0001c0005t0004 a0001c0008t0001	a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0036 others(34): Show a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0089 a0001c0001t0001g0109 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0047 a0001c0001t0002g0059 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0085 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0004g0002 a0001c0001t0004g0005 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0037 a0001c0001t0004g0050 a0001c0001t0004g0061 a0001c0001t0004g0065 a0001c0001t0011g0108 a0001c0002t0003g0034 a0001c0002t0003g0046 a0001c0003t0002g0041 a0001c0003t0006g0038 a0001c0003t0006g0040 a0001c0003t0006g0042 a0001c0004t0001g0101 a0001c0005t0004g0056 a0001c0008t0001g0032	37	128	0.2891	30	c.-30 others(49): Show c.-305-9607_-305-9606insTTATAGAATATATTTTATATCCTATA TTAT	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	1/5			chrX	TogoVar
NLRC4_chr2_32219453_32269886	32261316	C C	CCCTTTTT others(23): Show CCCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	394	0.0025	30	c.-11 others(49): Show c.-119+3421_-119+3422insAAAAAAAAAAAAAAAAAAAAAAAAAA AAGG	NLRC4	ENSG00000091106.19	transcript	ENST00000402280.6	protein_coding	1/8			chr2	TogoVar
NLRC4_chr2_32219453_32269886	32261316	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02922.hp2 HG03471.hp2 HG02897.hp1 HG02922.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0191 a0001c0003t0001g0386 a0001c0003t0001g0387 a0001c0001t0001g0191 a0001c0003t0001g0386 a0001c0003t0001g0387	3	394	0.0076	30	c.-11 others(49): Show c.-119+3421_-119+3422insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	NLRC4	ENSG00000091106.19	transcript	ENST00000402280.6	protein_coding	1/8			chr2	TogoVar
NLRP2_chr19_54961374_55006138	54976810	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19088.hp2 NA19087.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0010t0008 a0001c0002t0001 a0001c0010t0008	a0001c0002t0001g0319 a0001c0010t0008g0316 a0001c0002t0001g0319 a0001c0010t0008g0316	2	429	0.0047	30	c.326 others(45): Show c.326-941_326-940insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP2_chr19_54961374_55006138	54984485	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02615.hp2 HG02735.hp1 others(1): Show HG02015.hp1 HG02615.hp2 HG02735.hp1 NA19058.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0010 a0002c0003 a0001c0004 a0001c0010 a0002c0003	a0001c0004t0001 a0001c0010t0001 a0001c0010t0008 others(1): Show a0001c0004t0001 a0001c0010t0001 a0001c0010t0008 a0002c0003t0003	a0001c0004t0001g0312 a0001c0010t0001g0396 a0001c0010t0008g0181 others(1): Show a0001c0004t0001g0312 a0001c0010t0001g0396 a0001c0010t0008g0181 a0002c0003t0003g0259	4	429	0.0093	30	c.203 others(47): Show c.2031-547_2031-546insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993551	C C	CCCCTCCC others(23): Show CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0010 a0014c0019t0010	a0014c0019t0010g0175 a0014c0019t0010g0175	1	350	0.0029	30	c.56 others(41): Show c.5638_*5639insCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4923		chr19	TogoVar
NMBR_chr6_142069484_142152122	142079104	G G	GAGAAAGA others(23): Show GAGAAAGAGAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	330	0.0030	30	c.423 others(45): Show c.423-202_423-201insTTCTTTCTTTCTTTCTTTCTCTCTCTTTCT	NMBR	ENSG00000135577.5	transcript	ENST00000258042.2	protein_coding	2/3			chr6	TogoVar
NMBR_chr6_142069484_142152122	142079104	G G	GAGAAAGA others(23): Show GAGAAAGAGAGAGAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01081.hp2 HG01123.hp1 others(18): Show HG00733.hp1 HG01081.hp2 HG01123.hp1 HG01167.hp2 HG01192.hp1 HG01256.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01993.hp2 HG02004.hp2 HG02630.hp2 HG03041.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG04199.hp2 NA18954.hp1 NA18967.hp1 NA19062.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0013 a0001c0001t0026 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0026 a0001c0003t0001	a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0057 others(17): Show a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0057 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0173 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0277 a0001c0001t0013g0147 a0001c0001t0013g0150 a0001c0001t0026g0185 a0001c0003t0001g0025 a0001c0003t0001g0029 a0001c0003t0001g0056	21	330	0.0636	30	c.423 others(45): Show c.423-202_423-201insTTCTTTCTTTCTTTCTCTCTCTCTCTTTCT	NMBR	ENSG00000135577.5	transcript	ENST00000258042.2	protein_coding	2/3			chr6	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	413	0.0024	30	c.48 others(41): Show c.4818_*4819insAAAAAAAAAAATATATATATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	413	0.0024	30	c.48 others(41): Show c.4818_*4819insAAAAAAAAATATATATATATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME7_chr1_169127531_169372797	169355030	T T	TTATATAT others(23): Show TTATATATTATAGATATAATATATAATATAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01516.hp1 HG02615.hp1 others(1): Show HG01071.hp2 HG01516.hp1 HG02615.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(1): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0299	4	302	0.0133	30	c.3+1 others(45): Show c.3+12648_3+12677dupGTATATTATATATTATATCTATAATATATA	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11			chr1	TogoVar
NME7_chr1_169127531_169372797	169355225	A A	ATATAATA others(23): Show ATATAATATATAATATATTATATATTATATC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02074.hp2 HG00544.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0148 a0001c0001t0002g0150	2	302	0.0066	30	c.3+1 others(45): Show c.3+12453_3+12482dupGATATAATATATAATATATTATATATTATA	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11			chr1	TogoVar
NME8_chr7_37843597_37905397	37847173	G G	GGAAGAAG others(23): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA19088.hp2 NA18947.hp1 NA19088.hp2	a0001 a0007 a0001 a0007	a0001c0007 a0007c0018 a0001c0007 a0007c0018	a0001c0007t0001 a0007c0018t0001 a0001c0007t0001 a0007c0018t0001	a0001c0007t0001g0068 a0007c0018t0001g0036 a0001c0007t0001g0068 a0007c0018t0001g0036	2	388	0.0052	30	c.-17 others(41): Show c.-1796_-1795insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		1423		chr7	TogoVar
NME8_chr7_37843597_37905397	37847173	G G	GGAAGAGG others(23): Show GGAAGAGGAAGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 NA19084.hp2 HG02273.hp2 NA19084.hp2	a0005 a0005	a0005c0006 a0005c0019 a0005c0006 a0005c0019	a0005c0006t0002 a0005c0019t0002 a0005c0006t0002 a0005c0019t0002	a0005c0006t0002g0285 a0005c0019t0002g0276 a0005c0006t0002g0285 a0005c0019t0002g0276	2	388	0.0052	30	c.-17 others(41): Show c.-1796_-1795insGAAGAGGAAGAAGAAGAAGAAGAAGAAGAA	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		1423		chr7	TogoVar

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