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
NRIP2_chr12_2820348_2840035	2835190	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	422	0.0024	24	c.-20 others(33): Show c.-208_-207insTCTCACACACACACACACACACAC	NRIP2	ENSG00000053702.15	transcript	ENST00000337508.9	protein_coding		156		chr12	TogoVar
NRL_chr14_24073662_24119949	24082438	T T	TCCCCCCC others(17): Show TCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0194 a0001c0001t0021g0194	1	376	0.0027	24	c.381 others(37): Show c.381+29_381+30insGGGGGGGGGGGGGGGGGGGGGGGG	NRL	ENSG00000129535.13	transcript	ENST00000561028.6	protein_coding	2/2			chr14	TogoVar
NRP1_chr10_33172493_33339667	33188910	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03209.hp1 HG01257.hp2 HG03209.hp1	a0001 a0005 a0001 a0005	a0001c0009 a0005c0033 a0001c0009 a0005c0033	a0001c0009t0009 a0005c0033t0004 a0001c0009t0009 a0005c0033t0004	a0001c0009t0009g0127 a0005c0033t0004g0194 a0001c0009t0009g0127 a0005c0033t0004g0194	2	262	0.0076	24	c.206 others(43): Show c.2063-2446_2063-2423dupATATATATATATATATATATATAT	NRP1	ENSG00000099250.18	transcript	ENST00000374867.7	protein_coding	13/16			chr10	TogoVar
NRP1_chr10_33172493_33339667	33199361	T T	TTCTATAT others(17): Show TTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0030 a0001c0003t0015g0030	1	262	0.0038	24	c.186 others(43): Show c.1865-1653_1865-1652insTATATATATATATATATATATAGA	NRP1	ENSG00000099250.18	transcript	ENST00000374867.7	protein_coding	11/16			chr10	TogoVar
NRP1_chr10_33172493_33339667	33199389	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0006 a0001c0003t0007g0006	1	262	0.0038	24	c.186 others(43): Show c.1865-1681_1865-1680insAATATATATATATATATATATATA	NRP1	ENSG00000099250.18	transcript	ENST00000374867.7	protein_coding	11/16			chr10	TogoVar
NRP2_chr2_205677501_205803131	205697312	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19030.hp2 HG01884.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0046 a0001c0002t0004 a0001c0002t0046	a0001c0002t0004g0140 a0001c0002t0046g0142 a0001c0002t0004g0140 a0001c0002t0046g0142	2	352	0.0057	24	c.74- others(37): Show c.74-222_74-199dupGTGTGTGTGTGTGTGTGTGTGTGT	NRP2	ENSG00000118257.17	transcript	ENST00000357785.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NRP2_chr2_205677501_205803131	205769505	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0035	1	352	0.0028	24	c.242 others(43): Show c.2425+2714_2425+2737dupCACACACACACACACACACACACA	NRP2	ENSG00000118257.17	transcript	ENST00000357785.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NRP2_chr2_205677501_205803131	205784001	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03540.hp1 NA18906.hp1 HG02615.hp2 HG03540.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0014 a0001c0002 a0001c0006 a0002c0014	a0001c0002t0001 a0001c0006t0039 a0002c0014t0001 a0001c0002t0001 a0001c0006t0039 a0002c0014t0001	a0001c0002t0001g0191 a0001c0006t0039g0305 a0002c0014t0001g0196 a0001c0002t0001g0191 a0001c0006t0039g0305 a0002c0014t0001g0196	3	352	0.0085	24	c.242 others(43): Show c.2426-8213_2426-8212insCACACACACACACACACACACACA	NRP2	ENSG00000118257.17	transcript	ENST00000357785.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NRSN1_chr6_24121215_24152530	24126152	A A	AGGCGGCG others(17): Show AGGCGGCGGCGGCGGCGGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02622.hp1 HG02965.hp1 others(2): Show HG02258.hp1 HG02622.hp1 HG02965.hp1 HG02965.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0002g0039 others(2): Show a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0002g0039 a0001c0001t0003g0121 a0001c0001t0003g0133	5	406	0.0123	24	c.-27 others(33): Show c.-271_-270insGGCGGCGGCGGCGGCGGCGGCGGC	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		62		chr6	TogoVar
NRSN1_chr6_24121215_24152530	24150814	C C	CACAAGAA others(17): Show CACAAGAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG03654.hp1 HG03654.hp2 HG00140.hp2 HG03654.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0168 a0001c0001t0006g0203 a0001c0001t0006g0236 a0001c0001t0006g0168 a0001c0001t0006g0203 a0001c0001t0006g0236	3	406	0.0074	24	c.48 others(35): Show c.4868_*4869insACAAGAAAGAAAGAAAGAAAGAAA	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		3285		chr6	TogoVar
NRSN1_chr6_24121215_24152530	24150816	C C	CAAGAAAG others(17): Show CAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02622.hp1 HG02647.hp2 others(4): Show HG02451.hp1 HG02622.hp1 HG02647.hp2 HG03139.hp1 HG03225.hp2 HG04184.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0021 a0001c0003t0008	a0001c0001t0002g0004 a0001c0001t0003g0133 a0001c0001t0003g0233 others(3): Show a0001c0001t0002g0004 a0001c0001t0003g0133 a0001c0001t0003g0233 a0001c0001t0017g0054 a0001c0001t0021g0147 a0001c0003t0008g0014	7	406	0.0172	24	c.48 others(35): Show c.4870_*4871insAAGAAAGAAAGAAAGAAAGAAAGA	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		3287		chr6	TogoVar
NRSN1_chr6_24121215_24152530	24150816	C C	CAAGAAGG others(17): Show CAAGAAGGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0019 a0001c0001t0010g0019	1	406	0.0025	24	c.48 others(35): Show c.4870_*4871insAAGAAGGAAAGAAAGAAAGAAAGA	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		3287		chr6	TogoVar
NRSN1_chr6_24121215_24152530	24150881	A A	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAAAGAAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00735.hp2 others(4): Show HG00280.hp2 HG00544.hp1 HG00735.hp2 HG01346.hp2 HG01516.hp2 NA18959.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0041 a0001c0001t0001g0184 a0001c0001t0001g0219	7	406	0.0172	24	c.49 others(35): Show c.4935_*4936insAGAAAGAAAGAAAGAAAGAAAGAG	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		3352		chr6	TogoVar
NRSN2_chr20_342111_359862	348484	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	414	0.0024	24	c.-12 others(41): Show c.-121-744_-121-721dupGTGTGTGTGTGTGTGTGTGTGTGT	NRSN2	ENSG00000125841.13	transcript	ENST00000382285.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
NRXN1_chr2_49913503_51037132	50019641	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0068 a0001c0001t0018g0068	1	116	0.0086	24	c.412 others(45): Show c.4128+33629_4128+33630insTTTTTTTTTTTTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	21/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50163164	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0063 a0001c0001t0020g0063	1	116	0.0086	24	c.354 others(45): Show c.3547-71671_3547-71670insTATATATATATATATATATATATA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	18/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50278264	T T	TTATATAT others(17): Show TTATATATATATATTATATATATTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03471.hp2 NA20300.hp1 HG02109.hp2 HG03471.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0001t0055 a0001c0002t0010 a0001c0001t0014 a0001c0001t0055 a0001c0002t0010	a0001c0001t0014g0022 a0001c0001t0055g0031 a0001c0002t0010g0095 a0001c0001t0014g0022 a0001c0001t0055g0031 a0001c0002t0010g0095	3	116	0.0259	24	c.336 others(45): Show c.3365-41295_3365-41294insTAATATATATAATATATATATATA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50296518	C C	CTATTAGT others(17): Show CTATTAGTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00738.hp1 others(16): Show HG00438.hp2 HG00609.hp1 HG00738.hp1 HG01099.hp2 HG01175.hp1 HG01346.hp1 HG01433.hp1 HG02027.hp1 HG02132.hp2 HG02683.hp2 HG02717.hp2 HG02886.hp1 NA18941.hp2 NA18959.hp1 NA18959.hp2 NA18975.hp1 NA18975.hp2 NA19012.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0019 a0001c0001t0028 a0001c0001t0046 a0001c0001t0057 a0001c0002t0005 a0001c0002t0007 a0001c0002t0045 a0001c0002t0065 a0001c0004t0007	a0001c0001t0001g0053 a0001c0001t0002g0033 a0001c0001t0003g0020 others(16): Show a0001c0001t0001g0053 a0001c0001t0002g0033 a0001c0001t0003g0020 a0001c0001t0004g0010 a0001c0001t0006g0054 a0001c0001t0009g0051 a0001c0001t0011g0069 a0001c0001t0011g0070 a0001c0001t0019g0072 a0001c0001t0028g0008 a0001c0001t0046g0039 a0001c0001t0057g0038 a0001c0002t0005g0084 a0001c0002t0005g0103 a0001c0002t0007g0089 a0001c0002t0045g0087 a0001c0002t0065g0116 a0001c0004t0007g0090 a0001c0004t0007g0093	19	116	0.1638	24	c.336 others(45): Show c.3365-59549_3365-59548insATAATAATAATAATAATACTAATA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50334209	A A	ATATATAT others(17): Show ATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	116	0.0086	24	c.336 others(45): Show c.3365-97240_3365-97239insCATACATATATATATATATATATA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50447737	T T	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02922.hp1 HG02922.hp2 others(1): Show HG01099.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0009 a0001c0001t0056 a0001c0002t0001 others(1): Show a0001c0001t0009 a0001c0001t0056 a0001c0002t0001 a0001c0011t0015	a0001c0001t0009g0051 a0001c0001t0056g0049 a0001c0002t0001g0104 others(1): Show a0001c0001t0009g0051 a0001c0001t0056g0049 a0001c0002t0001g0104 a0001c0011t0015g0088	4	116	0.0345	24	c.336 others(45): Show c.3364+17704_3364+17705insTATATATATATATATATATATAAA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50447737	T T	TTTTTTAT others(17): Show TTTTTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	116	0.0086	24	c.336 others(45): Show c.3364+17704_3364+17705insTATATATATATATATATATAAAAA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50562329	C C	CGATAGAT others(17): Show CGATAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0023	1	116	0.0086	24	c.132 others(43): Show c.1321-9328_1321-9305dupTATCTATCTATCTATCTATCTATC	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	8/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50610642	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01433.hp1 HG02280.hp2 HG01261.hp1 HG01433.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0001t0046 a0001c0002t0010 a0001c0001t0020 a0001c0001t0046 a0001c0002t0010	a0001c0001t0020g0063 a0001c0001t0046g0039 a0001c0002t0010g0106 a0001c0001t0020g0063 a0001c0001t0046g0039 a0001c0002t0010g0106	3	116	0.0259	24	c.132 others(43): Show c.1320+9356_1320+9379dupATATATATATATATATATATATAT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	8/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50658411	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02717.hp1 HG00438.hp2 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0007 a0001c0002t0006 a0001c0002t0007	a0001c0002t0006g0108 a0001c0002t0007g0089 a0001c0002t0006g0108 a0001c0002t0007g0089	2	116	0.0172	24	c.833 others(43): Show c.833-34820_833-34797dupACACACACACACACACACACACAC	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03130.hp1 HG03130.hp2 HG02280.hp1 HG03130.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0056 a0001c0002t0001 a0001c0008t0016 a0001c0001t0056 a0001c0002t0001 a0001c0008t0016	a0001c0001t0056g0049 a0001c0002t0001g0105 a0001c0008t0016g0048 a0001c0001t0056g0049 a0001c0002t0001g0105 a0001c0008t0016g0048	3	116	0.0259	24	c.833 others(43): Show c.833-60032_833-60031insATTTTTTTTTTTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02523.hp2 NA19240.hp1 others(1): Show HG01884.hp1 HG02523.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0018 others(1): Show a0001c0001t0006 a0001c0001t0014 a0001c0001t0018 a0001c0001t0064	a0001c0001t0006g0023 a0001c0001t0014g0022 a0001c0001t0018g0068 others(1): Show a0001c0001t0006g0023 a0001c0001t0014g0022 a0001c0001t0018g0068 a0001c0001t0064g0071	4	116	0.0345	24	c.833 others(43): Show c.833-60032_833-60031insATATATATATTTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	116	0.0086	24	c.833 others(43): Show c.833-60032_833-60031insATATATATATATTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN3_chr14_78165373_79873291	78235000	A A	ATATATAT others(17): Show ATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	24	0.0417	24	c.-70 others(43): Show c.-703-7370_-703-7369insGTGTATATATATATATATATATAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	78888848	T T	TACACACA others(17): Show TACACACACATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0011 a0001c0002t0015g0011	1	24	0.0417	24	c.227 others(45): Show c.2276-68385_2276-68384insTACACACACACACACACACACACA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79059250	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0009 a0001c0002t0007g0009	1	24	0.0417	24	c.326 others(45): Show c.3262+71111_3262+71134dupTTTTTTTTTTTTTTTTTTTTTTTT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79499956	C C	CATGTGTG others(17): Show CATGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0016 a0001c0002t0011g0016	1	24	0.0417	24	c.344 others(45): Show c.3444+32554_3444+32555insATGTGTGTGTGTGTGTGTGTGTGT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20			chr14	TogoVar
NRXN3_chr14_78165373_79873291	79522989	T T	TTTTCTTG others(17): Show TTTTCTTGCTTACTTGCTTGGTTGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03453.hp1 HG01884.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0011 a0001c0003t0009 a0001c0002t0011 a0001c0003t0009	a0001c0002t0011g0016 a0001c0003t0009g0024 a0001c0002t0011g0016 a0001c0003t0009g0024	2	24	0.0833	24	c.344 others(45): Show c.3444+55593_3444+55616dupTGCTTACTTGCTTGGTTGCTTTCT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79637729	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0020 a0001c0007t0002g0020	1	24	0.0417	24	c.344 others(45): Show c.3445-26031_3445-26030insTTTTTTTTTTTTTTTTTTTTTTTT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSD2_chr4_1866393_1987192	1872587	T T	TGAGAGAG others(17): Show TGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	130	0.0077	24	c.-30 others(41): Show c.-30+1046_-30+1047insAGAGAGAGAGAGAGAGAGAGAGAG	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSD2_chr4_1866393_1987192	1872589	T T	TGAGAGAG others(17): Show TGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	130	0.0077	24	c.-30 others(41): Show c.-30+1048_-30+1049insAGAGAGAGAGAGAGAGAGAGAGAG	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSD2_chr4_1866393_1987192	1872591	T T	TGAGAGAG others(17): Show TGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	130	0.0077	24	c.-30 others(41): Show c.-30+1071_-30+1094dupAGAGAGAGAGAGAGAGAGAGAGAG	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSD2_chr4_1866393_1987192	1872591	T T	TGTGAGAG others(17): Show TGTGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	130	0.0077	24	c.-30 others(41): Show c.-30+1050_-30+1051insTGAGAGAGAGAGAGAGAGAGAGAG	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSD2_chr4_1866393_1987192	1872591	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0123 a0001c0001t0007g0123	1	130	0.0077	24	c.-30 others(41): Show c.-30+1050_-30+1051insTGTGTGTGTGTGTGAGAGAGAGAG	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSD2_chr4_1866393_1987192	1872633	A A	AGAGAGAG others(17): Show AGAGAGAGAGAGAGAGAGAGAGCGC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0045 a0001c0002t0003g0045	1	130	0.0077	24	c.-30 others(41): Show c.-30+1094_-30+1095insAGAGAGAGAGAGAGAGAGCGCGAG	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSD2_chr4_1866393_1987192	1872635	A A	AGAGAGAG others(17): Show AGAGAGAGAGAGAGAGAGAGAGCGC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	130	0.0077	24	c.-30 others(41): Show c.-30+1094_-30+1095insAGAGAGAGAGAGAGAGAGAGCGCG	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSL1_chr1_212721153_212796777	212795262	T T	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18973.hp1 NA18990.hp1 others(1): Show NA18952.hp2 NA18973.hp1 NA18990.hp1 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0122 a0002c0002t0123 a0002c0002t0012 a0002c0002t0122 a0002c0002t0123	a0002c0002t0012g0276 a0002c0002t0012g0279 a0002c0002t0122g0274 others(1): Show a0002c0002t0012g0276 a0002c0002t0012g0279 a0002c0002t0122g0274 a0002c0002t0123g0270	4	364	0.0110	24	c.-35 others(35): Show c.-3523_-3500dupTAAATAAATAAATAAATAAATAAA	NSL1	ENSG00000117697.15	transcript	ENST00000366977.8	protein_coding		3486		chr1	TogoVar
NSMAF_chr8_58578508_58664853	58625394	A A	ATATATAT others(17): Show ATATATATGTATGTATGTATGTATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp2 others(73): Show HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00597.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01516.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02135.hp1 HG02258.hp1 HG02559.hp2 HG02572.hp2 HG02683.hp1 HG02738.hp1 HG02970.hp1 HG03209.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18977.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18988.hp2 NA18990.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp1 NA19075.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0001c0017 others(1): Show a0001c0001 a0001c0008 a0001c0017 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0015 a0001c0008t0002 a0001c0017t0001 a0002c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0057 a0001c0001t0001g0093 others(68): Show a0001c0001t0001g0016 a0001c0001t0001g0057 a0001c0001t0001g0093 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0145 a0001c0001t0001g0302 a0001c0001t0001g0312 a0001c0001t0001g0340 a0001c0001t0002g0015 a0001c0001t0002g0076 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0098 a0001c0001t0002g0114 a0001c0001t0002g0133 a0001c0001t0002g0146 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0186 a0001c0001t0002g0191 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0215 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0275 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0331 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0010g0020 a0001c0001t0015g0131 a0001c0008t0002g0315 a0001c0008t0002g0316 a0001c0017t0001g0128 a0002c0002t0001g0001 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096	76	368	0.2065	24	c.385 others(41): Show c.385-1615_385-1614insCATACATACATACATACATATATA	NSMAF	ENSG00000035681.9	transcript	ENST00000038176.8	protein_coding	6/30			chr8	TogoVar
NSMAF_chr8_58578508_58664853	58625394	A A	ATATGTAT others(17): Show ATATGTATGTATGTATGTATGTATG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	368	0.0027	24	c.385 others(41): Show c.385-1615_385-1614insCATACATACATACATACATACATA	NSMAF	ENSG00000035681.9	transcript	ENST00000038176.8	protein_coding	6/30			chr8	TogoVar
NSMCE1_chr16_27219994_27273772	27251159	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	334	0.0030	24	c.136 others(41): Show c.136+6252_136+6275dupATATATATATATATATATATATAT	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	2/7			chr16	TogoVar
NSMCE1_chr16_27219994_27273772	27251189	T T	TATATATA others(17): Show TATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18975.hp1 NA18994.hp1 others(1): Show HG02056.hp2 NA18975.hp1 NA18994.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0001 a0002c0010t0002 a0002c0002t0001 a0002c0010t0002	a0002c0002t0001g0034 a0002c0002t0001g0089 a0002c0002t0001g0101 others(1): Show a0002c0002t0001g0034 a0002c0002t0001g0089 a0002c0002t0001g0101 a0002c0010t0002g0088	4	334	0.0120	24	c.136 others(41): Show c.136+6245_136+6246insTTATATATATATATATATATATAT	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	2/7			chr16	TogoVar
NSMCE1_chr16_27219994_27273772	27265161	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	334	0.0030	24	c.-12 others(41): Show c.-12+3521_-12+3544dupAAAAAAAAAAAAAAAAAAAAAAAA	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	1/7			chr16	TogoVar
NSMCE2_chr8_125086860_125372120	125256922	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	244	0.0041	24	c.418 others(43): Show c.418+74680_418+74703dupAAAAAAAAAAAAAAAAAAAAAAAA	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125316732	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG01070.hp1 others(15): Show HG00639.hp2 HG00642.hp2 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01928.hp2 HG01943.hp1 HG02040.hp1 HG02145.hp1 HG02717.hp1 HG02809.hp2 HG02922.hp1 HG03139.hp1 HG03471.hp2 HG03579.hp2 HG04115.hp2 HG04228.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0092 others(15): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0092 a0001c0001t0001g0111 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0174 a0001c0001t0001g0195 a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0002g0005 a0001c0001t0002g0014 a0001c0001t0002g0132	18	244	0.0738	24	c.419 others(43): Show c.419-40471_419-40448dupCTTCCTTCCTTCCTTCCTTCCTTC	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125320233	A A	AGGGAAGG others(17): Show AGGGAAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	244	0.0041	24	c.419 others(43): Show c.419-36986_419-36985insGGGAAGGGAGGGAGGGAGGGAGGG	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7			chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125320251	G G	GGGAGGGA others(17): Show GGGAGGGAGGGAGGGAGGGAAGGAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	244	0.0041	24	c.419 others(43): Show c.419-36965_419-36964insGGGAGGGAGGGAGGGAAGGAAGGA	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar

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