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
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(14): Show AAAAAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG03710.hp2 HG01256.hp2 HG01258.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0001 a0001c0009t0002 a0001c0002t0001 a0001c0009t0002	a0001c0002t0001g0054 a0001c0009t0002g0119 a0001c0009t0002g0120 a0001c0002t0001g0054 a0001c0009t0002g0119 a0001c0009t0002g0120	3	208	0.0144	21	c.-10 others(42): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTTTTTT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
NRCAM_chr7_108142649_108461436	108335434	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0082 a0001c0001t0001g0083	2	208	0.0096	21	c.-17 others(42): Show c.-173-22724_-173-22704dupAAAAAAAAAAAAAAAAAAAAA	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	2/32			chr7	TogoVar
NRDE2_chr14_90262860_90336941	90300861	G G	GGGGGGGA others(14): Show GGGGGGGAGGAGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0061 a0001c0004t0001g0061	1	344	0.0029	21	c.154 others(38): Show c.1545+377_1545+378insTCCCCTCCCCCTCCTCCCCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90330214	A A	AAAAAAAA others(14): Show AAAAAAAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0306 a0001c0003t0002g0306	1	344	0.0029	21	c.64+ others(36): Show c.64+1626_64+1627insATTTATTTATTTATTTTTTTT	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	1/13			chr14	TogoVar
NRF1_chr7_129606720_129762076	129754464	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0164 a0001c0002t0001g0164	1	384	0.0026	21	c.134 others(38): Show c.1349-535_1349-534insAAAAAAAAAAAAAAAAAAAAA	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
NRF1_chr7_129606720_129762076	129761666	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	384	0.0026	21	c.64 others(32): Show c.6485_*6486insAAAAAAAAAAAAAAAAAAAAA	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4591		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	384	0.0026	21	c.64 others(32): Show c.6499_*6500insAAAAAAAAAAAAAAAAAAAAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01361.hp2 HG03491.hp1 others(1): Show HG00735.hp1 HG01361.hp2 HG03491.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0117 a0001c0001t0002g0125 others(1): Show a0001c0001t0002g0109 a0001c0001t0002g0117 a0001c0001t0002g0125 a0001c0001t0002g0157	4	384	0.0104	21	c.64 others(32): Show c.6499_*6500insAAAAAAAAAAAAAAAAAATAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02970.hp2 HG02486.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0144 a0001c0001t0002g0147 a0001c0001t0001g0144 a0001c0001t0002g0147	2	384	0.0052	21	c.64 others(32): Show c.6499_*6500insAAAAAAAAAAAAAAAATATAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03225.hp1 HG03195.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0182 a0001c0001t0002g0148 a0001c0001t0001g0182 a0001c0001t0002g0148	2	384	0.0052	21	c.64 others(32): Show c.6499_*6500insAAAAAAAAAAAAAATATATAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	384	0.0026	21	c.64 others(32): Show c.6499_*6500insAAAAAAAAAAAATATATATAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	384	0.0026	21	c.64 others(32): Show c.6499_*6500insAAAAAATATATATATATATAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0232 a0001c0002t0017g0232	1	384	0.0026	21	c.64 others(32): Show c.6499_*6500insAAAATATATATATATATATAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRG1_chr8_32543311_32779046	32634099	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02896.hp1 HG03139.hp2 others(1): Show HG02818.hp2 HG02896.hp1 HG03139.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0067 a0001c0001t0068 others(1): Show a0001c0001t0024 a0001c0001t0067 a0001c0001t0068 a0001c0001t0155	a0001c0001t0024g0184 a0001c0001t0067g0053 a0001c0001t0068g0004 others(1): Show a0001c0001t0024g0184 a0001c0001t0067g0053 a0001c0001t0068g0004 a0001c0001t0155g0142	4	244	0.0164	21	c.502 others(40): Show c.502+17233_502+17234insAAAAAAAAAAAAAAAAAAAAA	NRG1	ENSG00000157168.22	transcript	ENST00000405005.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
NRG3_chr10_81870194_82992178	82442784	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03139.hp1 HG02809.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0005g0023 a0001c0002t0002g0032 a0001c0001t0005g0023 a0001c0002t0002g0032	2	66	0.0303	21	c.953 others(40): Show c.953+83927_953+83947dupTTTTTTTTTTTTTTTTTTTTT	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRP1_chr10_33172493_33339667	33188910	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0048 a0001c0002t0004g0048	1	262	0.0038	21	c.206 others(40): Show c.2063-2423_2063-2422insATATATATATATATATATATA	NRP1	ENSG00000099250.18	transcript	ENST00000374867.7	protein_coding	13/16			chr10	TogoVar
NRP1_chr10_33172493_33339667	33199389	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18993.hp1 NA19060.hp2 NA18983.hp2 NA18993.hp1 NA19060.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0003 a0001c0005t0022 a0001c0003t0003 a0001c0005t0022	a0001c0003t0003g0038 a0001c0003t0003g0152 a0001c0005t0022g0139 a0001c0003t0003g0038 a0001c0003t0003g0152 a0001c0005t0022g0139	3	262	0.0115	21	c.186 others(40): Show c.1865-1681_1865-1680insATATATATATATATATATATA	NRP1	ENSG00000099250.18	transcript	ENST00000374867.7	protein_coding	11/16			chr10	TogoVar
NRP1_chr10_33172493_33339667	33199389	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0076 a0001c0005t0003g0076	1	262	0.0038	21	c.186 others(40): Show c.1865-1681_1865-1680insAAAAATATATATATATATATA	NRP1	ENSG00000099250.18	transcript	ENST00000374867.7	protein_coding	11/16			chr10	TogoVar
NRP1_chr10_33172493_33339667	33199390	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA18955.hp1 HG00741.hp1 NA18955.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0117 a0001c0003t0003g0188 a0001c0003t0003g0117 a0001c0003t0003g0188	2	262	0.0076	21	c.186 others(40): Show c.1865-1682_1865-1681insTATATATATATATATATATAT	NRP1	ENSG00000099250.18	transcript	ENST00000374867.7	protein_coding	11/16			chr10	TogoVar
NRSN1_chr6_24121215_24152530	24126152	A A	AGGCGGCG others(14): Show AGGCGGCGGCGGCGGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	406	0.0025	21	c.-27 others(30): Show c.-271_-270insGGCGGCGGCGGCGGCGGCGGC	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding		62		chr6	TogoVar
NRXN1_chr2_49913503_51037132	49944787	T T	TAGAATTG others(14): Show TAGAATTGTTCAAACAATTCTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02896.hp1 HG01884.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0051 a0001c0001t0002 a0001c0003t0051	a0001c0001t0002g0035 a0001c0003t0051g0034 a0001c0001t0002g0035 a0001c0003t0051g0034	2	116	0.0172	21	c.412 others(39): Show c.4129-1017_4129-997dupGAGAATTGTTTGAACAATTCT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	21/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50107539	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	116	0.0086	21	c.354 others(42): Show c.3547-16046_3547-16045insAAATATATATATATATATATA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	18/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50296518	C C	CTATTAGT others(14): Show CTATTAGTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18950.hp1 NA19240.hp2 HG02970.hp2 NA18950.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0048 a0001c0002t0049 a0001c0005t0030 a0001c0002t0048 a0001c0002t0049 a0001c0005t0030	a0001c0002t0048g0109 a0001c0002t0049g0082 a0001c0005t0030g0016 a0001c0002t0048g0109 a0001c0002t0049g0082 a0001c0005t0030g0016	3	116	0.0259	21	c.336 others(42): Show c.3365-59549_3365-59548insATAATAATAATAATACTAATA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50296518	C C	CTATTATT others(14): Show CTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0108 a0001c0002t0006g0108	1	116	0.0086	21	c.336 others(42): Show c.3365-59549_3365-59548insATAATAATAATAATAATAATA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373657	A A	AGAAAGAA others(14): Show AGAAAGAAAGAAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	116	0.0086	21	c.336 others(42): Show c.3364+91784_3364+91785insCTTCTTTCTTTTCTTTCTTTC	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50424295	A A	AAGGAGGA others(14): Show AAGGAGGAGGAGGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01175.hp1 HG01346.hp1 others(23): Show HG01099.hp2 HG01175.hp1 HG01346.hp1 HG01433.hp2 HG02055.hp1 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02300.hp1 HG02559.hp2 HG02717.hp1 HG02886.hp1 HG02922.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 NA18948.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0005c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(19): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0013 a0001c0001t0019 a0001c0001t0028 a0001c0001t0035 a0001c0001t0052 a0001c0001t0059 a0001c0001t0061 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0045 a0001c0002t0048 a0001c0002t0049 a0001c0003t0026 a0001c0004t0038 a0001c0005t0012 a0001c0008t0016 a0005c0013t0001	a0001c0001t0001g0040 a0001c0001t0004g0010 a0001c0001t0009g0051 others(23): Show a0001c0001t0001g0040 a0001c0001t0004g0010 a0001c0001t0009g0051 a0001c0001t0013g0081 a0001c0001t0019g0075 a0001c0001t0028g0008 a0001c0001t0035g0061 a0001c0001t0052g0043 a0001c0001t0059g0060 a0001c0001t0061g0074 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0112 a0001c0002t0003g0079 a0001c0002t0003g0099 a0001c0002t0005g0077 a0001c0002t0005g0083 a0001c0002t0006g0108 a0001c0002t0045g0087 a0001c0002t0048g0109 a0001c0002t0049g0082 a0001c0003t0026g0006 a0001c0004t0038g0085 a0001c0005t0012g0002 a0001c0008t0016g0048 a0005c0013t0001g0111	26	116	0.2241	21	c.336 others(42): Show c.3364+41126_3364+41146dupCCTCCCCCTCCTCCTCCTCCT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50551044	G G	GGAAGAAG others(14): Show GGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0057 a0001c0001t0008g0057	1	116	0.0086	21	c.175 others(40): Show c.1759+1542_1759+1543insTTCTTCTTCTTCTTCTTCTTC	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	9/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50551050	G G	GGAAGAAG others(14): Show GGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03225.hp2 NA19030.hp2 HG02109.hp1 HG03225.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0035 a0001c0001t0044 a0001c0003t0014 a0001c0001t0035 a0001c0001t0044 a0001c0003t0014	a0001c0001t0035g0061 a0001c0001t0044g0058 a0001c0003t0014g0042 a0001c0001t0035g0061 a0001c0001t0044g0058 a0001c0003t0014g0042	3	116	0.0259	21	c.175 others(40): Show c.1759+1516_1759+1536dupTTCTTCTTCTTCTTCTTCTTC	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	9/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50658439	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01169.hp1 HG01934.hp2 HG01099.hp1 HG01169.hp1 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0017 a0001c0001t0027 a0001c0001t0009 a0001c0001t0017 a0001c0001t0027	a0001c0001t0009g0030 a0001c0001t0017g0065 a0001c0001t0027g0009 a0001c0001t0009g0030 a0001c0001t0017g0065 a0001c0001t0027g0009	3	116	0.0259	21	c.833 others(40): Show c.833-34825_833-34824insCACACACACACACACACACAC	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02258.hp2 HG01517.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0046 a0001c0001t0011g0115 a0001c0001t0005g0046 a0001c0001t0011g0115	2	116	0.0172	21	c.833 others(40): Show c.833-60032_833-60031insATATATTTTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0042 a0001c0003t0014g0042	1	116	0.0086	21	c.833 others(40): Show c.833-60032_833-60031insATATATATTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0102 a0001c0002t0047g0102	1	116	0.0086	21	c.833 others(40): Show c.833-60032_833-60031insATATATATATTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50829999	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	116	0.0086	21	c.832 others(40): Show c.832+91849_832+91869dupTTTTTTTTTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN3_chr14_78165373_79873291	79262346	T T	TGAGGAAG others(14): Show TGAGGAAGAAAAAGAAGGATAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03225.hp1 NA19043.hp1 others(1): Show HG01081.hp1 HG03225.hp1 NA19043.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0005 a0001c0002 a0001c0004 a0002c0005	a0001c0002t0007 a0001c0002t0015 a0001c0004t0005 others(1): Show a0001c0002t0007 a0001c0002t0015 a0001c0004t0005 a0002c0005t0005	a0001c0002t0007g0009 a0001c0002t0015g0011 a0001c0004t0005g0003 others(1): Show a0001c0002t0007g0009 a0001c0002t0015g0011 a0001c0004t0005g0003 a0002c0005t0005g0002	4	24	0.1667	21	c.326 others(44): Show c.3263-204860_3263-204840dupAGGATAAGAGGAAGAAAAAGA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79637729	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0015 a0001c0003t0004g0015	1	24	0.0417	21	c.344 others(42): Show c.3445-26031_3445-26030insTTTTTTTTTTTTTTTTTTTTT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79702889	G G	GTCTTTTA others(14): Show GTCTTTTACCACTAAAGTGTAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01243.hp1 others(12): Show HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01884.hp1 HG01884.hp2 HG02257.hp2 HG02922.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 NA19043.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0002c0005	a0001c0001t0003 a0001c0001t0008 a0001c0001t0014 others(12): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0014 a0001c0002t0007 a0001c0002t0011 a0001c0002t0015 a0001c0003t0004 a0001c0003t0009 a0001c0003t0012 a0001c0006t0017 a0001c0007t0002 a0001c0008t0004 a0001c0009t0003 a0001c0010t0001 a0002c0005t0016	a0001c0001t0003g0013 a0001c0001t0008g0008 a0001c0001t0014g0004 others(12): Show a0001c0001t0003g0013 a0001c0001t0008g0008 a0001c0001t0014g0004 a0001c0002t0007g0009 a0001c0002t0011g0016 a0001c0002t0015g0011 a0001c0003t0004g0015 a0001c0003t0009g0024 a0001c0003t0012g0019 a0001c0006t0017g0001 a0001c0007t0002g0020 a0001c0008t0004g0014 a0001c0009t0003g0017 a0001c0010t0001g0012 a0002c0005t0016g0022	15	24	0.6250	21	c.401 others(40): Show c.4014+4961_4014+4962insACTAAAGTGTATTCTTTTACC	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSD1_chr5_177128773_177305213	177158293	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0187 a0001c0001t0004g0187	1	298	0.0034	21	c.927 others(40): Show c.927+22274_927+22275insCTTTCTTTCTTTTCTTTCTTT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177158999	T T	TATATATA others(14): Show TATATATATATATATATGAATG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03516.hp1 HG02145.hp2 HG03516.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0011c0034 a0002c0002 a0011c0034	a0002c0002t0022 a0011c0034t0011 a0002c0002t0022 a0011c0034t0011	a0002c0002t0022g0087 a0011c0034t0011g0109 a0002c0002t0022g0087 a0011c0034t0011g0109	2	298	0.0067	21	c.927 others(40): Show c.927+22985_927+22986insGAATGATATATATATATATAT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177159001	T T	TATATATA others(14): Show TATATATATATATATATGAATG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0077 a0001c0003t0077	a0001c0003t0077g0108 a0001c0003t0077g0108	1	298	0.0034	21	c.927 others(40): Show c.927+22987_927+22988insGAATGATATATATATATATAT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177207593	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0112 a0001c0003t0007g0112	1	298	0.0034	21	c.123 others(40): Show c.1237-2034_1237-2014dupTTTTTTTTTTTTTTTTTTTTT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177264028	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0161 a0001c0001t0012g0161	1	298	0.0034	21	c.514 others(40): Show c.5147-3528_5147-3508dupTTTTTTTTTTTTTTTTTTTTT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSG1_chr4_4382102_4424058	4411784	A A	ACAACACA others(14): Show ACAACACAACACAACACAAAAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0137 a0001c0001t0005g0137	1	394	0.0025	21	c.357 others(38): Show c.357+2101_357+2102insCAACACAACACAACACAAAAC	NSG1	ENSG00000168824.15	transcript	ENST00000621129.5	protein_coding	4/4			chr4	TogoVar
NSL1_chr1_212721153_212796777	212754769	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0120 a0002c0002t0025g0120	1	364	0.0028	21	c.500 others(40): Show c.500-15169_500-15168insTTTTTTTTTTTTTTTTTTTTT	NSL1	ENSG00000117697.15	transcript	ENST00000366977.8	protein_coding	4/5			chr1	TogoVar
NSRP1_chr17_30111816_30191475	30122349	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0147	1	282	0.0036	21	c.114 others(38): Show c.114+4176_114+4177insGTGTGTGTGTGTATATATATA	NSRP1	ENSG00000126653.18	transcript	ENST00000247026.10	protein_coding	2/6			chr17	TogoVar
NSUN2_chr5_6594239_6638044	6611448	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0323 a0001c0001t0004g0323	1	438	0.0023	21	c.109 others(38): Show c.1095+276_1095+277insTTTTTTTTTTTTTTTTTTTTT	NSUN2	ENSG00000037474.15	transcript	ENST00000264670.11	protein_coding	10/18			chr5	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0147 a0003c0003t0006g0147	1	388	0.0026	21	c.754 others(36): Show c.754-454_754-453insAAAAAAAAAAAAATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02735.hp1 HG02698.hp2 HG02735.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0031 a0003c0003t0006 a0003c0003t0031	a0003c0003t0006g0080 a0003c0003t0031g0158 a0003c0003t0006g0080 a0003c0003t0031g0158	2	388	0.0052	21	c.754 others(36): Show c.754-454_754-453insAAAAAAAAAAATATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03654.hp1 NA20905.hp1 HG01256.hp2 HG03654.hp1 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0081 a0003c0003t0006g0154 a0003c0003t0006g0156 a0003c0003t0006g0081 a0003c0003t0006g0154 a0003c0003t0006g0156	3	388	0.0077	21	c.754 others(36): Show c.754-454_754-453insAAAAAAAAATATATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN6_chr10_18540561_18656587	18561911	A A	AAATGGAG others(14): Show AAATGGAGAATGGAATGAATGG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0215 a0001c0001t0004g0215	1	346	0.0029	21	c.923 others(38): Show c.923-9961_923-9941dupCCATTCATTCCATTCTCCATT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	8/10			chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0321 a0001c0001t0006g0321	1	346	0.0029	21	c.658 others(38): Show c.658-4615_658-4614insATATATATATATATTTTTTTT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar

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