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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NAV3_chr12_77825894_78218010	78142679	ATGTGTAT others(47): Show ATGTGTATATATATACATATGTATGTGTATATATATACATATATATGTGT GTGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp1 HG02809.hp2 others(1): Show HG01884.hp2 HG02630.hp1 HG02809.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0016 a0001c0018 a0001c0004 a0001c0016 a0001c0018	a0001c0004t0057 a0001c0016t0041 a0001c0016t0047 others(1): Show a0001c0004t0057 a0001c0016t0041 a0001c0016t0047 a0001c0018t0025	a0001c0004t0057g0152 a0001c0016t0041g0011 a0001c0016t0047g0147 others(1): Show a0001c0004t0057g0152 a0001c0016t0041g0011 a0001c0016t0047g0147 a0001c0018t0025g0034	4	186	0.0215	-54	c.468 others(73): Show c.4683+2360_4683+2413delCATATGTATGTGTATATATATACATA TATATGTGTGTGTGTGTGTATATATATA		NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	20/39					INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD4L_chr18_58039226_58406539	58345714	AAGTTTGG others(47): Show AAGTTTGGCCTCATTCTCTTTTTTTTAATTATTATTTTTTTTGTTTTTGA GACGG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0003 a0001c0001t0009g0003	1	118	0.0085	-54	c.157 others(73): Show c.1575+2615_1575+2668delTTGGCCTCATTCTCTTTTTTTTAATT ATTATTTTTTTTGTTTTTGAGACGGAGT		NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	16/30					INFO_REALIGN_3_PRIME	chr18	TogoVar
NEXN_chr1_77883624_77948895	77887912	TTTCTTCT others(47): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	268	0.0037	-54	c.-89 others(63): Show c.-899_-846delTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTC		NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding					711		chr1	TogoVar
NFATC1_chr18_79390930_79534323	79488249	GGTGTGTG others(47): Show GGTGTGTGTGTGTTTGCGGTAGTGTGTCCCATGGAGCCCGCAGCCCTGGT TGTGT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02293.hp1 HG02559.hp1 others(18): Show HG01891.hp2 HG02293.hp1 HG02559.hp1 HG02572.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03516.hp1 HG06807.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0010 a0001c0013 others(2): Show a0001c0005 a0001c0010 a0001c0013 a0001c0025 a0001c0037	a0001c0005t0004 a0001c0005t0005 a0001c0005t0009 others(10): Show a0001c0005t0004 a0001c0005t0005 a0001c0005t0009 a0001c0005t0011 a0001c0005t0016 a0001c0005t0035 a0001c0010t0028 a0001c0013t0005 a0001c0013t0007 a0001c0013t0025 a0001c0013t0056 a0001c0025t0018 a0001c0037t0054	a0001c0005t0004g0058 a0001c0005t0005g0055 a0001c0005t0005g0056 others(18): Show a0001c0005t0004g0058 a0001c0005t0005g0055 a0001c0005t0005g0056 a0001c0005t0005g0083 a0001c0005t0005g0111 a0001c0005t0005g0320 a0001c0005t0009g0133 a0001c0005t0011g0135 a0001c0005t0011g0136 a0001c0005t0011g0139 a0001c0005t0016g0147 a0001c0005t0035g0276 a0001c0010t0028g0079 a0001c0013t0005g0114 a0001c0013t0005g0310 a0001c0013t0007g0112 a0001c0013t0007g0113 a0001c0013t0025g0046 a0001c0013t0056g0110 a0001c0025t0018g0082 a0001c0037t0054g0312	21	322	0.0652	-54	c.278 others(73): Show c.2782+1325_2782+1378delTTGCGGTAGTGTGTCCCATGGAGCCC GCAGCCCTGGTTGTGTGTGTGTGTGTGT		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79505306	AGGCCCTT others(47): Show AGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTG ATGCT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0004 a0001c0017t0004	a0001c0017t0004g0303 a0001c0017t0004g0303	1	322	0.0031	-54	c.278 others(75): Show c.2782+18372_2782+18425delCCCTTGGGTGAGGGAAGAGGCAGG AGACTGCTGCGTGGGAGGAGGTGATGCTGG		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC4_chr14_24363184_24384601	24383333	AACTTCAT others(47): Show AACTTCATAACCTTCCCTTGGAAGGAACTGTCACCTCCACCATACCCTAT TAATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0001 a0002c0003t0002g0001	1	394	0.0025	-54	c.56 others(65): Show c.5629_*5682delACTTCATAACCTTCCCTTGGAAGGAACTGTCACC TCCACCATACCCTATTAATC		NFATC4	ENSG00000100968.14	transcript	ENST00000250373.9	protein_coding					3733		chr14	TogoVar
NFIC_chr19_3361583_3474217	3370626	CTCCTTCT others(47): Show CTCCTTCTCTCTTCTCTCTCTCTTTCTCCCTCCCTACCTCCCTCTCTGTT CCTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0239 a0001c0001t0239	a0001c0001t0239g0068 a0001c0001t0239g0068	1	300	0.0033	-54	c.30+ others(69): Show c.30+3963_30+4016delCTTCTCTCTTCTCTCTCTCTTTCTCCCTCC CTACCTCCCTCTCTGTTCCTCTTC		NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr19	TogoVar
NGB_chr14_77260483_77276206	77269748	TCTCTCTC others(47): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCCCTCTCCC CCCCC	T T	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0009 a0009	a0009c0005 a0009c0005	a0009c0005t0001 a0009c0005t0001	a0009c0005t0001g0228 a0009c0005t0001g0228	1	366	0.0027	-54	c.90- others(67): Show c.90-476_90-423delGGGGGGGGAGAGGGAGAGGGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAG		NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3						chr14	TogoVar
NGB_chr14_77260483_77276206	77269750	TCTCTCTC others(47): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCCCTCTCCCCC CCCCC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	366	0.0027	-54	c.90- others(67): Show c.90-478_90-425delGGGGGGGGGGAGAGGGAGAGGGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAG		NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3						chr14	TogoVar
NID1_chr1_235970830_236070090	236003160	TGGTAGTT others(47): Show TGGTAGTTGTCACTCCTAGTGAACGACTGGTAGTTGTCACTCCTAGTGAA CGACC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03139.hp1 HG03486.hp1 HG02145.hp1 HG03139.hp1 HG03486.hp1	a0004 a0033 a0004 a0033	a0004c0005 a0033c0058 a0004c0005 a0033c0058	a0004c0005t0002 a0033c0058t0017 a0004c0005t0002 a0033c0058t0017	a0004c0005t0002g0036 a0004c0005t0002g0285 a0033c0058t0017g0100 a0004c0005t0002g0036 a0004c0005t0002g0285 a0033c0058t0017g0100	3	334	0.0090	-54	c.252 others(73): Show c.2527+8707_2527+8760delGGTCGTTCACTAGGAGTGACAACTAC CAGTCGTTCACTAGGAGTGACAACTACC		NID1	ENSG00000116962.15	transcript	ENST00000264187.7	protein_coding	12/19						chr1	TogoVar
NKAIN2_chr6_123798865_124830640	123976258	TATATATG others(47): Show TATATATGTTTCCATATATATGTTTCCATATATATGTTTCCATATATATG TTTCC	T T	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	66	0.0152	-54	c.54+ others(73): Show c.54+172011_54+172064delGTTTCCATATATATGTTTCCATATAT ATGTTTCCATATATATGTTTCCATATAT		NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	123976330	CATATATA others(47): Show CATATATATATATGTTCCCATATATATATATATATATATTCCCATATATA TATAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03579.hp2 HG02109.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0003 a0001c0002t0005g0020 a0001c0001t0001g0003 a0001c0002t0005g0020	2	66	0.0303	-54	c.54+ others(73): Show c.54+172089_54+172142delGTTCCCATATATATATATATATATAT TCCCATATATATATATATATATATATAT		NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN4_chr20_63235784_63259463	63242789	GGGGGGTG others(47): Show GGGGGGTGGGACACCCGGGTCCTCGGCCTGTGCGGGGACGGCATCGGGGG ACAGT	G G	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	354	0.0028	-54	c.533 others(69): Show c.533-220_533-167delACTGTCCCCCGATGCCGTCCCCGCACAGGC CGAGGACCCGGGTGTCCCACCCCC		NKAIN4	ENSG00000101198.15	transcript	ENST00000370316.8	protein_coding	5/6						chr20	TogoVar
NLGN4X_chrX_5885042_6233867	6021039	TCTCTCTC others(47): Show TCTCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTC TCTCC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03139.hp1 HG02897.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0018 a0001c0001t0002g0019	2	128	0.0156	-54	c.625 others(71): Show c.625+8187_625+8240delGGAGAGAGAGAGAGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGAGAGAG		NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	3/5						chrX	TogoVar
NLK_chr17_28037677_28201381	28172116	CAGGAATT others(47): Show CAGGAATTTATTTAAATTCCTTTACATGAGGAATTTATTTAAATTCCTTT ACATG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	108	0.0093	-54	c.104 others(71): Show c.1048-306_1048-253delAATTCCTTTACATGAGGAATTTATTTAA ATTCCTTTACATGAGGAATTTATTTA		NLK	ENSG00000087095.13	transcript	ENST00000407008.8	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
NME8_chr7_37843597_37905397	37848191	AGAAGAAG others(47): Show AGAAGAAGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG01069.hp1 others(16): Show HG00423.hp1 HG00609.hp2 HG01069.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01934.hp2 HG02273.hp1 HG02300.hp1 HG03654.hp2 HG03669.hp2 NA18957.hp2 NA18968.hp1 NA18971.hp1 NA19004.hp1 NA19006.hp2 NA19081.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0004c0005	a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 a0001c0007t0001 a0001c0007t0003 a0004c0005t0001 a0004c0005t0003	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 others(14): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0040 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0058 a0001c0001t0003g0062 a0001c0001t0003g0085 a0001c0004t0003g0069 a0001c0004t0003g0100 a0001c0007t0001g0067 a0001c0007t0003g0097 a0004c0005t0001g0008 a0004c0005t0001g0043 a0004c0005t0001g0071 a0004c0005t0003g0099	19	388	0.0490	-54	c.-77 others(63): Show c.-777_-724delGAAGAAGAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					405		chr7	TogoVar
NMNAT2_chr1_183243237_183423380	183389798	AAGAAAGA others(47): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAA AAAAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02523.hp1 NA18946.hp1 others(1): Show HG01070.hp1 HG02523.hp1 NA18946.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0060	a0001c0001t0001g0045 a0001c0001t0002g0049 a0001c0001t0007g0069 others(1): Show a0001c0001t0001g0045 a0001c0001t0002g0049 a0001c0001t0007g0069 a0001c0001t0060g0048	4	258	0.0155	-54	c.85+ others(71): Show c.85+28331_85+28384delCTTTTTTCCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCT		NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10						chr1	TogoVar
NOL4L_chr20_32438059_32590333	32488770	CCTTCCTT others(47): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTTTCTTTCTTTCTT TCTTT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0129 a0001c0001t0004g0129	1	196	0.0051	-54	c.700 others(73): Show c.700-14082_700-14029delAAAGAAAGAAAGAAAGAAAAAGAAAG AAAGAAAGGAAGGAAGGAAGGAAGGAAG		NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10						chr20	TogoVar
NOXA1_chr9_137418393_137439406	137439134	CCAGCCCA others(47): Show CCAGCCCAAGGCTTCCCTAATCTGACTCTGCACCTTCTTAGCTGGTGCCA GATGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	404	0.0025	-54	c.47 others(65): Show c.4775_*4828delCAGCCCAAGGCTTCCCTAATCTGACTCTGCACCT TCTTAGCTGGTGCCAGATGG		NOXA1	ENSG00000188747.9	transcript	ENST00000683555.1	protein_coding					4729		chr9	TogoVar
NPHP4_chr1_5857811_5997425	5882166	ACTTACCC others(47): Show ACTTACCCAGCCATCTCTCAGTGGCGCGCTTACCCAGCCATCTCTCAGTG GCGCG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA21309.hp2 HG03710.hp1 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0003 a0008c0014 a0001c0003 a0008c0014	a0001c0003t0001 a0008c0014t0001 a0001c0003t0001 a0008c0014t0001	a0001c0003t0001g0133 a0008c0014t0001g0142 a0001c0003t0001g0133 a0008c0014t0001g0142	2	208	0.0096	-54	c.248 others(73): Show c.2486-1981_2486-1928delCGCGCCACTGAGAGATGGCTGGGTAA GCGCGCCACTGAGAGATGGCTGGGTAAG		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	18/29						chr1	TogoVar
NPTXR_chr22_38813452_38849028	38834073	CCCTGCTT others(47): Show CCCTGCTTCTTACCCAGAGCTTCATGAAGTGGTGTCTCTAATGCTTGAAT CTAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00639.hp2 HG01074.hp2 others(25): Show HG00423.hp2 HG00639.hp2 HG01074.hp2 HG01993.hp1 HG02071.hp1 HG02074.hp1 HG02135.hp2 HG02165.hp2 HG02717.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03516.hp2 HG03688.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp1 NA18747.hp2 NA18955.hp2 NA18959.hp2 NA18974.hp2 NA18988.hp1 NA18990.hp1 NA19056.hp2 NA19065.hp2 NA19066.hp1 NA19083.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0016 a0001c0002 a0001c0003 a0001c0016	a0001c0002t0004 a0001c0002t0013 a0001c0003t0002 others(6): Show a0001c0002t0004 a0001c0002t0013 a0001c0003t0002 a0001c0003t0004 a0001c0003t0026 a0001c0003t0034 a0001c0003t0042 a0001c0003t0044 a0001c0016t0013	a0001c0002t0004g0161 a0001c0002t0004g0173 a0001c0002t0004g0174 others(19): Show a0001c0002t0004g0161 a0001c0002t0004g0173 a0001c0002t0004g0174 a0001c0002t0004g0175 a0001c0002t0004g0176 a0001c0002t0013g0239 a0001c0003t0002g0046 a0001c0003t0002g0048 a0001c0003t0002g0050 a0001c0003t0002g0053 a0001c0003t0004g0005 a0001c0003t0004g0018 a0001c0003t0004g0045 a0001c0003t0004g0047 a0001c0003t0004g0049 a0001c0003t0004g0051 a0001c0003t0004g0052 a0001c0003t0026g0041 a0001c0003t0034g0044 a0001c0003t0042g0043 a0001c0003t0044g0251 a0001c0016t0013g0250	28	354	0.0791	-54	c.625 others(71): Show c.625-5615_625-5562delTTTAGATTCAAGCATTAGAGACACCACT TCATGAAGCTCTGGGTAAGAAGCAGG		NPTXR	ENSG00000221890.6	transcript	ENST00000333039.4	protein_coding	1/4						chr22	TogoVar
NR5A1_chr9_124476236_124512399	124502663	AGAGGTTA others(47): Show AGAGGTTAAGGATTTTGCCCAATGTCACCCAGCCTGACTGACAGTGCGGG CACTG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0009 a0004c0008t0009	a0004c0008t0009g0046 a0004c0008t0009g0046	1	356	0.0028	-54	c.244 others(69): Show c.244+362_244+415delCAGTGCCCGCACTGTCAGTCAGGCTGGGTG ACATTGGGCAAAATCCTTAACCTC		NR5A1	ENSG00000136931.10	transcript	ENST00000373588.9	protein_coding	3/6						chr9	TogoVar
NRXN3_chr14_78165373_79873291	79845688	CGGAGACG others(47): Show CGGAGACGGGGAGAGAGACGGAGACGGGGAGAGAGAGGGAGACGGGGAGA GAGAG	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0012 a0001c0010t0001g0012	1	24	0.0417	-54	c.409 others(75): Show c.4094-15636_4094-15583delCGGAGACGGGGAGAGAGAGGGAGA CGGGGAGAGAGAGGGAGACGGGGAGAGAGA		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NTM_chr11_131365615_132341822	131599273	AGCAGATG others(47): Show AGCAGATGCCCTGTCTACCCAGTCTCCGGCAGATGCCCTGTCTACCCAGT CTCCG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	86	0.0116	-54	c.82+ others(73): Show c.82+228445_82+228498delTGCCCTGTCTACCCAGTCTCCGGCAG ATGCCCTGTCTACCCAGTCTCCGGCAGA		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131873533	TGTGTGTA others(47): Show TGTGTGTATATATATACATATATATATACCGTATATATATACATATATAT ATACC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00741.hp2 HG01081.hp1 others(18): Show HG00558.hp1 HG00741.hp2 HG01081.hp1 HG01255.hp1 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01978.hp1 HG02055.hp1 HG02109.hp1 HG02735.hp2 HG02922.hp1 HG03098.hp2 HG03239.hp2 HG03710.hp1 HG04184.hp2 HG04228.hp2 NA18522.hp1 NA19240.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0012 a0002c0003t0006	a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0036 others(18): Show a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0058 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0067 a0001c0001t0003g0032 a0001c0001t0003g0061 a0001c0001t0004g0009 a0001c0001t0007g0007 a0001c0001t0007g0021 a0001c0001t0007g0059 a0001c0002t0001g0075 a0001c0002t0002g0065 a0001c0002t0005g0026 a0001c0002t0012g0068 a0002c0003t0006g0071	21	86	0.2442	-54	c.83- others(71): Show c.83-38028_83-37975delGTGTATATATATACATATATATATACCG TATATATATACATATATATATACCGT		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN3_chr16_2466297_2479145	2471842	CGCCCTGG others(47): Show CGCCCTGGGCCGCGAGGTGCTGGCTTCCAGCACGTGCGGGCGGCCGGCCA CTCGG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA20752.hp1 NA20752.hp1	a0017 a0017	a0017c0022 a0017c0022	a0017c0022t0001 a0017c0022t0001	a0017c0022t0001g0001 a0017c0022t0001g0001	1	300	0.0033	-54	c.145 others(61): Show c.145_198delCTGGGCCGCGAGGTGCTGGCTTCCAGCACGTGCGGGCG GCCGGCCACTCGGGCC	p.Leu others(11): Show p.Leu49_Ala66del	NTN3	ENSG00000162068.2	transcript	ENST00000293973.2	protein_coding	1/6	550/2188	145/1743	49/580		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	CCTTCCTT others(47): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0250 a0001c0001t0250	a0001c0001t0250g0058 a0001c0001t0250g0058	1	368	0.0027	-54	c.20 others(65): Show c.2066_*2119delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGGAAGGAAG		NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3				2402		chr16	TogoVar
NWD1_chr19_16714847_16822953	16769698	ACTTTGGA others(47): Show ACTTTGGAGCTCAGCTAAATGCGATTCCTCAGAGAAGCCTTGTCTGGCCA CCACT	A A	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0024 a0003c0003t0024	a0003c0003t0024g0087 a0003c0003t0024g0087	1	300	0.0033	-54	c.241 others(73): Show c.2411-3427_2411-3374delCTTTGGAGCTCAGCTAAATGCGATTC CTCAGAGAAGCCTTGTCTGGCCACCACT		NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	10/18						chr19	TogoVar
NXF2B_chrX_102355395_102445008	102412477	AAAGAAGA others(47): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	54	0.0185	-54	c.-54 others(73): Show c.-54+26022_-54+26075delCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTT		NXF2B	ENSG00000269437.8	transcript	ENST00000602195.6	protein_coding	2/22						chrX	TogoVar
NXN_chr17_794310_984776	809981	CTGTGAGT others(47): Show CTGTGAGTGGCGTGTACGTTACGAGTCTGTGAGTGGCGTGCACGTTAAGA GTCCG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01258.hp1 HG01346.hp2 others(2): Show HG01099.hp2 HG01258.hp1 HG01346.hp2 HG03831.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014	a0001c0001t0001g0135 a0001c0001t0003g0181 a0001c0001t0005g0108 others(2): Show a0001c0001t0001g0135 a0001c0001t0003g0181 a0001c0001t0005g0108 a0001c0001t0014g0109 a0001c0001t0014g0113	5	242	0.0207	-54	c.821 others(71): Show c.821-4788_821-4735delCGGACTCTTAACGTGCACGCCACTCACA GACTCGTAACGTACACGCCACTCACA		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7						chr17	TogoVar
ODF3_chr11_191761_205258	196521	ACCTGGTG others(47): Show ACCTGGTGAGGAGGACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGA GGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp2 others(131): Show HG00099.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01515.hp2 HG01517.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02145.hp1 HG02273.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18952.hp2 NA18953.hp2 NA18957.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18972.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0002 a0003c0004 a0009c0008 a0001c0002 a0003c0004 a0009c0008	a0001c0002t0001 a0001c0002t0006 a0003c0004t0001 others(1): Show a0001c0002t0001 a0001c0002t0006 a0003c0004t0001 a0009c0008t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(7): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0006g0021 a0003c0004t0001g0003 a0009c0008t0001g0002	134	388	0.3454	-54	c.-53 others(63): Show c.-533_-480delCCTGGTGAGGAGGACATGGGTGGGGAGCCTTGGTGA GGGGACCTGGTGAGGAGG		ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding					239		chr11	TogoVar
OGFR_chr20_62799835_62819000	62804921	AGGACGAG others(47): Show AGGACGAGGACTGCGAGGACGGCGAGGCCGCCGGCGCGAGGGACGCGGAC GCAGG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00423.hp1 HG00423.hp1	a0022 a0022	a0022c0031 a0022c0031	a0022c0031t0002 a0022c0031t0002	a0022c0031t0002g0004 a0022c0031t0002g0004	1	422	0.0024	-54	c.73_ others(60): Show c.73_126delTGCGAGGACGGCGAGGCCGCCGGCGCGAGGGACGCGGAC GCAGGGGACGAGGAC	p.Cys others(11): Show p.Cys25_Asp42del	OGFR	ENSG00000060491.17	transcript	ENST00000290291.10	protein_coding	1/7	98/2410	73/2034	25/677		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPCML_chr11_132409981_133537501	132498734	TGTTTTAA others(47): Show TGTTTTAAAATATGGCTCTTAGGCATATAGGACCCGAAGAACCCAAGTCC TGATG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp2 HG02451.hp1 others(7): Show HG01109.hp2 HG02258.hp2 HG02451.hp1 HG02647.hp2 HG02809.hp1 HG02965.hp2 HG03098.hp1 HG03225.hp2 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0021 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032	a0001c0001t0001g0013 a0001c0001t0003g0044 a0001c0001t0007g0029 others(7): Show a0001c0001t0001g0013 a0001c0001t0003g0044 a0001c0001t0007g0029 a0001c0001t0007g0040 a0001c0001t0010g0066 a0001c0001t0012g0068 a0001c0001t0021g0036 a0001c0001t0029g0058 a0001c0001t0031g0062 a0001c0001t0032g0065	10	68	0.1471	-54	c.505 others(73): Show c.505+30273_505+30326delCATCAGGACTTGGGTTCTTCGGGTCC TATATGCCTAAGAGCCATATTTTAAAAC		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	4/7						chr11	TogoVar
OPCML_chr11_132409981_133537501	133140889	CGACGAAG others(47): Show CGACGAAGACGACGACGACGAAGAAGAAGAAGACGACGACGACGAAGAAG AAGAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01255.hp1 others(14): Show HG00642.hp1 HG00642.hp2 HG01255.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01978.hp1 HG01978.hp2 HG02145.hp1 HG02451.hp2 HG02630.hp1 HG03130.hp1 HG03209.hp2 HG03516.hp1 HG04115.hp1 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0022 a0001c0001t0030	a0001c0001t0001g0011 a0001c0001t0001g0028 a0001c0001t0001g0035 others(14): Show a0001c0001t0001g0011 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0019 a0001c0001t0003g0016 a0001c0001t0003g0024 a0001c0001t0005g0023 a0001c0001t0009g0060 a0001c0001t0010g0061 a0001c0001t0013g0041 a0001c0001t0015g0043 a0001c0001t0017g0052 a0001c0001t0022g0014 a0001c0001t0030g0067	17	68	0.2500	-54	c.62- others(73): Show c.62-197933_62-197880delTTCTTCTTCTTCGTCGTCGTCGTCTT CTTCTTCTTCGTCGTCGTCGTCTTCGTC		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OPCML_chr11_132409981_133537501	133140994	AGAAGACG others(47): Show AGAAGACGACGACGACGACGACGACGACGACGACGACGACGACGACGACG ACGAC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01071.hp1 HG01109.hp1 others(5): Show HG00642.hp1 HG01071.hp1 HG01109.hp1 HG01516.hp1 HG02630.hp1 HG02976.hp1 HG02976.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0023	a0001c0001t0001g0015 a0001c0001t0001g0047 a0001c0001t0002g0003 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0047 a0001c0001t0002g0003 a0001c0001t0003g0024 a0001c0001t0004g0018 a0001c0001t0005g0020 a0001c0001t0011g0057 a0001c0001t0023g0039	8	68	0.1177	-54	c.62- others(73): Show c.62-198038_62-197985delGTCGTCGTCGTCGTCGTCGTCGTCGT CGTCGTCGTCGTCGTCGTCGTCGTCTTC		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OPCML_chr11_132409981_133537501	133458714	TGTGTGTA others(47): Show TGTGTGTATATATACACATAGATGCACGTGTGTGTATATATACACATAGA TGCAC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	68	0.0147	-54	c.61+ others(71): Show c.61+73496_61+73549delGTGCATCTATGTGTATATATACACACAC GTGCATCTATGTGTATATATACACAC		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OR6J1_chr14_22625929_22649352	22636225	GCCCTCTC others(47): Show GCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCT	G G	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0055 a0002c0002t0002g0055	1	362	0.0028	-54	c.-27 others(71): Show c.-27-1441_-27-1388delAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGG		OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1						chr14	TogoVar
OSBPL10_chr3_31655825_31986262	31812764	AAGAAAGA others(47): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01192.hp1 HG03834.hp2 others(4): Show HG00408.hp2 HG01192.hp1 HG03834.hp2 NA18966.hp1 NA19011.hp1 NA19063.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0003c0013 a0007c0035	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0005t0002 a0003c0013t0002 a0007c0035t0001	a0001c0001t0001g0087 a0001c0002t0001g0064 a0001c0002t0001g0132 others(4): Show a0001c0001t0001g0087 a0001c0002t0001g0064 a0001c0002t0001g0132 a0002c0003t0001g0078 a0002c0005t0002g0029 a0003c0013t0002g0012 a0007c0035t0001g0103	7	186	0.0376	-54	c.729 others(73): Show c.729+17222_729+17275delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCT		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11						chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31812793	AGAAAGAA others(47): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAA AGAAC	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02976.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0070 a0001c0001t0001g0098 a0001c0001t0001g0099	3	186	0.0161	-54	c.729 others(73): Show c.729+17193_729+17246delGTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTTTCTTTCTTTCTTTCTTTCTTTC		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11						chr3	TogoVar
OSTC_chr4_108645599_108672820	108663812	GCACTGAG others(47): Show GCACTGAGTGATTATTGAAAGAATGGCCTTAAAGATTAAATAGAAGGTCC TTCAT	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	372	0.0027	-54	c.432 others(71): Show c.432-3434_432-3381delCACTGAGTGATTATTGAAAGAATGGCCT TAAAGATTAAATAGAAGGTCCTTCAT		OSTC	ENSG00000198856.13	transcript	ENST00000361564.9	protein_coding	3/3						chr4	TogoVar
OVCH1_chr12_29434853_29502686	29497370	TCCTTAGT others(47): Show TCCTTAGTACACACATGATTAGCAGGTGTGCCTACAAACGAACTCTAAAA TGCAA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0007 a0005c0006t0007	a0005c0006t0007g0238 a0005c0006t0007g0238	1	400	0.0025	-54	c.64+ others(67): Show c.64+199_64+252delTTGCATTTTAGAGTTCGTTTGTAGGCACACCT GCTAATCATGTGTGTACTAAGG		OVCH1	ENSG00000187950.9	transcript	ENST00000537054.2	protein_coding	1/25						chr12	TogoVar
PACRG_chr6_162722974_163320500	163277631	ATACGTGT others(47): Show ATACGTGTATATATATGTATATGTGTGTGTGTGTATATATATCTGTATCT ATATC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03209.hp2 HG03516.hp1 others(1): Show HG02615.hp2 HG03209.hp2 HG03516.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 a0001c0001t0001 a0001c0001t0003 a0001c0003t0003	a0001c0001t0001g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(1): Show a0001c0001t0001g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0003t0003g0061	4	130	0.0308	-54	c.614 others(73): Show c.614-37193_614-37140delCGTGTATATATATGTATATGTGTGTG TGTGTATATATATCTGTATCTATATCTA		PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
PADI4_chr1_17303197_17369004	17351951	GTGGGAGG others(47): Show GTGGGAGGAGAGGCGGCCAGGGAGGTGATGGGAGGAGAGGCAGTCAGGGA GGTGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00438.hp2 others(27): Show HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG01123.hp1 HG01168.hp2 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG02698.hp1 HG03017.hp2 HG03491.hp1 HG03491.hp2 NA18941.hp1 NA18950.hp1 NA18964.hp2 NA18971.hp1 NA18982.hp2 NA19005.hp2 NA19011.hp2 NA19057.hp1 NA19058.hp2 NA19070.hp2 NA19076.hp1 NA19087.hp2 NA19088.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0024	a0001c0001 a0001c0009 a0002c0002 others(2): Show a0001c0001 a0001c0009 a0002c0002 a0003c0003 a0024c0035	a0001c0001t0001 a0001c0009t0003 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0009t0003 a0002c0002t0001 a0003c0003t0001 a0024c0035t0001	a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0035 others(26): Show a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0009t0003g0074 a0001c0009t0003g0075 a0001c0009t0003g0078 a0001c0009t0003g0176 a0002c0002t0001g0160 a0002c0002t0001g0208 a0002c0002t0001g0312 a0002c0002t0001g0320 a0003c0003t0001g0182 a0024c0035t0001g0318	30	372	0.0807	-54	c.115 others(73): Show c.1156-2520_1156-2467delAGAGGCGGCCAGGGAGGTGATGGGAG GAGAGGCAGTCAGGGAGGTGATGGGAGG		PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
PAGE1_chrX_49682447_49700984	49690081	GTATATAT others(47): Show GTATATATGTGTATATATGTGTATATATACACATATATATGTGTATATAT ACACA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	322	0.0031	-54	c.293 others(69): Show c.293-592_293-539delTGTGTATATATACACATATATATGTGTATA TATACACATATATACACATATATA		PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5						chrX	TogoVar
PAH_chr12_102831889_102922244	102868126	GTATATAT others(47): Show GTATATATATATATATATATATATATATACACATATATATACATATATGT GTATA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0300 a0001c0004t0008g0300	1	312	0.0032	-54	c.442 others(71): Show c.442-1517_442-1464delTATACACATATATGTATATATATGTGTA TATATATATATATATATATATATATA		PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12						chr12	TogoVar
PAK5_chr20_9532370_9844076	9716113	CAAAAGCA others(47): Show CAAAAGCATACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAATTAAAA AAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(144): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02300.hp1 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18967.hp1 NA18967.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp2 NA18995.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA19070.hp1 NA19070.hp2 NA19082.hp1 NA19082.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0002 a0001c0004 a0001c0005 others(12): Show a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0002c0001 a0002c0007 a0002c0015 a0002c0017 a0003c0003 a0004c0008 a0005c0014 a0006c0016	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 others(26): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0017 a0001c0002t0025 a0001c0004t0004 a0001c0004t0018 a0001c0005t0008 a0001c0005t0010 a0001c0006t0002 a0001c0006t0003 a0001c0009t0003 a0001c0010t0019 a0001c0011t0003 a0002c0001t0001 a0002c0001t0002 a0002c0001t0009 a0002c0001t0013 a0002c0001t0014 a0002c0001t0016 a0002c0007t0001 a0002c0007t0016 a0002c0015t0001 a0002c0017t0009 a0003c0003t0003 a0003c0003t0012 a0004c0008t0001 a0005c0014t0004 a0006c0016t0008	a0001c0002t0002g0001 a0001c0002t0002g0016 a0001c0002t0002g0021 others(144): Show a0001c0002t0002g0001 a0001c0002t0002g0016 a0001c0002t0002g0021 a0001c0002t0002g0031 a0001c0002t0002g0035 a0001c0002t0002g0045 a0001c0002t0002g0049 a0001c0002t0002g0062 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0094 a0001c0002t0002g0096 a0001c0002t0002g0103 a0001c0002t0002g0110 a0001c0002t0002g0129 a0001c0002t0002g0134 a0001c0002t0002g0139 a0001c0002t0002g0146 a0001c0002t0002g0150 a0001c0002t0002g0152 a0001c0002t0002g0158 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0167 a0001c0002t0002g0198 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0003g0011 a0001c0002t0003g0087 a0001c0002t0003g0149 a0001c0002t0003g0157 a0001c0002t0003g0166 a0001c0002t0004g0086 a0001c0002t0004g0188 a0001c0002t0017g0153 a0001c0002t0025g0206 a0001c0004t0004g0018 a0001c0004t0004g0020 a0001c0004t0004g0046 a0001c0004t0004g0050 a0001c0004t0004g0051 a0001c0004t0004g0060 a0001c0004t0004g0066 a0001c0004t0004g0070 a0001c0004t0004g0081 a0001c0004t0004g0108 a0001c0004t0004g0112 a0001c0004t0004g0127 a0001c0004t0004g0171 a0001c0004t0004g0174 a0001c0004t0004g0179 a0001c0004t0004g0180 a0001c0004t0004g0193 a0001c0004t0004g0195 a0001c0004t0018g0040 a0001c0005t0008g0052 a0001c0005t0008g0115 a0001c0005t0008g0116 a0001c0005t0008g0130 a0001c0005t0008g0200 a0001c0005t0010g0064 a0001c0006t0002g0002 a0001c0006t0002g0178 a0001c0006t0003g0075 a0001c0006t0003g0077 a0001c0006t0003g0101 a0001c0006t0003g0147 a0001c0006t0003g0160 a0001c0009t0003g0003 a0001c0009t0003g0168 a0001c0010t0019g0082 a0001c0011t0003g0205 a0002c0001t0001g0010 a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0001t0001g0015 a0002c0001t0001g0022 a0002c0001t0001g0023 a0002c0001t0001g0027 a0002c0001t0001g0030 a0002c0001t0001g0036 a0002c0001t0001g0037 a0002c0001t0001g0039 a0002c0001t0001g0043 a0002c0001t0001g0047 a0002c0001t0001g0048 a0002c0001t0001g0053 a0002c0001t0001g0056 a0002c0001t0001g0058 a0002c0001t0001g0059 a0002c0001t0001g0071 a0002c0001t0001g0073 a0002c0001t0001g0085 a0002c0001t0001g0095 a0002c0001t0001g0121 a0002c0001t0001g0125 a0002c0001t0001g0132 a0002c0001t0001g0133 a0002c0001t0001g0135 a0002c0001t0001g0137 a0002c0001t0001g0143 a0002c0001t0001g0148 a0002c0001t0001g0156 a0002c0001t0001g0164 a0002c0001t0001g0170 a0002c0001t0001g0172 a0002c0001t0001g0177 a0002c0001t0001g0187 a0002c0001t0001g0197 a0002c0001t0002g0079 a0002c0001t0009g0042 a0002c0001t0009g0106 a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0009g0194 a0002c0001t0013g0183 a0002c0001t0013g0190 a0002c0001t0014g0119 a0002c0001t0014g0128 a0002c0001t0016g0207 a0002c0007t0001g0014 a0002c0007t0001g0028 a0002c0007t0001g0102 a0002c0007t0001g0142 a0002c0007t0016g0208 a0002c0015t0001g0090 a0002c0017t0009g0196 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0029 a0003c0003t0003g0054 a0003c0003t0003g0088 a0003c0003t0003g0099 a0003c0003t0003g0113 a0003c0003t0003g0114 a0003c0003t0003g0131 a0003c0003t0003g0144 a0003c0003t0003g0184 a0003c0003t0003g0192 a0003c0003t0003g0199 a0003c0003t0012g0024 a0003c0003t0012g0057 a0003c0003t0012g0126 a0003c0003t0012g0181 a0004c0008t0001g0092 a0005c0014t0004g0122 a0006c0016t0008g0138	147	208	0.7067	-54	c.-16 others(73): Show c.-161-4732_-161-4679delTTTTTTTTTAATTTTTTTTTTTTTAT TATACTCTAAGTTTTAGGGTATGCTTTT		PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9						chr20	TogoVar
PALMD_chr1_99641113_99699535	99683034	AAGAAAGA others(47): Show AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01074.hp1 HG01074.hp2 others(38): Show HG00408.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01169.hp1 HG01257.hp2 HG01517.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03209.hp1 HG03516.hp2 HG03834.hp2 NA18612.hp1 NA18951.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18995.hp2 NA19003.hp2 NA19062.hp1 NA19063.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 others(37): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0116 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0153 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0273 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0004g0159 a0001c0001t0007g0162	41	380	0.1079	-54	c.252 others(71): Show c.252-3618_252-3565delGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGAAAGAAAGAAAGAAAGA		PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
PALMD_chr1_99641113_99699535	99683082	GAGAGAGA others(47): Show GAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0312 a0001c0002t0001g0312	1	380	0.0026	-54	c.252 others(71): Show c.252-3590_252-3537delGAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGA		PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
PANK1_chr10_89577988_89650242	89591029	CATATGTT others(47): Show CATATGTTTATGAATTTTCTTAATAAAAAGCTGATAAAGCAAGATATAGA ATAGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0263 a0001c0005t0019g0263	1	366	0.0027	-54	c.120 others(73): Show c.1200+2114_1200+2167delACTATTCTATATCTTGCTTTATCAGC TTTTTATTAAGAAAATTCATAAACATAT		PANK1	ENSG00000152782.19	transcript	ENST00000307534.10	protein_coding	5/6						chr10	TogoVar
PAQR5_chr15_69293912_69412780	69300894	TTCCTTCC others(47): Show TTCCTTCCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTCTCTCTCTCTTTC TTTCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03225.hp1 HG03516.hp1 others(2): Show HG00423.hp1 HG03225.hp1 HG03516.hp1 NA19065.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0003t0003	a0001c0001t0001g0056 a0001c0001t0005g0045 a0001c0001t0005g0047 others(2): Show a0001c0001t0001g0056 a0001c0001t0005g0045 a0001c0001t0005g0047 a0001c0001t0010g0130 a0001c0003t0003g0106	5	284	0.0176	-54	c.-27 others(73): Show c.-277+1840_-277+1893delCCTTCCTTCCTTCCTTCCTTTCTCTC TCTCTCTCTCTCTCTCTCTTTCTTTCCT		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar

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