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
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(176): Show ATATAATTTATATAAATATATAAATATAATTTATAGAAATATAATTTATA TAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAAC TATAATTTATATAACTATAATTTATATAAATATATAACTATAATTTATAT AAATATATGACTATAATTTATATAAATATATGAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02109.hp2 HG03471.hp2 HG01975.hp1 HG02109.hp2 HG03471.hp2	a0043 a0049 a0079 a0043 a0049 a0079	a0043c0065 a0049c0046 a0079c0064 a0043c0065 a0049c0046 a0079c0064	a0043c0065t0001 a0049c0046t0002 a0079c0064t0001 a0043c0065t0001 a0049c0046t0002 a0079c0064t0001	a0043c0065t0001g0025 a0049c0046t0002g0146 a0079c0064t0001g0152 a0043c0065t0001g0025 a0049c0046t0002g0146 a0079c0064t0001g0152	3	152	0.0197	183	c.342 others(202): Show c.3420-8498_3420-8497insAAATATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATATAACTATAATTTATATAAATATATAACTATAATTTA TATAAATATATGACTATAATTTATATAAATATATGACTATAATTTATATA AATATAT		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39					INFO_REALIGN_3_PRIME	chr10	TogoVar
MAPK11_chr22_50258713_50275380	50274865	C C	CTCCCAGC others(176): Show CTCCCAGCCCCCTCCACCTCCCCCAGCACCCCTCCCAGCCCCCTCCACCT CCCCCAGTATCCCTCCCAGCCCCCTCCACCTCCCAGCACCACCCCCAGCC CCCTCCACCTCCCCCAGCATCCCTCCCAGCCCCCTCCACCTCCCCCAGCA TCCCTCCCAGCCCCCTCCACCTTTCCAGCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0015 a0001c0001t0006g0015	1	428	0.0023	183	c.-45 others(194): Show c.-4574_-4573insAGGGTGCTGGAAAGGTGGAGGGGGCTGGGAGGGA TGCTGGGGGAGGTGGAGGGGGCTGGGAGGGATGCTGGGGGAGGTGGAGGG GGCTGGGGGTGGTGCTGGGAGGTGGAGGGGGCTGGGAGGGATACTGGGGG AGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGAGGTGGAGGGGGCTGGGA		MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding					4486		chr22	TogoVar
MARCHF1_chr4_163519718_164389019	163894556	C C	CATGCATA others(176): Show CATGCATATATATATATGCATATATATATGTGATGCATATATATATGTGC ATATATATATGTGATGCATATATATATATGCATATATATATGTGATGCAT ATATATATGCATGTGATGCATATATATATATGCATGTGATGCATATATAT ATATGCATGTGATGCATATATATATATGCATGTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03486.hp2 HG02257.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0003 a0001c0001t0013 a0001c0002t0003	a0001c0001t0013g0015 a0001c0002t0003g0016 a0001c0001t0013g0015 a0001c0002t0003g0016	2	102	0.0196	183	c.-38 others(202): Show c.-38-40388_-38-40387insCACATGCATATATATATATGCATCAC ATGCATATATATATATGCATCACATGCATATATATATATGCATCACATGC ATATATATATGCATCACATATATATATGCATATATATATATGCATCACAT ATATATATGCACATATATATATGCATCACATATATATATGCATATATATA TATGCAT		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9						chr4	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(176): Show TATATATATAATTATATATAATATAATTATATATATAATTATATATAATA TAATTATATAATATATAATTTATATATAATATAATTATATAATATATAAT TTATATATAATATAATTATATAATATATAATTTATATATAATATAATTAT ATAATATATAATTTATATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	288	0.0035	183	c.-31 others(194): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATTATATATAATTATATATATAATTATATTATATATAATTATATATAT		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					3060		chr19	TogoVar
METRNL_chr17_83074609_83100122	83090375	A A	ACCCCCGC others(176): Show ACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCC GCCCCAGGGTGGGAGCCACACACACACACCCCCCCCCACACACACCCCGC CCCACACACACACCCCCCGCCCCACACACACACACCCCGCCCCACACACA CACCCCCCGCCCCACACACACACACACCCCCCCC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	399	0.0025	183	c.557 others(200): Show c.557-2791_557-2790insCCCCGCCCTGCCCCAGGGTGGGAGCCAC ACACACACCCCCCACCCCCCGCCCCAGGGTGGGAGCCACACACACACACC CCCCCCCACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACA CACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACACCCC CCCCC		METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090485	A A	ACCCCCGC others(176): Show ACCCCCGCCCCACACACACACCCCCCGCCCCACACACACACACCCCGCCC CACACACACACCCCCCGCCCCACACACACACACACCCCCGCCCCACACAC ACACACCCCCCGCCCCACACACACACCCCCCACCCCCCGCCCCAGGGTGG GAGCCACACACACACCCCCGCCCCACACACACAC	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0294 a0001c0001t0004g0294	1	399	0.0025	183	c.557 others(200): Show c.557-2662_557-2661insCCCCCGCCCCACACACACACACCCCGCC CCACACACACACCCCCCGCCCCACACACACACACACCCCCGCCCCACACA CACACACCCCCCGCCCCACACACACACCCCCCACCCCCCGCCCCAGGGTG GGAGCCACACACACACCCCCGCCCCACACACACACCCCCCGCCCCACACA CACAC		METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr17	TogoVar
MID2_chrX_107820866_107936637	107910797	C C	CCTTTCCT others(176): Show CCTTTCCTTTCCTTTCCTTTCTTTCCTTTCCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0023	1	181	0.0055	183	c.107 others(202): Show c.1074-5185_1074-5184insTTTCCTTTCCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCTTTCCTTTCCTT TCCTTTC		MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
MIGA1_chr1_77774649_77884540	77871125	G G	GGGAGAGG others(176): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	280	0.0036	183	c.146 others(202): Show c.1468-1878_1468-1877insGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAG		MIGA1	ENSG00000180488.17	transcript	ENST00000370791.9	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
MLC1_chr22_50054391_50090426	50057572	G G	GGGATCAG others(176): Show GGGATCAGGTCTGGGTTGGGGTCAGGTCTGGGCTTGGGGGTCAGGTCTGG GTTTGGGGGTCAGGACTGGGTTTGGTGTCAGGTCTGGGTTGTGAGTCAGG TCTGGGTTGGGGGATCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGCGG GAGGTCTGGGTTGGGGGTCAGGTCTGGGTTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00733.hp1 others(49): Show HG00438.hp2 HG00544.hp2 HG00733.hp1 HG01175.hp1 HG01192.hp2 HG01346.hp1 HG01515.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02132.hp2 HG02135.hp1 HG02280.hp1 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG03239.hp1 HG03471.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18957.hp2 NA18959.hp2 NA18963.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18980.hp1 NA18986.hp1 NA18991.hp2 NA18994.hp2 NA19002.hp1 NA19011.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19081.hp2 NA19087.hp2 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 a0001c0001t0020 a0001c0009t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(45): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0188 a0001c0001t0008g0029 a0001c0001t0008g0049 a0001c0001t0008g0055 a0001c0001t0008g0061 a0001c0001t0017g0109 a0001c0001t0020g0021 a0001c0009t0001g0054	52	212	0.2453	183	c.40 others(194): Show c.4010_*4011insTCACAACCCAGACCTGACCCCCAACCCAGACCTC CCGCCCAACCCAGACCTGACCCCAACCCAGACCTGATCCCCCAACCCAGA CCTGACTCACAACCCAGACCTGACACCAAACCCAGTCCTGACCCCCAAAC CCAGACCTGACCCCCAAGCCCAGACCTGACCCCAACCCAGACCTGATCC		MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding					1818		chr22	TogoVar
MLPH_chr2_237482251_237560322	237544562	G G	GGACAGTG others(176): Show GGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGG GGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTG GGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAG TGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA19000.hp2 NA18964.hp1 NA19000.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0001 a0004c0005t0002 a0002c0002t0001 a0004c0005t0002	a0002c0002t0001g0066 a0004c0005t0002g0252 a0002c0002t0001g0066 a0004c0005t0002g0252	2	286	0.0070	183	c.153 others(202): Show c.1539+1904_1539+1905insACAGTGGTGAGTGGGCACGGTAGTGA GTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGG TGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTG GTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTG GTGAGTG		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MPPED1_chr22_43407014_43512848	43499933	T T	TGGTGATG others(176): Show TGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTG GTGGTGATGGCGATGGAGGTGGTAGTGGTGGTGATGAAGGTGGTGATGGA GGTGGTAATGGAGGTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGG CAGTGATGATGGTGGTGATGGTGATGGAGGTGGC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01099.hp1 HG01261.hp1 others(15): Show HG01070.hp1 HG01099.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG02129.hp1 HG02165.hp2 HG03688.hp2 HG04204.hp1 NA18612.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19064.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0005t0001	a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0001g0128 others(15): Show a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0178 a0001c0001t0001g0204 a0001c0001t0002g0148 a0001c0002t0001g0022 a0001c0002t0001g0096 a0001c0002t0001g0104 a0001c0002t0001g0112 a0001c0002t0001g0164 a0001c0002t0002g0071 a0001c0002t0003g0062 a0001c0002t0003g0233 a0001c0002t0003g0236 a0001c0002t0003g0249 a0001c0005t0001g0051 a0001c0005t0001g0052	18	250	0.0720	183	c.748 others(200): Show c.748+1585_748+1586insTGATGGAGGTGGTGATGGGGGTGGTGGT GGTGATGGTGATGGAGGTGGTGGTGATGGCGATGGAGGTGGTAGTGGTGG TGATGAAGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGGGGTGATGGTG GTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGT GGCGG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43499933	T T	TGGTGATG others(176): Show TGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTG GTGGTGATGGCGATGGAGGTGGTAGTGGTGGTGATGAAGGTGGTGATGGA GGTGGTAATGGAGGTGGTGGGGGTGGTGGTGGTGATGGTGATGGAGGTGG CAGTGATGATGGTGGTGATGGTGATGGAGGTGGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	250	0.0040	183	c.748 others(200): Show c.748+1585_748+1586insTGATGGAGGTGGTGATGGGGGTGGTGGT GGTGATGGTGATGGAGGTGGTGGTGATGGCGATGGAGGTGGTAGTGGTGG TGATGAAGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGGGGTGGTGGTG GTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGT GGCGG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500145	G G	GTGATGGG others(176): Show GTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGT GGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGA TGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATG GGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	250	0.0040	183	c.748 others(200): Show c.748+1797_748+1798insATGGGGGTGGTGGTGGTGATGGTGATGG AGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGG GTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGAT GGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGG TGATG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MSLN_chr16_755734_773862	767760	A A	AGGGGGCA others(176): Show AGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCGC GTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGG GGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTG GGGGGGTGTGGAGGGGGGCGCATGGGGGTGCGTG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0191 a0002c0002t0002g0191	1	388	0.0026	183	c.159 others(200): Show c.1596+292_1596+293insGGGCACGTGGAGGGGTCGCGTGGAGGAG GGGCGCGTGGAGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTG GAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGC GCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCATGGGGGTGC GTGGG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MUSK_chr9_110663791_110811558	110681088	T T	TATATTAA others(176): Show TATATTAATATTATATATATTATATATATTATATATATTATATAATATAT ATTATATATAATATATATTATATTATATATTATATTATATATAATATATA TAATATAATATATAATATAATATATATTATATATAATATATATTATATTA TATATTATATTATATATATTATATATATAATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02258.hp2 HG03130.hp2 others(1): Show HG01261.hp1 HG02258.hp2 HG03130.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0015 a0001c0001t0012 a0001c0001t0015	a0001c0001t0012g0178 a0001c0001t0015g0169 a0001c0001t0015g0170 others(1): Show a0001c0001t0012g0178 a0001c0001t0015g0169 a0001c0001t0015g0170 a0001c0001t0015g0171	4	326	0.0123	183	c.80- others(198): Show c.80-1582_80-1581insTAATATTATATATATTATATATATTATATA TATTATATAATATATATTATATATAATATATATTATATTATATATTATAT TATATATAATATATATAATATAATATATAATATAATATATATTATATATA ATATATATTATATTATATATTATATTATATATATTATATATATAATATAA TAT		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MYOM2_chr8_2040046_2150456	2086369	T T	TGTGATCT others(176): Show TGTGATCTCCGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCA CTGTTGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCC CCCACTGTTGTGATCTTTGCGTGGCCCCACTGTCATGATCTCTGGCACCC CACTGTCGTGATCTCCGCGTGGCCCCCCACAGTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0094 a0002c0094	a0002c0094t0001 a0002c0094t0001	a0002c0094t0001g0230 a0002c0094t0001g0230	1	403	0.0025	183	c.164 others(200): Show c.1644+987_1644+988insCGCGTGGCCCCCCACTGTTGTGATCTCT GCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACTGTTGTGAT CTCTGCGTGGCCCCCCACTGTTGTGATCTTTGCGTGGCCCCACTGTCATG ATCTCTGGCACCCCACTGTCGTGATCTCCGCGTGGCCCCCCACAGTCGTG ATCTC		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
NAGK_chr2_71063648_71084808	71081023	T T	TATTTATT others(176): Show TATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATATT TTATTTTATTTTATTTTATTTTATTTTATTTCATTTCATTTCATTTTATT TCATTTCATTTCATTTTATTTGATTTTATTTTATATTTGATTTGATTTGA TTTGATTTGATTTGATTTGATTTGATTTGATTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0009 a0001c0004t0004g0009	1	442	0.0023	183	c.25 others(194): Show c.2515_*2516insATTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATATTTTATTTTATTTTATTTTATTTTATTTTATTTCATT TCATTTCATTTTATTTCATTTCATTTCATTTTATTTGATTTTATTTTATA TTTGATTTGATTTGATTTGATTTGATTTGATTTGATTTGATTTGATTTG		NAGK	ENSG00000124357.13	transcript	ENST00000244204.11	protein_coding					1216		chr2	TogoVar
NCAM2_chr21_20993409_21548329	21331506	A A	ACTCTATA others(176): Show ACTCTATATATATATATATATATATATATATATATATATATATATATACA CTCTATATACATATATATATATACTCTATATACATATATATATACTCTAT ATATATACTCTCTCTATATATATATACTCTCTCTCTCTATATATATATAT ACTCTCTCTCTCTCCATATATATATATATATACT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0018 a0003c0006t0018	a0003c0006t0018g0016 a0003c0006t0018g0016	1	132	0.0076	183	c.738 others(200): Show c.738-3995_738-3994insATATATATATATATATATATATATATAT ATATATATATATATACACTCTATATACATATATATATATACTCTATATAC ATATATATATACTCTATATATATACTCTCTCTATATATATATACTCTCTC TCTCTATATATATATATACTCTCTCTCTCTCCATATATATATATATATAC TCTCT		NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(176): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTAT ATATATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	132	0.0076	183	c.738 others(200): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATATACTCTATATATATATATATATATATATAGAGAGAGAG AGAGA		NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21331576	T T	TACTCTAT others(176): Show TACTCTATATATATACTCTATATATATATATATACTCTATATATATATAT ATATATATACTCTCTCTCTCTCCATATATATATATATATACTCTATATAT ATATATATATACTCTCTCTCTCTCCATATATATATATATATATACTCTAT ATATATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	132	0.0076	183	c.738 others(200): Show c.738-3928_738-3927insCTCTATATATATACTCTATATATATATA TATACTCTATATATATATATATATATATACTCTCTCTCTCTCCATATATA TATATATATACTCTATATATATATATATATACTCTCTCTCTCTCCATATA TATATATATATATACTCTATATATATATATATATATATATATATATAGAG AGAGA		NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	6/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CAGTGCCC others(176): Show CAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	384	0.0026	183	c.-41 others(194): Show c.-4100_-4099insAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCA CACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding					3985		chr22	TogoVar
NCOR2_chr12_124319415_124572612	124373619	A A	AATCATGA others(176): Show AATCATGAGGCCAGTGCGTGCGCAGGGGCCCCGGGCACAGTGGACAATCA TGAGGCCAGTGCGTGCGCAGGGGCCCCGTGCACAGTGGACAATCATGAGG CCAGTGCGTGCGCAGGGGCCCCGGGCACAGTGGACAATCATGAGGCCAGT GCGTGCGCAGGGGCCCCGTGCACAGTGGACAATC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02572.hp2 HG02615.hp2 others(2): Show HG01243.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG03516.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0023 a0002c0110 a0003c0074 others(1): Show a0001c0023 a0002c0110 a0003c0074 a0003c0075	a0001c0023t0027 a0001c0023t0060 a0002c0110t0074 others(2): Show a0001c0023t0027 a0001c0023t0060 a0002c0110t0074 a0003c0074t0014 a0003c0075t0005	a0001c0023t0027g0120 a0001c0023t0060g0110 a0002c0110t0074g0139 others(2): Show a0001c0023t0027g0120 a0001c0023t0060g0110 a0002c0110t0074g0139 a0003c0074t0014g0229 a0003c0075t0005g0127	5	234	0.0214	183	c.221 others(200): Show c.2218+793_2218+794insGATTGTCCACTGTGCACGGGGCCCCTGC GCACGCACTGGCCTCATGATTGTCCACTGTGCCCGGGGCCCCTGCGCACG CACTGGCCTCATGATTGTCCACTGTGCACGGGGCCCCTGCGCACGCACTG GCCTCATGATTGTCCACTGTGCCCGGGGCCCCTGCGCACGCACTGGCCTC ATGAT		NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	21/48						chr12	TogoVar
NDUFA5_chr7_123531997_123562818	123555602	T T	TGAGTTCA others(176): Show TGAGTTCAGTTCTTTACATCAATGACAATAAAGTTATTATGAAATCATAG GAAGTGCAAGACACTCATTCAACTAACACTATTTACTGAGCACATACTAT GTGACAGAGTTCTAGCAGTGAAACAATTACAAATTCCTGCCTTCATGAAA CCTACATTCTAGTAGAGACATAACAAAATAAATC	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0246 a0001c0001t0014g0246	1	414	0.0024	183	c.66+ others(198): Show c.66+1801_66+1802insGATTTATTTTGTTATGTCTCTACTAGAATG TAGGTTTCATGAAGGCAGGAATTTGTAATTGTTTCACTGCTAGAACTCTG TCACATAGTATGTGCTCAGTAAATAGTGTTAGTTGAATGAGTGTCTTGCA CTTCCTATGATTTCATAATAACTTTATTGTCATTGATGTAAAGAACTGAA CTC		NDUFA5	ENSG00000128609.16	transcript	ENST00000355749.7	protein_coding	2/4						chr7	TogoVar
NINL_chr20_25447697_25590531	25468941	T T	TGACTCTC others(176): Show TGACTCTCACTGGTGGGTGCCCCACTGCCCTGTCCCCTGACTCTCACTGG TGGGTGCCCCACTGCCCTGTCCCTCGACTCTCACTGGTGGGTGCCCCACT GCCCTGTCCCCCGACTCTCACTGGTGGGCACCCCCCTGCCCTGTCCCAAC TCTCACTGGTGGGCGCCCCACCGCCCTGTCCCCC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03130.hp2 others(1): Show HG02896.hp2 HG02897.hp2 HG03130.hp2 HG03471.hp2	a0004 a0020 a0004 a0020	a0004c0012 a0020c0045 a0004c0012 a0020c0045	a0004c0012t0001 a0004c0012t0006 a0020c0045t0001 a0004c0012t0001 a0004c0012t0006 a0020c0045t0001	a0004c0012t0001g0211 a0004c0012t0001g0220 a0004c0012t0006g0212 others(1): Show a0004c0012t0001g0211 a0004c0012t0001g0220 a0004c0012t0006g0212 a0020c0045t0001g0219	4	310	0.0129	183	c.335 others(202): Show c.3353+1049_3353+1050insGGGGGACAGGGCGGTGGGGCGCCCAC CAGTGAGAGTTGGGACAGGGCAGGGGGGTGCCCACCAGTGAGAGTCGGGG GACAGGGCAGTGGGGCACCCACCAGTGAGAGTCGAGGGACAGGGCAGTGG GGCACCCACCAGTGAGAGTCAGGGGACAGGGCAGTGGGGCACCCACCAGT GAGAGTC		NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	18/23						chr20	TogoVar
NKAIN2_chr6_123798865_124830640	123811451	A A	AAGAGAGA others(176): Show AAGAGAGAGAGAGAGACTGAAAAAGTACTGGGCTAAGTTAGAAGCTGGAT TTTAATATACCGAGAGAGAGAGAGAGACTGAAAAAGTACTGGGCTAAGTT AGAAGCTGGATTTTAATATACCGAGAGAGAGAGAGAGACTGAAAAAGTAC TGGGCTAAGTTAGAAGCTGGATTTTAATATACCG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	66	0.0152	183	c.54+ others(198): Show c.54+7257_54+7258insGAGAGAGAGAGAGAGACTGAAAAAGTACTG GGCTAAGTTAGAAGCTGGATTTTAATATACCGAGAGAGAGAGAGAGACTG AAAAAGTACTGGGCTAAGTTAGAAGCTGGATTTTAATATACCGAGAGAGA GAGAGAGACTGAAAAAGTACTGGGCTAAGTTAGAAGCTGGATTTTAATAT ACC		NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(176): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAA AGACAGAAAGAAAGACAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0070 a0002c0003t0001g0070	1	440	0.0023	183	c.319 others(198): Show c.319+282_319+283insCTTTCTTTCTTTCTTTCTGTCTTTCTTTCT GTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTGTCTTTCTTT CTT		NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10						chr19	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(176): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAG AAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAA AGAAAGACAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0079 a0002c0003t0001g0079	1	440	0.0023	183	c.319 others(198): Show c.319+282_319+283insCTTTCTTTCTTTCTTTCTTTCTTTCTGTCT TTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTT CTTTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTGTCTTTCTTT CTT		NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10						chr19	TogoVar
NLRP13_chr19_55890945_55937336	55931716	A A	AGAAAGAC others(176): Show AGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAC AGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAG AAAGAAAGACAGAAAGAAAGACAGAAAGAAAGAC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0134 a0002c0007t0001g0134	1	440	0.0023	183	c.319 others(198): Show c.319+276_319+277insGTCTTTCTTTCTGTCTTTCTTTCTGTCTTT CTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCT TTCTGTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTGTCT TTC		NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10						chr19	TogoVar
NLRP13_chr19_55890945_55937336	55931716	A A	AGAAAGAC others(176): Show AGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGAC AGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAG AAAGAAAGACAGAAAGAAAGACAGAAAGAAAGAC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0107 a0002c0007t0001g0107	1	440	0.0023	183	c.319 others(198): Show c.319+276_319+277insGTCTTTCTTTCTGTCTTTCTTTCTGTCTTT CTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCT TTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTGTCT TTC		NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10						chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993491	C C	CCCTCCCC others(176): Show CCCTCCCCCCTCCCTCCCCCTCCCCCTCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0008 a0006c0007t0008	a0006c0007t0008g0044 a0006c0007t0008g0044	1	350	0.0029	183	c.55 others(194): Show c.5578_*5579insCCTCCCCCCTCCCTCCCCCTCCCCCTCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCT		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding					4863		chr19	TogoVar
NME8_chr7_37843597_37905397	37848118	A A	AGGAAGAA others(176): Show AGGAAGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAAGAAGAAGA AGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAAAGAAGAGGAAGAGGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAAAGAAGAAGAAAAGAAGAAGAAGAA AAGAAGAAGAAGAAGAAGGAAGAAGAGGAAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02818.hp1 HG02970.hp1 HG02109.hp2 HG02818.hp1 HG02970.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0338 a0003c0003t0002g0340 a0003c0003t0002g0341 a0003c0003t0002g0338 a0003c0003t0002g0340 a0003c0003t0002g0341	3	388	0.0077	183	c.-85 others(192): Show c.-851_-850insGGAAGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGA AGAAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAAAGAAG AGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAGAAGAAGAAA AGAAGAAGAAGAAAAGAAGAAGAAGAAGAAGGAAGAAGAGGAAGAGG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					478		chr7	TogoVar
NPIPA1_chr16_14932443_14957056	14951771	T T	TCCGAGCG others(176): Show TCCGAGCGTCTGCTCTATCCCCTTCCACCCTCAGCGGATGATAATCTCAA GACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTCTACCCT CAGCGGATGATAATCTCAAGACACCTGCGGAGTGTCTGCTCTATCCCCTT CCACCCTCAGCGGATGATAATCTCAAGACACCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0047 a0002c0013t0001g0047	1	253	0.0040	183	c.804 others(190): Show c.804_805insCGTCTGCTCTATCCCCTTCCACCCTCAGCGGATGATAA TCTCAAGACACCTCCCGAGTGTCTGCTCACTCCCCTTCCACCCTCAGCTC TACCCTCAGCGGATGATAATCTCAAGACACCTGCGGAGTGTCTGCTCTAT CCCCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTCCCGAG	p.Glu others(196): Show p.Glu268_Cys269insArgLeuLeuTyrProLeuProProSerAlaAs pAspAsnLeuLysThrProProGluCysLeuLeuThrProLeuProProS erAlaLeuProSerAlaAspAspAsnLeuLysThrProAlaGluCysLeu LeuTyrProLeuProProSerAlaAspAspAsnLeuLysThrProProGl u	NPIPA1	ENSG00000183426.17	transcript	ENST00000328085.10	protein_coding	8/8	805/1084	805/1053	269/350		INFO_REALIGN_3_PRIME	chr16	TogoVar
NTSR1_chr20_62703836_62767771	62745161	A A	AGGATGTT others(176): Show AGGATGTTGGTACACACACCAGACTCAGAGGGAGACCCAGACAGACAGCA ACACAAAGACAGAGAGAGAGACACAGAGAGGAAAGCAGAGACACAGAGAG ACATGGAGAGAGACACAGAGACAGAGAAACAGACACATAGAGGAAAACAG ACACAGGGAGACACAGAGACAGAGATACAGAGAC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0001 a0011c0017t0001	a0011c0017t0001g0085 a0011c0017t0001g0085	1	316	0.0032	183	c.715 others(200): Show c.715-9523_715-9341dupGGATGTTGGTACACACACCAGACTCAGA GGGAGACCCAGACAGACAGCAACACAAAGACAGAGAGAGAGACACAGAGA GGAAAGCAGAGACACAGAGAGACATGGAGAGAGACACAGAGACAGAGAAA CAGACACATAGAGGAAAACAGACACAGGGAGACACAGAGACAGAGATACA GAGAC		NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
NXN_chr17_794310_984776	806106	A A	ACTGCAGC others(176): Show ACTGCAGCCCCCGCCGTCTGCACCCCAGCCCTCCCCGCTCCCCAGGGCTG CAGCCCCCGCCGTCTGCACCCCAGCCCTCCCCGCTCCCCAGGGCTGCAGC CCCCGCCGTCTGCACCCCAGCACAACCCCCTCCCCAGGGCTGCAGCCCCC GCCGTCTGCACCCCAGCTCCCCCCTTCCCCAGGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	242	0.0041	183	c.821 others(198): Show c.821-860_821-859insCCCTGGGGAAGGGGGGAGCTGGGGTGCAGA CGGCGGGGGCTGCAGCCCTGGGGAGGGGGTTGTGCTGGGGTGCAGACGGC GGGGGCTGCAGCCCTGGGGAGCGGGGAGGGCTGGGGTGCAGACGGCGGGG GCTGCAGCCCTGGGGAGCGGGGAGGGCTGGGGTGCAGACGGCGGGGGCTG CAG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7						chr17	TogoVar
NXN_chr17_794310_984776	892040	C C	CCAACAAG others(176): Show CCAACAAGGAACTAAGGTAACCCCACCATGTACAGCCCAACAGGGAACCT AAACTAACCCCACCATGTACAACCCAACAGGGAACCTAAACTAACCCCAC CATGCACAACCCAACAGGGAACCTAAACTAACCCCACCATGCACAACCCA ACAAGGAACTAAGCTAACCCCACCATGCACAACG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0220 a0001c0001t0013g0220	1	242	0.0041	183	c.361 others(202): Show c.361-65963_361-65962insCGTTGTGCATGGTGGGGTTAGCTTAG TTCCTTGTTGGGTTGTGCATGGTGGGGTTAGTTTAGGTTCCCTGTTGGGT TGTGCATGGTGGGGTTAGTTTAGGTTCCCTGTTGGGTTGTACATGGTGGG GTTAGTTTAGGTTCCCTGTTGGGCTGTACATGGTGGGGTTACCTTAGTTC CTTGTTG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXPH1_chr7_8428609_8757961	8623671	A A	AAAAAGTT others(176): Show AAAAAGTTCTTATTATTTTTTTTTTTTCTTTCTCTGCCCCTATCTTTTTT CCAGGGTCAAGAGCCAACTTCTAGCATGGCTTATTAGGACAATGTTTTAC TGTCAAGAAGTGCAGTGGTCACTCAGTACTGCTATCTCTAGGAGTATTTT CTTTTTTTTTTTTTATTATACTCTAAGTTTTAGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00741.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0208 a0001c0001t0002g0085 a0001c0001t0008g0075 a0001c0001t0001g0208 a0001c0001t0002g0085 a0001c0001t0008g0075	3	208	0.0144	183	c.55- others(202): Show c.55-127324_55-127323insATTTTTTTTTTTTCTTTCTCTGCCCC TATCTTTTTTCCAGGGTCAAGAGCCAACTTCTAGCATGGCTTATTAGGAC AATGTTTTACTGTCAAGAAGTGCAGTGGTCACTCAGTACTGCTATCTCTA GGAGTATTTTCTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGAAAAGT TCTTATT		NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH1_chr7_8428609_8757961	8623671	A A	AAAAAGTT others(176): Show AAAAAGTTCTTATTATTTTTTTTTTTTCTTTCTCTGCCCCTATCTTTTTT CCAGGGTCAAGAGCCAACTTCTAGCATGGCTTATTAGGACAATGTTTTAC TGTCAAGAAGTGCAGTGGTCACTCAGTACTGCTATCTCTAGGAGTATTTT CTTTTTTTTTTTTTATTATACTGTAAGTTTTAGG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG04199.hp1 HG02735.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0022 a0001c0001t0001g0023	2	208	0.0096	183	c.55- others(202): Show c.55-127324_55-127323insATTTTTTTTTTTTCTTTCTCTGCCCC TATCTTTTTTCCAGGGTCAAGAGCCAACTTCTAGCATGGCTTATTAGGAC AATGTTTTACTGTCAAGAAGTGCAGTGGTCACTCAGTACTGCTATCTCTA GGAGTATTTTCTTTTTTTTTTTTTATTATACTGTAAGTTTTAGGAAAAGT TCTTATT		NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
NXPH1_chr7_8428609_8757961	8623671	A A	AAAAAGTT others(176): Show AAAAAGTTCTTATTTTTTTTTTTTTTCTTTCTCTGCCCCTATCTTTTTTC CAGGGTCAAGAGCCAACTTCTAGCATGGCTTATTAGGACAATGTTTTACT GTCAAGAAGTGCAGTGGTCACTCAGTACTGCTATCTCTAGGAGTATTTTC TTTTTTTTTTTTTTATTATACTCTAAGTTTTAGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0132 a0001c0001t0005g0132	1	208	0.0048	183	c.55- others(202): Show c.55-127321_55-127320insTTTTTTTTTCTTTCTCTGCCCCTATC TTTTTTCCAGGGTCAAGAGCCAACTTCTAGCATGGCTTATTAGGACAATG TTTTACTGTCAAGAAGTGCAGTGGTCACTCAGTACTGCTATCTCTAGGAG TATTTTCTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGAAAAGTTCT TATTTTT		NXPH1	ENSG00000122584.13	transcript	ENST00000405863.6	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
NYAP2_chr2_225394710_225708654	225677281	A A	AAGTTATT others(176): Show AAGTTATTTATCAGTTCCAGGAGCTTTTCGGTGGAGTCTTCAGGGTTTCC TATGCATAGAATCATATCTTTGGCAAAGAGAGAATAGTTTTACTTCTTTT CCTGTTTGGATGTGTTTTATTTATTGCTCTTTTCTGATTTACCCTGGCTA GGACTTCCAGTACTGTGTTGAATAGAGTGGTGAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0030 a0003c0013t0030	a0003c0013t0030g0003 a0003c0013t0030g0003	1	192	0.0052	183	c.193 others(204): Show c.1933-21032_1933-20850dupTATTTATCAGTTCCAGGAGCTTTT CGGTGGAGTCTTCAGGGTTTCCTATGCATAGAATCATATCTTTGGCAAAG AGAGAATAGTTTTACTTCTTTTCCTGTTTGGATGTGTTTTATTTATTGCT CTTTTCTGATTTACCCTGGCTAGGACTTCCAGTACTGTGTTGAATAGAGT GGTGAGAGT		NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
OBI1_chr13_78609289_78664155	78659304	A A	AAAAGAAA others(176): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	296	0.0034	183	c.-18 others(192): Show c.-185_-184insCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT		OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding					150		chr13	TogoVar
OBI1_chr13_78609289_78664155	78659304	A A	AGAAAGAA others(176): Show AGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAA GGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	296	0.0034	183	c.-18 others(192): Show c.-185_-184insCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTT CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTC		OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding					150		chr13	TogoVar
OR6J1_chr14_22625929_22649352	22637535	A A	AGGGGGGG others(176): Show AGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTTCGGGAGGGAGG TGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCTCTGC CCCGGGCCAGCCGCCCCGTCCGGGAGGGGGGGAG	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0086 a0002c0002t0002g0086	1	362	0.0028	183	c.-27 others(200): Show c.-27-2698_-27-2697insCTCCCCCCCTCCCGGACGGGGCGGCTGG CCCGGGGCAGAGGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCACCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCACCACCTCCCTCCCGAACGGGGCGGCTGGCCGGGCAGGGGGCTGACCC CCCCC		OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1						chr14	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GAGAGACA others(176): Show GAGAGACAAGGAGGTGGGGGAGAGGGGGGGAGAGACGAGGAGGTGGGGGA GGGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGAGG AGAGAGAGAGGGAGTAAAGGGGAGGGAGGGGGGGAGAGAGAGACGGGGGG AGAGAGAGGGAGAAAAGGAGAGGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02071.hp2 HG01258.hp2 HG02071.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0004t0001 a0002c0003t0001 a0002c0004t0001	a0002c0003t0001g0101 a0002c0004t0001g0119 a0002c0003t0001g0101 a0002c0004t0001g0119	2	186	0.0108	183	c.537 others(202): Show c.537+18643_537+18644insTCTCTCTCCCCCCTCTCCTTTTCTCC CTCTCTCTCCCCCCGTCTCTCTCTCCCCCCCTCCCTCCCCTTTACTCCCT CTCTCTCTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCT CCCCCCCCTCCCCCACCTCCTCGTCTCTCCCCCCCTCTCCCCCACCTCCT TGTCTCT		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11						chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GGAGAGAC others(176): Show GGAGAGACAAGGAGGTGGGGGAGAGGGGGGGAGAGACGAGGAGGTGGGGG AGAGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGAG GAGAGAGAGAGGGAGTAAAGGGGAGGGAGGGGGGGAGAGAGAGACGGGGG GAGAGAGAGGGAGAAAAGGAGAGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02809.hp1 NA19043.hp2 HG01255.hp1 HG02809.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0037 a0002c0004 a0001c0001 a0001c0037 a0002c0004	a0001c0001t0002 a0001c0037t0002 a0002c0004t0001 a0001c0001t0002 a0001c0037t0002 a0002c0004t0001	a0001c0001t0002g0086 a0001c0037t0002g0063 a0002c0004t0001g0157 a0001c0001t0002g0086 a0001c0037t0002g0063 a0002c0004t0001g0157	3	186	0.0161	183	c.537 others(202): Show c.537+18643_537+18644insTCTCTCTCCCCCTCTCCTTTTCTCCC TCTCTCTCCCCCCGTCTCTCTCTCCCCCCCTCCCTCCCCTTTACTCCCTC TCTCTCTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCTC CCCCCTCTCCCCCACCTCCTCGTCTCTCCCCCCCTCTCCCCCACCTCCTT GTCTCTC		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11						chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31857789	G G	GGAGAGAC others(176): Show GGAGAGACAAGGAGGTGGGGGAGAGGGGGGGAGAGACGAGGAGGTGGGGG AGGGGGGGGAGGGGGGGAGAGGGAGGAAGGGGTTAGGGGAAGAGGGAGAG GAGAGAGAGAGGGAGTAAAGGGGAGGGAGGGGGGGAGAGAGAGACGGGGG GAGAGAGAGGGAGAAAAGGAGAGGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp2 HG02109.hp2 HG02486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0002g0140 a0002c0004t0001g0069 a0001c0001t0002g0140 a0002c0004t0001g0069	2	186	0.0108	183	c.537 others(202): Show c.537+18643_537+18644insTCTCTCTCCCCCTCTCCTTTTCTCCC TCTCTCTCCCCCCGTCTCTCTCTCCCCCCCTCCCTCCCCTTTACTCCCTC TCTCTCTCCTCTCCCTCTTCCCCTAACCCCTTCCTCCCTCTCCCCCCCTC CCCCCCCTCCCCCACCTCCTCGTCTCTCCCCCCCTCTCCCCCACCTCCTT GTCTCTC		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11						chr3	TogoVar
PADI4_chr1_17303197_17369004	17352036	G G	GAGGTGGG others(176): Show GAGGTGGGAAGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGTAGGAGAGA CTGTGGTCAGAGAGGTGATGGGAGGCAGTAGGAGAGGCGGTCAGGGAGGT GATGGGAGGTGGGAGGAGAGGCAGTCAGGGAGGTGATGGGAGGTGGTAGG AGAGACTGTGGTCAGAGAGGTGATGGGAGGCAGT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19055.hp1 NA19079.hp2 NA18995.hp1 NA19055.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0313 a0002c0002t0001g0283 a0002c0002t0001g0295 a0001c0001t0001g0313 a0002c0002t0001g0283 a0002c0002t0001g0295	3	372	0.0081	183	c.115 others(202): Show c.1156-2494_1156-2493insTGGGAAGAGAGGCAGTCAGGGAGGTG ATGGGAGGTGGTAGGAGAGACTGTGGTCAGAGAGGTGATGGGAGGCAGTA GGAGAGGCGGTCAGGGAGGTGATGGGAGGTGGGAGGAGAGGCAGTCAGGG AGGTGATGGGAGGTGGTAGGAGAGACTGTGGTCAGAGAGGTGATGGGAGG CAGTAGG		PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(176): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGG GAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGG GAGGGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp2 HG02886.hp1 others(12): Show HG02572.hp1 HG02630.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03540.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 others(12): Show a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047	15	302	0.0497	183	c.155 others(200): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCTTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTTCCC TTCCC		PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14						chr11	TogoVar
PAK4_chr19_39120786_39184404	39153279	G G	GACAGAGT others(176): Show GACAGAGTCCCACTCCATCACCCAGGCTGAAGTGCAGTGGCACAATCTCA GCTTACTGCAACCTCCACCTTCTGGGTTCAAGCAATTCTCGTACCTCAGC CTTCCGAGTAGCTGGAATCACAGGCATGTGCCACCACACCCGGCTAATTT TTGTGTTTTGTTGTTGTTGTTTTATTTTTTTGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00423.hp1 others(87): Show HG00099.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01192.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01943.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp1 HG02896.hp1 HG02976.hp2 HG03017.hp1 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG04115.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18956.hp1 NA18963.hp2 NA18964.hp2 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18988.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19054.hp1 NA19056.hp2 NA19060.hp1 NA19064.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0011 a0018 a0020	a0001c0001 a0001c0024 a0002c0002 others(4): Show a0001c0001 a0001c0024 a0002c0002 a0003c0013 a0011c0029 a0018c0028 a0020c0026	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0021 a0001c0024t0001 a0002c0002t0001 a0003c0013t0001 a0011c0029t0012 a0018c0028t0012 a0020c0026t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(86): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0261 a0001c0001t0001g0274 a0001c0001t0001g0365 a0001c0001t0003g0061 a0001c0001t0004g0275 a0001c0001t0004g0294 a0001c0001t0004g0347 a0001c0001t0004g0349 a0001c0001t0004g0350 a0001c0001t0004g0351 a0001c0001t0004g0355 a0001c0001t0021g0046 a0001c0024t0001g0080 a0002c0002t0001g0117 a0002c0002t0001g0132 a0002c0002t0001g0246 a0003c0013t0001g0114 a0011c0029t0012g0087 a0018c0028t0012g0011 a0020c0026t0001g0113	90	368	0.2446	183	c.-95 others(202): Show c.-95-14850_-95-14849insTCCGAGTAGCTGGAATCACAGGCATG TGCCACCACACCCGGCTAATTTTTGTGTTTTGTTGTTGTTGTTTTATTTT TTTGAAACAGAGTCCCACTCCATCACCCAGGCTGAAGTGCAGTGGCACAA TCTCAGCTTACTGCAACCTCCACCTTCTGGGTTCAAGCAATTCTCGTACC TCAGCCT		PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
PCGF3_chr4_700832_775089	707531	G G	GGACAGCT others(176): Show GGACAGCTCTGTTTTCCCCTGGGGGTCGGGACCCTGGGACAGCCCTGTTT TCCCCTGGGGGCCGGGACCCTGGGACAGCACTGTTTTCCCCTGGGGGCCT GGGACCCTGAGACAGCTCTGTTTTCCCCTGGGGGCCTGGGACCCTGAGAC AGCTCTGTTTTCCCCTGGGGGCCTGGGACCCTGA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0110 a0001c0001t0006g0110	1	366	0.0027	183	c.-19 others(202): Show c.-190+1567_-190+1568insTCTGTTTTCCCCTGGGGGTCGGGACC CTGGGACAGCCCTGTTTTCCCCTGGGGGCCGGGACCCTGGGACAGCACTG TTTTCCCCTGGGGGCCTGGGACCCTGAGACAGCTCTGTTTTCCCCTGGGG GCCTGGGACCCTGAGACAGCTCTGTTTTCCCCTGGGGGCCTGGGACCCTG AGACAGC		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PDCD6_chr5_266646_319974	318252	C C	CCCCTCCC others(176): Show CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCT TCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCG CACCCTGCACCTCCCACCCTTACCCTGCACCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	360	0.0028	183	c.37 others(194): Show c.3737_*3738insCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCAC CTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGC ACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCC TCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCT		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding					3279		chr5	TogoVar

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