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
MFSD3_chr8_144504070_144516213	144513791	C C	CGTGGGGA others(503): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0004 a0010c0013t0001g0004	1	336	0.0030	510	c.26 others(521): Show c.2627_*2628insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCG		MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding					2579		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(503): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGG TCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAG AGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	210	0.0048	510	c.26 others(521): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGC GTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGG AGGGGTCGGCGTGGGCGGTGGGGAGA		MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding					2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(503): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG AGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	210	0.0048	510	c.26 others(521): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGG AGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGG AGGGGTCGGCGTGGGCGGTGGGGAGA		MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding					2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513834	A A	GAGGGGTC others(503): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGTGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGGCGGT GGGGAGTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	199	0.0050	510	c.26 others(520): Show c.2670delAinsGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGTAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGTGCAGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGG TCGGCGTGGGCGGTGGGGAGTGAGT		MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding					2621		chr8	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(503): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTAGGGGAGTGTGGT TGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGG TTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTG TTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGGAGTG TGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAG TGTGGTTGGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTG TGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGT GGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTG TGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAG TGTGGTTGATG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0012 a0004c0006t0012	a0004c0006t0012g0102 a0004c0006t0012g0102	1	25	0.0400	510	c.57+ others(527): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTAGGGGAG TGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGG AGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTG GGGGAGTGTGGTTGGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGG GGAGTGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGG GAGTGTGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGG GGAGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTG GGGGAGTGTGGTTGATGGGGGGAGTGTGGTTG		MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr17	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(503): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGA TTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGGTTGATGGGTGGAG TGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGT GTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGTGTGGTTGATGGGGAGTG TGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAG TGTGGTTGATG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0103 a0001c0001t0008g0103	1	25	0.0400	510	c.57+ others(527): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGG GGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGGTTGATGG GTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTGTGGTTGGTGG GGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGTGTGGTTGATGG GGAGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTG GGGGAGTGTGGTTGATGGGGGGAGTGTGGTTG		MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr17	TogoVar
MTTP_chr4_99569824_99628997	99588984	T T	TATATATG others(503): Show TATATATGTTCATATATATACTCATATATATATGTTCATGTATATTCATA TATATATGTTCATATATATATTCATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0182 a0002c0002t0002g0182	1	354	0.0028	510	c.394 others(525): Show c.394-653_394-652insGTTCATATATATACTCATATATATATGTTC ATGTATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATAT		MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(503): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0293 a0002c0002t0002g0293	1	165	0.0061	510	c.394 others(525): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATT		MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17						chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(503): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0049 a0004c0004t0001g0049	1	165	0.0061	510	c.394 others(525): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATT		MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17						chr4	TogoVar
MUSK_chr9_110663791_110811558	110690733	T T	TATATATA others(503): Show TATATATATTTATATATAAGTATATATATATTTATATATAAATATATATA TAAATATATATATTTATATATAAGTATATATATATTTATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATAAATATATATATTTA TATATAAGTGTATATATATTTATATATACGTATATATAAATATATATATT TATATATACGTATATATAAATATATATATTTATATATACGTATATATATA AATATATATATTTATATATACGTATATATAAATATATATATTTATATATA TACGTATATATAAATATATATATTTAAATATAAGTATATATAAATATATA TATTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATA TAAATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATA AGTATATATATAAATATAAGTATATATATAAATATATATTTAAATATAAG TATATATATAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0130 a0001c0002t0023g0130	1	322	0.0031	510	c.358 others(527): Show c.358+3476_358+3477insTATATAAGTATATATATATTTATATATA AATATATATATAAATATATATATTTATATATAAGTATATATATATTTATA TAAGTATATATATAAATATATATATTTATATATAAGTATATATATAAATA TATATATTTATATATAAGTGTATATATATTTATATATACGTATATATAAA TATATATATTTATATATACGTATATATAAATATATATATTTATATATACG TATATATATAAATATATATATTTATATATACGTATATATAAATATATATA TTTATATATATACGTATATATAAATATATATATTTAAATATAAGTATATA TAAATATATATATTTAAATATAAGTATATATATAAATATATATTTAAATA TAAGTATATATAAATATATATTTAAATATAAGTATATATATAAATATATA TTTAAATATAAGTATATATATAAATATAAGTATATATATAAATATATATT TAAATATAAGTATATATATAAATATATATTTA		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TAATATAA others(503): Show TAATATAATATATATAAATATATAATATATATAATATATATTATATATAA ATATATAATATATATTATATATTATATATATTATAATATATAATATATAT TATATATTATATATATTATAATATATAATATATATAATATATATTATATA TTATATATATATAATATATAATATATATTATATATAAATATATAATATAT AATATATATTATATATATATATAATATATAATATATATTATATATATATA TTATATAATATATAATATATTATATATATTATATAATATATTGTATATTA TATAATATATAATATATAATATATATTATATATAAATATATAATATATAA TATAATATATAATATATTATATATATTATATTATATATATTATATTATAT ATAATATATTATATATTATATATTTATATATAATATATATATAATATATA TTATATAATATATAATATATTATATATTATATAATATATATAATATATTA TATAATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0072 a0003c0005t0001g0072	1	202	0.0050	510	c.48+ others(525): Show c.48+1020_48+1021insAATATAATATATATAAATATATAATATATA TAATATATATTATATATAAATATATAATATATATTATATATTATATATAT TATAATATATAATATATATTATATATTATATATATTATAATATATAATAT ATATAATATATATTATATATTATATATATATAATATATAATATATATTAT ATATAAATATATAATATATAATATATATTATATATATATATAATATATAA TATATATTATATATATATATTATATAATATATAATATATTATATATATTA TATAATATATTGTATATTATATAATATATAATATATAATATATATTATAT ATAAATATATAATATATAATATAATATATAATATATTATATATATTATAT TATATATATTATATTATATATAATATATTATATATTATATATTTATATAT AATATATATATAATATATATTATATAATATATAATATATTATATATTATA TAATATATATAATATATTATATAATATATA		NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3						chr21	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(503): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAAT GAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCA ATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGG CAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0186 a0002c0010t0001g0186	1	206	0.0049	510	c.140 others(527): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(503): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAG GGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATG AGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGG CAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0283 a0001c0012t0001g0283	1	206	0.0049	510	c.140 others(527): Show c.140+8514_140+8515insTGCACCCATTGCCCCGGGAGGGATCCTG AGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGA TCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NT5DC3_chr12_103767310_103846234	103768606	G G	GGAGGGAG others(503): Show GGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGG GGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACAGG GACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGGAGGGAGAGGGACAGG GAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGAGAG GGGGGAGAGGGAGGGGGCGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGAGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGG AGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGG AGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGG ACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAG GGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAGGG AGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG03471.hp2 HG02630.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0331 a0001c0002t0024g0332 a0001c0002t0024g0331 a0001c0002t0024g0332	2	169	0.0118	510	c.92 others(521): Show c.9222_*9223insTCCCTCTCTCTCCCTCTCTCTCCCTCTCTCTCTC ACTCCCTTTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCC TCTCCCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCT CCCTCCCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCC TCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCC TCTCCCTCCCTCTCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCC TCCCCTCCCGCCCCCTCCCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCC CTCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCCCCCTCT CCCTCCCTCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTC CCCCTCCCTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCT CCCTGTCCCCCCTCTCCCCCTCCCTC		NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding					3703		chr12	TogoVar
NXN_chr17_794310_984776	948838	T T	TCTCCCCG others(503): Show TCTCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC CTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCGGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCC CCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGC CTCCTACTCTC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	229	0.0044	510	c.360 others(529): Show c.360+30480_360+30481insGAGAGTAGGAGGCCGCGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGG GAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAG GAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGG GGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGG CAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAG GAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGAG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	952378	G G	GGTCAGAG others(503): Show GGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGA ACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGAG AGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGG GGCTGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGT CACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCGGCAGG TACCACGGACGGTCACACTGTGGGGGGGGGCTGGAGTCAGACAGACCAAG GTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGCTGGGGT CAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGT GGGGGGCTGGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	114	0.0088	510	c.360 others(529): Show c.360+26940_360+26941insTCCAGCCCCCCACAGTGTGACCGTCC GTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCAC AGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGAC TCCAGCCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGTTCCAAC CTTGGTCTGTCTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACC TGCCGGGTTCCAACCTTGGTCTCTCTGACCCAGCCCCCCCACAGTGTGAC CGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCC CCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTG TCTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTT CCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTG GTACCTGCCGGGTTCCAACCTTGGTCTCTCTGAC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
OPRM1_chr6_154034240_154137356	154100218	C C	CATATATC others(503): Show CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACATATATCATAATATATATTATCATATTATGACATA TATCATAATATATATTATCATATTATGACATATATCATAATATATATTAT CATATTATGACATATATCATAATATATAATCATATTATGACATATATCAT AATATATAATCATATTATGACATATATCATAATATATATTATCATATTAT GACATATATCATAATATATATTATCATATTATGACATATATCATAATATA TATTATCATATTATGACATATATCATAATATATATTATCATATTATGACA TATATCATAATATATATTATCATATTATGACATATATCATAATATATATT ATCATATTATGACATATATCATAATATATATTATCATATTATGACATATA TCATAATATATATTATCATATTATGACATATATCATAATATATATTATCA TATTATGACAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0258 a0001c0001t0010g0258	1	58	0.0172	510	c.116 others(529): Show c.1164+8750_1164+8751insATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATCATATTATGACATATATCATAATATATATTATCATATTATGACAT ATATCATAATATATATTATCATATTATGACATATATCATAATATATAATC ATATTATGACATATATCATAATATATAATCATATTATGACATATATCATA ATATATATTATCATATTATGACATATATCATAATATATATTATCATATTA TGACATATATCATAATATATATTATCATATTATGACATATATCATAATAT ATATTATCATATTATGACATATATCATAATATATATTATCATATTATGAC ATATATCATAATATATATTATCATATTATGACATATATCATAATATATAT TATCATATTATGACATATATCATAATATATATTATCATATTATGACATAT ATCATAATATATATTATCATATTATGACATATAT		OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
OSGIN1_chr16_83948240_83971332	83950450	C C	CACATGCA others(503): Show CACATGCACGTACATACTGGCACACACGTACACACACATGCACACATGAG CACATGTGCACACATGCACATACATACTGGCACACACGTACACACACATG CACACATGAGCACATGTGCACACGCACATACATACTGGCACACACGTACA CACACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCA CACACGTACACACACATGCACACATGAGCACATGTGCACACATGCACATA CATACTGGCACACACGTACACACATGCACACGTGAGCACATGTGCACACA TGCACATACATACTGGCACACACGTACACGCACACGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTG CACACATGCACATACATACTGGCACATGTACACACACGCACACATGAGCA CATGTGCACACATGCACATACATACTGGCACACGTACACGCACACATGAG CACATGTGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0179 a0001c0003t0002g0179	1	335	0.0030	510	c.-29 others(521): Show c.-2953_-2952insACATGCACGTACATACTGGCACACACGTACACAC ACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACAC ACGTACACACACATGCACACATGAGCACATGTGCACACGCACATACATAC TGGCACACACGTACACACACATGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACACGTACACACACATGCACACATGAGCACATGT GCACACATGCACATACATACTGGCACACACGTACACACATGCACACGTGA GCACATGTGCACACATGCACATACATACTGGCACACACGTACACGCACAC GAGCACATGTGCACACATGCACATACATACTGGCACACACGTACATGCAC ACATGAGCACATGTGCACACATGCACATACATACTGGCACATGTACACAC ACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACGT ACACGCACACATGAGCACATGTGCAT		OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding					2789		chr16	TogoVar
P2RY8_chrX_1457581_1542185	1473769	A A	ATGGATGG others(503): Show ATGGATGGGTGGGTGGATGAATGGTGGGTGGGTTTGTGAATGGGTGAGTG GGTGGATGGGTGGATGCATGGATCAGTGTTTAGATAGGTGGATGTGTGAG TGGATGCATTGATGGTTGATGGGTAGATGGATGGGTGGATGTATAGATGA GTAGGTGGATGGGTGGGTGGATGGATGCGTGGATAGATGGATGAGTGGGT GGATGGATGGATGCATGGATGGGTGGATGGATGGGTGGGTGGATGGGAGG GTGGATGGATGGATGAACTGTAGGTGAGTTTGTGAATGGGTGGGTAGGTG GGTGAATGGGTGGATGGATGAATCCGTGTTTAAATAGGTGGATGTGTGGG TGGATGAATTGATCGGTTGATGGGTAGATGGATGGGTGGATGTCTGGGTG GTTGGATATATAGATGAGTAGGTAGATGGGTGGGTGGATGGATGGGTGAG TAGATGGATGAGTGGGTGGATGGGTGGATGGATGGATGATGAATGGATGG GGATGGGTAGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02897.hp1 HG03195.hp2 others(3): Show HG02622.hp2 HG02897.hp1 HG03195.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0006 a0001c0001t0024 a0001c0001t0027 others(2): Show a0001c0001t0006 a0001c0001t0024 a0001c0001t0027 a0001c0003t0005 a0001c0004t0010	a0001c0001t0006g0020 a0001c0001t0024g0066 a0001c0001t0027g0047 others(3): Show a0001c0001t0006g0020 a0001c0001t0024g0066 a0001c0001t0027g0047 a0001c0003t0005g0043 a0001c0004t0010g0041 a0001c0004t0010g0111	6	101	0.0594	510	c.-24 others(527): Show c.-24-7188_-24-7187insGCTACCCATCCCCATCCATTCATCATCC ATCCATCCACCCATCCACCCACTCATCCATCTACTCACCCATCCATCCAC CCACCCATCTACCTACTCATCTATATATCCAACCACCCAGACATCCACCC ATCCATCTACCCATCAACCGATCAATTCATCCACCCACACATCCACCTAT TTAAACACGGATTCATCCATCCACCCATTCACCCACCTACCCACCCATTC ACAAACTCACCTACAGTTCATCCATCCATCCACCCTCCCATCCACCCACC CATCCATCCACCCATCCATGCATCCATCCATCCACCCACTCATCCATCTA TCCACGCATCCATCCACCCACCCATCCACCTACTCATCTATACATCCACC CATCCATCTACCCATCAACCATCAATGCATCCACTCACACATCCACCTAT CTAAACACTGATCCATGCATCCACCCATCCACCCACTCACCCATTCACAA ACCCACCCACCATTCATCCACCCACCCATCCA		P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1						chrX	TogoVar
P2RY8_chrX_1457581_1542185	1473769	A A	ATGGATGG others(503): Show ATGGATGGGTGGGTGGATGAATGGTGGGTGGGTTTGTGAATGGGTGAGTG GGTGGATGGGTGGATGCATGGATCAGTGTTTAGATAGGTGGATGTGTGAG TGGATGCATTGATGGTTGATGGGTAGATGGATGGGTGGATGTATAGATGA GTAGGTGGATGGGTGGGTGGATGGATGGGTGGATAGATGGATGAGTGGGT GGATGGATGGATGCATGGATGGGTGGATGGATGGGTGGGTGGATGGGAGG GTGGATGGATGGATGAACTGTAGGTGAGTTTGTGAATGGGTGGGTAGGTG GGTGAATGGGTGGATGGATGAATCCGTGTTTAAATAGGTGGACGTGTGGG TGGATGAATTGATCGGTTGATGGGTAGATGGATGGGTGGATGTCTGGGTG GTTGGATATATAGATGAGTAGGTAGATGGGTGGGTGGATGGATGGGTGAG TAGATGGATGAGTGGGTGGATGGGTGGATGGATGGATGATGAATGGATGG GGATGGGTAGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp2 HG02809.hp1 others(4): Show HG02451.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02897.hp2 HG03209.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0003t0003 a0001c0003t0005 a0001c0003t0012 a0001c0003t0013	a0001c0001t0003g0061 a0001c0001t0005g0009 a0001c0001t0006g0057 others(4): Show a0001c0001t0003g0061 a0001c0001t0005g0009 a0001c0001t0006g0057 a0001c0003t0003g0019 a0001c0003t0005g0021 a0001c0003t0012g0002 a0001c0003t0013g0001	7	102	0.0686	510	c.-24 others(527): Show c.-24-7188_-24-7187insGCTACCCATCCCCATCCATTCATCATCC ATCCATCCACCCATCCACCCACTCATCCATCTACTCACCCATCCATCCAC CCACCCATCTACCTACTCATCTATATATCCAACCACCCAGACATCCACCC ATCCATCTACCCATCAACCGATCAATTCATCCACCCACACGTCCACCTAT TTAAACACGGATTCATCCATCCACCCATTCACCCACCTACCCACCCATTC ACAAACTCACCTACAGTTCATCCATCCATCCACCCTCCCATCCACCCACC CATCCATCCACCCATCCATGCATCCATCCATCCACCCACTCATCCATCTA TCCACCCATCCATCCACCCACCCATCCACCTACTCATCTATACATCCACC CATCCATCTACCCATCAACCATCAATGCATCCACTCACACATCCACCTAT CTAAACACTGATCCATGCATCCACCCATCCACCCACTCACCCATTCACAA ACCCACCCACCATTCATCCACCCACCCATCCA		P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1						chrX	TogoVar
P2RY8_chrX_1457581_1542185	1473769	A A	ATGGATGG others(503): Show ATGGATGGGTGGGTGGATGAATGGTGGGTGGGTTTGTGAATGGGTGAGTG GGTGGATGGGTGGATGCATGGATCAGTGTTTAGATAGGTGGATGTGTGAG TGGATGCATTGATGGTTGATGGGTAGATGGATGGGTGGATGTATAGATGA GTAGGTGGATGGGTGGGTGGATGGATGGGTGGATAGATGGATGAGTGGGT GGATGGATGGATGCATGGATGGGTGGATGGATGGGTGGGTGGATGGGAGG GTGGATGGATGGATGAACTGTAGGTGAGTTTGTGAATGGGTGGGTAGGTG GGTGAATGGGTGGATGGATGAATCCGTGTTTAAATAGGTGGATGTGTGGG TGGATGAATTGATCGGTTGATGGGTAGATGGATGGGTGGATGTCTGGGTG GTTGGATATATAGATGAGTAGGTAGATGGGTGGGTGGATGGATGGGTGAG TAGATGGATGAGTGGGTGGATGGGTGGATGGATGGATGATGAATGGATGG GGATGGGTAGC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01070.hp2 HG01074.hp1 others(1): Show HG00733.hp1 HG01070.hp2 HG01074.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0002c0002t0009	a0001c0001t0001g0055 a0001c0001t0002g0051 a0001c0001t0008g0100 others(1): Show a0001c0001t0001g0055 a0001c0001t0002g0051 a0001c0001t0008g0100 a0002c0002t0009g0007	4	99	0.0404	510	c.-24 others(527): Show c.-24-7188_-24-7187insGCTACCCATCCCCATCCATTCATCATCC ATCCATCCACCCATCCACCCACTCATCCATCTACTCACCCATCCATCCAC CCACCCATCTACCTACTCATCTATATATCCAACCACCCAGACATCCACCC ATCCATCTACCCATCAACCGATCAATTCATCCACCCACACATCCACCTAT TTAAACACGGATTCATCCATCCACCCATTCACCCACCTACCCACCCATTC ACAAACTCACCTACAGTTCATCCATCCATCCACCCTCCCATCCACCCACC CATCCATCCACCCATCCATGCATCCATCCATCCACCCACTCATCCATCTA TCCACCCATCCATCCACCCACCCATCCACCTACTCATCTATACATCCACC CATCCATCTACCCATCAACCATCAATGCATCCACTCACACATCCACCTAT CTAAACACTGATCCATGCATCCACCCATCCACCCACTCACCCATTCACAA ACCCACCCACCATTCATCCACCCACCCATCCA		P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1						chrX	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(503): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCA GAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	50	0.0200	510	c.129 others(527): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTA TTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTG AAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAA		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17						chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(503): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCA GAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCTGAATAGATCTATTCGGATCTATTCT GAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0234 a0001c0001t0004g0234	1	50	0.0200	510	c.129 others(527): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCAGAATAGATCCGAATAG ATCTATTCAGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTA TTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTG AAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAA		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17						chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(503): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCA GAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0144 a0002c0007t0002g0144	1	50	0.0200	510	c.129 others(527): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCTA TTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTG AAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAA		PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17						chr7	TogoVar
PHF21B_chr22_44876162_45015005	44884402	C C	CACCACCA others(503): Show CACCACCATCACCACCACCATGATCACCATCGTCACCACCACCACCATCA CTGTGATCAGCACCATCATCACCACCATCACCACAACCATGATCGCCATT ATCACCACCGCCACCACCATCACTGTGATCAGCACCATCACCACCACCAT CACCACCACCATGATCACCATTATCACCACCGCCACCACCATCACTGTGA TCAGCACCATCACCATCATGATCACCATTATCACCACCACCACCATCACT GTGATCAGCACCATCACCACCATCATTACCACCATCACCACCACGATCAC CAACGTCACCACCACCACCACCACTGTGATCAGCACCATCACCACCATCA TCACTACCACCATCACCACCACCATGATCACCATTATCACCACCACCACC ATCACTGTGATCAGCACCATCACCACCATCATTACCACCAACACCACCAC GATCACCAACGTCACCACCACCACCACCACTGTGATCAGCACCATCACCA CCATCATCACT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA19000.hp1 NA19010.hp2 NA18939.hp2 NA19000.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0002 a0001c0001t0022	a0001c0001t0002g0121 a0001c0001t0022g0273 a0001c0001t0022g0274 a0001c0001t0002g0121 a0001c0001t0022g0273 a0001c0001t0022g0274	3	104	0.0288	510	c.137 others(529): Show c.1377+1023_1377+1024insAGTGATGATGGTGGTGATGGTGCTGA TCACAGTGGTGGTGGTGGTGGTGACGTTGGTGATCGTGGTGGTGTTGGTG GTAATGATGGTGGTGATGGTGCTGATCACAGTGATGGTGGTGGTGGTGAT AATGGTGATCATGGTGGTGGTGATGGTGGTAGTGATGATGGTGGTGATGG TGCTGATCACAGTGGTGGTGGTGGTGGTGACGTTGGTGATCGTGGTGGTG ATGGTGGTAATGATGGTGGTGATGGTGCTGATCACAGTGATGGTGGTGGT GGTGATAATGGTGATCATGATGGTGATGGTGCTGATCACAGTGATGGTGG TGGCGGTGGTGATAATGGTGATCATGGTGGTGGTGATGGTGGTGGTGATG GTGCTGATCACAGTGATGGTGGTGGCGGTGGTGATAATGGCGATCATGGT TGTGGTGATGGTGGTGATGATGGTGCTGATCACAGTGATGGTGGTGGTGG TGACGATGGTGATCATGGTGGTGGTGATGGTGGT		PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	12/12						chr22	TogoVar
PTP4A3_chr8_141387021_141437454	141429798	A A	GCAGGGTG others(503): Show GCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGG GGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGG GGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCG GGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGC GGGGGCAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCAGGTGG CGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGTG GCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGT GGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGG TGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAG GTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCA GGTGGCGGGGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	166	0.0060	510	c.405 others(527): Show c.405-1130_405-1129insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGCCCGGGT CCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGG TCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGG GTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCA CGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCAGGTGGCGGGG		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5						chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429798	A A	GCAGGGTG others(503): Show GCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGG GGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGG GGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCG GGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGC GGGGGCAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGTGG CGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGTG GCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGT GGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGG TGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAG GTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCA GGTGGCGGGGA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03669.hp2 NA18947.hp2 others(2): Show HG03239.hp2 HG03669.hp2 NA18947.hp2 NA18990.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0104 a0001c0001t0001g0189 a0001c0001t0001g0236 others(2): Show a0001c0001t0001g0104 a0001c0001t0001g0189 a0001c0001t0001g0236 a0001c0001t0001g0258 a0001c0001t0004g0084	5	170	0.0294	510	c.405 others(527): Show c.405-1130_405-1129insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGCCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGG TCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGG GTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCA CGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCAGGTGGCGGGG		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5						chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429798	A A	GCAGGGTG others(503): Show GCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGG GGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGG GGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCG GGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGC GGGGGCAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGTGG CGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGTG GCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGT GGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGG TGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAG GTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAGGGACCA GGTGGCGGGGA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	166	0.0060	510	c.405 others(527): Show c.405-1130_405-1129insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGCCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGG TCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGG GTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCA CGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAGGGACCAGGTGGCGGGG		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5						chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429798	A A	GCAGGGTG others(503): Show GCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGG GGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGG GGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCG GGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGC GGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGG CGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGTG GCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGT GGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGG TGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAG GTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCA GGTGGCGGGGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG01074.hp1 others(24): Show HG00544.hp2 HG00609.hp2 HG01074.hp1 HG01081.hp1 HG01175.hp1 HG01257.hp2 HG01517.hp1 HG01993.hp1 HG02055.hp2 HG02135.hp1 HG02735.hp2 HG03017.hp2 HG04199.hp1 NA18612.hp2 NA18943.hp1 NA18952.hp2 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18974.hp1 NA18982.hp1 NA18995.hp1 NA19010.hp1 NA19064.hp1 NA19066.hp2 NA19091.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0089 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0089 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0001g0244 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0268 a0001c0001t0001g0275 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0094 a0001c0001t0004g0240	27	192	0.1406	510	c.405 others(527): Show c.405-1130_405-1129insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGG TCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGG GTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCA CGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCAGGTGGCGGGG		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5						chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429798	A A	GCAGGGTG others(503): Show GCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGG GGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGG GGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCG GGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGC GGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGG CGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTG GCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGT GGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGG TGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAG GTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCA GGTGGCGGGGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02559.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0178 a0001c0001t0001g0139 a0001c0001t0001g0178	2	167	0.0120	510	c.405 others(527): Show c.405-1130_405-1129insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGG TCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGG GTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCA CGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCAGGTGGCGGGG		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5						chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429838	A A	AGGTGGCG others(503): Show AGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGAC CAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGA CCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGG ACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAG GACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAA GGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTA AGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGT AAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTG TAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCT GTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGC TGTAAGGACCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	315	0.0032	510	c.405 others(527): Show c.405-1079_405-1078insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGG TCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCAC GTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCG GGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCCGGTGGCGGGG		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429838	A A	AGGTGGCG others(503): Show AGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGAC CAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGA CCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGG ACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAG GACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAA GGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTA AGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGT AAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTG TAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCT GTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGC TGTAAGGACCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02886.hp1 HG03041.hp2 others(2): Show HG02109.hp2 HG02886.hp1 HG03041.hp2 HG03453.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0035 a0001c0001t0001 a0001c0001t0035	a0001c0001t0001g0040 a0001c0001t0001g0298 a0001c0001t0001g0299 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0035g0297	5	319	0.0157	510	c.405 others(527): Show c.405-1079_405-1078insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGG TCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCAC GTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCG GGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCCGGTGGCGGGG		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429889	A A	AGGTGGCG others(503): Show AGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGAC CAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGA CCAGGTGGCGGGGGCAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGG ACCCGGTGGCGGGGGCAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAG GACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAA GGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTA AGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGT AAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTG TAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCT GTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGC TGTAAGGACCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	170	0.0059	510	c.405 others(527): Show c.405-1028_405-1027insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGCCCGGGTCC CCGCTGTAAGGACCCGGTGGCGGGGGCAGGGTGAGCGCACAGCCCGGGTC CCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACG TCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGG GTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCG GGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCCGGTGGCGGGG		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429889	A A	AGGTGGCG others(503): Show AGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGAC CAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGA CCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGG ACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAG GACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAA GGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTA AGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGT AAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTG TAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCT GTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGC TGTAAGGACCC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0115 a0001c0001t0036g0115	1	170	0.0059	510	c.405 others(527): Show c.405-1028_405-1027insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGTC CCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACG TCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGG GTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCG GGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCCGGTGGCGGGG		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429889	A A	AGGTGGCG others(503): Show AGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGAC CAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGA CCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGG ACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAG GACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAA GGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTA AGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGT AAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTG TAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCT GTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGC TGTAAGGACCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02922.hp2 HG02109.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0047 a0001c0001t0001g0048	2	171	0.0117	510	c.405 others(527): Show c.405-1028_405-1027insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACG TCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGG GTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCG GGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCCGGTGGCGGGG		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429889	A A	AGGTGGCG others(503): Show AGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGAC CAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGA CCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGG ACCCGGTGGCGGGGGCAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAG GACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAA GGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTA AGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGT AAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTG TAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCT GTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGC TGTAAGGACCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02965.hp2 HG02280.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	171	0.0117	510	c.405 others(527): Show c.405-1028_405-1027insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCCGGTGGCGGGGGCAGGGTGAGCGCACAGCCCGGGTC CCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACG TCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGG GTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCG GGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCCGGTGGCGGGG		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141430013	G G	GCACAGTC others(503): Show GCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAG CGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGA GCGCACAGCCCACGTCCCCGCTGTAAGGACCAGATGGCGGGGACAGGGTG AGCACACAGCCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGT GAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGG TGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGG GTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAG GGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACA GGGTGAGCGTACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGAC AGGGTGAGCGTACAGCCCAGGTTTCCGCTGTAAGGACCAGGTGGCGGGGA CAGGGTGAGCA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	164	0.0061	510	c.405 others(525): Show c.405-907_405-906insCGGGTCCCCGCTGTAAGGACCCGGTGGCGG GGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCG GGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGATGGC GGGGACAGGGTGAGCACACAGCCCGGGTCCCCGCTGTAAGGACCAGGTGG CGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTG GCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGT GGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGG TGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCG GTGGCGGGGACAGGGTGAGCGTACAGTCCGGGTCCCCGCTGTAAGGACCC GGTGGCGGGGACAGGGTGAGCGTACAGCCCAGGTTTCCGCTGTAAGGACC AGGTGGCGGGGACAGGGTGAGCACACAGTC		PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(503): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCCCCTCCTCCCCCCCTCCCTCCCCTCTCCTTCCTT CCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCT CCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTT TTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTA CACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTC CCTTTCCCTCCTCTTCCCTCTCCTCCCTTCCCGTCCCCTTCCCTCCCTTC CCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCC CTTCCCTCCCTTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCC CTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0027 a0001c0004t0027	a0001c0004t0027g0092 a0001c0004t0027g0092	1	10	0.1000	510	c.80+ others(527): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCCTCCCT CCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCT CCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCT CCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTC CCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTT CCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCTCCTCCCTTCCCGTC CCCTTCCCTCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTC TCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCTTTCC CTCCCCTCCCCTCCCCTCCCTTCCCATCCCCT		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(503): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTCCCCTCTCCTTCCTTC CCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTC CCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTT TCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTAC ACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCC CTTTCCCTCCTCTTCCCTCTCCTCCCTTCCCGTCCCCTTCCCTCCCTTCC CCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCC TTCCCTCCCTTCCCCTCCCCTCCCCCTCCCTTTCCCTCCCCTCCCCTCCC CTCCCTTCCCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0127 a0001c0004t0009g0127	1	10	0.1000	510	c.80+ others(527): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTC CCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTC CCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTC CCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCC CCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTC CCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCTCCTCCCTTCCCGTCC CCTTCCCTCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCT CCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCCTCCCTTTCC CTCCCCTCCCCTCCCCTCCCTTCCCATCCCCT		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(503): Show GGAGGGGAAGGCGTGGGGAGGAGGGGAAGGCATGGGGAGGAGGGGGCCAC ATGGGGAGGAGCGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGG GGGCTGTGAGGAGAGGAGGGGGGCCCCGTGGGGAGGAGGGGAAGGCTTGG GGAGGAGGGGGCCGCGAGGGGGAGGAGGGAGCCGCGTGGGGAGGAGGGGG CCACATGGGGAGGAGGCGCCGCGTGGGGAGGAGGGGGCCGTGAGGAGAGG AGGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGGGGAGGAGGGGGGGCGC GTGGGGAGGAGAGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGG GGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGG GAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCC CGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGA GGGGGCCGCGC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	3	0.3333	510	c.159 others(527): Show c.1590+407_1590+408insGCGCGGCCCCCTCCTCCCCACACGGCGC CTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGGCCCCCTCCTCCCCAC GCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACGCGGCCCCCTCC TCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCCTCCTCCCCACACGG CGCCTCCTCCCCACGCGGCCCTCTCCTCCCCACGCGCCCCCCCTCCTCCC CACGCCTTCCCCTCCTCCCCACGGGGCCCCCCTCCTCTCCTCACGGCCCC CTCCTCCCCACGCGGCGCCTCCTCCCCATGTGGCCCCCTCCTCCCCACGC GGCTCCCTCCTCCCCCTCGCGGCCCCCTCCTCCCCAAGCCTTCCCCTCCT CCCCACGGGGCCCCCCTCCTCTCCTCACAGCCCCCTCCTCCCCACGCGGC CCCCTCCTCCCCTCGCGGCCCGCTCCTCCCCATGTGGCCCCCTCCTCCCC ATGCCTTCCCCTCCTCCCCACGCCTTCCCCTC		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23						chr13	TogoVar
RECQL4_chr8_144506288_144522833	144513834	A A	GAGGGGTC others(503): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	199	0.0050	510	c.205 others(522): Show c.2058+94delTinsACTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513834	A A	GAGGGGTC others(503): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGTGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGGCGGT GGGGAGTGAGT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0066 a0003c0003t0001g0066	1	199	0.0050	510	c.205 others(522): Show c.2058+94delTinsACTCACTCCCCACCGCCCACGCCGACCCCTACTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACTGCACACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTACTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(503): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGAG GGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGG AGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGAGGAGGGGAGGGGGGAG GAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAG GGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGG GAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGA GGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGG GGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGG AGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	30	0.0333	510	c.36 others(521): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGG GGGGAGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGAG GAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGA GGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGG AGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGG AGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAG GAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGG ACGGGGGAGGAGGGGAGGGGGGAGGG		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding					2923		chr19	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(503): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	81	0.0123	510	c.132 others(527): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT		RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24						chr4	TogoVar
RNF223_chr1_1065967_1079306	1076389	T T	CGGGGACT others(503): Show CGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTA CGGGGACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAG GCTGAGTCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTATGGGGACTCC GTGAGGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTA TGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAG GCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCC GTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTA TGGGGACTCCGTCGGGGGAGGCTGAGGCTATGGGGACTCCGTCGGGGGAG GCTGAGGCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	213	0.0047	510	c.-23 others(521): Show c.-2383_-2382insTAGCCTCAGCCTCCCCCGACGGAGTCCCCATAGC CTCAGCCTCCCCCGACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAG TCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGC CTCAGCCACCCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAG TCCCCATAGACTCAGCCACCCCTCACGGAGTCCCCATAGACTCAGCCTCC CCGCACGGAGTCCCCGTAGACTCAGCCTCCCGGCACGGAGTCCCCGTAGC CTCAGCCTCCCGGCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAG TCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCC CCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGC CTCAGCCTCCCCCCACGGAGTCCCCG		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2083		chr1	TogoVar
RPH3AL_chr17_207389_357807	217802	C C	CCCAAGGC others(503): Show CCCAAGGCATTTCATTCCTGTTTGGGGCAGTTATTACAGAGCCCTTCTTC TGCGCTAAAATTGGCCTCACTGGAATCAGGACCCCCAAGGCATTTCGTTC CCATCTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTG GCCTCGCTGAAATCAGGACCCCCAAGGCATTTCATTCCCATCTGGGGCAG TTATTACAGAGCCCTTCTTCTGCGCTAAAATTGCCCTCACTGGAATCAGG ACCCCGAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTT CTTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCCCCAAGGCAT TTCATTCCTGTTTGGGGCAGTTACTACAGAGCCCTTCTTCTGCGCTAAAA TTGGCCTCACTGGAATCAGGACCCCCAAGGCATTTCGTTCCCATCTGGGG CAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGCTGA AATCAGGACCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01515.hp1 HG02055.hp1 HG00140.hp2 HG01515.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0016 a0001c0001t0020 a0001c0003t0018 a0001c0001t0016 a0001c0001t0020 a0001c0003t0018	a0001c0001t0016g0093 a0001c0001t0020g0127 a0001c0003t0018g0019 a0001c0001t0016g0093 a0001c0001t0020g0127 a0001c0003t0018g0019	3	86	0.0349	510	c.727 others(527): Show c.727+1820_727+1821insAGGTCCTGATTTCAGCGAGGCCAATTTT AGTGCAGAAGAAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAA ATGCCTTGGGGGTCCTGATTCCAGTGAGGCCAATTTTAGCGCAGAAGAAG GGCTCTGTAGTAACTGCCCCAAACAGGAATGAAATGCCTTGGGGGTCCTG ATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAA CTGCCCCAGATGGGAACGAAATGCCTTCGGGGTCCTGATTCCAGTGAGGG CAATTTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCCAGATGGGAAT GAAATGCCTTGGGGGTCCTGATTTCAGCGAGGCCAATTTTAGTGCAGAAG AAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTGGG GGTCCTGATTCCAGTGAGGCCAATTTTAGCGCAGAAGAAGGGCTCTGTAA TAACTGCCCCAAACAGGAATGAAATGCCTTGG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	217823	C C	TTGGGGCA others(503): Show TTGGGGCAGTTATTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACT GGAATCAGGACCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATG GAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCC CCAAGGCATTTCATTCCCATCTGGGGCAGTTATTACAGAGCCCTTCTTCT GCGCTAAAATTGGCCTCACTGGAATCAGGACCCCGAAGGCATTTCGTTCC CATCTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGG CCTCGTTGAAATCAGGACCCCCAAGGCATTTCATTCCTGTTTGGGGCAGT TATTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACTGAAATCAGGA CCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTTC TTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCCCCAAGGCATT TCATTCCCATC	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18993.hp2 HG04184.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0003 a0001c0006t0004 a0001c0002t0003 a0001c0006t0004	a0001c0002t0003g0033 a0001c0006t0004g0022 a0001c0002t0003g0033 a0001c0006t0004g0022	2	123	0.0163	510	c.727 others(527): Show c.727+1800_727+1801insATGGGAATGAAATGCCTTGGGGGTCCTG ATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAA CTGCCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATTTCAGTGAGGC CAATTTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCCAAACAGGAAT GAAATGCCTTGGGGGTCCTGATTTCAACGAGGCCAATTTTAGTGCAGAAG AAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTCGG GGTCCTGATTCCAGTGAGGCCAATTTTAGCGCAGAAGAAGGGCTCTGTAA TAACTGCCCCAGATGGGAATGAAATGCCTTGGGGGTCCTGATTTCAGCGA GGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAACTGCCCCAGA TGGGAACGAAATGCCTTGGGGGTCCTGATTCCAGTGAGGCCAATTTTAGC GCAGAAGAAGGGCTCTGTAATAACTGCCCCAA		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	218312	C C	CCCAAGGC others(503): Show CCCAAGGCATTTCATTCCCATCTGGGGCAGTTATTACAGAGCCCTTCTTC TGCGCTAAAATTGGCCTCACTGGAATCAGGACCCCCAAGGCATTTCGTTC CCATCTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTG GCCTCGCTGAAATCAGGACCCCCAAGGCATTTCATTCCCATCTGGGGCAG TTATTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACTGGAATCAGG ACCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTT CTTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCCCCAAGGCAT TTCATTCCTGTTTGGGGCAGTTATTACAGAGCCCTTCTTCTGCGCTAAAA TTGGCCTCACTGGAATCAGGACCCCCAAGGCATTTCGTTCCCATCTGGGG CAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGCTGA AATCAGGACCT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	94	0.0106	510	c.727 others(527): Show c.727+1310_727+1311insAGGTCCTGATTTCAGCGAGGCCAATTTT AGTGCAGAAGAAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAA ATGCCTTGGGGGTCCTGATTCCAGTGAGGCCAATTTTAGCGCAGAAGAAG GGCTCTGTAATAACTGCCCCAAACAGGAATGAAATGCCTTGGGGGTCCTG ATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAA CTGCCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATTCCAGTGAGGC CAATTTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCCAGATGGGAAT GAAATGCCTTGGGGGTCCTGATTTCAGCGAGGCCAATTTTAGTGCAGAAG AAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTGGG GGTCCTGATTCCAGTGAGGCCAATTTTAGCGCAGAAGAAGGGCTCTGTAA TAACTGCCCCAGATGGGAATGAAATGCCTTGG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9						chr17	TogoVar
RRBP1_chr20_17608679_17687242	17659162	C C	CCCTGGTT others(503): Show CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0118 a0005c0118	a0005c0118t0002 a0005c0118t0002	a0005c0118t0002g0148 a0005c0118t0002g0148	1	345	0.0029	510	c.134 others(519): Show c.1345_1346insACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGG	p.Gln others(523): Show p.Gln448_Gly449insAspLysLysAlaGluGlyAlaGlnAsnGlnGl yArgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaG lnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla GluGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGl yLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrP roAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAla GluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGl yLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrP roAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAla GluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGl yLysLysAlaGluGlyAlaGlnAsnGln	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1658/5049	1345/4233	449/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(503): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGATCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01243.hp2 HG01243.hp2	a0036 a0036	a0036c0069 a0036c0069	a0036c0069t0002 a0036c0069t0002	a0036c0069t0002g0286 a0036c0069t0002g0286	1	35	0.0286	510	c.129 others(519): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGATCCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(523): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProIleGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar

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