Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(626): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCC CCGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGGTCAGCACC CCGCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTC CGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	102	0.0098	633	c.737 others(652): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAG TAGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCAGGCGGGGTGCTGACCCCCCCCACCTCCTTCCCGGACGGGGCAGCTGG CCGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGGCGGCTGG CCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCC ACCTCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(626): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGGTCAGCACCC CGCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTC CGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	102	0.0098	633	c.737 others(652): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCA GTAGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTG GCCAGGCGGGGTGCTGACCCCCCCCACCTCCTTCCCGGACGGGGCAGCTG GCCGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCC ACCTCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
CTSD_chr11_1747755_1768927	1754499	T T	TGGGGATG others(626): Show TGGGGATGGAGGGATGGAGGGATGGAGGGGATGTGGGGATGGAGGGATGG AGGGATGGAGGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGGGATG GAGGGATGGAGGAGATGGAGGGTCATGAAGAGTCACAGAGGGATGAGGGG ATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGGGATGGAGGG ATGGAGGGGATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGG ATGGAGGGATGGAGGGGATGGAGGGATGGAGGGATAGACAGATGGAGGGG ATGGAGGGTCATGGAGAGTCACAGAGGGATGTGGGGATGGAGGGATGGAG GGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGAGATGGAGGGTCATG AAGAGTCACAGAGGGATGAGGGGATGGAGGGATGGAGGGATGGAGGGGAT GGAGGGGATGGAGGGGCATAGAGGGATGGAGGGGATGGAGGGGATGAAGG GATGGAGGGGCATGGAGGGATGGAGGGATGGAGGGATAGACAGATGGAGG GGATGGAGGGTCATGGAGAGTCACAGAGGGATGTGGGGATGGAGGGATGG AGGGATGGAGGGGATGGAGGGATGGAGGGATGGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	378	0.0026	633	c.828 others(648): Show c.828-362_828-361insTCCATCCCTCCATCCCTCCATCCCCTCCAT CCCTCCATCCCTCCATCCCCACATCCCTCTGTGACTCTCCATGACCCTCC ATCCCCTCCATCTGTCTATCCCTCCATCCCTCCATCCCTCCATGCCCCTC CATCCCTTCATCCCCTCCATCCCCTCCATCCCTCTATGCCCCTCCATCCC CTCCATCCCCTCCATCCCTCCATCCCTCCATCCCCTCATCCCTCTGTGAC TCTTCATGACCCTCCATCTCCTCCATCCCTCCATCCCCTCCATCCCTCCA TCCCCTCCATCCCTCCATCCCCACATCCCTCTGTGACTCTCCATGACCCT CCATCCCCTCCATCTGTCTATCCCTCCATCCCTCCATCCCCTCCATCCCT CCATCCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCTCCATCCCCT CCATCCCTCCATCCCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCT CCATCCCCTCATCCCTCTGTGACTCTTCATGACCCTCCATCTCCTCCATC CCTCCATCCCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCCTCCAT CCCTCCATCCCTCCATCCCCACATCCCCTCCATCCCTCCATCCCTCCATC CCC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
DEAF1_chr11_639233_700222	642838	C C	CCAGGCGG others(626): Show CCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAG GAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGC TGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGCCAG GCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAC AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGCTGAGGGTCAGAGGAA GGGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCA GAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAA GGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGCGGGCTGAGG GTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGG CGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0145 a0001c0003t0001g0145	1	144	0.0069	633	c.17 others(644): Show c.1711_*1712insCCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTC ACCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCAGCCCG CCTGCCCCTCACCCCGCCTGACCCTCACCCCGCCTGGCCCTTCCTCTGAC CCTCAGCCCGCCTGCCCCTCACCCCGCCTGACCCTCACCCCGCCTGGCCC TTCCTCTGACCCTCAGCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTC TGCCCCTCACCCCGCCTGGCCCTTCCTCTGCCCCTCACCCCGCCTGGCCC TTCCTCTGACCCTCAGCCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCT GTGACCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGGCC CTTCCTCTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCAGCCCGC CTGGCCCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCA GCCCGCCTGGCTCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCCTCTGA CCCTCACCCCGCCTGGCTCTTCCTGTGACCCTCACCCCGCCTGGCCCTTC CTCTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCACCCCGCCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding		1394		chr11	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(626): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGT GAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	164	0.0061	633	c.-42 others(644): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619246	C C	CCCCCCCT others(626): Show CCCCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCA TGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCT GCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCC CTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	239	0.0042	633	c.-10 others(652): Show c.-107+5533_-107+5534insTGCTCCCTCCCTGCAGCCCCCTGCCC CCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCTCCCTGCA GCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTC CCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGC AGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGC CCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGC AGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCAT GCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DRD4_chr11_632269_645706	642838	C C	CCAGGCGG others(626): Show CCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAG GAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGC TGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGCCAG GCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAC AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGCTGAGGGTCAGAGGAA GGGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCA GAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAA GGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGCGGGCTGAGG GTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGG CGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0005 a0004c0005t0001g0005	1	172	0.0058	633	c.22 others(644): Show c.2235_*2236insCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCG GGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGC CAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGG AAGAGCCAGGCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGT CACAGGAAGGGCCAGGCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGG CGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGC TGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAG GCGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGC TGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGG GCAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGC GGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTG AGGGGCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGG	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding		2133		chr11	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(626): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTCGTGGGAGATGGTGGGAGGT AGTGGGAGACAGTGGCAGACAGTGGGAGGTGGTGGGAGATGGTGGCAGAC GGTGGGAGGTGGTGGGAGACAGTGGGAAGTGGTGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTAGGAGACGGTGGGAGGTGGTGGGAGACACTCGGAGAC GGTGGGATGTGGTGGGAGGTAGTGGGAGACATTGGCAGACGGTGGGAGGT GGTGGGAGATGGTGAGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAT GGCGGGAGGTGGTGGGAGACGGTGGGAGGTGGTGGGAGGTGGTGGGAGAC GGAGAAGGTGGGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTG GGAGGTCGTGGGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGATGGTG GGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGATGGCGGGAGGTGGTG GGAAGTGGTGGGAGACGGAGATGGTGGGAGACGGTGGGAGACGGCGGGAG GTGGAGGGAGGCGGCGGGAGATGGCGGGAGGTGGCAGGAGACGCTGGGAG GGTGGCAGGAGACGGTGGGAGGTGGTGGGAGACA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0051 a0002c0001t0002g0051	1	164	0.0061	633	c.127 others(648): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCGTCTCCTGC CACCCTCCCAGCGTCTCCTGCCACCTCCCGCCATCTCCCGCCGCCTCCCT CCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCTCCCACCAC TTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCTCCCACCAC CTCCCACCATCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGAC CTCCCACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTT CTCCGTCTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCC CGCCATCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCC CACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCC CACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTCC CACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCC CACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCC CACTACCTCCCACCATCTCCCACGACCTCCCACCATCTCCCACGACCTCC CAC	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
EHMT1_chr9_137614005_137841127	137716477	T T	TTGGTGTC others(626): Show TTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAG GAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGG GGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGG TGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGT GTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGG GGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATG GTGGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG GTGTCATGGTGGGGAGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGTCATGGTGGGGGGGGAGGAAGTTGTGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0059 a0001c0003t0001g0059	1	143	0.0070	633	c.86- others(646): Show c.86-103_86-102insGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAA GTTGTGGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGGTGTCATGGTG GGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAGGAAG TTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGT GTCATGGTGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGGTGTCATGGTGGGGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGAGGAGGAAGTTGTGG TGGTGTCATGGTGGGGGAGGAAGTTGTGTCATGGTGGGGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGG G	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
GALNT9_chr12_132191372_132334589	132241229	C C	CTCCCTAT others(626): Show CTCCCTATACCCATTTACACACACGCCACGCCCCGTTCGCGGGGCCCTCC CTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATA CCCATTACACACACACCACACACCCTTCCAGGGGCCCTCCCTATACCCAT TACACACACGCCACACACCCTTCCAGGGGCCCTCCCTATACCCATTACAC ACACGCCACACACCCTTCCCAGAGCCGTCCCTATACCCATTACACACACG CCACACACCCTTCCCGGGGCCATCCCTATACCCATTACACACACGCCACA CACCCTTCCCGGGGCCATCCCTATACCCATTACACACACGCCACACACCC TTCCCAGGGCCGTCCCTATACCCATTACACACACAACACACACCCTTCCA GGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGG GCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCT CCCTATACCCATTACACACACGCCACGGACCCTTCCCAGGGCCGTCCCTA TACCCATTACACACACAACACACACCCTTCCCGGGGCCATCCCTATACCC ATTACACACACACCACACACCCTTCCCAGGGCCG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0047 a0001c0018t0001g0047	1	170	0.0059	633	c.107 others(652): Show c.1077+6680_1077+6681insCGGCCCTGGGAAGGGTGTGTGGTGTG TGTGTAATGGGTATAGGGATGGCCCCGGGAAGGGTGTGTGTTGTGTGTGT AATGGGTATAGGGACGGCCCTGGGAAGGGTCCGTGGCGTGTGTGTAATGG GTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATA GGGAGGGCCCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGG AGGGCCCCTGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGACGGC CCTGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGATGGCCCCGG GAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGATGGCCCCGGGAAGG GTGTGTGGCGTGTGTGTAATGGGTATAGGGACGGCTCTGGGAAGGGTGTG TGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGCG TGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGTGTGTGT GTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAAT GGGTATAGGGAGGGCCCCGCGAACGGGGCGTGGCGTGTGTGTAAATGGGT ATAGGGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
HS3ST6_chr16_1906475_1923415	1920291	C C	CAATCTCA others(626): Show CAATCTCAGCTGTCCCCACGGTCTCAGGAGTCCCCACAGTCTCAGCTATC CCCATGGTCTCAGCCATCCCCGTGGTCTCAGCAGTCCCCATGGTCTCAGG AGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGCAGTCCCCACGGTCT CAGCCGTCCCCACGGTCTCAGGAGTCCCCACGGACTCAGCCGTCCCCAGG GTCTCAAGCCATCCCCAGGGTCTCAGCCGTCCCCACGGTCCCAGCCGTCC CCACCGTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCATGGTCTCAGCA GTCCCCACGGTCTCAGGAGTCCCCCACGGTCTCAGCAGTCCCCCACGGTC TCAGCCGTCCCCACCGTCTCAGGAGTCCCCACCATCTCAGCCGTCCCCAC GGTCTCAGGAGTCCCCATGGTCTCAACCGTCTCCACGGTCTCAGGAGTCC CCACGGTCTCAGGAGCCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGTC ATCCCCACGGTCCCAGCCGTCCCCACGGTCCAAGCCGTCCCCACGGTCCC AGCCGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCCGCAGTCCCCACGG TCTCAGCCATCCCCACGGTCTCAGGAGTCCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0052 a0003c0003t0001g0052	1	302	0.0033	633	c.-19 others(644): Show c.-1969_-1968insATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTTGGACCGTGGGGACGGCTGGGACCGTGGGGAT GACTGAGACCGTGGGGGCTCCTGAGACCGTGGGGGCTCCTGAGACCGTGG GGACTCCTGAGACCGTGGAGACGGTTGAGACCATGGGGACTCCTGAGACC GTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACGGTGGGGACGGCTGA GACCGTGGGGGACTGCTGAGACCGTGGGGGACTCCTGAGACCGTGGGGAC TGCTGAGACCATGGGGACGGCTGAGACCGTGGGGACTGCTGAGACGGTGG GGACGGCTGGGACCGTGGGGACGGCTGAGACCCTGGGGATGGCTTGAGAC CCTGGGGACGGCTGAGTCCGTGGGGACTCCTGAGACCGTGGGGACGGCTG AGACCGTGGGGACTGCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACT CCTGAGACCATGGGGACTGCTGAGACCACGGGGATGGCTGAGACCATGGG GATAGCTGAGACTGTGGGGACTCCTGAGACCGTGGGGACAGCTGAGATT	HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding		1877		chr16	TogoVar
ICA1_chr7_8108184_8267167	8152587	C C	CCACCACT others(626): Show CCACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACC ATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCATCAC CACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCA CCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTACCACCATC ACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCAC CACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCACCA TCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTCC ACCACCACCACCATCTCCTTCAACACCACTACCCCCAGCACTACCACCAT CACCTCTTCCACCACTACCACCATCTCCTTCATCACCACTACCCCCACCA CTACCACCATCACCTCCTCCACCATCACCACCACCACCACAACCACCATC TCCTTCATCACCACTACCCCCACCACTACCACCATCACCATCACCTCCAC CACCACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATCA CCATCACCTCCACCACCACCACCATCTCCTTCAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02630.hp1 HG01346.hp2 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0007 a0001c0002t0005g0129 a0001c0002t0005g0007 a0001c0002t0005g0129	2	226	0.0088	633	c.804 others(650): Show c.804+4528_804+4529insTTGAAGGAGATGGTGGTGGTGGTGGAGG TGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTG GTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGAT GAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGG TGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTAGTGGTGGAA GAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGGTGGT GGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGA AGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGG GTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGA GGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGG TTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGG GTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGGA GGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAG TGGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFITM10_chr11_1727406_1755595	1754499	T T	TGGGGATG others(626): Show TGGGGATGGAGGGATGGAGGGATGGAGGGGATGTGGGGATGGAGGGATGG AGGGATGGAGGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGGGATG GAGGGATGGAGGAGATGGAGGGTCATGAAGAGTCACAGAGGGATGAGGGG ATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGGGATGGAGGG ATGGAGGGGATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGG ATGGAGGGATGGAGGGGATGGAGGGATGGAGGGATAGACAGATGGAGGGG ATGGAGGGTCATGGAGAGTCACAGAGGGATGTGGGGATGGAGGGATGGAG GGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGAGATGGAGGGTCATG AAGAGTCACAGAGGGATGAGGGGATGGAGGGATGGAGGGATGGAGGGGAT GGAGGGGATGGAGGGGCATAGAGGGATGGAGGGGATGGAGGGGATGAAGG GATGGAGGGGCATGGAGGGATGGAGGGATGGAGGGATAGACAGATGGAGG GGATGGAGGGTCATGGAGAGTCACAGAGGGATGTGGGGATGGAGGGATGG AGGGATGGAGGGGATGGAGGGATGGAGGGATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0171 a0001c0008t0002g0171	1	400	0.0025	633	c.-40 others(644): Show c.-4058_-4057insTCCATCCCTCCATCCCTCCATCCCCTCCATCCCT CCATCCCTCCATCCCCACATCCCTCTGTGACTCTCCATGACCCTCCATCC CCTCCATCTGTCTATCCCTCCATCCCTCCATCCCTCCATGCCCCTCCATC CCTTCATCCCCTCCATCCCCTCCATCCCTCTATGCCCCTCCATCCCCTCC ATCCCCTCCATCCCTCCATCCCTCCATCCCCTCATCCCTCTGTGACTCTT CATGACCCTCCATCTCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCC CTCCATCCCTCCATCCCCACATCCCTCTGTGACTCTCCATGACCCTCCAT CCCCTCCATCTGTCTATCCCTCCATCCCTCCATCCCCTCCATCCCTCCAT CCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCTCCATCCCCTCCAT CCCTCCATCCCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCTCCAT CCCCTCATCCCTCTGTGACTCTTCATGACCCTCCATCTCCTCCATCCCTC CATCCCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCCTCCATCCCT CCATCCCTCCATCCCCACATCCCCTCCATCCCTCCATCCCTCCATCCCC	IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding		3905		chr11	TogoVar
IFNAR1_chr21_33319970_33364864	33323156	A A	ACGTATGG others(626): Show ACGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGA ATATATACGTATGGAATATATATATATGGAATATATACGTATGGAATATA TATATATGGAATATACGTATGGAATATATATATATGGAATATACGTATGG AATATATATATATGGAATATATATGTATGGAATATATATATGGAATATAT ATGTATGGAATATATATATGGAATATATATGTATGGAATATATGTATGGA ATATATATGTATGGAATATATATGTATGGAATATATATGTATGGAATATA TATATGGAATATATATGTATGGAATATATATATGGAATATATATGTATGG AATATATATATGGAATATATATATGGAATATATATGTATGGAATATATAT ATGGAATATATATGTATGGAATATACATATGGAATATATATGTTTGGAAT ATATATATATGGAATATATATGTATGGAATATATATATATGGAATATATG TATGGAATATATATATGGAATATATGTATGGAATATATATATATGGAATA TATGTATGGAATATATATATATGGAATATATGTATGGAATATATATATGG AATATATGTATGGAATATATATATGGAATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0232 a0002c0002t0002g0232	1	312	0.0032	633	c.-19 others(644): Show c.-1900_-1899insCGTATGGAATATATATATGGAATATATACGTATG GAATATATATATGGAATATATACGTATGGAATATATATATATGGAATATA TACGTATGGAATATATATATATGGAATATACGTATGGAATATATATATAT GGAATATACGTATGGAATATATATATATGGAATATATATGTATGGAATAT ATATATGGAATATATATGTATGGAATATATATATGGAATATATATGTATG GAATATATGTATGGAATATATATGTATGGAATATATATGTATGGAATATA TATGTATGGAATATATATATGGAATATATATGTATGGAATATATATATGG AATATATATGTATGGAATATATATATGGAATATATATATGGAATATATAT GTATGGAATATATATATGGAATATATATGTATGGAATATACATATGGAAT ATATATGTTTGGAATATATATATATGGAATATATATGTATGGAATATATA TATATGGAATATATGTATGGAATATATATATGGAATATATGTATGGAATA TATATATATGGAATATATGTATGGAATATATATATATGGAATATATGTAT GGAATATATATATGGAATATATGTATGGAATATATATATGGAATATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1813		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(626): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGC AGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGG AGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGG GAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGC AGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGG ACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	13	0.0769	633	c.978 others(650): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCA GGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGG GGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG ATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG AGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAG GGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA1958_chr9_112481827_112674397	112514853	G G	GGGGGGGT others(626): Show GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCC CAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCTCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0031 a0001c0001t0015g0031	1	119	0.0084	633	c.-25 others(652): Show c.-25+27741_-25+27742insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCTCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCC AGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGG	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIF25_chr6_167992671_168050091	167997483	G G	GGGGGCGG others(626): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATG GGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAA TGTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAAT CTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATG TGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG03654.hp1 HG02257.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0312 a0001c0001t0002g0313	2	368	0.0054	633	c.-19 others(644): Show c.-1986_-1985insGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGG GAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGAT GGGGGGTCGGGGGAATGTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGG TGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGG GGGGTCGGGGGAATGTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		187		chr6	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(626): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATATAT AAATATATATGTTTTGTAAATATATATAAATATATATATGTTTTGTAAAT ATATAAATATATATTTTGTAAATATATATATATTTTGTAAATATATATTG TAAATATATATAAATATATATTTTGTGAATTATATATATATTGTAAATTA TATATATATTTTGTAAATATATATAGTAAATATATATATTTTGTAAATAT GTATATATATTTTGTAAATATATATATTTTGTAAATATGTATATATATTT TGTAAATATATACATTTTGTAAATATATAAATATATACATTTTGTAAATA TATAAAAATATATACATTTTGTAAATATATAAAAATATATGTTGTAAATA TATAAAAATATATATATTTTGTAAATATATAAATATATATATTTTGTAAA TATATATAAATATATACATATTTTGTAAATATATAAATATATACATATTT TGTAAATCTATATAAATATATACATATTTTGTAAATCTATATAAATATAT ACATATTTTGTAAATCTATATAAATATATACATA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0048 a0048	a0048c0035 a0048c0035	a0048c0035t0002 a0048c0035t0002	a0048c0035t0002g0031 a0048c0035t0002g0031	1	40	0.0250	633	c.197 others(652): Show c.1974+1124_1974+1125insTATGTATATATTTATATAGATTTACA AAATATGTATATATTTATATAGATTTACAAAATATGTATATATTTATATA GATTTACAAAATATGTATATATTTATATATTTACAAAATATGTATATATT TATATATATTTACAAAATATATATATTTATATATTTACAAAATATATATA TTTTTATATATTTACAACATATATTTTTATATATTTACAAAATGTATATA TTTTTATATATTTACAAAATGTATATATTTATATATTTACAAAATGTATA TATTTACAAAATATATATACATATTTACAAAATATATATATTTACAAAAT ATATATACATATTTACAAAATATATATATTTACTATATATATTTACAAAA TATATATATAATTTACAATATATATATAATTCACAAAATATATATTTATA TATATTTACAATATATATTTACAAAATATATATATATTTACAAAATATAT ATTTATATATTTACAAAACATATATATATTTATATATATTTACAAAACAT ATATATTTATATATATTTACAAAACATATATATTTATATATATTTACAAA ACATATATATTTATATATATTTACAAAACATATATATATTTATATATATT TACAAAA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MPPED1_chr22_43407014_43512848	43500278	C C	CGGTGGTG others(626): Show CGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATG GAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGT GGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGA TGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATG GGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGT GGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGTGGTAATG GAGGTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGAT GGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTAA TGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTG GTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGT GGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGG TGATGGTGATGGAGGTGGCGGTGGTGATGGTGGT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0151 a0001c0001t0009g0151	1	85	0.0118	633	c.748 others(650): Show c.748+1939_748+1940insTGGTGGTGGTGATGGGGGTGGTGGTGGT GATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGG TGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTA GTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGA GGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGG TGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTG ATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGA GGTGGTAATGGAGGTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGG CAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGATG GAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATGGG GGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGTGG TAATGGAGGTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTG ATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTGGT GATGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500278	C C	CGGTGGTG others(626): Show CGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATG GAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGT GGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGA TGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATG GGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGT GGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGTGGTAATG GAGGTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGAT GGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTAA TGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTG GTGATGGTGATGGAGGTGGTGGTGATGGTGATGGAGGTGGTAATGGAGGT GGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGG TGATGGTGATGGAGGTGGCGGTGGTGATGGTGGT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0056 a0001c0002t0009g0056	1	85	0.0118	633	c.748 others(650): Show c.748+1939_748+1940insTGGTGGTGGTGATGGGGGTGGTGGTGGT GATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGG TGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTA GTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGA GGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGG TGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTG ATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGA GGTGGTAATGGAGGTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGG CAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGATG GAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATGGG GGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGTGATGGAGGTGG TAATGGAGGTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTG ATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTGGT GATGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MSLN_chr16_755734_773862	767629	A A	AGGGGCGC others(626): Show AGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTG GAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGT GGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGG GGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGG AGGGGGGCGCGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCG TGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGG AGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGC GCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAG GGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGG GTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGG AGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGG AGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCG TGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	357	0.0028	633	c.159 others(650): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGT GGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGG CGCGTGGAGGGGGGCGCGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGG GGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGG CACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAG GAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGT GGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCG CGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGC GTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGG GGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGG GGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGT GGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16189475	A A	ATATAAAA others(626): Show ATATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTA TATATGTTTTATATATATAAAATCTTATTTTATATATGTTTTATATATAT AAAATCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTATATA TGTTTTATATATATAAAATCTTATTTTATATATGTTTTATATATATAAAA TCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTATATATGTT TTATATATATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTT ATTTTATATATGTTTTATATATATAAAATCTTATTTTATATATGTTTTAT ATATATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTTATTT TATATATGTTTTATATATATAAAATCTTATTTTATATATGTTTTATATAT ATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTATA TATGTTTTATATATATAAAATCTTATTTTATATATGTTTTATATATATAA AATCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTATATATG TTTTATATATATAAAATCTTATTTTATATATGTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	263	0.0038	633	c.-5+ others(648): Show c.-5+3122_-5+3123insAACATATATAAAATAAGATTTTATATATAT AAAACATATATAAAATAAGATTTTATATATATAAAACATATATAAAATAA GATTTTATATATATAAAACATATATAAAATAAGATTTTATATATATAAAA CATATATAAAATAAGATTTTATATATATAAAACATATATAAAATAAGATT TTATATATATAAAACATATATAAAATAAGATTTTATATATATAAAACATA TATAAAATAAGATTTTATATATATAAAACATATATAAAATAAGATTTTAT ATATATAAAACATATATAAAATAAGATTTTATATATATAAAACATATATA AAATAAGATTTTATATATATAAAACATATATAAAATAAGATTTTATATAT ATAAAACATATATAAAATAAGATTTTATATATATAAAACATATATAAAAT AAGATTTTATATATATAAAACATATATAAAATAAGATTTTATATATATAA AACATATATAAAATAAGATTTTATATATATAAAACATATATAAAATAAGA TTTTATATATATAAAACATATATAAAATAAGATTTTATATATATAAAACA TATATAAAATAAGATTTTATATATATAAAACATATATAAAATAAGATTTT ATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250681	A A	AAGAAGAA others(626): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAG AGGAAGAGGAAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAAGAGGAA GAGGAAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAAGAAGAGGAAGA GGAAGAAGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAGGAAGAAG AAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAA GAAGAAGAAGAAGAGGAAGAAGAAGAAGAGGAAGAGGAAGAAGAGGAAGA GGAAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAAGAAGAGGAAGAGG AAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAAGAAGAGGAAGAGGAA GAAGAGGAAGAAGAGGAAGAAGAAGAGGAAGAGGAAGAAGAAGAAGAAGA GGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAG AAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	161	0.0062	633	c.677 others(648): Show c.677+224_677+225insCCTTCTTCTTCTTCTTCTTCTTCTTCTTCC TCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTC TTCCTCTTCTTCTTCTTCTTCCTCTTCCTCTTCTTCTTCCTCTTCTTCCT CTTCTTCCTCTTCCTCTTCTTCTTCCTCTTCCTCTTCTTCCTCTTCCTCT TCTTCCTCTTCCTCTTCTTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTC TTCCTCTTCCTCTTCTTCCTCTTCCTCTTCTTCTTCTTCCTCTTCTTCTT CTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC TCTTCTTCTTCCTCTTCTTCTTCTTCTTCCTCTTCCTCTTCCTCTTCTTC TTCCTCTTCCTCTTCTTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTCTTCCTCT TCCTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCT	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MUC4_chr3_195741771_195816929	195760642	G G	GAGGGGGC others(626): Show GAGGGGGCTGGGAAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGA AGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCAC TAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCGCTAGGATGGAGTGG AGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGAGTGGAGGGGCTGGGAAGGCATCCAGCACTAGGATGGATGGAG GGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGG GGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGTGTCCAGCGCTA GGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGA GGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGCTGGGAAGGC ATCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGG ATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGTGCTAGGATGGAGTGGAGG GGCTGGGAAGGCGTCCAGCGCTAGTATGGAGTGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03225.hp1 HG03041.hp1 HG03225.hp1	a0082 a0089 a0082 a0089	a0082c0112 a0089c0110 a0082c0112 a0089c0110	a0082c0112t0001 a0089c0110t0001 a0082c0112t0001 a0089c0110t0001	a0082c0112t0001g0019 a0089c0110t0001g0018 a0082c0112t0001g0019 a0089c0110t0001g0018	2	239	0.0084	633	c.148 others(652): Show c.14848+241_14848+242insTCACTCCATACTAGCGCTGGACGCCT TCCCAGCCCCTCCACTCCATCCTAGCACTGGACGCCTTCCCAGCCCCCTC CACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAG CGCTGGATGCCTTCCCAGCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCA CTCCATCCTAGCGCTGGACACCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCATCCATCCTAGTGCTGGATGCCTTCCCAGCCCCTCCAC TCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGCGC TGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCC AGCCCCCTCCACTCCATCCTAGCGCTGGACCCCTTCCCAGCCCCTCCACT CCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGCGCT GGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACCCCTTCCCA GCCCCCT	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MYO1F_chr19_8515778_8582442	8543963	G G	GTGGTGCT others(626): Show GTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGC TGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGTGGTGC TGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGG TGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGT GGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGCTG GTGCTGGTGGTGGTGCTGGTGGTGCTGGTGGTGC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0241 a0001c0008t0005g0241	1	313	0.0032	633	c.152 others(650): Show c.1524+333_1524+334insGCACCACCAGCACCACCAGCACCACCAC CAGCACCAGCACCAGCACCACCACCACCACCACCACCACCACCACCACCA CCACCACCAGCACCACCAGCACCACCACCACCACCACCAGCACCACCAGC ACCACCACCACCACCACCACCACCACCAGCACCACCACCACCACCACCAC CACCACCACCACCACCACCACCAGCACCACCAGCACCACCACCACCACCA CCACCACCACCAGCACCACCACCACCACCACCAGCACCACCAGCACCACC ACCACCACCACCACCACCACCACCACCACCACCACCAGCACCACCAGCAC CACCACCACCACCACCACCACCACCACCACCACCAGCACCACCACCACCA CCACCAGCACCACCAGCACCACCACCACCACCAGCACCACCACCACCACC ACCACCACCACCACCACCACCACCACCAGCACCACCACCACCACCACCAG CACCACCACCACCACCACCACCACCACCACCACCACCACCACCAGCACCA CCACCAGCACCACCAGCACCACCAGCACCACCACCACCACCACCAGCACC ACCAGCACCACCACCACCACCACCACCACCACCACCACCACCACCACCAG CACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(626): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGT GAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0001 a0003c0010t0001g0001	1	157	0.0064	633	c.91+ others(646): Show c.91+431_91+432insTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG G	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOL4L_chr20_32438059_32590333	32563163	G G	GGGTGGAG others(626): Show GGGTGGAGTGCAGGGAGGGTGGAGGGAGGGAGAGTGGGGAGGGAGGGTAG AAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGGCAGGGAGGGT GGAGGGAGGGAGGGTGGGGAGGGAGGATGGAGGACAGGGAGGGTGGGGAG GGAGGGTGGAGGGAGAGTGGGGAGGGCAGGGAGGATGGAGGGAGGGAGAG TGGGGAAGGTGGAGGGGAGGGAGGGAGGAAGGCAGGGGGGGAGGGAGGGA GAGTGGGGAGGGTGGAGGGGAGGGAGGGTGGAGGGAGGGAGAGTGGGGAG GGTGGAGGGCAGGGAGGAGGGAGGAGGGGAGGGAGGGAGAGTGGGGAGGG TGGAGGGCAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGAGAGTGG GGAGGGTGGAGGGCAGGGAGTGGGGAGGGAGGGACAGTGGGGAGGTTGGA GGGGAGGGAGGGTGGAGGGCAGGGAGGGTGGAGAGCAGGGAGGGTGGGGA GGGAGGGTGGAGGGAAGGAGAGTGGGGAGGGAGGGAGAGTGGAGAGGGAG GGTGGAGGGGAAGGAGGGTGGAGGGAGAGTGGGGAAGGTGGAGGGGAGGG AGGGTGGAGGGGAGGGAGGGTGGAGGGCAGGGAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp1 HG02818.hp1 others(5): Show HG02145.hp2 HG02717.hp1 HG02818.hp1 HG02896.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0024 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0024 a0001c0001t0040 a0001c0001t0048 a0001c0002t0033 a0001c0005t0002	a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0003g0168 others(5): Show a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0003g0168 a0001c0001t0024g0191 a0001c0001t0040g0162 a0001c0001t0048g0013 a0001c0002t0033g0159 a0001c0005t0002g0166	8	180	0.0444	633	c.321 others(652): Show c.321+21406_321+21407insATCCCTGCCCTCCACCCTCCCTCCCC TCCACCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCCACCCTCCTTCC CCTCCACCCTCCCTCTCCACTCTCCCTCCCTCCCCACTCTCCTTCCCTCC ACCCTCCCTCCCCACCCTCCCTGCTCTCCACCCTCCCTGCCCTCCACCCT CCCTCCCCTCCAACCTCCCCACTGTCCCTCCCTCCCCACTCCCTGCCCTC CACCCTCCCCACTCTCCCTCCCTCCATCCTCCCTGCCCTCCACCCTCCCT GCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCTCCTCCCTCCTCCCTGC CCTCCACCCTCCCCACTCTCCCTCCCTCCACCCTCCCTCCCCTCCACCCT CCCCACTCTCCCTCCCTCCCCCCCTGCCTTCCTCCCTCCCTCCCCTCCAC CTTCCCCACTCTCCCTCCCTCCATCCTCCCTGCCCTCCCCACTCTCCCTC CACCCTCCCTCCCCACCCTCCCTGTCCTCCATCCTCCCTCCCCACCCTCC CTCCCTCCACCCTCCCTGCCTTCCACTCTCCCTCCCTCCCCTCCACCCTC CTTACCTTCTACCCTCCCTCCCCACTCTCCCTCCCTCCACCCTCCCTGCA CTCCACC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(626): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATA GTTTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATA TAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATA GTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGT TTTAAACTATATAGTTTAAACTACATAGTTTTAAACTATATAAACTATAT AGTTTTAAACTAGTTTATATATAGTTTTAAACTAGTTTAAACTATATAGT TTATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTT ATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATA GTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTT AAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTCATGTAG TTTTAAACTATATAGTTTAAAACTATATAGTTTATGTAGTTTTAAACTAG TTTATATTTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	1	38	0.0263	633	c.342 others(652): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAG TTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAA AACTACATAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAA CTACATAAACTATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGT TTAAAACTATATAGTTTATATAGTTTAAAACTATGTAGTTTAAACTATAT AGTTTAAAACTATATAAACTATATAGTTTTAAACTATATAAACTATATAG TTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTATATAGTT TTAAACTATATATAAACTATATAGTTTAAAACTATATATAAACTATATAG TTTAAAACTATATATAAACTATATAGTTTAAAACTATATATAAACTATAT AGTTTAAAACTATATATAAACTATATAGTTTAAAACTATAAACTATATAG TTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(626): Show AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG AGGTGAGGGGCTCCTCTGCCCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGAGGCGGGGGGGGGGGGG GGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCC CCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCC CAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCGCCCAGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGGAGGGGGGGGT CAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	59	0.0169	633	c.155 others(652): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGGCTGACCCCCCCCTCCCCCCCTCCCGGACGAGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTC CCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCC TGGACGGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGAC CCCCCCCCCCCCCCCCCCCCCGCCTCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGGGCAGAGGAGCC CCTCACCTCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCC ACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(626): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTC GCCCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCG CCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGG TCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	59	0.0169	633	c.155 others(652): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCC ACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(626): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCC CGTCCAGGAGGGAGGTGGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCC AGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCGCCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGT CAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	59	0.0169	633	c.155 others(652): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGGCG GGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCT CCCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCCACCTCCCT CCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGA CCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCC ACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
P2RX3_chr11_57333352_57377396	57376525	A A	ACCCCCCA others(626): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCT AACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCTCCC ACCCCCACCCCTACTCCTAACCCCTCACCTGCACCACACCCATCCCTACT CCCATCCCCCCACCCCTACTCTCAACCCCTCACCTGCACCACACCCACCC CTACTCCCAACCCCCCACCTCCCACCCCCACCCCTACTCCCATCCCCCCA CCTCCCCTTTCCCACCCCTACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG02965.hp2 others(5): Show HG02145.hp1 HG02486.hp2 HG02965.hp2 HG03098.hp2 HG03225.hp2 HG03579.hp1 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 others(1): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0012t0003	a0001c0001t0004g0105 a0001c0001t0009g0026 a0001c0001t0009g0122 others(4): Show a0001c0001t0004g0105 a0001c0001t0009g0026 a0001c0001t0009g0122 a0001c0001t0009g0183 a0001c0001t0011g0106 a0001c0001t0011g0107 a0001c0012t0003g0060	8	291	0.0275	633	c.65 others(644): Show c.6528_*6529insCCCCCCACCTCCCACCCACACCCCTACTCCCATC CCCCCACCTCCCCACTCCCACCCCTACTCCCATCCCCACCACCATCTCCC CCACCCCTACTCCCAACCCCTCACCTCCACCACACCCATCTCTACTCCCA TCCCCCCACCTCCCACTCCCACCCCTACTCCCAACCCCTCACCTCCACCA ACCCTACCCCTACTCCCATCCCCCCACCTCCCACCCCACCCCTACTCCCA TTCCCCCACCTCCCACTCCCACCCCTACTCCCAGTCCCCCACCTCCCACC CTCATCCCTACTCCCATCCCCCCACTTCCCACCCCACCCCTACTCCCAAC CCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCTCCCACC CCCACCCCTACTCCTAACCCCTCACCTGCACCACACCCATCCCTACTCCC ATCCCCCCACCTCCCACCCCCACCCCTACTCCTAACCCCTCACCTGCACC ACACCCATCCCTACTCCCATCCCCCCACCCCTACTCTCAACCCCTCACCT GCACCACACCCACCCCTACTCCCAACCCCCCACCTCCCACCCCCACCCCT ACTCCCATCCCCCCACCTCCCCTTTCCCACCCCTACTCCCATCCCCACC	P2RX3	ENSG00000109991.10	transcript	ENST00000263314.3	protein_coding		4130		chr11	TogoVar
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCACC others(626): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCATCACCATCACCAC CACCACCATCACCACCAGCACCACCAGCACCACCACCATCAACATCATCA TCATCACCACCATCACCACCATCATCACCACCACCGTCATCACCACCAGC ACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCATCACC ATCACCATCACCACCATCTCACCATCACCATCACCACCATCATCACCACC ACCATCTCACCATCACCATCACCACCATCATCACCACCACCATCACCACC ACCATCACCATCACCATCACCACCATCATCATCACCACCACCACCACCAC CACCACCACCATCATCACCATCACCACCAGCACCACCACCAACATCATCA TCATCACCACCACCACCACCATCACCACCACCACCACCATCAACACCACC ATCATCATCACCACCACCACCATCACCACCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0220 a0003c0003t0002g0220	1	140	0.0071	633	c.48 others(644): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGA TGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGATGATGGTGGTGATGGTGATGGTGATGGT GGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGT GGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGAT GGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGGTGGTGATGGTGGT GCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGA TGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGTGGTG GTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGAT GGTGAGATGGTGGTGATGGTGGTGATGGTGATGATGATGGTGGTGGTGAT GGTGAGATGGTGGTGATGGTGGTGGTGGTGGTTATGGTGGTGGTGGTGGT GATGATGGTGATGATGATGGTGTTGATGATGGTGATGATGATGGTGGTG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATATATA others(626): Show TATATATAATTATATGTAATTATATATAATTATATAATTATTATATAATT GTATATAATATATAATTATATAATTATATATTATTTATTATATAATATAT AATTATATAATTATATATTATTTATTATATAATATATAATTATATAATTA TATATTATTTATTATATAATTATATATTATTTATTATATATATTATTTAT TATATAATTATATAATTATATATTATTTATTATATAATTATATATTATTT ATTATATAATATATAATTATATATTATTTATTATATAATATATAATTATA TATTATTTATTATATAATTATATATTATGTATTATATAATATATAATTAT ATATTATGTATTATATAATTATATAATTATATATTATTTATTATATAATT ATATAATTATATATTATTTATTACATATTATATATTATTTATTACATAAG TATATATTATTTATTACATAAGTATATATCACTTATTATATAATTGTATA TAATTATTTATTATATAATTGCATATAATTATTTATTATATAATTGTATA TAGTTATTTATTATATAATTCTATATAGTTATTTATTATATAATTCTATA TAATTATTTATTATCTAATTCTATATTATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0015 a0001c0022t0015	a0001c0022t0015g0103 a0001c0022t0015g0103	1	25	0.0400	633	c.862 others(650): Show c.862+3417_862+3418insATATAATTATATGTAATTATATATAATT ATATAATTATTATATAATTGTATATAATATATAATTATATAATTATATAT TATTTATTATATAATATATAATTATATAATTATATATTATTTATTATATA ATATATAATTATATAATTATATATTATTTATTATATAATTATATATTATT TATTATATATATTATTTATTATATAATTATATAATTATATATTATTTATT ATATAATTATATATTATTTATTATATAATATATAATTATATATTATTTAT TATATAATATATAATTATATATTATTTATTATATAATTATATATTATGTA TTATATAATATATAATTATATATTATGTATTATATAATTATATAATTATA TATTATTTATTATATAATTATATAATTATATATTATTTATTACATATTAT ATATTATTTATTACATAAGTATATATTATTTATTACATAAGTATATATCA CTTATTATATAATTGTATATAATTATTTATTATATAATTGCATATAATTA TTTATTATATAATTGTATATAGTTATTTATTATATAATTCTATATAGTTA TTTATTATATAATTCTATATAATTATTTATTATCTAATTCTATATTATAT ATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP2R2D_chr10_131896008_131964834	131952167	C C	CGGGTGTG others(626): Show CGGGTGTGCAGGGGGTTTCACTGTCTTAGCAGTGACTTGCGGGTGTGCGG GGGGGTTCACTGTCTTAGCAGTGACTTGGGGGGTCCCTGTCTTAGCAGTG ACTTGCGGGTGTGCGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGG GGGGTTCACTGTCTTAGTGATTTGCATGTGTGGGGGGGGTTCACTGTCTT AGTGACTTGCGGGTGTGCGGGGGTTCACTGTCTTAGTGACTTGCGGGTGT GCGGGGGTTCACTGTCTTAGCAGTGACTTGTGGGTGTGCAGGGGGTTTCA CTGTCTTAGCAGTGACTTGCGGGTGTGCGGGGGGGTTCACTGTCTTAGCA GTGACTTGGGGGGTCCCTGTCTTAGCAGTGACTTGCGGGTGTGCGGGGGT TCACTGTCTTAGTGACTTGCGGGTGTGCGGGGGGTTCACTGTCTTAGTGA TTTGCATGTGTGGGGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGG GGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGGGGGTTCACTGTCTTAG CAGTGACTTGTGGGTGTGCAGGGGGGTTCACTGTCTTAGTGACTTGCGGG TGTGCGGGGGTTCACTGTCTTAGCAGTGACTTGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG06807.hp2 HG01891.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0048 a0001c0001t0012 a0001c0001t0048	a0001c0001t0012g0170 a0001c0001t0048g0131 a0001c0001t0012g0170 a0001c0001t0048g0131	2	369	0.0054	633	c.108 others(652): Show c.1083-3229_1083-3228insAGGGGGTTTCACTGTCTTAGCAGTGA CTTGCGGGTGTGCGGGGGGGTTCACTGTCTTAGCAGTGACTTGGGGGGTC CCTGTCTTAGCAGTGACTTGCGGGTGTGCGGGGGTTCACTGTCTTAGTGA CTTGCGGGTGTGCGGGGGGTTCACTGTCTTAGTGATTTGCATGTGTGGGG GGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGGGGGTTCACTGTCTTA GTGACTTGCGGGTGTGCGGGGGTTCACTGTCTTAGCAGTGACTTGTGGGT GTGCAGGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGGGGGTTCAC TGTCTTAGCAGTGACTTGTGGGTGTGCAGGGGGTTTCACTGTCTTAGCAG TGACTTGCGGGTGTGCGGGGGGGTTCACTGTCTTAGCAGTGACTTGGGGG GTCCCTGTCTTAGCAGTGACTTGCGGGTGTGCGGGGGTTCACTGTCTTAG TGACTTGCGGGTGTGCGGGGGGTTCACTGTCTTAGTGATTTGCATGTGTG GGGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCGGGGGTTCACTGTC TTAGTGACTTGCGGGTGTGCGGGGGTTCACTGTCTTAGCAGTGACTTGTG GGTGTGC	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRG3_chr11_57371769_57386150	57376525	A A	ACCCCCCA others(626): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCT AACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCTCCC ACCCCCACCCCTACTCCTAACCCCTCACCTGCACCACACCCATCCCTACT CCCATCCCCCCACCCCTACTCTCAACCCCTCACCTGCACCACACCCACCC CTACTCCCAACCCCCCACCTCCCACCCCCACCCCTACTCCCATCCCCCCA CCTCCCCTTTCCCACCCCTACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02486.hp2 HG02965.hp1 others(5): Show HG02145.hp2 HG02486.hp2 HG02965.hp1 HG03098.hp1 HG03225.hp1 HG03579.hp1 HG06807.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0012 a0002c0002t0001g0023 a0002c0002t0001g0008 a0002c0002t0001g0012 a0002c0002t0001g0023	8	316	0.0253	633	c.32 others(642): Show c.324_*325insGGTGGGGATGGGAGTAGGGGTGGGAAAGGGGAGGTG GGGGGATGGGAGTAGGGGTGGGGGTGGGAGGTGGGGGGTTGGGAGTAGGG GTGGGTGTGGTGCAGGTGAGGGGTTGAGAGTAGGGGTGGGGGGATGGGAG TAGGGATGGGTGTGGTGCAGGTGAGGGGTTAGGAGTAGGGGTGGGGGTGG GAGGTGGGGGGATGGGAGTAGGGATGGGTGTGGTGCAGGTGAGGGGTTAG GAGTAGGGGTGGGGGTGGGAGGTGGGGGGATGGGAGTAGGGATGGGTGTG GTGCAGGTGAGGGGTTGGGAGTAGGGGTGGGGTGGGAAGTGGGGGGATGG GAGTAGGGATGAGGGTGGGAGGTGGGGGACTGGGAGTAGGGGTGGGAGTG GGAGGTGGGGGAATGGGAGTAGGGGTGGGGTGGGAGGTGGGGGGATGGGA GTAGGGGTAGGGTTGGTGGAGGTGAGGGGTTGGGAGTAGGGGTGGGAGTG GGAGGTGGGGGGATGGGAGTAGAGATGGGTGTGGTGGAGGTGAGGGGTTG GGAGTAGGGGTGGGGGAGATGGTGGTGGGGATGGGAGTAGGGGTGGGAGT GGGGAGGTGGGGGGATGGGAGTAGGGGTGTGGGTGGGAGGTGGGGGG	PRG3	ENSG00000156575.2	transcript	ENST00000287143.2	protein_coding		243		chr11	TogoVar
PRR22_chr19_5777960_5789746	5787204	G G	GGTGGGAG others(626): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTCGTGGGAGATGGTGGGAGGT AGTGGGAGACAGTGGCAGACAGTGGGAGGTGGTGGGAGATGGTGGCAGAC GGTGGGAGGTGGTGGGAGACAGTGGGAAGTGGTGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTAGGAGACGGTGGGAGGTGGTGGGAGACACTCGGAGAC GGTGGGATGTGGTGGGAGGTAGTGGGAGACATTGGCAGACGGTGGGAGGT GGTGGGAGATGGTGAGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAT GGCGGGAGGTGGTGGGAGACGGTGGGAGGTGGTGGGAGGTGGTGGGAGAC GGAGAAGGTGGGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTG GGAGGTCGTGGGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGATGGTG GGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGATGGCGGGAGGTGGTG GGAAGTGGTGGGAGACGGAGATGGTGGGAGACGGTGGGAGACGGCGGGAG GTGGAGGGAGGCGGCGGGAGATGGCGGGAGGTGGCAGGAGACGCTGGGAG GGTGGCAGGAGACGGTGGGAGGTGGTGGGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	2	0.5000	633	c.-25 others(644): Show c.-2545_-2544insTGTCTCCCACCACCTCCCACCGTCTCCTGCCACC CTCCCAGCGTCTCCTGCCACCTCCCGCCATCTCCCGCCGCCTCCCTCCAC CTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCTCCCACCACTTCC CACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCTCCCACCACCTCC CACCATCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCC CACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCC GTCTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCCGCC ATCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCCCACC ACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCCCACC GTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTCCCACC GTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCCCACC GTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCCCACT ACCTCCCACCATCTCCCACGACCTCCCACCATCTCCCACGACCTCCCAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2459		chr19	TogoVar
RGS12_chr4_3288021_3444913	3341671	G G	GGAGGGTG others(626): Show GGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGG GTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAG GGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGG GGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAGAG ATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGG GACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGG TGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGAGGGT GGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGG GGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGA TGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGG GAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGG GTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTG GAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0134 a0001c0006t0001g0134	1	16	0.0625	633	c.188 others(652): Show c.1882-1263_1882-1262insGGTGGAGAGTTGGGGGTGTGGGGGGA GGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGG GGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGG TGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTG GGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAG AGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAG GGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGG GGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGG GTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGG GGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGA GTTGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAG GGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATG GTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGG TGGAGAG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(626): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAG TTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATATAT TTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTATTTAG TTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAG TTTATAAATACATATTTACATATTTAGTTTATAAATATTTACATATTTAG TTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATAT TTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTAT ATATTTAGTTTATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTT ATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAGTTTATAGATA AATATATATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03195.hp2 HG02886.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0237 a0001c0001t0002g0238	2	28	0.0714	633	c.-75 others(652): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAT TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATAAA CTAAATATATAAATATGTATTTATAAACTAAATATATAAATATGTATTTA TAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATGTA TTTATAAACTAAATATGTAAATATTTATAAACTAAATATGTAAATATGTA TTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATA TTTATAAACTAAATAAATATATATTTATAAACTAAATAAATATATATTTA TAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATATATA TTTATAAACTAAATATATAAATATATATTTATAAACTAAATATATAAATA TATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATA AATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(626): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	193	0.0052	633	c.165 others(650): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(626): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGG GGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGG AGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGG AGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGG GGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGA GGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAG GGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGG AGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAG GGGGGAAGGGGAAGGGGGAGGAGGGGGGAGGAGGGAGGGGGAGGGGAGGG GAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGG AAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGAGGGGG GAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGA GGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	135	0.0074	633	c.12 others(644): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTT CCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTC CCCTCCCCTCCCCCTCCCTCCTCCCCCCTCCTCCCCCTTCCCCTTCCCCC CTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCT CCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCC CTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCC TCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCC CCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCT CCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCT CCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCC CCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(626): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGAGGAGAGGGGAGGGG GAAGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGG GGGAGGGGGAGGGGGAGGGGGGGAGGGAGGGGGAGGGGGAGGGGAGGAGG GGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAG GAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGG GGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGA GGGAGGGGGAGGGGAGGGGAAGGAGGGAAGGGGAAGGGGGAGGAGGGAGG GGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGG GGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGAGAGGG GAGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	3	0.3333	633	c.12 others(644): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCC CCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCC CCTCCCTCCTCCCCCTTCCCCTTCCCTCCTTCCCCTCCCCTCCCCCTCCC TCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCC CCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTC CTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCC CCTCCTCCCCTCCCCCTCCCCCTCCCTCCCCCCCTCCCCCTCCCCCTCCC CCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCATCCCCCTTC CCCCTCCCCTCTCCTCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTC CTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTC CCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCC CCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMYD3_chr1_245744347_246512279	246243972	G G	GGCTGAAG others(626): Show GGCTGAAGCAGGAGGATCACCTGAGGCTAGGAGTTTGAAGCCACGGTCTG CTATGATCATACCACAGTATTCTAAAGCCCAGGCAACACAGTGAAACCCC ACTGCTTACCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG CTGGTCTCAGTGGCTCATGCCTGTAATCCTTGCATATCTTGGGATGGCAA GGAGGGAGCATCACTTGAGCCCAGGAGTTCAAAACCAGCCTGGGCAACAC ACTGAGATTCCATCTCTCATTAAAATATTAGCTGGGTGCGATGGTGCATG CCTGCAGTCCCAGCTACTCCAGAGTCTGAGGTGGCAGGATTGCTTGAGCC CAGGAAGTCAAGGCTACAGTGAGCTGTGTTATTGCCACTGCACTCCAGCC AAGGTGACCACAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAGGCCAAC CAATTTCCCAATCTAATGTGAAATATAAACTGAAGTGTAGCCTGTCATTT TTAAAAACTTCATACTCTATACATGCATACTTTTTGGTAATCAAATTTAT AACGTGTGTCTAGGCAACCACACATTCAACAGACTACCACGACAGATTTT GCCTAGCACTGTGGTTTAAGAGAAGGATAACTAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02165.hp2 HG02602.hp1 others(5): Show HG02015.hp2 HG02165.hp2 HG02602.hp1 NA18747.hp2 NA18965.hp2 NA18971.hp2 NA18984.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0011t0002 a0002c0003t0001	a0001c0001t0001g0006 a0001c0001t0001g0045 a0001c0001t0001g0047 others(5): Show a0001c0001t0001g0006 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0002g0042 a0001c0002t0001g0056 a0001c0011t0002g0018 a0002c0003t0001g0101	8	105	0.0762	633	c.531 others(652): Show c.531+83228_531+83229insATAGTTATCCTTCTCTTAAACCACAG TGCTAGGCAAAATCTGTCGTGGTAGTCTGTTGAATGTGTGGTTGCCTAGA CACACGTTATAAATTTGATTACCAAAAAGTATGCATGTATAGAGTATGAA GTTTTTAAAAATGACAGGCTACACTTCAGTTTATATTTCACATTAGATTG GGAAATTGGTTGGCCTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTG GTCACCTTGGCTGGAGTGCAGTGGCAATAACACAGCTCACTGTAGCCTTG ACTTCCTGGGCTCAAGCAATCCTGCCACCTCAGACTCTGGAGTAGCTGGG ACTGCAGGCATGCACCATCGCACCCAGCTAATATTTTAATGAGAGATGGA ATCTCAGTGTGTTGCCCAGGCTGGTTTTGAACTCCTGGGCTCAAGTGATG CTCCCTCCTTGCCATCCCAAGATATGCAAGGATTACAGGCATGAGCCACT GAGACCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGG TAAGCAGTGGGGTTTCACTGTGTTGCCTGGGCTTTAGAATACTGTGGTAT GATCATAGCAGACCGTGGCTTCAAACTCCTAGCCTCAGGTGATCCTCCTG CTTCAGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNX9_chr6_157818246_157950077	157827544	T T	TTATAGTT others(626): Show TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATAT AATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATA GTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATAT ATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATAT ATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTA TATAATATATAAATATATATTATAGTTTATATAATATATAAATATATATT ATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAA TATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAA TATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGT TTATATAATATATAAATATATATTATAGTTTATATAATATATAAATATAT ATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATAT AAATATATATTATAGTTTATATAATATATAAATA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0042 a0002c0002t0002g0042	1	241	0.0041	633	c.12+ others(648): Show c.12+4102_12+4103insGTTTATATAATATATAAATATATATTATAG TTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATATA TATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATA TAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTAT ATAATATATAAATATATATTATAGTTTATATAATATATAAATATATATTA TAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAAT ATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAAT ATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTT TATATAATATATAAATATATATTATAGTTTATATAATATATAAATATATA TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATAT AATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATA GTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATAT ATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(626): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC GTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCGACATCGT GTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAGTGCTGGGATTACAGGCA TGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGG TCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02896.hp1 HG02897.hp1 others(1): Show HG01167.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp1	a0001 a0001	a0001c0008 a0001c0011 a0001c0008 a0001c0011	a0001c0008t0001 a0001c0011t0001 a0001c0008t0001 a0001c0011t0001	a0001c0008t0001g0012 a0001c0008t0001g0022 a0001c0011t0001g0317 others(1): Show a0001c0008t0001g0012 a0001c0008t0001g0022 a0001c0011t0001g0317 a0001c0011t0001g0318	4	180	0.0222	633	c.245 others(650): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGG AGTTCGAGACCAGCGTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAG TGAGCCGACATCGTGTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAGTGC TGGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTTTT TTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGTGT GATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(626): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCA GCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGC CTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 NA18967.hp1 NA18981.hp2 HG02129.hp2 NA18967.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0002 a0001c0001t0002g0004 a0001c0001t0006g0008 a0001c0001t0001g0002 a0001c0001t0002g0004 a0001c0001t0006g0008	3	82	0.0366	633	c.64 others(644): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGC TGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGC CCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCT CCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCAC CCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(626): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTG CCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTG CCTGTGGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	80	0.0125	633	c.64 others(644): Show c.6483_*6484insCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCACCACAGG CAACTCCACCCCCGCTGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGG CCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCC CGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGG CAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGG CCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCT CCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCAC CCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(626): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCC TGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 NA18939.hp2 HG02300.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0059 a0001c0001t0001g0006 a0001c0001t0001g0059	2	81	0.0247	633	c.64 others(644): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCG CTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGG CCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCT CCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCAC CCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(626): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCAGGGGTGGAGTTGC CTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG03492.hp2 NA18965.hp1 others(1): Show HG01346.hp2 HG03492.hp2 NA18965.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0004 a0001c0001t0001 a0001c0001t0006 a0001c0002t0004	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0006g0091 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0006g0091 a0001c0002t0004g0148	4	83	0.0482	633	c.64 others(644): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCG CTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGG CCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCT CCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCAC CCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(626): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGC CTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01981.hp1 HG03041.hp2 others(1): Show HG00099.hp1 HG01981.hp1 HG03041.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	4	83	0.0482	633	c.64 others(644): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCG CTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGG CCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCT CCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCAC CCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar

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