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
CROCC2_chr2_240901336_240998311	240979774	GCCCAGGC others(713): Show GCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCA GACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTC ATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCC TGCTCCGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTC AGGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCT CTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGG GTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGG AGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCT CAGGAGCCCAGACTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGA GCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCA GGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTC ATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCC TGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTC AGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCT CTGGGGTAGGAGCCTCAGGAT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0039 a0039	a0039c0090 a0039c0090	a0039c0090t0001 a0039c0090t0001	a0039c0090t0001g0144 a0039c0090t0001g0144	1	339	0.0029	-720	c.440 others(19): Show c.4402-3084_4402-2365del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX41_chr5_177506577_177521961	177518288	AGGAGGAC others(713): Show AGGAGGACATGGTTTCTGGTCCTGCTCACAACACCCAAATACATGGCAAT CTCAGGCCGGGAGAGGAGAGGCGTCCTGGGCCAGGGCGCTGCAGGAATAC AGGTCTGGCGATGTGCAAGTACACAGATTCACTAGGCAACAGCATTGCGG CAAGGGTGGGATGGGGAAGCCAGACCTAAGGCCAGAAAAGGAGATTGCGA CCAGAGCATGCCTGCTGTGACTGTCAGAGTAAGTGGTTTCAACTTTATTA GAGACTTCTAAGGAATGACTTGGTCAGCTCTGTGCTTTCTTGCCTTCAAG AGTGTGTGCTGGGCGCTGGCACTGCGCTCAAGCAGATGATAATCAAGACA CATACCTGGTGTGCGAGGAGCTTATGTAGATTGAGACTAGAAATATAGAC AGATAACTGGTCTTAAAGAGAAAGATCCTAAGACAAGGTACCGCTTTTCG AAGTGTCATAGTTTTCACAGTACAATGGCCTCTTAGCTGGGATGTGAAGG ATACACAGGAATTCATGAAGTCTTCTTTAGTAAAGAAAGCTTAGGCTGGG CACAGTGGCTCATTCCTGTAATCCCAGCTCTCTGGGAGGCCAAGGCAGGA GGATCGCTTGAAGCCAGGAGTTCAAGACCAGCTTGGACAACATAGCAAGA CCCCATCTCTATAAAAAAAATAAGCTGGTGCTTACTGCCAGTCCCATGGT GGGTCTCAACCTGGGAGGGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02572.hp2 HG02886.hp2 others(2): Show HG01934.hp2 HG02572.hp2 HG02886.hp2 HG02896.hp2 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0008	5	410	0.0122	-720	c.-20 others(11): Show c.-2063_-1344del		DDX41	ENSG00000183258.12	transcript	ENST00000330503.12	protein_coding					1328		chr5	TogoVar
EIF3H_chr8_116637130_116760823	116678864	GGGGGGGT others(713): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGTCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGTCCCTCTGCCCGGCCAGCCTCCCCGTCCGGGAGGG GGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCATCCGGGAGGAAGGTGGGGGGGTCAGCCCCCCGCC CGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCATCCGGGAGGAAGGT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01192.hp1 HG02738.hp2 others(1): Show HG01175.hp2 HG01192.hp1 HG02738.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0132 a0001c0001t0001g0141 others(1): Show a0001c0001t0001g0108 a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0148	4	334	0.0120	-720	c.290 others(19): Show c.290-20604_290-19885del		EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7						chr8	TogoVar
EXOC2_chr6_480154_698139	601195	TCCCCTTG others(713): Show TCCCCTTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTA CGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACA CACATTCTCACACCAAGAACACCCCGTCTGCGAATCCACACACATTCTCA CACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAAC ACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTG CGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACA CACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCA CACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAAC ACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTG CGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACA CACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCA CACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAAC ACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTG CGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACA CACATTCTCACACCAAGAACA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG01167.hp1 others(27): Show HG00323.hp2 HG00438.hp2 HG01167.hp1 HG01891.hp1 HG02015.hp1 HG02132.hp1 HG02602.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03516.hp1 HG03704.hp2 HG04199.hp1 NA18906.hp1 NA18946.hp1 NA18970.hp1 NA18971.hp2 NA18981.hp2 NA18983.hp1 NA18998.hp1 NA19004.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19074.hp1 NA19077.hp2 NA19086.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0021 others(1): Show a0001c0003 a0001c0004 a0001c0021 a0001c0022	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(9): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0006 a0001c0003t0017 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0021t0003 a0001c0022t0007	a0001c0003t0001g0062 a0001c0003t0001g0206 a0001c0003t0001g0207 others(27): Show a0001c0003t0001g0062 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0222 a0001c0003t0002g0020 a0001c0003t0002g0063 a0001c0003t0002g0159 a0001c0003t0002g0178 a0001c0003t0002g0226 a0001c0003t0003g0170 a0001c0003t0003g0173 a0001c0003t0003g0182 a0001c0003t0003g0205 a0001c0003t0003g0208 a0001c0003t0005g0176 a0001c0003t0005g0230 a0001c0003t0006g0209 a0001c0003t0017g0193 a0001c0004t0001g0003 a0001c0004t0001g0213 a0001c0004t0003g0079 a0001c0004t0004g0006 a0001c0004t0004g0210 a0001c0004t0004g0211 a0001c0004t0005g0219 a0001c0004t0005g0220 a0001c0004t0005g0224 a0001c0004t0005g0225 a0001c0021t0003g0180 a0001c0022t0007g0163	30	254	0.1181	-720	c.743 others(17): Show c.743-2690_743-1971del		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27						chr6	TogoVar
FAM193B_chr5_177514789_177559563	177518288	AGGAGGAC others(713): Show AGGAGGACATGGTTTCTGGTCCTGCTCACAACACCCAAATACATGGCAAT CTCAGGCCGGGAGAGGAGAGGCGTCCTGGGCCAGGGCGCTGCAGGAATAC AGGTCTGGCGATGTGCAAGTACACAGATTCACTAGGCAACAGCATTGCGG CAAGGGTGGGATGGGGAAGCCAGACCTAAGGCCAGAAAAGGAGATTGCGA CCAGAGCATGCCTGCTGTGACTGTCAGAGTAAGTGGTTTCAACTTTATTA GAGACTTCTAAGGAATGACTTGGTCAGCTCTGTGCTTTCTTGCCTTCAAG AGTGTGTGCTGGGCGCTGGCACTGCGCTCAAGCAGATGATAATCAAGACA CATACCTGGTGTGCGAGGAGCTTATGTAGATTGAGACTAGAAATATAGAC AGATAACTGGTCTTAAAGAGAAAGATCCTAAGACAAGGTACCGCTTTTCG AAGTGTCATAGTTTTCACAGTACAATGGCCTCTTAGCTGGGATGTGAAGG ATACACAGGAATTCATGAAGTCTTCTTTAGTAAAGAAAGCTTAGGCTGGG CACAGTGGCTCATTCCTGTAATCCCAGCTCTCTGGGAGGCCAAGGCAGGA GGATCGCTTGAAGCCAGGAGTTCAAGACCAGCTTGGACAACATAGCAAGA CCCCATCTCTATAAAAAAAATAAGCTGGTGCTTACTGCCAGTCCCATGGT GGGTCTCAACCTGGGAGGGAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG02572.hp1 HG02886.hp2 others(3): Show HG01934.hp2 HG02572.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03486.hp2	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0001 a0004c0004 a0010c0008 a0001c0001 a0004c0004 a0010c0008	a0001c0001t0009 a0004c0004t0015 a0004c0004t0020 others(1): Show a0001c0001t0009 a0004c0004t0015 a0004c0004t0020 a0010c0008t0009	a0001c0001t0009g0158 a0001c0001t0009g0159 a0004c0004t0015g0219 others(3): Show a0001c0001t0009g0158 a0001c0001t0009g0159 a0004c0004t0015g0219 a0004c0004t0020g0240 a0004c0004t0020g0241 a0010c0008t0009g0157	6	368	0.0163	-720	c.11 others(11): Show c.1175_*1894del		FAM193B	ENSG00000146067.17	transcript	ENST00000514747.6	protein_coding					1500		chr5	TogoVar
FOXN3_chr14_89151177_89422233	89361927	TCCAGCAC others(713): Show TCCAGCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCAC CTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTA CCACCTCCAGCACCACCACCTCCACCACCACCTCCACCACTACCACCTCC AGCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTC CACCACTACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCA CCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCACCTCCAGC ACCACCTCCACCACCACCACCTCCAGCACCACCACCACCTCCTCCTCCTC CACCACCACCACCTCCACCACCACCACCACCACCTCCAGCACCACCTCTA CCACCACCACCTCCAGCACCACCACCACCTCCTCCTCCTCCTCCACCACC ACCTCCACCACCACCACCTCCAGCACCACCACCACCTCCTCCTCCTCCAC CACCACCACCACCACCTCCAGCACCAGCTCCACCACCTCCTCCTCCACCA CCACCACCACCACCACCACCATCTCCACCACCACCACCACCATCTCTACG ACCACCACCACCACCATCTCCACCACCACCTCCACCACCACCACCACCAC CATCTCTACGACCACCACCACCACCACCATCTCTACGACCACCACCACCT CCACCACCATCTCCACCACCA	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	212	0.0047	-720	c.544 others(19): Show c.544-11839_544-11120del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
GALNT9_chr12_132191372_132334589	132233357	CCCCTAGT others(713): Show CCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCC TAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTA GTGCCACACACTCGATGGGGTGACAGAGGAGACAGTGTGGAGCCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTGGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGTGCCACACACTCG ATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGAT GGGGCGACAGAGGAGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGG GGCGACAGAGGAGACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGG CGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTG AGAGAGGAGACAGCGTGGAGT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0002 a0002c0032t0002	a0002c0032t0002g0167 a0002c0032t0002g0167	1	147	0.0068	-720	c.107 others(21): Show c.1077+13833_1077+14552del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233735	GTGGAGCC others(713): Show GTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGT GGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGG AGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAG TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGCC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCC TGGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTA GTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCG ATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGAT GGGGCGACAGAGGAGACAGCA	G G	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0018 a0001c0005t0001g0018	1	182	0.0055	-720	c.107 others(21): Show c.1077+13455_1077+14174del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234167	GTGGAGTC others(713): Show GTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGT GGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGG AGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAG TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTA GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGCCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTGGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACA CTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCG ATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGAT GGGGCGACAGAGGAGACAGCA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	182	0.0055	-720	c.107 others(21): Show c.1077+13023_1077+13742del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234322	AGTGCCAC others(713): Show AGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAG TGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTG CCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGTGCC ACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCAC ACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGCCCCTAGTGCCACAC ACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTGGTGCCACACAC TCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTC GATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGA TGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATG GGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGG GCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGC GACAGAGGAGACAGCATGGAGTCCCTAGTGCCACACACTCGATGGGGCGA CAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACA GAGGAGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGCGTGGAGTCCCTG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03209.hp1 NA19085.hp2 HG02280.hp2 HG03209.hp1 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0001 a0001c0009t0002 a0001c0002t0001 a0001c0009t0002	a0001c0002t0001g0069 a0001c0002t0001g0151 a0001c0009t0002g0174 a0001c0002t0001g0069 a0001c0002t0001g0151 a0001c0009t0002g0174	3	182	0.0165	-720	c.107 others(21): Show c.1077+12868_1077+13587del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234394	CAGAGGAG others(713): Show CAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACA GAGGAGACAGCATGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGG AGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAG CGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTG GAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGA GTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGT CCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCC CTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGCCCCT AGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTGG TGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTG CCACACACTCGATGGCGTGAG	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0007 a0001c0040t0007	a0001c0040t0007g0002 a0001c0040t0007g0002	1	182	0.0055	-720	c.107 others(21): Show c.1077+12796_1077+13515del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GUCY2C_chr12_14607632_14701599	14700656	AAGAATAA others(713): Show AAGAATAAGAAAATGAACACTCATATATCCAAGTTAGAACCTAGGACCTT CGCACTCCTATGTCCTCTATCCCCGAAACATCATCCTTTTCTGCTCCCAA TGTAGCCAAGAGGTGTAGGGAAGAGTTAATCAAGAGATAAAGAATATTGA GGCATTTGTTGACCATAGCATGGGTATTTCAGAAGGCACTGTTAAATGTT TGAGATAAAGAATGGGAAGGAAGAAAGATCAGGGGGAGAGAAAACAGTAT GAGGGTGAAAGAATACTGGAGGAGACACGATGCCAAGGGCTGTTGTTTTG GAGATGGTTGATGTGGAACAGGATGGGTTCAATCCCGGGTCTCCCAGAGA GAGGACGGGACCTTCACAGGATTCAGCTTTGATACAGAAGAAAAGTGCTG TGATTATTTTATGGGGCAGGATAGGTTGTTGTGGGTGATTGACAGGACTG GGTGCTGCATGGGGATTTGTAATGGATGTCAGTACCAGGCTGAAGACAGG CACATGGCCATCACAAGGATGCTCAGCCTTTGCTACAGGTAACGATTTTC TGTGTGGCACATTGGTGGCCAAGTTTGAACTCAAACACGGTTTTCTAACT ATTAATTTGTTGCTCTTTCCACTTCCTGGGGCAGGAGAAGGAATAGAATA CACTGTTTTTATTTTTAAAAAATGTGGTCCAGAAATTACAAGTATAAAAG AAAGCCATGTGGAGGGAGTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0181 a0001c0003t0001g0181	1	234	0.0043	-720	c.-49 others(11): Show c.-4928_-4209del		GUCY2C	ENSG00000070019.5	transcript	ENST00000261170.5	protein_coding					4058		chr12	TogoVar
MUC4_chr3_195741771_195816929	195777119	CCCATACC others(713): Show CCCATACCTTCCACACCCATACCTTCCACATCCATACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTT CCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACA CCCATACCTTCCACATCCATACCTTCCACACCCATACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACACCCTTACCTTCCACACCCATACCTT CCACACCCATACCTTCCACACCCATACCTTCCACACCCTTACCTTCCACA CCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCAT ACCTTCCACACCCTTACCTTCCACACCCATACCTTCCACAGTCATACCTT CCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACA CCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTT CCACACCCATACCTTCCACATCCATACCTTCCACACCCATACCTTCCACA CCCATACCTTCCACACCCATACCTTCCACACCCTTACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTT CCACACCCATACCTTCCACAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0028 a0028	a0028c0034 a0028c0034	a0028c0034t0002 a0028c0034t0002	a0028c0034t0002g0193 a0028c0034t0002g0193	1	146	0.0068	-720	c.129 others(20): Show c.12943+464_12943+1183del		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195780352	GTGACGTG others(713): Show GTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGT GACGTGACCTGTAGATACTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGG TGTGACCTGAGGATGATGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCC TGACCTGTGGATGCTGAGGAAGTGTCCGTGACAGGAAGACGGGTGGTGTC ACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGAC CTGTGGATACTGAGGAAGCGTCGGTGACAAGAAGAGGGGTGGTGTCACCT GTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGT GGATGCTGAGGAAGTGTCCGTGACAGGAAGACGGGTGGTGTCACCTGTGG ATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGAT ACTGAGGAAGCGTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATAC TGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCCG AGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAG GAAAGGCTGGTGACAGGAAGAGGCGTGGCGTGACCGGTGGATACTGAGGA AGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAG CGCCGGTGACAGGAAGAGTGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02451.hp2 HG02451.hp2	a0065 a0065	a0065c0142 a0065c0142	a0065c0142t0004 a0065c0142t0004	a0065c0142t0004g0223 a0065c0142t0004g0223	1	247	0.0040	-720	c.105 others(11): Show c.10508_11227del	p.Ser others(15): Show p.Ser3503_Val3742del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	11339/16756	10508/16239	3503/5412			chr3	TogoVar
OTUD7A_chr15_31470398_31875673	31510788	TATGTATA others(713): Show TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATATG TATATCTATATGTAACATATATGTATATCTATATGTAACATATATGTATA TCTATATGTAACATATATGTATATCTATATGTAACATATGTATATCTATA TGTAACATATGTATATCTATATGTAACATACATGTATATCTATATGTAAC ATACATGTATATCTATATGTAACATACATATATATGTATATCTATATGTA ACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTA ACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTA ACACACATATGTATATCTATATGTAACACACATACATATGTATATCTATA TGTAACACACATACATATGTATATCTATATGTAACACACATACATATGTA TATCTATATGTAACACACATATATATGTATATCTATATGTAACACACATA TATATGTATATCTATATGTAACACACATATATATGTATATCTATATGTAA CACATATATATGTATATCTATATGTAACACACACATATATGTATATCTAT ATGTAACACACACATATATGTATATCTATATGTAACACACACATATATGT ATATCTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0046 a0001c0006t0046	a0001c0006t0046g0242 a0001c0006t0046g0242	1	243	0.0041	-720	c.894 others(17): Show c.894-7690_894-6971del		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31510791	GTATATCT others(713): Show GTATATCTATATGTAACATACATATGTATATCTATATGTAACATACATAT GTATATCTATATGTAACATATATGTATATCTATATGTAACATATATGTAT ATCTATATGTAACATATATGTATATCTATATGTAACATATATGTATATCT ATATGTAACATATATGTATATCTATATGTAACATATGTATATCTATATGT AACATATGTATATCTATATGTAACATACATGTATATCTATATGTAACATA CATGTATATCTATATGTAACATACATATATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA CACATATGTATATCTATATGTAACACACATACATATGTATATCTATATGT AACACACATACATATGTATATCTATATGTAACACACATACATATGTATAT CTATATGTAACACACATATATATGTATATCTATATGTAACACACATATAT ATGTATATCTATATGTAACACACATATATATGTATATCTATATGTAACAC ATATATATGTATATCTATATGTAACACACACATATATGTATATCTATATG TAACACACACATATATGTATATCTATATGTAACACACACATATATGTATA TCTATATGTAACACACACATA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0035 a0001c0006t0035	a0001c0006t0035g0001 a0001c0006t0035g0001	1	244	0.0041	-720	c.894 others(17): Show c.894-7693_894-6974del		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
P2RX5_chr17_3668227_3701155	3686870	GCACAGCG others(713): Show GCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCA GCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACG TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCC CCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACA CAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCC TCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCC CCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCC TCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAG CGGGACCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCA GAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCC TCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCC CAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTG GGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAA CAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCC CAGCCTGAGAACAGGAGAACA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0177 a0002c0002t0001g0177	1	331	0.0030	-720	c.981 others(16): Show c.981+422_981+1141del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
PDCD6_chr5_266646_319974	293229	TGATCAAG others(713): Show TGATCAAGAAGACGGGAACAGCACAGGGCACTGGGAGCTGCAAACACCCA CGATACTGTCAGAGATGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAA GACGGGAACAGCACGAGGCACTGGGAGCTGCAAACGCCTGCGATAATGTC AGAGATGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAGACGGGAACA GCACGAGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGATGGAG AAAGGTATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCACGAGGCA CTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGACGGAGAAAGGTATGA CAGGAAGAGCAGATCAAGAAGACGGGAACAGCACGAGGCACTGGGAGCTG CAAACGCCCGCGATACTGTCAGAGACGGAGAAAGGTATGACAGGAAGAGC AGATCAAGAAGACGGGAACAGCACGAGGCACTGGGAGCTGCAAACGCCCG CGATACTGTCAGAGACGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAA GACGGGAACAGCACGAGGCACTGGGAGCTGCAAACGCCCGCGATACTGTC AGAGACGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAGACGGGAACA GCACGAGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGACGGAG AAAGGTATGACAGGAAGAGCA	T T	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	358	0.0028	-720	c.164 others(19): Show c.164-10924_164-10205del		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
SERPINF2_chr17_1737871_1760265	1740507	CGGACAGT others(713): Show CGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTCAGGGTGGGAGG CGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGG AGTGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGA GGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGC AGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTG GGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACACTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCC TGATGCAGGGAGTGAGGCGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 NA19078.hp1 HG01106.hp2 NA19078.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0019 a0003c0003t0001 a0003c0003t0019	a0003c0003t0001g0004 a0003c0003t0019g0109 a0003c0003t0001g0004 a0003c0003t0019g0109	2	330	0.0061	-720	c.-24 others(11): Show c.-2405_-1686del		SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding					2363		chr17	TogoVar
SLC12A7_chr5_1045384_1117063	1070632	GGGCATCA others(713): Show GGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACA CTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGC CCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTG AGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAG TGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACG GGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGTATCAC ACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC AGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGT GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAG CACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGC ATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTA TGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCC CAGTGAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCC CCCAGTGAGCCCCCAGCACAC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0002 a0002c0034t0002	a0002c0034t0002g0091 a0002c0034t0002g0091	1	115	0.0087	-720	c.224 others(19): Show c.2241+2281_2241+3000del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar
SMYD3_chr1_245744347_246512279	245974917	CAGGGAAA others(713): Show CAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCTGGCCTAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCTGGCCTAGGGAAAGCCATCGTCTCTAG CCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0052 a0001c0002t0002g0052	1	115	0.0087	-720	c.532 others(19): Show c.532-45700_532-44981del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976329	AGCCCAGG others(713): Show AGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAG CCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCC TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCA TCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATC GTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGT CTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCT AGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	113	0.0088	-720	c.532 others(19): Show c.532-47112_532-46393del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
TMEM241_chr18_23291013_23442961	23344074	TTTTCACC others(713): Show TTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATC CACCTGCCTCTGCCTCCCAAGGTGTTGGGATTACAGGTGTGAGCCACCAT GCTCGGCCAATCTCATTCTTTTTTATGGCTGCATAGTATCCCATGGTGCA TATGTGCTACATTTTCTTTATCCAGTCTACCATTGATGGGCATTTAGGTT GATTCCATGTCTTTGCTATTGTGACTAGTGTTGTGATGAACACACATGTG CATGTGTCTTTATGGTAGTACAATTTACATTCCTTTGGCTATATGCCCAA TAATGGGATTGCTGGTTTGAATGGTAATTCTGTTTTAAGTTCTTTCAGCA ATCAACAAACTGCTTTCCTTTAGACCATTTTTAAATTGGGTTGTAGGTCA TCTCATTGAGGTGTAAGAATTCTTTATATATTCTGGATATAGTTCCTTTA TCAGACATTATGATTTGCAGATATTTTCTCCTAGGCTGTGGCTTACCTTT TAATTTTCTTTTTCTTTTTTTTTCTTCTTTTTTTTTTTTTTGTTTTGAGA CAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTTTCCTGCCTCAGGCT CCCGAATAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTT GTATTTTTAATAGAGACCAGG	T T	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0037	1	338	0.0030	-720	c.765 others(17): Show c.765+7402_765+8121del		TMEM241	ENSG00000134490.14	transcript	ENST00000383233.8	protein_coding	13/14						chr18	TogoVar
VAV2_chr9_133756894_133997324	133827203	ATGGGCAT others(713): Show ATGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGG GGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGG GCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGC ATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCAT CGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCA CCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCC AGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAG CTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCT ACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTAC CGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCG CTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCT GCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGC GCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGC CCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCC ACTGGGGCTGACCACTGAGCG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0010 a0001c0019t0010	a0001c0019t0010g0090 a0001c0019t0010g0090	1	187	0.0053	-720	c.449 others(17): Show c.449+6349_449+7068del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
ADARB2_chr10_1172313_1742525	1699657	TCAATACA others(712): Show TCAATACACTCAATCCCACTCCACCGGGAGACCAGGCGCTAGTCAATACA CGCAAACCCACTTCCACCAGGGAGACCGGGGCACTCGCCAATACACACAA TCCCACTCCACCGGGGAGACCAGGCGCTCGTCAATACACTCAATCCCACT CCACCGGGGAGACCAGGCACTCACCAATACACGCAATCCCACTCCACCGG GAGACCAGGCGCTAGTCAATACACGCAATCCCACTCCACCGGGAGACCAG ACGCTAGTCAATACACGCAATCCCACTCCACCAGGAGACCGGGCACTCGC CAATACACGCAATCCCACTCCACCGGGAGACCAGGCGCTAGTCAATACAC GCAATCCCACTCCACCAGGAGACCGGGCACTCGCCAACACACACAATCCC ACTCCACCGGGAGACCAGGCGCTCGTCAATACACTCAATCCCACTCCACC GGGAGACCAGGCGCTCGCCAATACACTCAATCCCACTCCACCGGGAGACC AGGCACTCGCCAACACACACAATCCCACTCCACCAGGAGACCAGGCGCTC GCCAATACACGCAATCCCACTCCACCAGGAGACCAGGCGCTCGCCAATAC ACTCAATCCCACTCCACCGGGAGACCAGGCGCTAGTCAATACACGCAATC CCACTCTACCAGGAGACCGGGCACTCGCCAACACACACAATCCCACTCCA CCGGGAGACCAGGCGCTCGC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02027.hp2 NA18967.hp2 others(2): Show HG00408.hp2 HG02027.hp2 NA18967.hp2 NA18983.hp1 NA18989.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0006 a0001c0001 a0002c0002 a0003c0006	a0001c0001t0055 a0002c0002t0004 a0002c0002t0007 others(2): Show a0001c0001t0055 a0002c0002t0004 a0002c0002t0007 a0002c0002t0062 a0003c0006t0003	a0001c0001t0055g0089 a0002c0002t0004g0082 a0002c0002t0007g0001 others(2): Show a0001c0001t0055g0089 a0002c0002t0004g0082 a0002c0002t0007g0001 a0002c0002t0062g0093 a0003c0006t0003g0090	5	99	0.0505	-719	c.100 others(19): Show c.100+36675_100+37393del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ALDH6A1_chr14_74051847_74089453	74078630	TGATTCTC others(712): Show TGATTCTCCTGCCTCAGCTTTCTGAGTAGCTGGGATTACAGGCATGTGCC ACCACATCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCAACA TGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCCT CAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCCA CATTTTTGTATTTTTAGTAGAGACAGTGTTTCACCTTGTTGGCCAGGTTG GTCTCGAACTCCTGACCTCAGGTGATCTGACCATCTTGGCCTCCCAAAGT GCTGGGATTACAGGGGTGAGCCACCCCACCAGGCTGCCATTAACTCTTTA AGTTTCCCAAGGCTTGGTCCTAGGCCTTCTTTTCTTCTCATTCTGTATAT GCTCCTTGGGTGATTTTATCAACTCTCATGGCTTAACTATCTAGATCCTG ATGATGCCCAACTCTTTAGTCCTTGGCCAGTATTTTCCTCTTCAGGTGAT ACCCACGTAATTATCTTTACCACATCTCTATTTGGATGTTACTTGGGCAC ATGTTAAAAAAAGGTGGCTGGGCACAGTAGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCTGAGGTGGGAAGATCACTTGCGTTCAGGAATTTGAGAC CTGCCTGCACTCAATGGAGTACAATGGCGCAATCTCGGCTCACTGCAACC TCCACCTCCCGGGTTCAGGC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG06807.hp1 NA19043.hp1 HG02145.hp1 HG06807.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0112 a0001c0002t0001g0120 a0001c0002t0001g0121	3	400	0.0075	-719	c.49- others(15): Show c.49-4332_49-3614del		ALDH6A1	ENSG00000119711.13	transcript	ENST00000553458.6	protein_coding	1/11						chr14	TogoVar
HECW1_chr7_43107647_43571001	43181064	TTTTAAGA others(712): Show TTTTAAGATTCCACATATGAGGGAGTTCATGTGGTATTTGTCTTTCTGTG CCTGGCTTATTTCACTTAACATAATGTCCTCCAGGTTCATCCATGTTGTG GCAAATGACACCATTTCATTCTTTTTTATGGCTGAATAGTATTTCATTGT GTATATATACCATACTTTATCCATTCATGTCTTGATGGATACTTAGGTTG TTTCCATGGCTTGGCTGTTGTGAATACTGCTGCAATAAATAAGGGAGTGC TGATCTCTTGGACGTATTGATTTCATTTCCTTTGGATAAATATTCAGCAG TGGGATTGCTGGATCATATAGTAGTTCTATTTTAAATTTTTTGAGGAACC TCAACACTGTTTTCCATAATGGCTGTACAAATTTACACTTCCACCAACAT TGCATAAGGGTTTCTTTTTCTCCACACCCCACCAGCACTTGTTTTCTTTT ATCTTTTTGATAATAGCCATTCTAACTGGAGTGAGACAGTATCTCATTTT GATTTGCATTTCTCTGATGATTGGTGATGTTGAGTATTTTTTTACATACT TGTTGACTATTTGTATTCTTTTGAGAAATGTCTATTCAGATCTTTTGTTC ATTTTAAAATTGAATTATTTGGGTTCTTTGCTATTGAGTTGTTTGAGTTC CTAATATATTCTGGATATTAACTCTTTGTCAGATGTATAGTTTCCTAATA TTTTCTCATATTGTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA20129.hp1 HG02572.hp2 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0021 a0001c0004 a0001c0021	a0001c0004t0003 a0001c0021t0028 a0001c0004t0003 a0001c0021t0028	a0001c0004t0003g0077 a0001c0021t0028g0093 a0001c0004t0003g0077 a0001c0021t0028g0093	2	179	0.0112	-719	c.-31 others(19): Show c.-31-62807_-31-62089del		HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr7	TogoVar
MYO1G_chr7_44957662_44984015	44960927	GGGGCTGA others(712): Show GGGGCTGAGGGGGCAGAGGGGCTCAAGGGGCTGAGGGCTGAGGGGCTGGG GCTGAGGGGGCAGAGGGGCTCAAGGAGGCTGAGGGCTGAGGGGGTTGAGG GGGCTGAAGGGGCTGAGGGCTGAGGGGCTGAGGGGTTGAGGAGGCTGAGG GGCTGAAGGAGGCTGAGAGATGAGAGGCTGAGAGCTGAGGGGCTGAGGGG GCTGAGAGGGCTGAGGGGCTGAGGGGGCTGAGAGGGCTGAGAGGGCTGAG AGGGCTGAGGCGCTGAGGGGTTGAGGGGGCTGAGGGCTGGGGGGCTGAGG GCTGAGGGGGGTAAGGGCTGAGGGCTGAGGGAGCTGAGGGTTGAGGGGCT GAGGGGGCTGAGAGGGCTGAGGGGCTGAGTGGTTGAGGGGGTTGAGGGGG CTGGGGGCTGGGGGGCTGAGGGCTGAGGGGGGTAAGGGCTGAGGAGGGAG CTGAGGGGGCTGAGGGGATGAGGGGTTGAGGGGACTGAGGACTGAGGGGC TGAGGGTTTGAGGGGGCTGAGCACTGAGGGGGTTGAGGGGGCTGGGGGCT GAGGGCTGAGGGGGTTAAGGGCTGAGGGCTGAGGGGCTGAGGGGGCTGAG AGGGCTGAGGGGCTGAGTGGTTGAGGGGGTTGAGGGGGCTGGGGGTCGGG GGGCTGAGGGCTGAGGGGCTGAGGGGTTGAGGAGGCTGAGGGCTGAGGGG CTGAGGGCCTGAGGGACTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0037 a0002c0005t0001g0037	1	322	0.0031	-719	c.10 others(11): Show c.1093_*1811del		MYO1G	ENSG00000136286.16	transcript	ENST00000258787.12	protein_coding					1734		chr7	TogoVar
PPP4R1_chr18_9541794_9619559	9591136	TCAGAAGT others(712): Show TCAGAAGTTCAAGACCAGCCTGGCCAACACGGAGAAATCCCATCTCTACT AAAAATACAAAAATTAGGCAGGCATGGTGGTGCATGCCTGTAATCCCACC ACTCGAGAGGCTGAGGCAGAAGAATCACTTGAACCCAGGAGAAGAAGGTT GTAGTGAGCCAAGGTCATGCCACCACACTCCAGCCTGGGTGACAGAGTGA GACTCCATCTCCAAAAAAAAAAAAGATACCCAAATAGCCAGTAAGTGTAT AACCAGGTATGAACTTCACTGGTTACTGAGGAAATGCAAATTACAACCAC AATGAGATACCACTATACATCCATCCATTCCGGGGGAAAATAAAAGCAGA TGGTAAATTTTGGGGAATAAAAAAATCAAGATAAAAGCTAATGAAAGGTA AGGCAGAAGACCGAAAGGTTCTCAGCTGCTTATTTGTCTAAACTAAGGAT ACATATTTCATTCACTTCAGAGCTATGTTATTATTCAATAGTCTTTATCT TACCCAGCTATCACAATAAGCCCAGTCCTAAAAATTAGAAACCTCAGGGT CAAATCCTCTCTCTTCCTCACTCTATCCAGAGGTTAGCCTTGGAATCCCT CCTAGTACTTCAATTTCTATCCAACAATTCATCCTTATAACAATTAACTG GCTGGTCACGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGCTTGAG GCAGGTGGATCACTTGAGGC	T T	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	386	0.0026	-719	c.295 others(17): Show c.295+1913_296-2284del		PPP4R1	ENSG00000154845.16	transcript	ENST00000400556.8	protein_coding	4/19						chr18	TogoVar
GALNT9_chr12_132191372_132334589	132231107	CCCCTACT others(711): Show CCCCTACTGCCACACACTCCATGGGGCGACAGAGGAGACAGCGTGGAGCC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCC CTACTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCT AGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAG TGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTG CCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCC ACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCAC ACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTACTGCCACAC ACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACAC TCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTC GATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGA TGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATG GGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGG GTGACAGGGACAGCGTGGAGCCCCTAGTGCTACACACTCGATGGGGCGAC AGAGGAGACAGCGTGGAGT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02683.hp1 NA18964.hp2 others(3): Show HG02027.hp1 HG02683.hp1 NA18964.hp2 NA18999.hp2 NA19002.hp2 NA19070.hp1	a0001 a0005 a0001 a0005	a0001c0011 a0001c0013 a0001c0020 others(1): Show a0001c0011 a0001c0013 a0001c0020 a0005c0033	a0001c0011t0001 a0001c0013t0004 a0001c0020t0001 others(1): Show a0001c0011t0001 a0001c0013t0004 a0001c0020t0001 a0005c0033t0001	a0001c0011t0001g0065 a0001c0011t0001g0116 a0001c0013t0004g0036 others(3): Show a0001c0011t0001g0065 a0001c0011t0001g0116 a0001c0013t0004g0036 a0001c0013t0004g0095 a0001c0020t0001g0115 a0005c0033t0001g0114	6	181	0.0331	-718	c.107 others(21): Show c.1077+16085_1077+16802del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
RASA3_chr13_113972783_114137623	114006593	CCACTCCT others(711): Show CCACTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTG CTGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTT ACCCTTCTCCCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCC ACTCCTGCCCTGCTGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCT GGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTAC CCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCTC CTGCCCTGCTGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGAC GCCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACCC TTCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCTTCTCCCCACTCCT GCCCTGCCGGACACCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGAT GCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCTT CTCCCCACTCCTGCCCTGCCGGACACCACCTTACCCTTCTCCCCTCCTGC CCTGCCGGACGCCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCA CCTTACCCTTCTCCCCCCTCCTGCCCTGCCGCCCCCCTCCTGCCCTGCCG GACACCACCTTACCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	62	0.0161	-718	c.174 others(17): Show c.1742+222_1742+939del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23						chr13	TogoVar
RNH1_chr11_489515_512242	510431	ATCTCTAC others(711): Show ATCTCTACTAAAAATACAAAAAAATGGCTGGGCACAGTGGCTCACACCTG TAATCCCAGCATGTTGGGAGGCCAAGGCAGGCAGATCATTTGCGGTCGGG AGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAATAA TACAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTC GGGAGACTGAGGCATAAGAATCGCTTGAACCCAGGAGGCAGAGGTTCTGG TGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAAAAGCAAAA CTCCATCTCAAAAAAAAAATACAAAAAAATGAGCTGGGCGTGGTGGCCTG CACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAA CCCAGAAGGTGGAGGTTGCGGTGAGCAGAGACCACACCACTGCACTCCAG CCTGGGTGACAGAGTGAACCATGTCTCTAAATAAATAAATAATATGTTTG TCTGAAAGTGCCTTTTTAACAAAGTATGAGATGTGTACATAAAGTGCACA TAGCGCAAGTGTCGCACGCAGTGGATTTTCACACGCAGCACGTGAAATGG GAAAACACTGGCCCGGCACGGTGGCTCACACCTGTCATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGG CTAACACGGTAAAACCGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18960.hp2 NA18994.hp1 others(1): Show NA18955.hp1 NA18960.hp2 NA18994.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	4	386	0.0104	-718	c.-42 others(11): Show c.-4297_-3580del		RNH1	ENSG00000023191.17	transcript	ENST00000354420.7	protein_coding					3190		chr11	TogoVar
RPH3AL_chr17_207389_357807	287497	TCCCTCTC others(711): Show TCCCTCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACC TCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGA CCTCACACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCA GACCTCGCACCCTCTCTCTCCACCGTCAGAGCTCGCACCCTCTCTCTCCA CCGTCAGACCTCGCACCCTCTCTCTCCACCGACAGACCTCGCACCCTCTC TCTCCACCGACAGACCTCGCACTCTCTCTCCACCGACAGACCTCGCACGC TCTCTCTCCACCGTCAGACCTCACACTCTCTCTCCACCGTCAGACCTCAC TCCCTCTCTCCACCGACAGACCTCACACTCTCTCTCCACCGACAGAGCTC ACACTCTCTCTCCACCGTCAGACCTCACTCTCTCTCTCCACCGTCAGACC TCCCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCA GACCTCACACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGT CAGACCTCACTCCGTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCA CCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTC CACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCGCACCCTCTC TCCACCGTCAGACCTCGCA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02895.hp2 HG01192.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0036 a0001c0003t0030 a0001c0003t0036	a0001c0003t0030g0122 a0001c0003t0036g0064 a0001c0003t0030g0122 a0001c0003t0036g0064	2	100	0.0200	-718	c.352 others(17): Show c.352-6361_352-5644del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739450	GGCCTGAT others(711): Show GGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGA TGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGA AGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGTGGCCTGA TGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18992.hp1 NA18979.hp1 NA18992.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0004 a0003c0003t0001 a0003c0003t0004	a0003c0003t0001g0007 a0003c0003t0004g0007 a0003c0003t0001g0007 a0003c0003t0004g0007	2	369	0.0054	-718	c.-34 others(11): Show c.-3462_-2745del		SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding					3420		chr17	TogoVar
VAV2_chr9_133756894_133997324	133827734	GGCATCAC others(711): Show GGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGG CATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCA TCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATC GCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCAC CACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCA CCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACC TACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTA CTGCTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACC GCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGC TGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTG CGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCG CCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCC CACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGCGCCCA CTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACT GGGGCTGACCACTGACCAC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0013 a0002c0005t0013	a0002c0005t0013g0182 a0002c0005t0013g0182	1	198	0.0051	-718	c.449 others(17): Show c.449+5820_449+6537del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
WDR81_chr17_1719704_1743585	1739405	AGCCTGAT others(711): Show AGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCT GATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGC GCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGG ACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGA AGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGA TGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGTGGCCTGATGCAG GGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGC GCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGG ACAGTGAGGGTGGGAGGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0022 a0022	a0022c0065 a0022c0065	a0022c0065t0001 a0022c0065t0001	a0022c0065t0001g0096 a0022c0065t0001g0096	1	384	0.0026	-718	c.17 others(11): Show c.1721_*2438del		WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding					821		chr17	TogoVar
WDR81_chr17_1719704_1743585	1739450	GGCCTGAT others(711): Show GGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGA TGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGA AGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGTGGCCTGA TGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18995.hp2 NA18979.hp1 NA18995.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0036 a0001c0003t0001g0036	2	355	0.0056	-718	c.17 others(11): Show c.1766_*2483del		WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding					866		chr17	TogoVar
GALNT9_chr12_132191372_132334589	132231787	TACACACT others(710): Show TACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTACTGCCACACACTCG ATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGAT GGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGG GGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGG CGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCG ACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGTGAC AGGGACAGCGTGGAGCCCCTAGTGCTACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGTGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAG CGTGGAGTCCCTAGTGCC	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0003 a0001c0036t0003	a0001c0036t0003g0055 a0001c0036t0003g0055	1	148	0.0068	-717	c.107 others(21): Show c.1077+15407_1077+16123del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GNGT1_chr7_93901567_93916265	93912509	ATACTACA others(710): Show ATACTACAATTTATTTGTTTATTTAATTGTGGTTTGCCTCTAGAAGTTTT CCACCTGCAAATTAGTATTTATTTAGTGAAGTGTTCAGTATGGCCCCTTT CCTCCGATTAAAATAAATACAAAGTAAATATTTGCTATGACATTTAGTTT ACCATTGGAGACAGATTCTGAAGCCCAGCAATGTGAAGTTAAAACCCCGA CTCTTCCACCTTGTCATTGAGAACTTTGGACAAATGACCAAATGACTTCA ACTCTTTGAACATTTTTTTTTTTTTTTGTATAAAACTAGTGATTAGGATA GATTATCTGAATACTTGTAATCCCTTAGATCACAAATGGGTATATAAAAG GAAGCCTAATAAATGTCCTCTATTATTATACTTCCCGTGGACATTTTCCC ACCATCTGGAATTTGGTCATACTGATCCCTCCACCTGAAATCTCCCTCCA CTCCACCCCACCCCATTTTCAGCCTTTTGAAATCCTACTCTTCTATGAGA CTTTCTCTCCCAATCTACCTCAAGAGTATTTTGTGTATCTCTTAAGTCAT TTAACATTACTTTACTTTCTCTTATTATAATTTCTATGGTTGTCTTAATT TCAGTGCTGTATTGGAAATTTCCCAAGCCAGAAGATCTGTTCATCTTTGA AACTGTCATATCAACTAACAAATTGTCTGGACAATGAAATTGACTTTAAA AGCAGGCAAGAATAGTGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(251): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18976.hp1 NA18976.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0005g0001 a0001c0001t0006g0001	254	428	0.5935	-717	c.15 others(11): Show c.1592_*2308del		GNGT1	ENSG00000127928.13	transcript	ENST00000248572.10	protein_coding					1245		chr7	TogoVar
NUBPL_chr14_31556404_31866224	31734961	TCTAGGCC others(710): Show TCTAGGCCCAAATTTGTTGACTTTACTACTGACATTTTGGACCAGATAAT CCTGTATTGGGAGGGAAAGAAGATTGTCCTGTGTACTAGAAGGTGTTTAG TAGCATCTTTGGCTTCTGTCTTCTAACTGTCCATAGCAGCCTTACTTGTG ACAATTAAAAATGTCTGTAGACGTTACCAAATGTCCTGGAGTAGGGTGAG ACCAGAATTGCAACCTAGATGGCAACTACTGCTCTAGGTTGATTTCTTTT TGTCATTTATGTAGACCTAGTAGATTTCTATGTAATTTGTATATATATTA AATTACCTTTTCAATTAATAGCAAACCAGGAAGAACATGGCAAAGTCAAC TGTTAGCTGCTTCAAACAGTAGAAAAATTACAGATTGGATATTGTCACTT GTACCTTATTTGGTATCACAAGTAGTATCTGAACCAAGGACGAAACATAC ACAGACTAAACATATGTGGAACCAAACACTATATGGTTCAAATAACTGAA AAGTATAGGGGATTGGTGTATGTCTATTTTGTGTCTGCTTCTTAAATGTT TCCCACCGTTTTATTAATCAGGGTGAAATACATTTAAAAAATTTTAAACA TCAGAGTGAATGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCTGAGGCGGGCGAATCACAAGGCCAGGAGTTCGAGACCAGCCT GGCCAACATGGTGAAACC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0007 a0001c0001t0026g0007	1	266	0.0038	-717	c.514 others(19): Show c.514-52816_514-52100del		NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCA_chr17_66297613_66815743	66798866	GTGGTGGT others(710): Show GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGACGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGT AATGGTGGTGGTGATGGTGGTGGTAGTGACGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19010.hp2 NA18942.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0084 a0001c0001t0005g0173 a0001c0001t0005g0084 a0001c0001t0005g0173	2	157	0.0127	-717	c.185 others(19): Show c.1855-4995_1855-4279del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
SCT_chr11_621309_632181	631464	GATTCTCC others(710): Show GATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCA CCATGCCTGGCTAATTTTTTTGTATTTTTAGTAAAGACGGGGTTTCACCA TGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCGCCCACCTCG GCCTCCCAAAGTGCTGGGATTACAGATGTGAGGCACCGTGCCCAGCCATA TTTTTTTTAAGACAGAGTCTCGCACTGTTGCCCAGGCTGGAGTGCAGTGG CGTGTTCTTGGCTCACTGTAACCTCTGCCTCCCGGGATCAAGCGATTGTC CCACCTCCGCCTCCCAAGTAGCTGGGATTATGGGCGCCCGCCAGCATACC CAGCTAATTTTTGTATTTGTAGTAGAGACGGGGTTTCACCATGTTGGCCA GACTGTTCTCGAACTCCTGACCTCAAGGGATCCGCCTGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACTGAACCCGGCCATTTGGGTAT CTTCTTTGAAGAAATGTCTATTCAAGTCCTTTACTCATTTTCATTATTTA TTTTATTTTGAGACAGGGTCTCACTTTGTTGCCCAGCTTGGAATATGTTG GCTCAATCACAGCTCACTGCGGCCTCAACCTCCTGGACTCAAAGGATCCT CCCACCTCAGATTCCCAAAAAGCTGTGACTATAGGCTCACGCCACCACAC CCAGCTAATGTTTGTATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01168.hp2 HG01169.hp2 others(13): Show HG00639.hp2 HG01168.hp2 HG01169.hp2 HG01346.hp2 HG01433.hp2 HG01884.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02818.hp1 HG03041.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp2 HG03516.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 a0001c0001t0001 a0001c0002t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0002t0001g0003 a0002c0004t0001g0006 a0001c0001t0001g0001 a0001c0002t0001g0003 a0002c0004t0001g0006	16	410	0.0390	-717	c.-50 others(11): Show c.-5038_-4322del		SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding					4284		chr11	TogoVar
FHIP1A_chr4_151404176_151675503	151421569	GTCTTGGC others(709): Show GTCTTGGCTATATATCCCAATACATAGACCAGTGCATGACATTCAATAAA TATTTGTTGAATTGAGTTGGGGTTTGCTAACCTGGAACCCTTCCCTCCCC CGAATCTCTTTGTTAATTGAGGCTTCCTGTTGCATCCTCTGGGACCTCTC TTACTTTTTTCTTCTTGTTGCTGAAGACCCCTGTTTCTAGACCTAGCTAG TTCCTTCAAGCCATACAACTATCGCCTTCCTAGGTCTGTGCCTTTGTAAT AGCCACACCAATAACAGAAGTGGCAGTTTCCTTGGCAGTTCATGGTTTGC AAAGCACTTTCACATATATGATCTAATTTGAGGTATTCTTGAGTCTTGAC AGTGATGGTACTCTTTAGGGCTTGCCTTTTACCAAAGTATGCAAGTTAGC AAAATCTTGTTCTACTAGGGGATGCAACCATTTTTAATGATGTTCCAGGC CTATTTTTTCCTTGGCTGCACTGTTGTCAAATTATATATGAGGGGTATGC TGCTTTGACAAAGTCTTCTGGCCCACTAGGAACATTCATTAGAGTCCTCG AAGAGTACCTGTATGGTAATAAGATCCTCAAGTAAAGTGACAAAAATGGG AAAGAAAAAAAAAGAAGCAGTTGACCATTAACAAATATTTATGAGACATT AAAAAAATATATATATATATTAACTCTTTCCCCACATAAGAATGTAAAGC TTTGTGATATTTGATAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	250	0.0040	-716	c.-35 others(21): Show c.-356+12172_-356+12887del		FHIP1A	ENSG00000164142.16	transcript	ENST00000435205.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
OTUD7A_chr15_31470398_31875673	31510763	TATGTATA others(709): Show TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATATA TGTATATCTATATGTAACATATATGTATATCTATATGTAACATATATGTA TATCTATATGTAACATATATGTATATCTATATGTAACATATATGTATATC TATATGTAACATATGTATATCTATATGTAACATATGTATATCTATATGTA ACATACATGTATATCTATATGTAACATACATGTATATCTATATGTAACAT ACATATATATGTATATCTATATGTAACATACATATGTATATCTATATGTA ACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGTA ACATACATATGTATATCTATATGTAACACACATATGTATATCTATATGTA ACACACATACATATGTATATCTATATGTAACACACATACATATGTATATC TATATGTAACACACATACATATGTATATCTATATGTAACACACATATATA TGTATATCTATATGTAACACACATATATATGTATATCTATATGTAACACA CATATATATGTATATCTATATGTAACACATATATATGTATATCTATATGT AACACACACATATATGTATATCTATATGTAACACACACATATATGTATAT CTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0135 a0001c0001t0025g0135	1	243	0.0041	-716	c.894 others(17): Show c.894-7661_894-6946del		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
PARVB_chr22_44019302_44177939	44114388	AGATACAT others(709): Show AGATACATTGTTACTAAGGCCCTGCACCAACACAGATACATTGTTACTAA GTAAGGCCCTGCACCAACACAGATACATTGTTACTAACTAAGGCCCTGCA CCAGCACAGATATATTGTTACTAAGGCCCTGTACCAACACAGATACATTG TTACTAACTAAGGCCCTGCACCAACACAGATATGTTGTTACTAAGGCCCT GCACCAACACAGATACATTGTTACTAAGGCCCTGCACCAACACAGATACA TTGTTACTAAGTAAGGCCCTGCACCAACACAGATACGTTGTTACTAACTA AGGCCCTGCACCAACACAGATACGTTGTTACTAAGTAAGGCCCTGCACCA ACACAGATACATTGTTACTAAGGCCCTGCACCAACACAGATACATTGTTA CTAAGTAAGGCCCTGCACCAACACAGATGCATTGTTACTAACTAAGGCCC TGTACCAACACAGATACATTGTTACTAGCTAAGGCCCTGCACCAACACAG ATACATTGTTACTAAGTAAGGCCCTGTACCAACACAGATATATTGTTACT AACTAAGGCCCTGCACCAACACAGATACGTTGTTACTAAGTAAGGCCCTG CACCAACACAGATACATTGTTACTAAGGCCCTGCACCAACACAGATACAT TGTTACTAAGTAAGGCCCTGCACCAACACAGATACATTGTTACTAACTAA GGCCCTGCACCAGAACG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp1 HG02895.hp2 others(2): Show HG02717.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0004 a0001c0002t0025 a0001c0001t0009 a0001c0002t0004 a0001c0002t0025	a0001c0001t0009g0129 a0001c0001t0009g0321 a0001c0002t0004g0128 others(2): Show a0001c0001t0009g0129 a0001c0001t0009g0321 a0001c0002t0004g0128 a0001c0002t0025g0121 a0001c0002t0025g0172	5	330	0.0152	-716	c.274 others(17): Show c.274-4632_274-3917del		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
RPH3AL_chr17_207389_357807	287555	TCTCTCCA others(709): Show TCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCACAC CCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCTCCACCGTCAGAGCTCGCACCCTCTCTCTCCACCGTCAGA CCTCGCACCCTCTCTCTCCACCGACAGACCTCGCACCCTCTCTCTCCACC GACAGACCTCGCACTCTCTCTCCACCGACAGACCTCGCACGCTCTCTCTC CACCGTCAGACCTCACACTCTCTCTCCACCGTCAGACCTCACTCCCTCTC TCCACCGACAGACCTCACACTCTCTCTCCACCGACAGAGCTCACACTCTC TCTCCACCGTCAGACCTCACTCTCTCTCTCCACCGTCAGACCTCCCACCC TCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTCAC ACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTC ACTCCGTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGA CCTCACACCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCA GACCTCACTCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGT CAGACCTCGCACCCTCTCTCTCCACCGTCAGGCCTCACACCCTCTCTCCA CCGTCAGACCTCACACC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0120 a0001c0001t0006g0120	1	105	0.0095	-716	c.352 others(17): Show c.352-6417_352-5702del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
CCDC200_chr17_43216420_43233623	43232908	AATTACTA others(708): Show AATTACTACGCAGCCATAAAAAAGGATGAGTTCATGACCTCTGCGGGAAC GTGGAGGGAGGAAAAGGCCTCATTCTCAGCAAACTGACACAGGAAGCGAA AACAAACACCGCATGTTCTCGCTCCTAAGTGGGAGTTGAACAGCGAGAAC ACATGGGACACAGGGAGGGGAACATCACACGCCGGGCCCTGACGGGGCGT GGGGGGCAAGGGGAGAGAGAGCATTAGGACAAATAGCCAACGCATGCGGG GCTTCAAACCTAGACGACTGGTGGATAGGTGCAGCAAAGCACCGTGGCAC ACGTGTACCTATGTTCCAAACCTGCACGTCCTGCACATGTACCCCAGAAC TTGGGAGGGGGTGGGGGAAACCAAAAGAGCGAGGGAGAGGCGGGGGGGGG GAAGAGAGAGAGAGAGGGAAAGAGAGAGAGAGACAGAGAGAGGAGAGAGA GAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGA GAGACGGAGAGACAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGACAGGAGAAAGAAGAACTCCGGGTGGGTCCCATTC CTTTAAAAGGTCGCCACCCACTCGACTGCCAAGCTGAGATCCTAAGGACC TCCCCAAAGGAGGAGGTCGTGGCCTTCCCAAAGCGCAGTAGCCACGGTGG AAACGACAGCGTGCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	332	0.0030	-715	c.-50 others(11): Show c.-5069_-4355del		CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding					4286		chr17	TogoVar
DAGLB_chr7_6404129_6452954	6449700	AGAGGTTG others(708): Show AGAGGTTGCAGTGAGCCAAGATCGCGCCCTGCACTCTAGCCTGGCAACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAATTACACTCCAGCCCCTGG CAAAGGCCTTTCCCTGGTAGTCACACATCAAAAGTTTGTAAGGGCTCATT TATCTGTCTCCCTGGTTACTATTTGCCTCTATCACCCACCCCACTGCCTG CCGCCTTTTCCCCCTCTGAAAAGACATCAGGGTCATTTTTGCTCCAGGGG TTCTACATTCTGTGTTTCCTCTGCCAGGAATAGCCCCCCTGCAGGTTTTC TGTTACTGGATGGAAAGTCTTGGCTGTGAGTTGGTCAGGGGCTTGCGTGT TGAACCGAGAATTGCAACACAAGGCCGGGCACGGTGACTCACGCCTGTAA TCTCAGCACTTTGGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGGG TTCAAGACCAGCCTGGCCAACACGGCGAAACCCTGTCTCTACTGAAAATA CAAAAACTAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTG GGAGGCTGAGGCAGGAGGATCACCTGAAGTCAGGAGTTCAAGACCAGCCT GGCCAACATGGCGAAACCCCGTCTCTCCTAAAAATTAGCTGGATGTGGTG GCACATGCCTGTAATTCCAGCTACTCCGGAGGCTGAGGCAGGGGAATCGC TTGAACCTGGGAGGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0146 a0001c0002t0002g0146	1	325	0.0031	-715	c.-25 others(11): Show c.-2573_-1859del		DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding					1747		chr7	TogoVar
DAGLB_chr7_6404129_6452954	6449986	CCCTGCAG others(708): Show CCCTGCAGGTTTTCTGTTACTGGATGGAAAGTCTTGGCTGTGAGTTGGTC AGGGGCTTGCGTGTTGAACCGAGAATTGCAACACAAGGCCGGGCACGGTG ACTCACGCCTGTAATCTCAGCACTTTGGGGAGGCCGAGGCGGGTGGATCA CCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACACGGCGAAACCCTGT CTCTACTGAAAATACAAAAACTAGGCCAGGCACGGTGGCTCATGCCTGTA ATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACCTGAAGTCAGGAG TTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTCCTAAAAATT AGCTGGATGTGGTGGCACATGCCTGTAATTCCAGCTACTCCGGAGGCTGA GGCAGGGGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGA TCGCGCCCTGCACTCTAGCCTGGCAACAGAGCAAGACTCCGTCTCAAAAA AAAAAAAAAAATTACACTCCAGCCCCTGGCAAAGGCCTTTCCCTGGTAGT CACACATCAAAAGTTTGTAAGGGCTCATTTATCTGTCTCCCTGGTTACTA TTTGCCTCTATCACCCACCCCACTGCCTGCCGCCTTTTCCCCCTCTGAAA AGACATCAGGGTCATTTTTGCTCCAGGGGTTCTACATTCTGTGTTTCCTC TGCCAGGAAGAGTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 NA18906.hp2 HG01496.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0009 a0001c0004 a0002c0009	a0001c0004t0002 a0002c0009t0003 a0001c0004t0002 a0002c0009t0003	a0001c0004t0002g0197 a0002c0009t0003g0215 a0001c0004t0002g0197 a0002c0009t0003g0215	2	377	0.0053	-715	c.-28 others(11): Show c.-2859_-2145del		DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding					2033		chr7	TogoVar
DAGLB_chr7_6404129_6452954	6450047	TGTTGAAC others(708): Show TGTTGAACCGAGAATTGCAACACAAGGCCGGGCACGGTGACTCACGCCTG TAATCTCAGCACTTTGGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAG GGGTTCAAGACCAGCCTGGCCAACACGGCGAAACCCTGTCTCTACTGAAA ATACAAAAACTAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAACACT TTGGGAGGCTGAGGCAGGAGGATCACCTGAAGTCAGGAGTTCAAGACCAG CCTGGCCAACATGGCGAAACCCCGTCTCTCCTAAAAATTAGCTGGATGTG GTGGCACATGCCTGTAATTCCAGCTACTCCGGAGGCTGAGGCAGGGGAAT CGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCGCCCTGC ACTCTAGCCTGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAA TTACACTCCAGCCCCTGGCAAAGGCCTTTCCCTGGTAGTCACACATCAAA AGTTTGTAAGGGCTCATTTATCTGTCTCCCTGGTTACTATTTGCCTCTAT CACCCACCCCACTGCCTGCCGCCTTTTCCCCCTCTGAAAAGACATCAGGG TCATTTTTGCTCCAGGGGTTCTACATTCTGTGTTTCCTCTGCCAGGAAGA GTCCTCCTGCAGGTTTTCTGTTACTGGATGGAAAGTCTTGGCTGTGAGTT GGTCAGGGGCTTGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG01070.hp2 others(19): Show HG00280.hp2 HG00642.hp2 HG01070.hp2 HG01243.hp1 HG01928.hp2 HG01943.hp1 HG02135.hp2 HG02451.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03669.hp2 NA18961.hp2 NA18964.hp1 NA18967.hp2 NA19043.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0004t0002 a0001c0004t0011	a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 others(19): Show a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0343 a0001c0001t0002g0184 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0006g0372 a0001c0004t0002g0202 a0001c0004t0002g0204 a0001c0004t0002g0206 a0001c0004t0002g0272 a0001c0004t0002g0273 a0001c0004t0011g0203	22	378	0.0582	-715	c.-29 others(11): Show c.-2920_-2206del		DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding					2094		chr7	TogoVar

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