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
PLEKHG4B_chr5_87168_194966	141104	C C	CCCCCTGC others(724): Show CCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCTG CATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACACCC CCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCCCCT CCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCACCCCCTCC CCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTGCACA CCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCATC TCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCC CGCACACCCCCACCCCCTCCTCTGCACACCCCCACCCCCTCCCCGCACAC CCCCATCTCCTCCCCTGCACACCCCACAACCT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp2 HG01106.hp1 others(1): Show HG00733.hp1 HG01074.hp2 HG01106.hp1 HG01256.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0005 others(1): Show a0001c0001 a0001c0002 a0002c0005 a0003c0004	a0001c0001t0017 a0001c0002t0017 a0002c0005t0096 others(1): Show a0001c0001t0017 a0001c0002t0017 a0002c0005t0096 a0003c0004t0086	a0001c0001t0017g0069 a0001c0002t0017g0067 a0002c0005t0096g0123 others(1): Show a0001c0001t0017g0069 a0001c0002t0017g0067 a0002c0005t0096g0123 a0003c0004t0086g0041	4	27	0.1481	731	c.147 others(748): Show c.1477+402_1477+403insACAACCTCCCCTGCACACCCCCACCCCC TCCCCGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCC TCCCCTGCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCC ACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCAC CCCCTCCCCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCC CTGCACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACAC CCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACC CCCTCCCCGCACACCCCCACCCCCTCCTCTGCACACCCCCACCCCCTCCC CGCACACCCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACAC CCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	141104	C C	CCCCCTGC others(724): Show CCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAGCCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCTG CATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACACCC CCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCCCCT CCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCACCCCCTCC CCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTGCACA CCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCATC TCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCC CGCACACCCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCACACAC CCCCATCTCCTCCCCTGCACACCCCACAACCT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0003 a0003	a0003c0044 a0003c0044	a0003c0044t0002 a0003c0044t0002	a0003c0044t0002g0110 a0003c0044t0002g0110	1	24	0.0417	731	c.147 others(748): Show c.1477+402_1477+403insACAACCTCCCCTGCACACCCCCACCCCC TCCCCGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAGCCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCC TCCCCTGCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCC ACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCAC CCCCTCCCCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCC CTGCACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACAC CCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACC CCCTCCCCGCACACCCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCC CACACACCCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACAC CCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	141104	C C	CCCCCTGC others(724): Show CCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAGCCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCTG CATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACACCC CCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCCCCT CCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCACCCCCTCC CCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTGCACA CCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCATC TCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCC CGCACACCCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACAC CCCCATCTCCTCCCCTGCACACCCCACAACCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG02080.hp2 others(13): Show HG00438.hp1 HG00438.hp2 HG02080.hp2 HG02083.hp2 HG02165.hp2 HG02735.hp1 NA18747.hp2 NA18947.hp1 NA18947.hp2 NA18970.hp2 NA18983.hp1 NA18995.hp1 NA19012.hp2 NA19056.hp2 NA19068.hp1 NA19084.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0007 a0014 a0039	a0001c0001 a0001c0002 a0003c0004 others(4): Show a0001c0001 a0001c0002 a0003c0004 a0004c0054 a0007c0038 a0014c0013 a0039c0047	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0082 a0001c0002t0002 a0003c0004t0002 a0003c0004t0004 a0004c0054t0001 a0007c0038t0002 a0014c0013t0001 a0039c0047t0033	a0001c0001t0002g0001 a0001c0001t0002g0158 a0001c0001t0003g0028 others(13): Show a0001c0001t0002g0001 a0001c0001t0002g0158 a0001c0001t0003g0028 a0001c0001t0003g0076 a0001c0001t0010g0034 a0001c0001t0010g0115 a0001c0001t0010g0124 a0001c0001t0082g0104 a0001c0002t0002g0001 a0001c0002t0002g0113 a0003c0004t0002g0096 a0003c0004t0004g0011 a0004c0054t0001g0138 a0007c0038t0002g0101 a0014c0013t0001g0117 a0039c0047t0033g0068	16	39	0.4103	731	c.147 others(748): Show c.1477+402_1477+403insACAACCTCCCCTGCACACCCCCACCCCC TCCCCGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAGCCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCC TCCCCTGCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCC ACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCAC CCCCTCCCCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCC CTGCACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACAC CCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACC CCCTCCCCGCACACCCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCC CGCACACCCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACAC CCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	141104	C C	CCCCCTGC others(724): Show CCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAGCCT CCCCCTGCATACCCCACCCCCTCCCCTGCACACCCCCCCTCTCCCCTGCA CACCCCCACCCACTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCTG CATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACACCC CCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCCCCT CCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCACCCCCTCC CCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTGCACA CCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCATC TCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCC CGCACACCCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACAC CCCCATCTCCTCCCCTGCACACCCCACAACCT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0130 a0001c0001t0014g0130	1	24	0.0417	731	c.147 others(748): Show c.1477+402_1477+403insACAACCTCCCCTGCACACCCCCACCCCC TCCCCGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAGCCTCCCCCTGCATACCCCACCCCCTCCCCTGCACACCCCCCCTCTC CCCTGCACACCCCCACCCACTCCCCTGCACACCCCCACCCACTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCC ACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCAC CCCCTCCCCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCC CTGCACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACAC CCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACC CCCTCCCCGCACACCCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCC CGCACACCCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACAC CCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	141104	C C	CCCCCTGC others(724): Show CCCCCTGCAGACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCTG CATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACACCC CCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCCCCT CCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCACCCCCTCC CCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTGCACA CCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCATC TCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCC CGCACACCCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACAC CCCCATCTCCTCCCCTGCACACCCCACAACCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0118 a0004c0006t0001g0118	1	24	0.0417	731	c.147 others(748): Show c.1477+396_1477+397insGACCCCACAACCTCCCCTGCACACCCCC ACCCCCTCCCCGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTC CCCTGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCA CACCCCACAACCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCC ACCCCCTCCCCTGCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTC CCCTGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCA CACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCA CAACCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCT CCCCTGCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCA CACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACGCACA CCCCACCCCCTCCCCACACACTCCCACCCCCTCCCCGCACACCCCCATCC CCTCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCC GCACACCCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACACC CCCACCCCCTCCCCGCACACCCCCACCCCCTCCCCTGCACACCCCCACCC CCTCCCCGCACACCCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCT GCA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(724): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATAATATGTAATACACAATATATATTATATAAT AATATGTAATACACAATATATTATATAATATGTAATACACAATATATTAT ATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAA TATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTA ATACACAATATATTATATAATAATATGTAATACACAATATATTATATAAT AATATGTAATACACAATATATTATATAATAATATGTAATACACAATATAT TATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACATTATACATTATTATATAAGTATATGTAATACATTATACATTA TTATATAAGTATATGTAATATATATTATACATTATTATATAAGTATATGT AATATATATTATACATTATTATATAAGCATATAATATATAATACATAATA CATTATATATAAGCATATAACAATACATAATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0200 a0001c0001t0023g0200	1	19	0.0526	731	c.24+ others(748): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATAATATGTAAT ACACAATATATATTATATAATAATATGTAATACACAATATATTATATAAT ATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTAT ATAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAA TATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTA ATACACAATATATTATATAATAATATGTAATACACAATATATTATATAAT AATATGTAATACACAATATATTATATAATAATATGTAATACACAATATAT TATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACATTATACATTATTATATAAGTA TATGTAATACATTATACATTATTATATAAGTATATGTAATATATATTATA CATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAGCA TATAATATATAATACATAATACATTATATATAAGCATATAACAATACATA ATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RGS12_chr4_3288021_3444913	3341671	G G	GAGGGTGG others(724): Show GAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGG GTGTGGGGGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAG GGTGGAGAGATGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGT GGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGA GATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGA GGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTG GGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGG AGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGG TGTGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGG AGAGATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGG AGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATG GGGGTGTGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGG GTGGAGAGATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGGGGTG TGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAG AGATGAGGGTGTGGGGAGGGGACAAGGGTGGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0199 a0001c0005t0001g0199	1	16	0.0625	731	c.188 others(750): Show c.1882-1266_1882-1265insAGGGTGGAGAGATGGGGGTGTGGGGG GAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGA TGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGGGGTGTGGGGGGAG GGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGG TGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGT GGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGG GGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAG AGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGGG AGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATGGG GGTGTGGGCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAA GGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGG GGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGA TGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGG ACAAGGGTGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATGGGGG TGTGGGCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAGG GTGGA	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17			chr4	TogoVar
RPTOR_chr17_80539838_80971368	80930319	A A	ATCCTCAG others(724): Show ATCCTCAGCTCATCCCCAGCTCAGCTCAGCTCATTCTCAGCTCATCCCCA GCTCATCCTCAGCTCATCCTCATCCCCAGCTCATCCTCAGCTCATCCCCA CCTCATCCCCAGCTCATCCCCACCTCATCCCCACCTCATCCTCAGCTCAT CCTCAGCTCATTCTCATCCCCAGCTCATCCCCAGCTCATCCCCACCTCAT CCCCAGCTCCTCCCCACCTCATCCTCAGCTCATCCCCAGGTCATCCTCAG TTCATCCCCAGGTCATCCCCAGCTCATCCTCAGCTCAGCTCATCCTCAGC TCATCCTCAGCTCAGCTCATCCTCAGCTCAACCCCAGCTCATCTCCAGCT CAGCTCATCCCCAGCTCATCTTCAGCTCAGCTCATCCCCAGCTCATCCCC AGATCATCCCCAGCTCATCCCCAGCTCATCCTCAGATCATCCCCAGCTCA TCTCAGATCATCCCCAGCTCATCCTCAGATCATCCCCAGCTCATCCTCAG CTCATCCTCAGCTCAACTCATCCCCAGCTCAGCTCATTCCCAGCTAATCC TCAGCTCAGCTCATCCCCAGCTCATCCCCAGCTCAGCTCATCCCCAGCCC AGGTCATCCCCAGCCCATCCTCAGCTCATCCTCAGCTCATCCTCCACTCA TCCCCTGCTCATTCTCAGCTCATCTTCAGCTCAGCTCATCCCCAGTTCAT CCCCAGCTCATCCTCAGCTCCGCTCATCCTCG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0075 a0001c0075	a0001c0075t0012 a0001c0075t0012	a0001c0075t0012g0127 a0001c0075t0012g0127	1	194	0.0052	731	c.291 others(750): Show c.2919+4839_2919+4840insTCCTCAGCTCATCCCCAGCTCAGCTC AGCTCATTCTCAGCTCATCCCCAGCTCATCCTCAGCTCATCCTCATCCCC AGCTCATCCTCAGCTCATCCCCACCTCATCCCCAGCTCATCCCCACCTCA TCCCCACCTCATCCTCAGCTCATCCTCAGCTCATTCTCATCCCCAGCTCA TCCCCAGCTCATCCCCACCTCATCCCCAGCTCCTCCCCACCTCATCCTCA GCTCATCCCCAGGTCATCCTCAGTTCATCCCCAGGTCATCCCCAGCTCAT CCTCAGCTCAGCTCATCCTCAGCTCATCCTCAGCTCAGCTCATCCTCAGC TCAACCCCAGCTCATCTCCAGCTCAGCTCATCCCCAGCTCATCTTCAGCT CAGCTCATCCCCAGCTCATCCCCAGATCATCCCCAGCTCATCCCCAGCTC ATCCTCAGATCATCCCCAGCTCATCTCAGATCATCCCCAGCTCATCCTCA GATCATCCCCAGCTCATCCTCAGCTCATCCTCAGCTCAACTCATCCCCAG CTCAGCTCATTCCCAGCTAATCCTCAGCTCAGCTCATCCCCAGCTCATCC CCAGCTCAGCTCATCCCCAGCCCAGGTCATCCCCAGCCCATCCTCAGCTC ATCCTCAGCTCATCCTCCACTCATCCCCTGCTCATTCTCAGCTCATCTTC AGCTCAGCTCATCCCCAGTTCATCCCCAGCTCATCCTCAGCTCCGCTCAT CCTCG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	24/33			chr17	TogoVar
SEL1L2_chr20_13844247_13995614	13934373	C C	CATATATA others(724): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATTCCATATATATATATATTCCA TATATATATTCCATATATATATATATTCCATATATATATATTCCATATAT ATATTCCATATATATATATTCCATATATATATTCCATATATATATTCCAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATTCCATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATCTATTCCATATATATATATATTCCATATATATATCTATTCCATATA TATATCTATTCCATATATATATCTATTCCATATATATATCTATTCCATAT ATATATCTATTCCATATATATATCTATTCCAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	233	0.0043	731	c.115 others(748): Show c.115-2603_115-2602insATGGAATAGATATATATATGGAATAGAT ATATATATGGAATAGATATATATATGGAATAGATATATATATGGAATAGA TATATATATGGAATAGATATATATATGGAATATATATATATATGGAATAG ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATGGAATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATATGGA ATATATATATGGAATATATATATATGGAATATATATATATATGGAATATA TATATGGAATATATATATATATGGAATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SLIT3_chr5_168656740_169306139	168726523	G G	GGAGGCAG others(724): Show GGAGGCAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGAGAG GGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGCG AGGGAGAGGGAGGCAAGGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAG GCAAGGAGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGG AGGGAGGGTGGGAAGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAG GGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAG AGGGAGGGAGGGAGGGAGGGAGGGAGAGGGAGGGAGGGAGGGAGGGAGAG GGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAG GGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAG AGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGGAG GCAGGGAGAGGGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGCAG GGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGGGAGGGAGGCAGGGAGAG GGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGG AGGGAGACGGAGGCAGGGAGAGAGGGAGGGAGAGGGAGGCAGGGAGGGAG AGGGACGCAGGGGGGAGAGGTAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0069 a0001c0001t0024g0069	1	107	0.0093	731	c.227 others(750): Show c.2271-2040_2271-2039insTCTCCCTCCCTACCTCTCCCCCCTGC GTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCCTCTCTCCCTGCCTCCGT CTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCTT GCCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTCCCTCCCTGCCTCCCTCT CCCTCCCTGCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCCCTCT CCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGC CTCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCT CCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCTCCCACCCT CCCTCCCTCTCCCTCCCTCCCTCCCTCCCTCTCCCTCCCTCCCTCCCTCC CTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCT CCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCTTCCCACC CTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCT CCTTGCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCCTTGCCTCCCT CTCCCTCGCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCC CTCTCCCTCTCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCT GCCTC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGAAGGG others(724): Show AGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGG AGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAG GAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGC AGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGG GGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAA GGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGG AGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGG AGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGG GGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGG GGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGG GGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGC GAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGG GAGGGGGAGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAG GGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGA GAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	3	0.3333	731	c.12 others(742): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCT TCCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCC TCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGC CTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCC TCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCC TCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCC TCCCCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCC CCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCC CCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTT CCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCC TCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGC CCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCT CCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCC TTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(724): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGG AGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAG GAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGC AGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGG GGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAA GGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGG AGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGG AGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGG GGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGG GGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGG GGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGC GAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGG GAGGGGGAGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAG GGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGA GAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	3	0.3333	731	c.12 others(742): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCT TCCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCC TCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGC CTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCC TCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCC TCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCC TCCCCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCC CCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCC CCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTT CCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCC TCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGC CCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCT CCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCC TTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SRXN1_chr20_641615_658200	641939	G G	GGGGGGGG others(724): Show GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGTGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGC CTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGCGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGGTGGGGGGAGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0026 a0001c0002t0009g0026	1	411	0.0024	731	c.67 others(742): Show c.6774_*6775insAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCTCCCCCCACCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCC GCTGGGCCCCCCCGCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGCAACT CCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCC CCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCTCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCC CGCTGGGCCCCCCCCACCAGGCAACTCCACCCCCGCTGGGCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4675		chr20	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(724): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGGAAAG GAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGA GGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAG GAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGG GAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGA GGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGA AGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0317 a0001c0001t0005g0317	1	3	0.3333	731	c.597 others(748): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCC TCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTC CTTCCTTTCCTCCCCCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCC TCCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTC CCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCT CTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
SWAP70_chr11_9659077_9757993	9706252	T T	TTGGTGAT others(724): Show TTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATG CACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTA TACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTG TATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATC TGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGA TCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGT GATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTGTATACTT GGTGATCTGTATACACTGGTGATCTGTATACACTGGTGATCTGTGTATAC TTGGTGATCTGTATACACTGGTGATCTGTATACACTGGTGATCTGTGTAT ACTTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTA TACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTG TATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATC TGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGA TCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGT GATCTGTATACACTGGTGATCTGTGTATACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0210 a0001c0003t0003g0210	1	165	0.0061	731	c.241 others(748): Show c.241-7166_241-7165insGCACTGGTGATCTGTATACACTGGTGAT CTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGT GATCTGTATACACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTG GTGATCTGTATACACTGGTGATCTGTATACACTGGTGATCTGTGTATACT TGGTGATCTGTATACACTGGTGATCTGTATACACTGGTGATCTGTGTATA CTTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTAT ACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGT ATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCT GTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGAT CTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGT GATCTGTATACACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTG GTGATCTGTATACACTGGTGATCTGTATACACTGGTGATCTGTGTATACT TGGTGATCTGTATACACTGGTGATCTGTATACACTGGTGATCTGTGTATA CTTGGTGATCTGTATACACTGGTGATCTGTATACACTGGTGATCTGTGTA TACACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTG TAT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SYNDIG1_chr20_24464629_24671616	24530039	A A	AATACCCC others(724): Show AATACCCCTGGTGATGGTTTCAGTGGTGGAGATGATGACAGTGATGGTGG TGGTGATGGTAGTACTCCCGGTGGTGGTGTCAGTGGTGGGGATGGTGATG GTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGT GTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGATGGTAGTATTCC CGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTAGTA TTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGT AGTACTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGA CGGTAGTACTCCTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTG GTGATGGTAGTATTCCCAGTGATGGTGTCAGTGGTGGGGATGGTGATGGT GGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTATTCCCAGTGA TAGTGTCAGTGGTGGGGATGGTGATGGTGGTGGCGATGGTGGTATTCCTG GTGATGGTGTCAGTGGTGGGGAGAGTGGTGGTGATGATGGTAGTACCCCT GGTGGTGGTGATTATGAAAATGGCTATGTCAGTGATGCTGATTGTGATGG TGACTGAAGTTCTGGAGGTGATGGGGTAATGAAGGTAGTGATGGCTATGG TGGTGATGGTGGAGATAATGGAGATGGTGGTC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	121	0.0083	731	c.-78 others(750): Show c.-78-12979_-78-12978insACCCCTGGTGATGGTTTCAGTGGTGG AGATGATGACAGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGGTGGTG TCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGG TGATGGTGATGGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGATGGTG ATGGTGGTGGTGATGGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGATGGTGTCAGTGGTGG GGATGGTGATGGTGGTGGTGACGGTAGTACTCCTGGTGATGGTGTCAGTG GTGGGGATGGTGATGGTGGTGGTGATGGTAGTATTCCCAGTGATGGTGTC AGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGATGG TGATGGTGGTATTCCCAGTGATAGTGTCAGTGGTGGGGATGGTGATGGTG GTGGCGATGGTGGTATTCCTGGTGATGGTGTCAGTGGTGGGGAGAGTGGT GGTGATGATGGTAGTACCCCTGGTGGTGGTGATTATGAAAATGGCTATGT CAGTGATGCTGATTGTGATGGTGACTGAAGTTCTGGAGGTGATGGGGTAA TGAAGGTAGTGATGGCTATGGTGGTGATGGTGGAGATAATGGAGATGGTG GTCAT	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
THBS2_chr6_169210785_169258846	169242624	C C	CCTTCCCA others(724): Show CCTTCCCACCTTCCTATCTTCCCATCTTCCCACCTTCCCACCACTCCCAC CTTCCCACCACTCCCACCTTCCCACCACTCCCACCTTCCCACCACTCCCA CCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTCCCACCACTCCCAC CTTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCATCTTCCCACC TTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACC TTCCCACCTTCCCATCTTCCCATCTTCCCACCTTCCCACCACTCCCACCT TCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACTGCTCCCACCT TCCCACCTTCCCACATTCCCACCTTCCCACATTCCCACCTTCCCACCACT CCCACCTTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTC CCACATTCCCACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCC CACCTTCCCACATTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCC ACCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCA CCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCAC CTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCACC TTCCCACCACTCCCACCTTCCCACCTTCCCAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00738.hp2 others(24): Show HG00099.hp2 HG00639.hp1 HG00738.hp2 HG01261.hp1 HG01496.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02027.hp2 HG02056.hp2 HG02132.hp2 NA18969.hp2 NA18971.hp1 NA18975.hp1 NA18978.hp1 NA18983.hp1 NA18985.hp1 NA18994.hp2 NA19002.hp1 NA19056.hp1 NA19066.hp1 NA19068.hp1 NA19079.hp1 NA19083.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0008 others(1): Show a0001c0003 a0001c0004 a0001c0008 a0001c0009	a0001c0003t0002 a0001c0003t0025 a0001c0004t0001 others(6): Show a0001c0003t0002 a0001c0003t0025 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0004t0033 a0001c0008t0006 a0001c0009t0002 a0001c0009t0026	a0001c0003t0002g0001 a0001c0003t0002g0049 a0001c0003t0002g0052 others(19): Show a0001c0003t0002g0001 a0001c0003t0002g0049 a0001c0003t0002g0052 a0001c0003t0002g0259 a0001c0003t0002g0260 a0001c0003t0002g0265 a0001c0003t0002g0266 a0001c0003t0002g0267 a0001c0003t0002g0285 a0001c0003t0025g0262 a0001c0004t0001g0261 a0001c0004t0001g0284 a0001c0004t0003g0282 a0001c0004t0004g0077 a0001c0004t0004g0273 a0001c0004t0033g0247 a0001c0008t0006g0255 a0001c0008t0006g0263 a0001c0009t0002g0215 a0001c0009t0002g0216 a0001c0009t0002g0218 a0001c0009t0026g0217	27	385	0.0701	731	c.695 others(746): Show c.695-667_695-666insATGGGAAGGTGGGAAGGTGGGAGTGGTGGG AAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGA AGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAA GGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAATGTGGGAAG GTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGG TGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAATGT GGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTG GGAGTGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGG GAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGG GAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGGGAAGATGGGAAGGTGGG AAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGG AAGGTGGGAAGATGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGA AGGTGGGAGTGGTGGGAAGGTGGGAAGATGGGAAGATGGGAAGGTGGGAA GGTGGGAGTGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAGTGGTGGGA AGGTGGGAGTGGTGGGAAGGTGGGAAGATGGGAAGATAGGAAGGTGGGAA G	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(724): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAAATATATATCA TATATATTTATATATTGTATAAAAATATATATATCATATATATTTATATA TTATATAAAAATATATATATCATATATATTTATATATTATATAAAAATAT ATATATCATATATATTTATATATTATATAAAAATATATATATCATATATA TTTATATATTATATATTATATATTTATATTTTATTTTTATATTTATATTA TATATATATTTTTATATTTATATTTATATATTATTATATTATATTTATAT ATTATATAAAAATATATATCATATATATTTATATATTATATAAAAATATA TATCATATATATTTATATATTATATAAAAATATATATCATATATATTTAT ATATTATATAAAAATATATATCATATATATTTGTATATTATATAAAAATA TATATCATATATATTTATATATTATATAAAAATATATATCATATATATTT ATATATTATATAAAAATATATATCATATATATTTATATATTATATAAAAA TATATATCATATATATTTATATATTATATAAAAATATATATCATATATAT TTATATATTAAAAATATATATCATATATATTTATATATTATATAAAAATA TATATCATATATATTTATATATTAAAAATATATATCATATATATTTATAT ATTAAAAATATATATCATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0006 a0001c0003t0015g0006	1	58	0.0172	731	c.143 others(752): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTTATATATTGTATAAAAATATATATATCATATATATTTATATATTATAT AAAAATATATATATCATATATATTTATATATTATATAAAAATATATATAT CATATATATTTATATATTATATAAAAATATATATATCATATATATTTATA TATTATATATTATATATTTATATTTTATTTTTATATTTATATTATATATA TATTTTTATATTTATATTTATATATTATTATATTATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCAT ATATATTTATATATTATATAAAAATATATATCATATATATTTATATATTA TATAAAAATATATATCATATATATTTGTATATTATATAAAAATATATATC ATATATATTTATATATTATATAAAAATATATATCATATATATTTATATAT TATATAAAAATATATATCATATATATTTATATATTATATAAAAATATATA TCATATATATTTATATATTATATAAAAATATATATCATATATATTTATAT ATTAAAAATATATATCATATATATTTATATATTATATAAAAATATATATC ATATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAA AATATATATCATATATATTTATATATTAAAAATATATATCATATATATTT ATATATT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(724): Show CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCT CCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCC CTCTCCTACCCCCTCCCCCTTACCCTCCCCCTTCCCCCCCTCTGCCCTCC CCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTA TCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCC CCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCC CCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCTCCCGTCCCCCCTCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTTCCCCCTCC CCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCTCCTCTCCCC TCCCCTCTCCCCTCCCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0073 a0003c0009t0002g0073	1	10	0.1000	731	c.-25 others(750): Show c.-25-12108_-25-12107insCCCTCTCCCCTCCCCTCTCCCCTCCC CTTCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCC CCCTTCCCCCTCTCCTACCCCCTCCCCCTTACCCTCCCCCTTCCCCCCCT CTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCC CCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCT CCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCT CTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCC CTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCGTCCCCCCTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCT CCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCTCCCTTTCCTTCTCCCCTC CCCTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(724): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCT CCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTC TCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCC CTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCC TCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCC TCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCTCCCC TCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCT CTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTC CTCCCCTTCTCTTCCTCCTCCTCCCTTTCCTCCTCCTCCCCTTCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0035 a0001c0001t0007g0035	1	8	0.1250	731	c.424 others(748): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCT CCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCT CCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTC CCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCT CCTCCTCCCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTC TCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCT CTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCTTTCCTCCTCCTCCC CTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCTTTCCTCCTC CTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(724): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0163 a0001c0001t0020g0163	1	98	0.0102	731	c.41- others(748): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204100	T T	TATACTAT others(724): Show TATACTATTATATCATCATATGATGATATACTATTATATCATCATATGAT GATATGATACTATTATATCATCATATGATGATATGATACTATTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATATGATACTATATCATCATATG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0068 a0001c0001t0075g0068	1	141	0.0071	731	c.41- others(748): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATTATATCATCATATGATGA TATGATACTATTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATATGATATACTATATCATCATATGATGATATGATATACT ATATCATCATATGATGATATGATATACTATATCATCATATGATGATATGA TATACTATATCATCATATGATGATATGATATACTATATCATCATATGATG ATATGATATACTATATCATCATATGATGATATGATACTATATCATCATAT GAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204105	T T	TATTATAT others(724): Show TATTATATCATCATATGATGATATACTATTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATATGATACTATATCATCATATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT ATACTATATCATCATATGATATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATG	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0167 a0001c0001t0007g0167	1	125	0.0080	731	c.41- others(748): Show c.41-49392_41-49391insTATATCATCATATGATGATATACTATTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATATGATAC TATATCATCATATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATATACTATATCATCATATGATATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
UCKL1_chr20_63934829_63961416	63948575	G G	GGGGCGTG others(724): Show GGGGCGTGTGTGAGAGGGAGGGGATGTGTGTGAGAGGGAGGGGGCGTGTG TGAAAGGGAGGGGCGTGTGTGAGGGAGGGGTGTGTGTGAGAGGGAGGGGC GTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGGGGGGCGTGTGTGAGGGA GGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGT GAGAGGTAGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGGGAGGGGG CGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGG GAGGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGTAGGGGCGTG TGTGAGGGGGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAGGGAGGGG CGTGTGTGAGAGAGAGGGGCGTGTGTGAGGGAGGGGCGTGTGTGAGAGGG AGGGGCGTGTGTGTGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGT GAGAGGGAGGGGCGTGTGTGAGAGTGGGGGCGTGTGTGAGAGGGAGGGGG CGTGTGGGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGG GAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGAGAGGGAGGGGCGTGTGTG AGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGCAGGGGC GTGTGTGAGAGGGAGGGGGCGTGTGAGGGGGA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	338	0.0030	731	c.114 others(748): Show c.114-1933_114-1932insTCCCCCTCACACGCCCCCTCCCTCTCAC ACACGCCCCTGCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCTCC CTCTCACACACGCCCCTCCCTCTCACACGCCCCTCCCTCTCACACACGCC CCTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCCCA CACGCCCCCTCCCTCTCACACACGCCCCCACTCTCACACACGCCCCTCCC TCTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCACACACACGC CCCTCCCTCTCACACACGCCCCTCCCTCACACACGCCCCTCTCTCTCACA CACGCCCCTCCCTCTCACACACGCCCCCTCCCTCACACACGCCCCCCCCT CACACACGCCCCTACCTCTCACACACGCCCCCTCCCTCTCACACACGCCC CCTCCCTCACACACGCCCCCTCCCTCTCACACACGCCCCTCCCTCTCACA CACGCCCCCTCCCTCACACACGCCCCCTCCCTCTCACACACGCCCCTACC TCTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACGC CCCCTCCCTCACACACGCCCCCCCCTCTCACACACGCCCCTCCCTCTCAC ACACGCCCCTCCCTCTCACACACACCCCTCCCTCACACACGCCCCTCCCT TTCACACACGCCCCCTCCCTCTCACACACATCCCCTCCCTCTCACACACG CCC	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	1/14			chr20	TogoVar
ZNF627_chr19_11592483_11624161	11613137	C C	CCCTTCCC others(724): Show CCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCC CCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCC CTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCCCCC CTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCCCCTT CCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCCCTCC CCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCCTC CTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCCT CCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCTCCCTTCCCTCCTTCCT CCCCTCCCCCTCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCC TCCCCGTCCCCTCCTCCTCCCCCTCCCCTCCCCCTCCCCCTCCTCCCTTC CCCTCCTCCCTCCCCTCCCCTCTCCCCTCCCCCTCTCCTCCCCCTCCTCT TCCCCTCTCCTCCCCTCCCCCTCCCCCTCCTCCCCTCTCCCCTCCCCTCC CCTTCCCTTCCCCTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTC CCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCT CCTCCCCTCACCTGTCCCTCCCCTCTCCCCTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	270	0.0037	731	c.4-1 others(744): Show c.4-1388_4-1387insTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCC CCTCCCCTCCTTCCCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTC CCCCCTCCCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCT CCTCCTCCCTCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCC CTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCC TCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTC CCCTCCCCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTC CCTCCCCTCCCCCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCTC CCTTCCCTCCTTCCTCCCCTCCCCCTCCCCTACCCTCCTCCCTCCCCTTC CCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCCCCTCCCCCT CCCCCTCCTCCCTTCCCCTCCTCCCTCCCCTCCCCTCTCCCCTCCCCCTC TCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCTCCCCCTCCTCCCC TCTCCCCTCCCCTCCCCTTCCCTTCCCCTCTCCTCCCCTCCTCCCTCCCC TCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCAC CTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1049875	C C	CCCCCCGG others(725): Show CCCCCCGGACCACTCCCTCCCTGTGAGTTCCCCCACCACTCCCTCCCTGT GAACCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCC GTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCCCCCACCACTCCCTCCC CGTGAGCCCCCCCGGACCACTCCCTCCCTGTGAGTTCCCCCACCACTCCC TCCCTGTGAACCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTC CCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTTTGAGCCCCCCCACCAC TCCCTCCCTGTGAGACCCCCCGGACCACTCCCTCCCTGTGAGTTCCCCCA CCACTCCCTCCCTGTGAGTTCCCCCACCACTCCCTCCCTGTGAACCCCCC ACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCCCGTGAGGCCCC CCACCACTCCCTCCCCGTGAGCCCCCCGACCACTCCCTCCCCGTGAGGCC CCCCACCACTCCCTCCCTGTGAGCCCCCCGACCACTCCCTCCCTTTGAGC CCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGGACCACTCCCTCCCTGT GAGTTCCCCCACCACTCCCTCCCTGTGAGTTCCCCCACCACTCCCTCCCT GTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCCCTCCC CGTGAGGCCCCCCACCACTCCCTCCCTGTGAGT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	26	0.0385	732	c.255 others(749): Show c.2552+443_2552+444insGGACCACTCCCTCCCTGTGAGTTCCCCC ACCACTCCCTCCCTGTGAACCCCCCCACCACTCCCTCCCCGTGAGGCCCC CCACCACTCCCTCCCCGTGAGCCCCCCCACCACTCCCTCCCCGTGAGCCC CCCACCACTCCCTCCCCGTGAGCCCCCCCGGACCACTCCCTCCCTGTGAG TTCCCCCACCACTCCCTCCCTGTGAACCCCCCCACCACTCCCTCCCCGTG AGGCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTT TGAGCCCCCCCACCACTCCCTCCCTGTGAGACCCCCCGGACCACTCCCTC CCTGTGAGTTCCCCCACCACTCCCTCCCTGTGAGTTCCCCCACCACTCCC TCCCTGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCCCCCACCACTCC CTCCCCGTGAGGCCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCACT CCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCGACCA CTCCCTCCCTTTGAGCCCCCCCACCACTCCCTCCCTGTGAGCCCCCCCGG ACCACTCCCTCCCTGTGAGTTCCCCCACCACTCCCTCCCTGTGAGTTCCC CCACCACTCCCTCCCTGTGAACCCCCCACCACTCCCTCCCTGTGAGCCCC CCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCTGTGAGTC CCCC	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975506	G G	GATAAATA others(725): Show GATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATA TAAATATATAAATATTTATATATTTATAGATAAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGA TAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATATAAATATTTTTATATTTATAGATAAATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0002 a0005c0011t0002	a0005c0011t0002g0157 a0005c0011t0002g0157	1	253	0.0040	732	c.130 others(751): Show c.1308+1070_1308+1071insATATTTATCTATAAATATAAAAATAT TTATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTAT ATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAA AAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCT ATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTAT ATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAA AAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCT ATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTAT ATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAA AAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCT ATAAATATAAAAATATTTATATATTTATCTATAAATATATAAATATTTAT ATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTT ATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATAT ATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ADCY1_chr7_45569368_45728116	45610760	A A	AGAGGTGA others(725): Show AGAGGTGATGGTGAAGGTGAGGAGGTGATGATGGAGGGGGTGGAGGTGAT GGTGGAGGTGATGGCGGAGGTGAAGGGGTGATGATGGAGATGAGGTGATG GTGGAGGTGAAGGGGTGATGGTGGAGGTGGGGAGGTGATGGTGGAGGTGA AAGGGTGATTTGATGGAGGTGTGGAGGTGATGGTGGAAGCGTGGAGGTGA TAGTGGAGGTGTGGAGGTGAAGGGGTGATGGTGAAGTGTGGAGGTGATGG TGGAGGTGAGGAGGTGATGGTGGAAGTGTGGAGGTGATGGTGAGGTGGGG AGGTGATGGTGGAGGTTAGGAGGTGATGGTGGATATGGGGAGGTGATGGT GGATGTGTGGGGGTGATAGTGAAGGTGAGGAGGTGATAGTGGAAATGTGG AGGTTATGGTAGAGGTGGGGAGGTGATGGTGGAGGTGGGAGGTGATGGTG GAGGGGGGAGGTGATGGTGGAGGTTAGGAAGTGATGGTGGAGGTGAGGAG GTGATGGTGGAGGTGAGGAGGTGATGGAGGTGGGAAGGTGATGGTGGAGG CGGGGAGGTGATAGTGGAAGTATGGAGGTGACATTGGAGGTGAGGAGGTG ATAGTGGAGCTGTTGAGGTGATGGTGGAGGTGTGGAGGTGATGGTGGAGG TGGGAGGTGATAGTGGAAGTGTGGAGGTGATGGTGGAGGTGTGGAGGTGA TGGCGGAGTTGGAGAAGTGATGATGGAAGTGAG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	251	0.0040	732	c.908 others(747): Show c.908+271_908+272insGGTGAAGGTGAGGAGGTGATGATGGAGGGG GTGGAGGTGATGGTGGAGGTGATGGCGGAGGTGAAGGGGTGATGATGGAG ATGAGGTGATGGTGGAGGTGAAGGGGTGATGGTGGAGGTGGGGAGGTGAT GGTGGAGGTGAAAGGGTGATTTGATGGAGGTGTGGAGGTGATGGTGGAAG CGTGGAGGTGATAGTGGAGGTGTGGAGGTGAAGGGGTGATGGTGAAGTGT GGAGGTGATGGTGGAGGTGAGGAGGTGATGGTGGAAGTGTGGAGGTGATG GTGAGGTGGGGAGGTGATGGTGGAGGTTAGGAGGTGATGGTGGATATGGG GAGGTGATGGTGGATGTGTGGGGGTGATAGTGAAGGTGAGGAGGTGATAG TGGAAATGTGGAGGTTATGGTAGAGGTGGGGAGGTGATGGTGGAGGTGGG AGGTGATGGTGGAGGGGGGAGGTGATGGTGGAGGTTAGGAAGTGATGGTG GAGGTGAGGAGGTGATGGTGGAGGTGAGGAGGTGATGGAGGTGGGAAGGT GATGGTGGAGGCGGGGAGGTGATAGTGGAAGTATGGAGGTGACATTGGAG GTGAGGAGGTGATAGTGGAGCTGTTGAGGTGATGGTGGAGGTGTGGAGGT GATGGTGGAGGTGGGAGGTGATAGTGGAAGTGTGGAGGTGATGGTGGAGG TGTGGAGGTGATGGCGGAGTTGGAGAAGTGATGATGGAAGTGAGGAGGTG AT	ADCY1	ENSG00000164742.16	transcript	ENST00000297323.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
AK3_chr9_4704556_4746202	4713900	C C	CTACACAT others(725): Show CTACACATATACACCTCCACATATACACACCTCCACATACACACCTCCAC ATATACACACCTCCACATATACACGCCTCCACATATACACGCCTCCACAT ATACACACCTACACATATACACCTACACATATACACGCCTACACATATAC ACGCCTACACATACACGCCTACACGTATACGCCTACACGTATACACCTAC ACGTATACACCTCCACATATACACACCTCCACATATACACACCTCCACAT ATACACACCTCCACATATACACCTACACATATACACACCTACACATATAC ACACCTACACATATACACCTACACATATACACACCTCCACATATACACCT ACACATACACACCTACACATATACACCTCCACATATACACACCTACACAT ATACACCTCCACATACACACACCTCCACATATACACACCTACACATACGC CTACACATATACGCCTACACATATACGCCTACACATATACGCCTACACAT ATACGCCTACACATATACGCCTACACATATACGCCTACACATATACGCCT CCACATATACACACCTCCACATATACACACCTCCACATATATGCCTACAC ATATACGCCTACACATATACGCCTACACATATACACACCTCCACATATAC ACACCTCCACACCTCCACATATACACACCTCCACATATACACACCTCCAC ATATACACACCTCCACATATACGCCTACACATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0098 a0001c0001t0066g0098	1	158	0.0063	732	c.564 others(747): Show c.564-805_564-804insTATGTGTAGGCGTATATGTGGAGGTGTGTA TATGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTGGAGGTGTGGAGG TGTGTATATGTGGAGGTGTGTATATGTGTAGGCGTATATGTGTAGGCGTA TATGTGTAGGCATATATGTGGAGGTGTGTATATGTGGAGGTGTGTATATG TGGAGGCGTATATGTGTAGGCGTATATGTGTAGGCGTATATGTGTAGGCG TATATGTGTAGGCGTATATGTGTAGGCGTATATGTGTAGGCGTATATGTG TAGGCGTATGTGTAGGTGTGTATATGTGGAGGTGTGTGTATGTGGAGGTG TATATGTGTAGGTGTGTATATGTGGAGGTGTATATGTGTAGGTGTGTATG TGTAGGTGTATATGTGGAGGTGTGTATATGTGTAGGTGTATATGTGTAGG TGTGTATATGTGTAGGTGTGTATATGTGTAGGTGTATATGTGGAGGTGTG TATATGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTGGAGGTGTATA CGTGTAGGTGTATACGTGTAGGCGTATACGTGTAGGCGTGTATGTGTAGG CGTGTATATGTGTAGGCGTGTATATGTGTAGGTGTATATGTGTAGGTGTG TATATGTGGAGGCGTGTATATGTGGAGGCGTGTATATGTGGAGGTGTGTA TATGTGGAGGTGTGTATGTGGAGGTGTGTATATGTGGAGGTGTATATGTG TA	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	4/4			chr9	TogoVar
ALMS1_chr2_73380836_73614916	73561672	A A	ATAATAGC others(725): Show ATAATAGCTGTTTTATATATTATGGTGTTAAAAATTTTAATTAAATATTT TATATTCAAAATGAATCTTTATTTCTAGGATTTTTATGGTAATTACCCAC ATCACAATAACAATATTTACTACAGTTTTCATTGCAAAGGTCCTGTATTT CAGTTAGACAATTAGTTAGATAGACGTTTGTGGATGGCATAAAGACAATT ATCACATGTAATATTATATGTATAAAATTATATCTCAAATGCCACCAGTC AATTTACCAGCATAATTTTGGAACATAAAACATTTTTAAGTTGGAAGGCC ATCTGGATGCTATTATTAAAACTATGTTCCTAAGAGTAGGAGTAAAGAAT TATGTGGATAAATTATTCCATTAGTAAATCTGATAGGCTGAGTTCCAAAT ATGTACAAACTACTGATGCTTCAGTTTTCAGAATAATTGCACTCAAGTGA AAACTTTTATTGTCGTGGAGGAAATATTGAGTATTCTTTCTTTTGATGTG ATACAAAAAATGGTCCTATACTTTCTTTTTCCTTTTATTATTTTTACCAA GCAACTTTATAAATGTAGCATTTTACCAAGATGACACTCAGGAGAAAAAG ACAGACATTTGTAATAGGGAAAAGGGATGTGGCATAGGTAGCTAACAGGA CACCAAAATGTGTACTCCTTCTTCCATTGTATTGGATTGTTTCTGGGGAG TGCCTGGCCAGTCATCGACTGTTCTGACTAGAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02486.hp2 others(11): Show HG01891.hp2 HG02257.hp1 HG02486.hp2 HG02559.hp2 HG02630.hp2 HG02717.hp1 HG02965.hp1 HG03041.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG06807.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0021 a0001c0025 others(3): Show a0001c0004 a0001c0021 a0001c0025 a0001c0039 a0001c0047 a0001c0049	a0001c0004t0001 a0001c0021t0001 a0001c0025t0001 others(3): Show a0001c0004t0001 a0001c0021t0001 a0001c0025t0001 a0001c0039t0001 a0001c0047t0001 a0001c0049t0001	a0001c0004t0001g0005 a0001c0004t0001g0036 a0001c0004t0001g0038 others(11): Show a0001c0004t0001g0005 a0001c0004t0001g0036 a0001c0004t0001g0038 a0001c0004t0001g0039 a0001c0004t0001g0040 a0001c0004t0001g0043 a0001c0004t0001g0049 a0001c0021t0001g0034 a0001c0021t0001g0035 a0001c0025t0001g0048 a0001c0025t0001g0054 a0001c0039t0001g0037 a0001c0047t0001g0047 a0001c0049t0001g0042	14	246	0.0569	732	c.103 others(753): Show c.10384+2530_10384+2531insTAATAGCTGTTTTATATATTATGG TGTTAAAAATTTTAATTAAATATTTTATATTCAAAATGAATCTTTATTTC TAGGATTTTTATGGTAATTACCCACATCACAATAACAATATTTACTACAG TTTTCATTGCAAAGGTCCTGTATTTCAGTTAGACAATTAGTTAGATAGAC GTTTGTGGATGGCATAAAGACAATTATCACATGTAATATTATATGTATAA AATTATATCTCAAATGCCACCAGTCAATTTACCAGCATAATTTTGGAACA TAAAACATTTTTAAGTTGGAAGGCCATCTGGATGCTATTATTAAAACTAT GTTCCTAAGAGTAGGAGTAAAGAATTATGTGGATAAATTATTCCATTAGT AAATCTGATAGGCTGAGTTCCAAATATGTACAAACTACTGATGCTTCAGT TTTCAGAATAATTGCACTCAAGTGAAAACTTTTATTGTCGTGGAGGAAAT ATTGAGTATTCTTTCTTTTGATGTGATACAAAAAATGGTCCTATACTTTC TTTTTCCTTTTATTATTTTTACCAAGCAACTTTATAAATGTAGCATTTTA CCAAGATGACACTCAGGAGAAAAAGACAGACATTTGTAATAGGGAAAAGG GATGTGGCATAGGTAGCTAACAGGACACCAAAATGTGTACTCCTTCTTCC ATTGTATTGGATTGTTTCTGGGGAGTGCCTGGCCAGTCATCGACTGTTCT GACTAGAT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	15/22			chr2	TogoVar
ANKRD11_chr16_89262630_89495561	89398253	A A	ACTGTGAA others(725): Show ACTGTGAAACAGGTGAAGATTACCTGTGACCTCAGCACTCTGGGAGGCTG ACATGAGGGACGCTGTGAAACAGATGAAGACTACCTGTGACCTCAGCACT CTGGGAGGCTGACATGAGGGACACTGTGAAACAGGTGAAGATTACCTGTG ACCTCAGCACTCTGGGAGGCTGACATGAGGGACACTGTGAAACAGCTGAA GATTACCTGTGACCTCAGCACTCTGGGAGGCTGACATGAGGGACACTGTG AAACAGGTGAAGATTACCTGTGACCTCAGCACTCTGGGAGGCTGACATGA GGGACACTGTGAAACAGCTGAAGATTACCTGTGACCTCAGCACTCTGGGA GGCTGACATGAGGGACACTGTGAAACAGGTGAAGATTACCTGTGACCTCA GCACTCTGGGAGGCTGACATGAGGGACGCTGTGAAACAGGTGAAGATTAC CTGTGACCTCAGCACTCTGGGAGGCTGACATGAGGGACACTGTGAAACAG GTGAAGATTACCTGTGACCTCAGCACTCTGGAAGGCTGACATGAGGGACA CTGTGAAACAGCTGAAGATTACCTGTGACCTCAGCACTCTGGGAGGCTGA CATGAGGGACACTGTGAAACAGGTGAAGATTACCTGTGACCTCAGCACTC TGGGAGGCTGACATGAGGGACACTGTGAAACAGGTGAAGATTACCTGTGA CCTCAGCACTCTGGGAGGCTGACATGAGGGACG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03579.hp2 HG02258.hp1 HG03579.hp2	a0001 a0011 a0001 a0011	a0001c0022 a0011c0057 a0001c0022 a0011c0057	a0001c0022t0001 a0011c0057t0001 a0001c0022t0001 a0011c0057t0001	a0001c0022t0001g0125 a0011c0057t0001g0124 a0001c0022t0001g0125 a0011c0057t0001g0124	2	303	0.0066	732	c.-60 others(751): Show c.-60+20030_-60+20031insCGTCCCTCATGTCAGCCTCCCAGAGT GCTGAGGTCACAGGTAATCTTCACCTGTTTCACAGTGTCCCTCATGTCAG CCTCCCAGAGTGCTGAGGTCACAGGTAATCTTCACCTGTTTCACAGTGTC CCTCATGTCAGCCTCCCAGAGTGCTGAGGTCACAGGTAATCTTCAGCTGT TTCACAGTGTCCCTCATGTCAGCCTTCCAGAGTGCTGAGGTCACAGGTAA TCTTCACCTGTTTCACAGTGTCCCTCATGTCAGCCTCCCAGAGTGCTGAG GTCACAGGTAATCTTCACCTGTTTCACAGCGTCCCTCATGTCAGCCTCCC AGAGTGCTGAGGTCACAGGTAATCTTCACCTGTTTCACAGTGTCCCTCAT GTCAGCCTCCCAGAGTGCTGAGGTCACAGGTAATCTTCAGCTGTTTCACA GTGTCCCTCATGTCAGCCTCCCAGAGTGCTGAGGTCACAGGTAATCTTCA CCTGTTTCACAGTGTCCCTCATGTCAGCCTCCCAGAGTGCTGAGGTCACA GGTAATCTTCAGCTGTTTCACAGTGTCCCTCATGTCAGCCTCCCAGAGTG CTGAGGTCACAGGTAATCTTCACCTGTTTCACAGTGTCCCTCATGTCAGC CTCCCAGAGTGCTGAGGTCACAGGTAGTCTTCATCTGTTTCACAGCGTCC CTCATGTCAGCCTCCCAGAGTGCTGAGGTCACAGGTAATCTTCACCTGTT TCACAG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANO2_chr12_5557655_5950259	5931519	C C	CAGACTAG others(725): Show CAGACTAGTAAGGAAGGAAGACTGGTAAGAAAGCGACTAATAAGGAAAGA AGGCAGACCAGTAAGGAAAGAAGGTAGACTAGTAAGGAAGGAAGACTGGT AAGAAAGTGACTAATAAGGAAAGAAGGCAGACGAGTGAGGAAAGAAGATA GACTAGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAG GTAGACGAGTGAGGAAAGAAGGTAGACTAGTAAGGAAGGAAGACTGGTAA GAAAGTGACTAATAAGGAAAGAAGGTAGACGAGTGAGGAAAGAAGATAGA CTAGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGC AGACGAGTGAGGAAAGAAGATAGACTAGTAAGGAAGGAAGACTGGTAAGA AAGTGACTAATAAGGAAAGAAGGTAGACGAGTGAGGAAAGAAGATAGACT AGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGCAG ACGAGTAAGGAAAGAAGACAGAAAAGGAAGGAAGACTGGTAAGAAAGTGA CTAATAAGGAAAGAAGGTAGACGAGTGAGGAAAGAAGGTAGACTAGTAAG GAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGCAGACGAGT AAGGAAAGAAGACAGAAAAGGAAGGAAGACTGGTAAGAAAGTGACTAATA AGGAAAGAAGGTAGACGAGTGAGGAAAGAAGGT	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA20805.hp2 HG02273.hp1 NA20805.hp2	a0003 a0003	a0003c0004 a0003c0011 a0003c0004 a0003c0011	a0003c0004t0002 a0003c0011t0001 a0003c0004t0002 a0003c0011t0001	a0003c0004t0002g0150 a0003c0011t0001g0072 a0003c0004t0002g0150 a0003c0011t0001g0072	2	89	0.0225	732	c.23- others(747): Show c.23-8716_23-8715insACCTTCTTTCCTCACTCGTCTACCTTCTTT CCTTATTAGTCACTTTCTTACCAGTCTTCCTTCCTTTTCTGTCTTCTTTC CTTACTCGTCTGCCTTCTTTCCTTATTAGTCACTTTCTTACCAGTCTTCC TTCCTTACTAGTCTACCTTCTTTCCTCACTCGTCTACCTTCTTTCCTTAT TAGTCACTTTCTTACCAGTCTTCCTTCCTTTTCTGTCTTCTTTCCTTACT CGTCTGCCTTCTTTCCTTATTAGTCACTTTCTTACCAGTCTTCCTTCCTT ACTAGTCTATCTTCTTTCCTCACTCGTCTACCTTCTTTCCTTATTAGTCA CTTTCTTACCAGTCTTCCTTCCTTACTAGTCTATCTTCTTTCCTCACTCG TCTGCCTTCTTTCCTTATTAGTCACTTTCTTACCAGTCTTCCTTCCTTAC TAGTCTATCTTCTTTCCTCACTCGTCTACCTTCTTTCCTTATTAGTCACT TTCTTACCAGTCTTCCTTCCTTACTAGTCTACCTTCTTTCCTCACTCGTC TACCTTCTTTCCTTATTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTA GTCTATCTTCTTTCCTCACTCGTCTGCCTTCTTTCCTTATTAGTCACTTT CTTACCAGTCTTCCTTCCTTACTAGTCTACCTTCTTTCCTTACTGGTCTG CCTTCTTTCCTTATTAGTCGCTTTCTTACCAGTCTTCCTTCCTTACTAGT CT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5931572	C C	CAGACCAG others(725): Show CAGACCAGTAAGGAAAGAAGGTAGACTAGTAAGGAAGGAAGACTGGTAAG AAAGTGACTAATAAGGAAAGAAGGCAGACGAGTGAGGAAAGAAGATAGAC TAGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGTA GACGAGTGAGGAAAGAAGGTAGACTAGTAAGGAAGGAAGACTGGTAAGAA AGTGACTAATAAGGAAAGAAGGTAGACGAGTGAGGAAAGAAGATAGACTA GTAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGCAGA CGAGTGAGGAAAGAAGATAGACTAGTAAGGAAGGAAGACTGGTAAGAAAG TGACTAATAAGGAAAGAAGGTAGACGAGTGAGGAAAGAAGATAGACTAGT AAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGCAGACG AGTAAGGAAAGAAGACAGAAAAGGAAGGAAGACTGGTAAGAAAGTGACTA ATAAGGAAAGAAGGTAGACGAGTGAGGAAAGAAGGTAGACTAGTAAGGAA GGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGCAGACGAGTAAG GAAAGAAGACAGAAAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGG AAAGAAGGTAGACGAGTGAGGAAAGAAGGTAGACTAGTAAGGAAGGAAGA CTGGTAAGAAAGTGACTAATAAGGAAAGAAGGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02257.hp2 others(6): Show HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02572.hp1 HG02615.hp1 HG02717.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0016 a0002c0003 others(2): Show a0001c0001 a0001c0016 a0002c0003 a0002c0006 a0014c0021	a0001c0001t0001 a0001c0001t0002 a0001c0016t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0016t0002 a0002c0003t0002 a0002c0006t0002 a0014c0021t0002	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0002g0152 others(6): Show a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0002g0152 a0001c0001t0002g0159 a0001c0016t0002g0157 a0002c0003t0002g0158 a0002c0003t0002g0160 a0002c0006t0002g0154 a0014c0021t0002g0153	9	147	0.0612	732	c.23- others(747): Show c.23-8769_23-8768insACCTTCTTTCCTTATTAGTCACTTTCTTAC CAGTCTTCCTTCCTTACTAGTCTACCTTCTTTCCTCACTCGTCTACCTTC TTTCCTTATTAGTCACTTTCTTACCAGTCTTCCTTCCTTTTCTGTCTTCT TTCCTTACTCGTCTGCCTTCTTTCCTTATTAGTCACTTTCTTACCAGTCT TCCTTCCTTACTAGTCTACCTTCTTTCCTCACTCGTCTACCTTCTTTCCT TATTAGTCACTTTCTTACCAGTCTTCCTTCCTTTTCTGTCTTCTTTCCTT ACTCGTCTGCCTTCTTTCCTTATTAGTCACTTTCTTACCAGTCTTCCTTC CTTACTAGTCTATCTTCTTTCCTCACTCGTCTACCTTCTTTCCTTATTAG TCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTATCTTCTTTCCTCAC TCGTCTGCCTTCTTTCCTTATTAGTCACTTTCTTACCAGTCTTCCTTCCT TACTAGTCTATCTTCTTTCCTCACTCGTCTACCTTCTTTCCTTATTAGTC ACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTACCTTCTTTCCTCACTC GTCTACCTTCTTTCCTTATTAGTCACTTTCTTACCAGTCTTCCTTCCTTA CTAGTCTATCTTCTTTCCTCACTCGTCTGCCTTCTTTCCTTATTAGTCAC TTTCTTACCAGTCTTCCTTCCTTACTAGTCTACCTTCTTTCCTTACTGGT CT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGAAG others(725): Show GAAGGAAGGGGAAGGGGAAGGGAAGGGAAGGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAG GGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAA GGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAA GGAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAAAGGAAGGGAGGGA AGGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAAGGGG AAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGGAAG GGAAGGGAAAGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGAAGG GGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAG GGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAAG GAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTTGAAGGGGTAGCAAAG GGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAA GGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGAGGGGAAGAG AGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	5	0.2000	732	c.927 others(749): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCCT CCCCTCTCTTCCCCTCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCCGTC CTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCTTTC TTTCCCTTTGCTACCCCTTCAACTTCCCCCTCCCCTTCCCTTCCCCTTCC TTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTCTCC TTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTCCC CTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCTTTCC CTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTT CCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTT CCCCTTCCCTCCCTTCCTTTTCCCCTTCCCTTCCCTTCCCTTCCCCTTCC CTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCC CTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCC CTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCCTTCCCTTCCCTTCCCCTTCCCCTT CCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(725): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGA AGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAA GGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAA GGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAAGGAA GGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGAAG GGGAAGGGAAGGGAAGGGAATGGGACAAGGAAGGGGAAGGGAAAAGGAAG GGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGG AAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGAAGGGGAAGGG AAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGGGAAAGGAGAGGG GAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAAGGAAAAGGAAGGGG AAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGGAAAGAAAGGAAA GGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAAGGAAGGACGGATGG ACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGAGGGGAGGGGAGG GAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0070 a0002c0004t0002g0070	1	5	0.2000	732	c.927 others(749): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTC TCTTCCCTCCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTG TCCGTCCATCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTT TTCCCTTTCCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTT CCCTTCCCCTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTC CCTTCCCCTCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTC CCCTTCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTT CCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCC TTCCCCTTCCTTTTCCCTTCCCCTTCCTTGTCCCATTCCCTTCCCTTCCC TTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCC TTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCC TTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCT TTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTT TCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCTTCCCTTCCCCTTC CCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP39_chr8_144524179_144690846	144531174	T T	TGAAGGGC others(725): Show TGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACT GGACACAGCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGG CTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCA GGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAG GGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGT GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	240	0.0042	732	c.298 others(749): Show c.2981-304_2981-303insTGCCGTGCCTGCTATGTCTAGCCCACTC CCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCT GCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCT GCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCT TTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGC CCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCC CCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATG TCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTG TGTCCAGTCCACACCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCG TGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCC CTTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(725): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGG GGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGG GAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAA GGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGG GGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGG GAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGG AGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAG GAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGCAGTGGGAGGAGGA AGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAG GGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG02273.hp2 HG01993.hp1 HG02273.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	2	9	0.2222	732	c.-70 others(741): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAG GGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGG GGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGG AAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAA GGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAA GGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGG GGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGC AGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAG TGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
C4orf50_chr4_5954375_6023431	6004363	A A	ATGGTGAC others(725): Show ATGGTGACTGTGATGGTGATGGTGATGATGGTGATGGTGATGGTGATGAT GGTGATGATGGTGATGGTGATGATGTGATGGTGATGTTGATGATGGTGGT GATGGTGATGATGTGATGGCGATGATAGTGATGATGGTGGTGATGGTGAT GATGTGATGGTGATGATGTGATAGTGATGATGGTGATGATGCTGATGGTG ATGATGGTGATAGTGATGATGGTGATGGTGATGATGGTGATGATGGTGAT GGTGATTATGGTGATGATGGGATGGTGATGTTGATGATGGTGGTGATGGT GATGATGTGATGGCGATGATAGTGATGATGGTGATGATGGTGATGGTGAT GATGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGATGGTGAT GGTGATGATGGTGATGGTGATGGTGATGATAGTGATGATGGTGATGATGG TGATGGTGATGATGGTGATGGTGATGATGGTGATGATGGTGATGATGGTG ACGGTGATGATGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGATGTTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGATGTG ATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGATGGTGAT GATGGTGATGGTGATGATGGTGATGATGTTGATGATGGTGATGATGGTGA TGATGGTGATGGTGATGATAGTGATGATGGTGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02896.hp1 others(5): Show HG02109.hp1 HG02280.hp1 HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp2	a0019 a0035 a0074 others(1): Show a0019 a0035 a0074 a0088	a0019c0020 a0035c0037 a0074c0071 others(1): Show a0019c0020 a0035c0037 a0074c0071 a0088c0105	a0019c0020t0001 a0035c0037t0001 a0074c0071t0001 others(1): Show a0019c0020t0001 a0035c0037t0001 a0074c0071t0001 a0088c0105t0001	a0019c0020t0001g0001 a0019c0020t0001g0060 a0019c0020t0001g0061 others(4): Show a0019c0020t0001g0001 a0019c0020t0001g0060 a0019c0020t0001g0061 a0035c0037t0001g0292 a0035c0037t0001g0293 a0074c0071t0001g0035 a0088c0105t0001g0020	8	325	0.0246	732	c.963 others(749): Show c.963+3632_963+3633insCCACCATCATCACTATCATCACCATCAC CATCATCACCATCATCACCATCATCAACATCATCACCATCATCACCATCA CCATCATCACCATCACCATCATCACCATCATCACCATCATCAACATCATC ACCATCACATCATCACCATCATCACCATCACCATCATCACCATCATCAAC ATCATCACCATCACCATCATCACCATCACCATCATCACCATCACATCATC ACCGTCACCATCATCACCATCATCACCATCATCACCATCACCATCATCAC CATCACCATCATCACCATCATCACTATCATCACCATCACCATCACCATCA TCACCATCACCATCATCACCATCATCACCATCATCACTATCATCACCATC ACATCATCACCATCACCATCATCACCATCATCACTATCATCGCCATCACA TCATCACCATCACCACCATCATCAACATCACCATCCCATCATCACCATAA TCACCATCACCATCATCACCATCATCACCATCACCATCATCACTATCACC ATCATCACCATCAGCATCATCACCATCATCACTATCACATCATCACCATC ACATCATCACCATCACCACCATCATCACTATCATCGCCATCACATCATCA CCATCACCACCATCATCAACATCACCATCACATCATCACCATCACCATCA TCACCATCATCACCATCACCATCACCATCATCACCATCACCATCACAGTC ACCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C8orf82_chr8_144520733_144534111	144531174	T T	TGAAGGGC others(725): Show TGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACT GGACACAGCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGG CTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCA GGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAG GGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGT GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	389	0.0026	732	c.-22 others(743): Show c.-2259_-2258insTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATG TCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTG CCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCG TGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGC TGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTG CCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCC TGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCT GCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCAC CTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCC ACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGC CCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTGTGTCCA GTCCACACCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2064		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(725): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAG CAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGG GCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGT GGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAG CAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAG GGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGA AGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGG CACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGA CATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	235	0.0043	732	c.-22 others(743): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGC TGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGC CGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTG CCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(725): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGG GCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGT GGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAG CAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAG GGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGA AGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGG CACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGA CATAGCAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	235	0.0043	732	c.-22 others(743): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCG TGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGC CGTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGCCCTGTG CCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(725): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCATCACCATCACCAC CACCACCATCACCACCAGCACCACCAGCACCACCACCATCAACATCATCA TCATCACCACCATCACCACCATCATCACCACCACCGTCATCACCACCAGC ACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCATCACC ATCACCATCACCACCATCTCACCATCACCATCACCACCATCATCACCACC ACCATCTCACCATCACCATCACCACCATCATCACCACCACCACCACCACC ACCACCACCATCATCACCATCACCACCAGCACCACCACCATCACCATCAC CATCACCACCATCATCATCACCACCACCACCACCACCACCACCACCATCA TCACCATCACCACCAGCACCACCACCATCACCACCACCATCACCACCACC ACCACCACCATCATCACCATCACCACCAGCACCACCACCAACATCATCAT CATCACCACCACCACCACCATCACCACCACCACCACCATCAACACCACCA TCATCATCACCACCACCACCATCACCACCATCT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18747.hp1 NA19004.hp1 others(2): Show HG00609.hp2 NA18747.hp1 NA19004.hp1 NA19009.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0194 a0001c0001t0002g0012 a0001c0001t0002g0194	5	155	0.0323	732	c.63+ others(745): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGCTGGTGGTGATGGTG ATGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGATGATGGTGGTGAT GGTGATGGTGATGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGG TGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGA TGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGGTGGTGATGGTGG TGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTGATGGTGGTGATG ATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGTGGT GGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGA TGGTGAGATGGTGGTGATGGTGGTGATGGTGATGATGATGGTGGTGGTGA TGGTGAGATGGTGGTGATGGTGGTGGTGGTGGTTATGGTGGTGGTGGTGG TGATGATGGTGATGATGATGGTGTTGATGATGGTGATGATGATGGTGGTG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185647	G G	GGCATGTG others(725): Show GGCATGTGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGAC GGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTA GGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTG CATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTA GGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTG CGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTG CATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGG CGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG CGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGG CCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGG CCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	326	0.0031	732	c.300 others(749): Show c.300-9324_300-9323insCATGTGTAGGGGCCGGAGGCGTGGTGTG TACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGG GTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTATGGG GCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAG GTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGA GTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGA GTAG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185649	T T	TCAGCGTG others(725): Show TCAGCGTGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGA CGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGC GTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCATGT GTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAG GGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGTGTAG GGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGC GTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTAG GGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCATGTGTAG GGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCATGTGTAG GGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCATGTGTAG GGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGC CGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCATGCATAGGGCC GGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0008 a0008	a0008c0005 a0008c0005	a0008c0005t0008 a0008c0005t0008	a0008c0005t0008g0273 a0008c0005t0008g0273	1	308	0.0032	732	c.300 others(749): Show c.300-9322_300-9321insAGCGTGCATAGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGG GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGG TGAGTAGACGGCGTGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGG CGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAG TAGACGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGT AGAC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMTA1_chr1_6780454_7774706	6940912	A A	AGGGGGTC others(725): Show AGGGGGTCCTCACAGGGAGGGGGGTCCTCAGAGGGAGAGGGATCCTCCCG GGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCAGGGGGAAGGGGGATC CTCATGGGGAGGGGGATCCTCAGGGGGAGGGGAGATCCTCATGAGGAGGG GGGATCCTCACGGGGAGGGGGGGATCCTCCTCACAGGGAGGTGGATCCTC ACGGGGAAGGGATCCTCAGGGGGAGGGGGATCCTCACAGGGAGGGGATCC TCGGGAAGGTGGATCCTCACGGGGAGGAGGATCCTCACGGGGAGGGGGAT CCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGGGATCCTCACGGGGAGG GGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGGGGATCCTCAGGG GGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCA GGGGGAGGTGGATCCTCAGGGGGAGGTGGATCCTCACGGGGAGGGGATCC TCAGGCGGAGGGGGATCCTCCTCAGGGGGAGGGGGGATCCTCACGGGGAA GGGGGATCCTCACAGGGAGGCGGGTCCTCACGGGGAGGGGGATCCTCACG GGGAGGGGGATCCTCATGGGGAGAGGGATCCTCACGGGGAGGGGGATCCT CAGAGGGAGGGGGGATCCTTGGGGGGAGGGGGATCCTCACAGGGTGGGGG GATCCTCACAGGGAGGGGGATCCTCACAGGGAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0014 a0005c0007t0014	a0005c0007t0014g0018 a0005c0007t0014g0018	1	5	0.2000	732	c.234 others(753): Show c.234+115706_234+115707insGTCCTCACAGGGAGGGGGGTCCTC AGAGGGAGAGGGATCCTCCCGGGGAAGGGGGATCCTCACGGGGAAGGGCA TCCTCAGGGGGAAGGGGGATCCTCATGGGGAGGGGGATCCTCAGGGGGAG GGGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAGGGGGGGATCCTC CTCACAGGGAGGTGGATCCTCACGGGGAAGGGATCCTCAGGGGGAGGGGG ATCCTCACAGGGAGGGGATCCTCGGGAAGGTGGATCCTCACGGGGAGGAG GATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGA GGGGGGATCCTCACGGGGAGGGGGGGATCCTCACGGGGAGGGGATCCTCA GGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATC CTCACGGGGAGGGGATCCTCAGGGGGAGGTGGATCCTCAGGGGGAGGTGG ATCCTCACGGGGAGGGGATCCTCAGGCGGAGGGGGATCCTCCTCAGGGGG AGGGGGGATCCTCACGGGGAAGGGGGATCCTCACAGGGAGGCGGGTCCTC ACGGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCATGGGGAGAGGGAT CCTCACGGGGAGGGGGATCCTCAGAGGGAGGGGGGATCCTTGGGGGGAGG GGGATCCTCACAGGGTGGGGGGATCCTCACAGGGAGGGGGATCCTCACAG GGAGGGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC110_chr4_185440182_185476733	185471202	G G	GGGGGCGG others(725): Show GGGGGCGGGGAGGGCCGGGAGGGCGGGGAGGGCGGGGCGGAGGGAATTAG GAGGGGGCGGGGCTGAAGGCTGGGGCGGGGCGCAGCGATGGGATGGGGAG GAGAGACTGGGCGGGACCTGTGGGGGCAGAGGAATGGGGCGGGGTCAAGG CTGAAGGCTGGGGCGGGGCGGAGGGATGGGGCGGGGCAGGGCTAACGGCT GGGGCGGGGCGGAGGGAATTAGGAGGGGGCGGGGCTGAAGGCTGGGGCGG AGGGGCGGGGAGGGCGGGGAGGGCGGGGCGGAGGGAATTAGGAGGGGGCG GGGCTGAAGGCTGGGGCGGGGCGCAGGGATGGGATGGGGCGGAGAGACTG GGCGGGACCTGTGGGGGCAGAGGAATGGGGCGGGGTCAAGGCTGAAGGCT GGGGCGGGGCGGAGGGATGGGGCGGGGCAGGGCTAACGGCTGGGGCGGGG CAGAGGAAATTAGGAGGGGGCGGGGCTGAAGGCTGGGGCGGAGGGGCGGG GAGGGCGGGGAGGGCGGGGCGGAGGGAATTAGGAGGGGGCGGGTTTGAAG GCTGGGGCGGGGCGCAGGGATGGGATGGGGCGGAGAGACTGGGCGGGACC TGTGGGGGCAGAGGAATGGGGCGGGGTCAAGGCTGAAGGCTGGGGCGGGG CGGAGGGATGGGGCGGGGCAGGGCTAACGGCTGGGGCGGGGCAGAGGAAA TTAGGAGGGGGCGGGGCTGAAGGCTGGGGCGGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp1 HG03486.hp2 HG02257.hp2 HG02630.hp1 HG03486.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0019 a0003c0003t0002g0117 a0001c0001t0002g0019 a0003c0003t0002g0117	3	424	0.0071	732	c.11- others(745): Show c.11-154_11-153insTCCGCCCCAGCCTTCAGCCCCGCCCCCTCCTA ATTTCCTCTGCCCCGCCCCAGCCGTTAGCCCTGCCCCGCCCCATCCCTCC GCCCCGCCCCAGCCTTCAGCCTTGACCCCGCCCCATTCCTCTGCCCCCAC AGGTCCCGCCCAGTCTCTCCGCCCCATCCCATCCCTGCGCCCCGCCCCAG CCTTCAAACCCGCCCCCTCCTAATTCCCTCCGCCCCGCCCTCCCCGCCCT CCCCGCCCCTCCGCCCCAGCCTTCAGCCCCGCCCCCTCCTAATTTCCTCT GCCCCGCCCCAGCCGTTAGCCCTGCCCCGCCCCATCCCTCCGCCCCGCCC CAGCCTTCAGCCTTGACCCCGCCCCATTCCTCTGCCCCCACAGGTCCCGC CCAGTCTCTCCGCCCCATCCCATCCCTGCGCCCCGCCCCAGCCTTCAGCC CCGCCCCCTCCTAATTCCCTCCGCCCCGCCCTCCCCGCCCTCCCCGCCCC TCCGCCCCAGCCTTCAGCCCCGCCCCCTCCTAATTCCCTCCGCCCCGCCC CAGCCGTTAGCCCTGCCCCGCCCCATCCCTCCGCCCCGCCCCAGCCTTCA GCCTTGACCCCGCCCCATTCCTCTGCCCCCACAGGTCCCGCCCAGTCTCT CCTCCCCATCCCATCGCTGCGCCCCGCCCCAGCCTTCAGCCCCGCCCCCT CCTAATTCCCTCCGCCCCGCCCTCCCCGCCCTCCCGGCCCTCCCCGCCCC	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding	1/6			chr4	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(725): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGG AGGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGG GGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGTG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGG AGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCGGGGGAGGGGGGAGG AGGGGAGCTGGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAG CAGGGGAGGGGGGAGGAGGGGGAGCTGGGAGGGGGGAGGAGGGGGAGCTG GGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGG AGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGG GGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGGAGGAGGGGGAGCAGGGGAGGGGGA GGAGGGAGAGCAGGGGGAGGGGGGAGGGAGGGGGAGCAGGGGAGGGGGAG GAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCTGGGAGGGGGGAGGAGG GGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGA GCAGGGGAGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0068 a0001c0003t0002g0068	1	11	0.0909	732	c.-26 others(741): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCT CCTCCCCCCTCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTC CCCCTCCCCTGCTCCCCCTCCCTCCCCCCTCCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCCTCCCCAGCTCCCCCTCCTCCCC CCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCC TCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCTCCC CAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAG CTCCCCCTCCTCCCCCCTCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTC CCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCAGCTCCCCTCCT CCCCCCTCCCCCGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCC CCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCAC CCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCT CCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCCTCCC CTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(725): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGG GAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGG GGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGA GGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCGGGGGAGGGGGGAGGA GGGGGAGCTGGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGA GCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGC TGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGG GGAGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGG GGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGG AGGAGGGAGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGG AGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGG GGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGA GCAGGGGAGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0059 a0001c0003t0025g0059	1	11	0.0909	732	c.-26 others(741): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCT CCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCCC CCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCC TCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTC CCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCTCCCCA GCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCT CCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCAGCTCCCCCTCC TCCCCCCTCCCCCGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCC CCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCC CCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCT CCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCC TGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(725): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGG GAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGG GGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGA GGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCGGGGGAGGGGGGAGGA GGGGGAGCTGGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGA GCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGC TGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGG GGAGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGG GGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGG AGGAGGGAGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGG AGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGG GGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGA GCAGGGGAGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0003 a0001c0003t0002g0003	1	11	0.0909	732	c.-26 others(741): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCT CCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCT CCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCCC CCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCC TCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTC CCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCTCCCCA GCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCT CCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCAGCTCCCCCTCC TCCCCCCTCCCCCGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCC CCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCC CCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCT CCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCC TGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(725): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGAGGAGGGGGAGCTGGGGAG GGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGA GGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGG AGGGGGAGCAGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGGGGA GCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGAGCTG GGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGAGCTGGGG AGGGGGGAGGAGGGGGAGCTGGGAGGGGGAGGAGGGGGAGCTGGGGAGGG GGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGG AGGAGGGGGAGCTGGGGAGGGGAGGAGGGGAGCTGGGGAGGGGAGGAGGG GGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGA GGAGGGAGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGA GGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGG GGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGA GCAGTGGAGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0098	1	11	0.0909	732	c.-26 others(741): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCC TCCTCCCCTCCCCAGCTCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCC TCCCCAGCTCCCCCTCCTCCCCCTCCCAGCTCCCCCTCCTCCCCCCTCCC CAGCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAG CTCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCCCAGCTCCCCCTCCTCCCCCCTCCCTGCTCCCCCTCCT CCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCC CCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCC CCTCCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTC CCCAGCTCCCCCTCCTCCCCCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar

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