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
RBBP8_chr18_22928328_23031486	23022668	T T	TAAAATAA others(223): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0172 a0001c0002t0006g0172	1	330	0.0030	230	c.259 others(247): Show c.2596+401_2596+402insATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAATAAAATAAAATAAA AA	RBBP8	ENSG00000101773.19	transcript	ENST00000327155.10	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr18	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(223): Show GCCCACCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCC ATCCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCC CCCGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCC ATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCATCCCCCCACCCCCATC CCCCACCCCCCACCCATCCCCCAGCCCCACC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02922.hp1 HG03516.hp1 others(1): Show HG02895.hp1 HG02922.hp1 HG03516.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0138 a0001c0001t0003g0018 a0001c0001t0003g0049 a0001c0001t0001g0138 a0001c0001t0003g0018 a0001c0001t0003g0049	4	452	0.0089	230	c.757 others(245): Show c.757-202_757-201insCCCCATCCCCCGTCCCCCGTCCCCCATCTC CTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCCCCCATCCCATCCCCCAC CCCCATCCCCCGTCCCCCGTCCCCATCCCCCATCCCCCATCCCCATCCCC CGTCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCAT CCCCCCACCCCCATCCCCCACCCCCCACCCATCCCCCAGCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RBM33_chr7_155639661_155786480	155673655	T T	TATACACG others(223): Show TATACACGCATATACATACACACGTGTATATATATACACGCATATACATA CACACGTGTATATATATACACGCATATACATACACACGTGTATATATATA CACGCATATACATACACACGTGTATATATACACGCATATACATACACACG TGTATATATATACACGCATATACATACACACGTGTATATATATACACGCA TATATACATACACACGTGTATATATATACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0047 a0001c0003t0047	a0001c0003t0047g0282 a0001c0003t0047g0282	1	306	0.0033	230	c.171 others(245): Show c.171+741_171+742insTACACGCATATACATACACACGTGTATATA TATACACGCATATACATACACACGTGTATATATATACACGCATATACATA CACACGTGTATATATATACACGCATATACATACACACGTGTATATATACA CGCATATACATACACACGTGTATATATATACACGCATATACATACACACG TGTATATATATACACGCATATATACATACACACGTGTATATATATACACA	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RER1_chr1_2386841_2410436	2401360	C C	CCTCCTCC others(223): Show CCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTTCC CTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCT CCCTTCTTCCTCCCTCCTCCCTTCCTCCTCCTCCCTCCTCCCCCTCCTCC CTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCT CCTCCCTCCCTCCTCCTTCCTCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	354	0.0028	230	c.365 others(245): Show c.365+425_365+426insCTCCTCCCTCCCTCCTCCTCCCTCCTCCTC CCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTC CTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCCTTCCTCCTCC TCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCC TCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6			chr1	TogoVar
RGS22_chr8_99955936_100111049	100051791	A A	ATGTTTAT others(223): Show ATGTTTATATATTTATATATTTATATATAAATGTTTATATATTTATATAT TTATATATAAATGTTTATATATATTTATATATTTATATATAAATGTTTAT ATATATTTATATATTTATATATAAATGTTTATATATATTTATATATTTAT ATATGTTTATATATATTTATATATTTATATATAAATGTTTATATATATTT ATATATTTATATATAAATGTTTATATATATT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	310	0.0032	230	c.168 others(249): Show c.1689+1010_1689+1011insAATATATATAAACATTTATATATAAA TATATAAATATATATAAACATTTATATATAAATATATAAATATATATAAA CATATATAAATATATAAATATATATAAACATTTATATATAAATATATAAA TATATATAAACATTTATATATAAATATATAAATATATATAAACATTTATA TATAAATATATAAATATATAAACATTTATATATAAATATATAAATATATA AACA	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	10/27			chr8	TogoVar
RNASE10_chr14_20500537_20518884	20505289	C C	CCTCTCCC others(223): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	1	396	0.0025	230	c.-73 others(239): Show c.-736_-735insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding		247		chr14	TogoVar
RPSA2_chr19_23758004_23833868	23761922	T T	TCCTTCCT others(223): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0068 a0003c0003t0068	a0003c0003t0068g0002 a0003c0003t0068g0002	1	366	0.0027	230	c.-15 others(241): Show c.-1515_-1514insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1081		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80665331	C C	CTTTTTCC others(223): Show CTTTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0096 a0001c0096	a0001c0096t0072 a0001c0096t0072	a0001c0096t0072g0171 a0001c0096t0072g0171	1	196	0.0051	230	c.348 others(249): Show c.348+21521_348+21522insTTTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963400	C C	CCTCTGCG others(223): Show CCTCTGCGGCCCTCACCCCGTCCCCTCTGCGTCCCTCACCCCGTCCCCTC TGCGTCCCTCACCCCGTCCCCTCTGCGTCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0077 a0001c0077	a0001c0077t0086 a0001c0077t0086	a0001c0077t0086g0195 a0001c0077t0086g0195	1	196	0.0051	230	c.393 others(247): Show c.3939+345_3939+346insCTGCGGCCCTCACCCCGTCCCCTCTGCG TCCCTCACCCCGTCCCCTCTGCGTCCCTCACCCCGTCCCCTCTGCGTCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCG CT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963702	G G	GTGCGGCC others(223): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTGTGCGGCCCTCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0080 a0001c0080	a0001c0080t0011 a0001c0080t0011	a0001c0080t0011g0077 a0001c0080t0011g0077	1	196	0.0051	230	c.394 others(247): Show c.3940-538_3940-537insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCC CT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTN1_chr14_59590983_59875776	59750565	T T	TATATATA others(223): Show TATATATATATCTATAATATATAATATATCTATAATATATAATATATCTA TAATATATAATATATCTATAATATATAATATATCTATAATATATATATTA TAGATATAATATATAATATATATATATATAATATATAATATATTATATAT AATATATTATATATTATATCTATAATATATAATATATTATATCTATAATA TATTATATGTAATATATATGTTATATCTATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	172	0.0058	230	c.242 others(247): Show c.242-4085_242-4084insTATAGATATAACATATATATTACATATA ATATATTATAGATATAATATATTATATATTATAGATATAATATATAATAT ATTATATATAATATATTATATATTATATATATATATATTATATATTATAT CTATAATATATATATTATAGATATATTATATATTATAGATATATTATATA TTATAGATATATTATATATTATAGATATATTATATATTATAGATATATAT AT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTP5_chr2_241864729_241878823	241878128	C C	CCTCGCTC others(223): Show CCTCGCTCCCCTCCCTCTCCTGGCCGTCCCCCACCCCCATCCCTCTCCTC GCTCCCCTCCCTCTCCTGGCCGCCCCCCCCACCCCATCCCTCTCCTCGCT CCCCTCCCTCTCCTGGCCCCCCCACCCCTTCCCTCTCTCCTCGCTCCCCT CCCTCTCCCGGCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCT CCTGGCCGCCCCCCCCCACCCCATCCCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG02630.hp1 others(5): Show HG02145.hp1 HG02559.hp1 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG03130.hp1 HG03195.hp2 NA18906.hp2	a0005 a0006 a0005 a0006	a0005c0005 a0006c0006 a0005c0005 a0006c0006	a0005c0005t0005 a0006c0006t0007 a0005c0005t0005 a0006c0006t0007	a0005c0005t0005g0005 a0006c0006t0007g0009 a0005c0005t0005g0005 a0006c0006t0007g0009	8	365	0.0219	230	c.48 others(241): Show c.4854_*4855insCTCGCTCCCCTCCCTCTCCTGGCCGTCCCCCACC CCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCCCACCCC ATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCCCCCCACCCCTTCCCTC TCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCCACCCCCATCCCTCTCCT CGCTCCCCTCCCTCTCCTGGCCGCCCCCCCCCACCCCATCCCTCTT	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4306		chr2	TogoVar
SCNN1A_chr12_6341847_6380563	6369365	G G	GCCTCCCT others(223): Show GCCTCCCTCCTGCCACCCTACTCACCTCCCTCCTGCCACCCTACGCGCCT CCCTCCTGCCACCCTACACGCCTCCCTCCTGCCACCCTACTCACCTCCCT CCTGCCACCCTACTCACCTCCCTCCTGCCACCCTACGCGCCTCCCTCCTG CCACCCTACGCACCTCCCTCCTGCCACCCTACGCGCCTCCCTCCTGCCAC CCTACGCACCTCCCTCCTGCCACCCTACGCA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0206 a0001c0004t0001g0207 a0001c0004t0001g0206 a0001c0004t0001g0207	2	454	0.0044	230	c.416 others(247): Show c.416+5002_416+5003insTGCGTAGGGTGGCAGGAGGGAGGTGCGT AGGGTGGCAGGAGGGAGGCGCGTAGGGTGGCAGGAGGGAGGTGCGTAGGG TGGCAGGAGGGAGGCGCGTAGGGTGGCAGGAGGGAGGTGAGTAGGGTGGC AGGAGGGAGGTGAGTAGGGTGGCAGGAGGGAGGCGTGTAGGGTGGCAGGA GGGAGGCGCGTAGGGTGGCAGGAGGGAGGTGAGTAGGGTGGCAGGAGGGA GG	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	2/12			chr12	TogoVar
SCX_chr8_144261453_144273481	144262844	A A	ACCCCTCA others(223): Show ACCCCTCACCTGCAGGGTGCACCGCCCCCCCCCACCCCTCACCTGCAGGG TACACCGCCCCCCCCCCACCCCTCACCTGCAGGGTGCACCGCCCCCCCCA CCCCTCACCTGCAGGGTGCACTGCCCCTACCCCCACCCCTCACCTGCAGG GTACACCGCCCCCCCCCACCCCTCACCTGCAGGGTACACCGCCCCCCCCC CACCCCTCACCTGCAGGGTGCACTGCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	230	c.-37 others(241): Show c.-3770_-3769insCCCCTCACCTGCAGGGTGCACCGCCCCCCCCCAC CCCTCACCTGCAGGGTACACCGCCCCCCCCCCACCCCTCACCTGCAGGGT GCACCGCCCCCCCCACCCCTCACCTGCAGGGTGCACTGCCCCTACCCCCA CCCCTCACCTGCAGGGTACACCGCCCCCCCCCACCCCTCACCTGCAGGGT ACACCGCCCCCCCCCCACCCCTCACCTGCAGGGTGCACTGCCCCCC	SCX	ENSG00000260428.3	transcript	ENST00000567180.3	protein_coding		3608		chr8	TogoVar
SEPTIN9_chr17_77276499_77505593	77484974	T T	TGATGCTG others(223): Show TGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTG AAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGT GATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGG TGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGG GTGATGGTGATTGTGATGGTGGTGATGGGGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp2 HG03098.hp1 others(1): Show HG02257.hp2 HG02572.hp2 HG03098.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0010 a0002c0002t0041 a0002c0002t0004 a0002c0002t0010 a0002c0002t0041	a0002c0002t0004g0145 a0002c0002t0010g0030 a0002c0002t0010g0136 others(1): Show a0002c0002t0004g0145 a0002c0002t0010g0030 a0002c0002t0010g0136 a0002c0002t0041g0041	4	150	0.0267	230	c.914 others(247): Show c.914-2446_914-2445insCTGGTGATTGTGGTGAAGGGGGTGATGG TGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAG GGGGTGATGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGT GGTGAAGGGGGTGATGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTG TGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGCGA TG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484974	T T	TGATGCTG others(223): Show TGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTG AAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGT GATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGG TGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGG GTGATGGTGATTGTGATGGTGGTGATGGGGC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp2 HG03098.hp2 others(1): Show HG02257.hp1 HG02572.hp2 HG03098.hp2 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0012 a0002c0002t0003 a0002c0002t0012	a0002c0002t0003g0008 a0002c0002t0003g0026 a0002c0002t0003g0134 others(1): Show a0002c0002t0003g0008 a0002c0002t0003g0026 a0002c0002t0003g0134 a0002c0002t0012g0140	4	158	0.0253	230	c.860 others(247): Show c.860-2446_860-2445insCTGGTGATTGTGGTGAAGGGGGTGATGG TGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAG GGGGTGATGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGT GGTGAAGGGGGTGATGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTG TGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGCGA TG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGCD_chr5_156322164_156772788	156423193	A A	AATATATT others(223): Show AATATATTTTATTATAATATAATATTATATTATATTTTATTATAATATAA TATAATATATTTTATTATAATATAATATAATATTATATTTTATTATAATA TAATATAATATATTATATTATAATATAATATAATATAATATTTTATTATA ATATAATATTATATTTTATTATAATATAATATTATATTATAATATAATAT AATATTGTATTATATTTTATTATAATATAAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp1 HG02622.hp1 others(4): Show HG01243.hp2 HG02258.hp1 HG02622.hp1 HG02630.hp2 HG02922.hp1 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0020 a0001c0002t0011 others(3): Show a0001c0001t0001 a0001c0001t0020 a0001c0002t0011 a0001c0002t0053 a0001c0004t0001 a0001c0004t0017	a0001c0001t0001g0008 a0001c0001t0020g0017 a0001c0002t0011g0083 others(4): Show a0001c0001t0001g0008 a0001c0001t0020g0017 a0001c0002t0011g0083 a0001c0002t0011g0084 a0001c0002t0053g0085 a0001c0004t0001g0009 a0001c0004t0017g0007	7	150	0.0467	230	c.192 others(249): Show c.192+78520_192+78521insATTTTATTATAATATAATATTATATT ATATTTTATTATAATATAATATAATATATTTTATTATAATATAATATAAT ATTATATTTTATTATAATATAATATAATATATTATATTATAATATAATAT AATATAATATTTTATTATAATATAATATTATATTTTATTATAATATAATA TTATATTATAATATAATATAATATTGTATTATATTTTATTATAATATAAT ATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCZ_chr8_14079845_15243431	15012554	A A	ATATATAA others(223): Show ATATATAACATATAAATATATATTTATATAACATATAAATATATATTTAT ATAACATATAAATATATATTTATATAACATATAAATATATATTTATATAA CATATAAATATATATTTATATAACATATAAATATATATTTATATAACATA TAAATATATATTTATATAACATATAAATATATATTTATATAACATATAAA TATATATTTATATAACATATAAATATATATT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG06807.hp2 others(2): Show HG02109.hp2 HG02717.hp1 HG06807.hp2 NA19030.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0029 a0001c0001t0038 a0001c0001t0052 others(2): Show a0001c0001t0029 a0001c0001t0038 a0001c0001t0052 a0001c0001t0060 a0003c0003t0043	a0001c0001t0029g0016 a0001c0001t0038g0023 a0001c0001t0052g0077 others(2): Show a0001c0001t0029g0016 a0001c0001t0038g0023 a0001c0001t0052g0077 a0001c0001t0060g0071 a0003c0003t0043g0041	5	102	0.0490	230	c.39+ others(249): Show c.39+225030_39+225031insAATATATATTTATATGTTATATAAAT ATATATTTATATGTTATATAAATATATATTTATATGTTATATAAATATAT ATTTATATGTTATATAAATATATATTTATATGTTATATAAATATATATTT ATATGTTATATAAATATATATTTATATGTTATATAAATATATATTTATAT GTTATATAAATATATATTTATATGTTATATAAATATATATTTATATGTTA TATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SHISA5_chr3_48462876_48509174	48486239	C C	CATATATT others(223): Show CATATATTATATACTATATATATATTATATATATTATATATTATATACTA TATATATTATATATACATAGTATATATTATATAATATATATAATATAGTA TATATTATATAATATATACTATATTATATATAGTATATAATACATTATAT GTTATATAACATATAATGTATTATATATTATATGTTATATAATATATAAT ACATTATATGTTATATAACATATAATGTATT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02818.hp2 HG01109.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0146 a0001c0001t0001g0124 a0001c0001t0001g0146	2	290	0.0069	230	c.234 others(247): Show c.234-6983_234-6982insAATACATTATATGTTATATAACATATAA TGTATTATATATTATATAACATATAATATATAATACATTATATGTTATAT AACATATAATGTATTATATACTATATATAATATAGTATATATTATATAAT ATATACTATATTATATATATTATATAATATATACTATGTATATATAATAT ATATAGTATATAATATATAATATATATAATATATATATAGTATATAATAT AT	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(223): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATGAAAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0015 a0015	a0015c0079 a0015c0079	a0015c0079t0003 a0015c0079t0003	a0015c0079t0003g0174 a0015c0079t0003g0174	1	256	0.0039	230	c.165 others(247): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATGAAAAAAGAAAAGA AA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	401629	G G	GACCCGCT others(223): Show GACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCT CACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA CCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCC GCCCCGCTCACCCCCGGCCCCGCTCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	242	0.0041	230	c.42 others(241): Show c.4266_*4267insGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGG TGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGT GAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGC GGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGG CGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAGCGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4086		chr11	TogoVar
SLC25A41_chr19_6421037_6438763	6429025	A A	ATATATAT others(223): Show ATATATATATTATATATATGTTATATATATATATAATATATATATTATAT ATATGTTATATATATATATAATATATATATTATATATATGTTATATATAT ATATAATATATATATTATATATATGTTATATATATATATAATATATATAT TATATATATGTTATATATATATATAATATATATATTATATATATGTTATA TATATATATAATATATATATTATATATATGT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18960.hp2 NA19083.hp2 others(1): Show NA18947.hp2 NA18960.hp2 NA19083.hp2 NA19085.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0069 a0002c0003t0001g0070 a0002c0003t0001g0110 others(1): Show a0002c0003t0001g0069 a0002c0003t0001g0070 a0002c0003t0001g0110 a0002c0003t0001g0111	4	350	0.0114	230	c.624 others(245): Show c.624+698_624+699insACATATATATAATATATATATTATATATAT ATATAACATATATATAATATATATATTATATATATATATAACATATATAT AATATATATATTATATATATATATAACATATATATAATATATATATTATA TATATATATAACATATATATAATATATATATTATATATATATATAACATA TATATAATATATATATTATATATATATATAACATATATATAATATATATA	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC2A5_chr1_9030106_9074635	9053368	T T	TTATATAT others(223): Show TTATATATTATATATATTTATATATATTATATATTTATATATTATATATA TTTATATATAATATATATTATATATTTATATATTATATATATTTATATAT ATTATATATTTATATATTATATATATTTATATATATTATATATTTATATA TTATATATATTTATATATATTATATATTTATATATTATATATATTTATAT ATATTATATATTTATATATTATATATATTTA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0085 a0001c0001t0007g0085	1	336	0.0030	230	c.293 others(247): Show c.293+4079_293+4080insTAAATATATATAATATATAAATATATAA TATATATAAATATATATAATATATAAATATATAATATATATAAATATATA TAATATATAAATATATAATATATATAAATATATATAATATATAAATATAT AATATATATAAATATATATAATATATAAATATATAATATATATTATATAT AAATATATATAATATATAAATATATAATATATATAAATATATATAATATA TA	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC2A5_chr1_9030106_9074635	9053368	T T	TTATATAT others(223): Show TTATATATTATATATATTTATATATATTATATATTTATATATTATATATA TTTATATATATTATATATTTATATATTATATATATTTATATATATTATAT ATTTATATATTATATATATTTATATATAATATATATTATATATTTATATA TTATATATATTTATATATATTATATATTTATATATTATATATATTTATAT ATATTATATATTTATATATTATATATATTTA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02148.hp1 HG01981.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0104 a0001c0001t0002g0105	2	336	0.0060	230	c.293 others(247): Show c.293+4079_293+4080insTAAATATATATAATATATAAATATATAA TATATATAAATATATATAATATATAAATATATAATATATATAAATATATA TAATATATAAATATATAATATATATTATATATAAATATATATAATATATA AATATATAATATATATAAATATATATAATATATAAATATATAATATATAT AAATATATATAATATATAAATATATAATATATATAAATATATATAATATA TA	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC8A1_chr2_40092270_40457090	40200232	A A	AAATATAT others(223): Show AAATATATATATATTTATATATATATATAAATATATATATATATATATAA ATATATATATATATTTATATATATATATAAATATATATATTTATATATAT ATATAAATATATATATATATTTATATATATATATAAATATATATATATTT ATATATATATATAAATATATATATATATTTATATATATATATATATATTT ATATATATATATAAATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0184 a0001c0001t0184	a0001c0001t0184g0188 a0001c0001t0184g0188	1	236	0.0042	230	c.180 others(251): Show c.1809-21740_1809-21739insAAAAAATATATATATATTTATATA TATATATAAATATATATATATATATATAAATATATATATATATTTATATA TATATATAAATATATATATATTTATATATATATATAAATATATATATATA TTTATATATATATATAAATATATATATTTATATATATATATAAATATATA TATATATTTATATATATATATATATATTTATATATATATATAAATATATA TATATT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC9A3_chr5_465456_529449	467629	G G	GGGCGCCC others(223): Show GGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGATGGC GCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGTGCCC TCCTGATCCCCTCATGTCTGACATCCCCTCAGCCTGGATGGCGCCCTCCT GGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGTGCCCTCCTGGTC CCCTCATGTCTGACATCCCCTCAGCCTGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0174 a0002c0002t0003g0174	1	218	0.0046	230	c.57 others(241): Show c.5749_*5750insATCCAGGCTGAGGGGATGTCAGACATGAGGGGAC CAGGAGGGCACCCTCTAGGCTGAGGGGATGTCAGACAGGAGGGGACCAGG AGGGCGCCATCCAGGCTGAGGGGATGTCAGACATGAGGGGATCAGGAGGG CACCCTCTAGGCTGAGGGGATGTCAGACAGGAGGGGACCAGGAGGGCGCC ATCCAGGCTGAGGGGATGTCAGACAGGAGGGGACCAGGAGGGCGCC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding		2826		chr5	TogoVar
SLC9A3_chr5_465456_529449	507670	A A	ACAGACGC others(223): Show ACAGACGCCCGAATCCTCACCCTGCAGACGCCCGAATCCCCACCCCGCAG ACGCCCGAATCCCCACCCCACAGACGCCCGAATCTCCACCCCACAGACGC CCGAATCCCCACCCCACAGACGCCCGAATCCCCACCCCGCAGACGCCCGA ATCCTCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCC TCACCCCGCAGACGCCCGAATCCCCACCCCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18522.hp1 NA20300.hp1 HG02257.hp2 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026	3	218	0.0138	230	c.212 others(249): Show c.212-15600_212-15599insCGGGGTGGGGATTCGGGCGTCTGCGG GGTGAGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTG AGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGA TTCGGGCGTCTGTGGGGTGGAGATTCGGGCGTCTGTGGGGTGGGGATTCG GGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCAGGGTGAGGATTCGGGCG TCTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	507670	A A	ACAGACGC others(223): Show ACAGACGCCCGAATCCTCACCCTGCAGACGCCCGAATCCCCACCCCGCAG ACGCCCGAATCCCCACCCCACAGACGCCCGAATCTCCACCCCACAGACGC CCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGA ATCCTCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCC CCACCCCGCAGACGCCCGAATCCCCACCCCG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	218	0.0046	230	c.212 others(249): Show c.212-15600_212-15599insCGGGGTGGGGATTCGGGCGTCTGCGG GGTGGGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTG AGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGA TTCGGGCGTCTGTGGGGTGGAGATTCGGGCGTCTGTGGGGTGGGGATTCG GGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCAGGGTGAGGATTCGGGCG TCTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	507670	A A	ACAGACGC others(223): Show ACAGACGCCCGAATCCTCACCCTGCAGACGCCCGAATCCCCACCCCGCAG ACGCCCGAATCCCCACCCCACAGACGCCCGAATCTCCACCCCACAGACGC CCGAATCCCCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGA ATCCTCACCCCGCAGACGCCCGAATCCCCACCCCGCAGACGCCCGAATCC TCACCCCGCAGACGCCCGAATCCCCACCCCG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	218	0.0046	230	c.212 others(249): Show c.212-15600_212-15599insCGGGGTGGGGATTCGGGCGTCTGCGG GGTGAGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTG AGGATTCGGGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCGGGGTGGGGA TTCGGGCGTCTGTGGGGTGGAGATTCGGGCGTCTGTGGGGTGGGGATTCG GGCGTCTGCGGGGTGGGGATTCGGGCGTCTGCAGGGTGAGGATTCGGGCG TCTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168746905	A A	AGTGTGGT others(223): Show AGTGTGGTGGTGTGGGTGTGGTGGTGTGTGGTGTGTGAGTGTGGTGGTGT GGGTGTGGCGGTGTGTGGTGGTGTGTGGTGTGTGAGTGTGGTGGTGTGGG TGTGGTGGTGTGTGGTGTGTGAGTGTGGTGGTGTGGGTGTGGCGGTGTGT GGTGTGTGAGTGTGGTGGTGTGGGTGTGGTGGTGTGTGGTGTGTGAGTGT GGTGGTGTGGGTGTGGCGGTGTGTGGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp2 HG01106.hp2 others(20): Show HG00639.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01255.hp1 HG02109.hp2 HG02145.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 NA18522.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0010 a0011 a0012	a0001c0001 a0001c0004 a0001c0006 others(13): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0001c0032 a0001c0038 a0001c0040 a0002c0002 a0002c0005 a0002c0011 a0002c0044 a0002c0049 a0004c0039 a0010c0045 a0011c0028 a0012c0024	a0001c0001t0001 a0001c0001t0003 a0001c0004t0005 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0005 a0001c0004t0019 a0001c0006t0009 a0001c0007t0001 a0001c0007t0003 a0001c0032t0001 a0001c0038t0011 a0001c0040t0001 a0002c0002t0008 a0002c0005t0003 a0002c0005t0027 a0002c0011t0005 a0002c0044t0007 a0002c0049t0003 a0004c0039t0006 a0010c0045t0002 a0011c0028t0006 a0012c0024t0029	a0001c0001t0001g0010 a0001c0001t0001g0083 a0001c0001t0001g0090 others(20): Show a0001c0001t0001g0010 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0003g0106 a0001c0004t0005g0008 a0001c0004t0019g0102 a0001c0006t0009g0113 a0001c0007t0001g0040 a0001c0007t0003g0124 a0001c0032t0001g0048 a0001c0038t0011g0066 a0001c0040t0001g0093 a0002c0002t0008g0022 a0002c0005t0003g0114 a0002c0005t0027g0030 a0002c0011t0005g0065 a0002c0011t0005g0075 a0002c0044t0007g0101 a0002c0049t0003g0127 a0004c0039t0006g0087 a0010c0045t0002g0079 a0011c0028t0006g0014 a0012c0024t0029g0076	23	132	0.1742	230	c.227 others(249): Show c.2270+1396_2270+1397insACACACCACACACCGCCACACCCACA CCACCACACTCACACACCACACACCACCACACCCACACCACCACACTCAC ACACCACACACCGCCACACCCACACCACCACACTCACACACCACACACCA CCACACCCACACCACCACACTCACACACCACACACCACCACACACCGCCA CACCCACACCACCACACTCACACACCACACACCACCACACCCACACCACC ACAC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SMAD2_chr18_47803957_47935659	47850540	A A	ATATATTA others(223): Show ATATATTATATATATATTATATATATTATGTATAATATATATTATATATT ATATATATTATGTATAATATATATTATATATTATATATATATTATATATA TTATGTATAATATATATTATATATTATATATATTATGTATAATATATATT ATATATTATATATTATATATATTATGTATAATATATATTATATATTATAT ATATATTATATATATTATGTATAATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0232 a0001c0001t0088g0232	1	310	0.0032	230	c.784 others(245): Show c.784+733_784+734insATATATATTATACATAATATATATAATATA TATATAATATATAATATATATTATACATAATATATATAATATATAATATA TAATATATATTATACATAATATATATAATATATAATATATATTATACATA ATATATATAATATATATATAATATATAATATATATTATACATAATATATA TAATATATAATATATATTATACATAATATATATAATATATATATAATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMOC1_chr14_69874416_70037366	69930167	A A	ACCCCTGA others(223): Show ACCCCTGACAGCACCCTTCCCACTCCCCTGACAGCACCCTTCTCACCCCC CTGACAGCACCCTTCCCACTCCCCTGACAGCACCCTTCTCACCCCCCTGA CAGCACCCTTCCCACTCCCCTGACAGCACCCTTCTCACCCCCCTGACAGC ACCCTTCCCACTCCCCTGACAGCACCCTTCTCACCCCCCTGACAGCACCC TTCCCACTCCCCTGACAGCACCCTTCTCACC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	270	0.0037	230	c.100 others(249): Show c.100-21903_100-21902insTCCCCTGACAGCACCCTTCTCACCCC CCTGACAGCACCCTTCCCACTCCCCTGACAGCACCCTTCTCACCCCCCTG ACAGCACCCTTCCCACTCCCCTGACAGCACCCTTCTCACCCCCCTGACAG CACCCTTCCCACTCCCCTGACAGCACCCTTCTCACCCCCCTGACAGCACC CTTCCCACTCCCCTGACAGCACCCTTCTCACCCCCCTGACAGCACCCTTC CCAC	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMYD3_chr1_245744347_246512279	246325242	G G	GGGGGGGC others(223): Show GGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGA AGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAG GAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGC GGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCG GGGGGGGCGGGAAGGAGGGAGAAGGAGTCGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	150	0.0067	230	c.531 others(247): Show c.531+1958_531+1959insGCGACTCCTTCTCCCTCCTTCCCGCCCC CCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTT CCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCC CTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACT CCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCC CC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNED1_chr2_240993618_241100568	241035712	C C	CGGGGTGC others(223): Show CGGGGTGCAGGCGCGCCATGGGGTGGGGGATGAGGGGTAGAGAGTGTGGG GGTGGGGGATGGGGTATGCAGGTGCGCCACAGGGTTGGGGATGAGGGGTA GATGGTGTGGGGATGGGGGGTGCAGGCGCGCCATGGGGTGGGGGATGAGG GGTAGAGAGTGTGGGGGTGGGGGATGGGGTATGCAGGTGCGCCACAGGGT TGGGGATGAGGGGTAGATGGTGTGGGGATGG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	344	0.0029	230	c.806 others(245): Show c.806-946_806-945insTGGGGTGGGGGATGAGGGGTAGAGAGTGTG GGGGTGGGGGATGGGGTATGCAGGTGCGCCACAGGGTTGGGGATGAGGGG TAGATGGTGTGGGGATGGGGGGTGCAGGCGCGCCATGGGGTGGGGGATGA GGGGTAGAGAGTGTGGGGGTGGGGGATGGGGTATGCAGGTGCGCCACAGG GTTGGGGATGAGGGGTAGATGGTGTGGGGATGGGGGGTGCAGGCGCGCCA	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1221991	C C	CTCTCTGT others(223): Show CTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCT CTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTCTCTCTCTCTGTCTCTGT CTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGT CTCTGCCTATCTCTGTCTCTGTTTCTCTCTGTCTCTGTCTCTGTCTCTGT CTCTGTCTCTCTCTGTCTCTGTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0088 a0004c0004t0001g0088	1	190	0.0053	230	c.719 others(249): Show c.719+12764_719+12765insCTGTCTCTCTCTGTCTCTCTCTGTCT CTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGT CTCTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGT CTCTCTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTTTCTCTCT GTCTCTGTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCT GTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS3_chr10_104636290_105270242	104970554	C C	CCTTCATA others(223): Show CCTTCATAGTGCCATGGGAAGAGGAAGTTATTTGGTCTATGATTACTCTA AGAGTATTTCCCTGCATTATTCACACATGAGTGAAAAAAAGTTATTATAC TGCTCCATTTCTTAAAAATTTGCTGATAACTAGTGATGACTTATTTCAAT GAAGCCAAAGCAAATATTTGAGAAAAGAAAGTAAGCTTGTCTTAGAAGCT GTAAAGGAATAAAAGAGGGAAGTTATTTGGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0130 a0001c0015t0002g0130	1	134	0.0075	230	c.796 others(247): Show c.796-6690_796-6689insTATTATACTGCTCCATTTCTTAAAAATT TGCTGATAACTAGTGATGACTTATTTCAATGAAGCCAAAGCAAATATTTG AGAAAAGAAAGTAAGCTTGTCTTAGAAGCTGTAAAGGAATAAAAGAGGGA AGTTATTTGGTCTTCATAGTGCCATGGGAAGAGGAAGTTATTTGGTCTAT GATTACTCTAAGAGTATTTCCCTGCATTATTCACACATGAGTGAAAAAAA GT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SPACA7_chr13_112371355_112439689	112438854	G G	GTTATGCC others(223): Show GTTATGCCTAATCTGTATTTGATAACTCCAATATCTGTATTATCCAGAAG TCTGTTTCTATTGCCTGGATTATTGATATGATTGGTACTTTTTGATGGAA TGCTGGACATCGTGTGATGAAAAACTAGAAACTCTGAAAGACATCTAGCT CTGGTAGCCAGTTAGAGTGAGGACAGATCATCTTAATTAAGTTGTTTTAA TACTAGATTTGTCTTTGTAACACCTGGTCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	391	0.0026	230	c.43 others(241): Show c.4305_*4306insTTATGCCTAATCTGTATTTGATAACTCCAATATC TGTATTATCCAGAAGTCTGTTTCTATTGCCTGGATTATTGATATGATTGG TACTTTTTGATGGAATGCTGGACATCGTGTGATGAAAAACTAGAAACTCT GAAAGACATCTAGCTCTGGTAGCCAGTTAGAGTGAGGACAGATCATCTTA ATTAAGTTGTTTTAATACTAGATTTGTCTTTGTAACACCTGGTCTA	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding		4166		chr13	TogoVar
SPAG16_chr2_213279464_214415501	213866585	C C	CAGCTAAA others(223): Show CAGCTAAAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02895.hp1 HG06807.hp2 HG02615.hp2 HG02895.hp1 HG06807.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0010 a0002c0002 a0008c0010	a0002c0002t0001 a0002c0002t0002 a0008c0010t0001 a0002c0002t0001 a0002c0002t0002 a0008c0010t0001	a0002c0002t0001g0051 a0002c0002t0002g0052 a0008c0010t0001g0004 a0002c0002t0001g0051 a0002c0002t0002g0052 a0008c0010t0001g0004	3	86	0.0349	230	c.121 others(249): Show c.1214+3970_1214+3971insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTAGCTAAAAC TCTT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATAATGA others(223): Show CATAATGATATATAATATATATCATTATATAACATAATGATATATAATAT ATATCATTATATAACATAATGATATATAATATATATCATTATATAACATA ATGATATATAATATATATCATTATATAACATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0143 a0001c0001t0016g0143	1	356	0.0028	230	c.-11 others(251): Show c.-112+29099_-112+29100insTAATATATATCATTATATAACATA ATGATATATAATATATATCATTATATAACATAATGATATATAATATATAT CATTATATAACATAATGATATATAATATATATCATTATATAACATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPINT2_chr19_38259573_38297615	38269823	A A	ATGGTCTC others(223): Show ATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAGATGGGATTTC AACATGTGGGCCAGGCTGGTCTCAATCTCCTGACCTTGTGATCTGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CTGAGATGGGATTTCAACATGTGGGCCAGGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02622.hp2 others(12): Show HG01109.hp2 HG01884.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG03041.hp1 HG03486.hp1 HG03579.hp1 HG03654.hp2 HG03942.hp1 NA19067.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0027 others(8): Show a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0076 a0001c0001t0001g0105 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0004c0005t0001g0328	15	400	0.0375	230	c.106 others(247): Show c.106+4831_106+4832insCGATCTCCTGACCTTGTGATCTGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CTGAGATGGGATTTCAACATGTGGGCCAGGCTGGTCTCAATCTCCTGACC TTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTGAGATGGGATTTCAACATGTGGGCCAGGCTGGT CT	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPINT2_chr19_38259573_38297615	38269831	G G	GATCTCCT others(223): Show GATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCTGAGATGGGATTTCAACATGTG GGCCAGGCTGGTCTCAATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAGATG GGATTTCAACATGTGGGCCAGGCTGGTCTCA	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA18522.hp2 HG02895.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0085 a0001c0001t0001g0086	2	400	0.0050	230	c.106 others(247): Show c.106+4947_106+4948insAATCTCCTGACCTTGTGATCTGCCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC TGAGATGGGATTTCAACATGTGGGCCAGGCTGGTCTCAATCTCCTGACCT TGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTGAGATGGGATTTCAACATGTGGGCCAGGCTGGTC TC	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPINT2_chr19_38259573_38297615	38269945	C C	CAATCTCC others(223): Show CAATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTGAGATGGGATTTCAACATGT GGGCCAGGCTGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAGAT GGGATTTCAACATGTGGGCCAGGCTGGTCTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	400	0.0025	230	c.106 others(247): Show c.106+4947_106+4948insAATCTCCTGACCTTGTGATCTGCCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC TGAGATGGGATTTCAACATGTGGGCCAGGCTGGTCTCGATCTCCTGACCT TGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTGAGATGGGATTTCAACATGTGGGCCAGGCTGGTC TT	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	1/6			chr19	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(223): Show AGGGGAGGGGGAGGGGAGGGGAAGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	260	0.0039	230	c.138 others(249): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCCT CCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
ST14_chr11_130154782_130215362	130193782	T T	TTGATTGT others(223): Show TTGATTGTGACAAAGGTGAACTGTTTATCACTAGCGCCTTCCATCAGTGA TTGTGACAAAGGTGAACTGTTTATCACTAGCGCCTTCCATCAGTGATTGT GACAAAGGTGAACTGTTTATCACTAGCGCCTTCCATCAGTGATTGTGACA AAGGTGAACTGTTTATCACTAGCGCCTTCCATCAGTGATTGTGACAAAGG TGAACTGTTTATCACTAGCGCCTTCCATCAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0247 a0001c0001t0003g0247	1	292	0.0034	230	c.876 others(245): Show c.876-175_876-174insACAAAGGTGAACTGTTTATCACTAGCGCCT TCCATCAGTGATTGTGACAAAGGTGAACTGTTTATCACTAGCGCCTTCCA TCAGTGATTGTGACAAAGGTGAACTGTTTATCACTAGCGCCTTCCATCAG TGATTGTGACAAAGGTGAACTGTTTATCACTAGCGCCTTCCATCAGTGAT TGTGACAAAGGTGAACTGTTTATCACTAGCGCCTTCCATCAGTGATTGTG	ST14	ENSG00000149418.11	transcript	ENST00000278742.6	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
SUCLG2_chr3_67369719_67659612	67444479	G G	GCCCGGCC others(223): Show GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTGTCAGCCCC CCTGCCCGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGG CTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02451.hp1 others(3): Show HG02109.hp2 HG02258.hp2 HG02451.hp1 HG02896.hp1 HG03579.hp2 NA19240.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0002 a0012c0011 a0001c0001 a0002c0002 a0012c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0002c0002t0003 a0002c0002t0004 a0012c0011t0003	a0001c0001t0001g0052 a0001c0001t0002g0230 a0001c0001t0009g0214 others(3): Show a0001c0001t0001g0052 a0001c0001t0002g0230 a0001c0001t0009g0214 a0002c0002t0003g0255 a0002c0002t0004g0258 a0012c0011t0003g0067	6	280	0.0214	230	c.106 others(251): Show c.1063-43629_1063-43628insTGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCC GGGCAGGGGGGCTGACACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTG GCCGGG	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUCLG2_chr3_67369719_67659612	67444499	C C	CGGGAGGG others(223): Show CGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGCGGGGGGGTGTCAGCCCCCCTGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCACCCGGCCAGCCGCCCCGTCT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	280	0.0036	230	c.106 others(251): Show c.1063-43649_1063-43648insAGACGGGGCGGCTGGCCGGGTGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCGCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCC	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUN1_chr7_827476_879934	868480	A A	ATGTTGGT others(223): Show ATGTTGGTCGGATGGGGGGGGCAGTGCTGTTCCCTGTGGTGTTGGTCGGA TTGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGT GCTGGGTTCTCTGTGGTGTTGGTCGGATGGGGGGACAGTGCTGGTTCCCT GTGGTGTTGGTCGGATGGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGT CGGATTGGGGGGCAGTGCTGGTTCCCTGTGG	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0017 a0017	a0017c0015 a0017c0015	a0017c0015t0008 a0017c0015t0008	a0017c0015t0008g0259 a0017c0015t0008g0259	1	418	0.0024	230	c.198 others(247): Show c.1981-850_1981-849insGCAGTGCTGTTCCCTGTGGTGTTGGTCG GATTGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCA GTGCTGGGTTCTCTGTGGTGTTGGTCGGATGGGGGGACAGTGCTGGTTCC CTGTGGTGTTGGTCGGATGGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTG GTCGGATTGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGG GG	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SVEP1_chr9_110360248_110584741	110390341	T T	TTATATAT others(223): Show TTATATATACTTATATAAGTATGTGTATATATACGTATATATATACTTAT ATAAGTATATATATACGTATATATATACTTATATATATACTTATATAAGT ATATATATACGTATATATATACTTATATATATATACTTATATAAGTATAT ATATACTTATATAAGTATATATATACTTATATAAGTATATATATACTTAT ATAAGTATATATATACTTATATATACTTATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp2 HG01071.hp2 others(4): Show HG00099.hp2 HG01069.hp2 HG01071.hp2 HG01109.hp1 HG01884.hp1 HG02148.hp1 HG02886.hp2	a0001 a0024 a0062 others(1): Show a0001 a0024 a0062 a0101	a0001c0053 a0024c0036 a0024c0136 others(2): Show a0001c0053 a0024c0036 a0024c0136 a0062c0145 a0101c0121	a0001c0053t0001 a0024c0036t0001 a0024c0136t0001 others(2): Show a0001c0053t0001 a0024c0036t0001 a0024c0136t0001 a0062c0145t0001 a0101c0121t0003	a0001c0053t0001g0090 a0024c0036t0001g0128 a0024c0036t0001g0129 others(4): Show a0001c0053t0001g0090 a0024c0036t0001g0128 a0024c0036t0001g0129 a0024c0036t0001g0181 a0024c0136t0001g0183 a0062c0145t0001g0316 a0101c0121t0003g0202	7	362	0.0193	230	c.982 others(247): Show c.9823-755_9823-754insTATAAGTATATATAAGTATATATATACT TATATAAGTATATATATACTTATATAAGTATATATATACTTATATAAGTA TATATATACTTATATAAGTATATATATATAAGTATATATATACGTATATA TATACTTATATAAGTATATATATAAGTATATATATACGTATATATATACT TATATAAGTATATATATACGTATATATACACATACTTATATAAGTATATA TA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATGTGTA others(223): Show TATGTGTATATACATATATACATATACACATATGTGTATATATACATATA TACATATACACATATGTGTATATATACATATATACATATACACATATGTG TATATATAACACATATATACACCTATGTGTATATATAACACATATATACA CCTATGTGTATATATAACACATATATACACCTATGTGTATATATACATAT ATACATATACACATATGTGTATATATAACAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0013 a0001c0014t0013	a0001c0014t0013g0236 a0001c0014t0013g0236	1	376	0.0027	230	c.158 others(249): Show c.1582-2863_1582-2862insGTGTATATACATATATACATATACAC ATATGTGTATATATACATATATACATATACACATATGTGTATATATACAT ATATACATATACACATATGTGTATATATAACACATATATACACCTATGTG TATATATAACACATATATACACCTATGTGTATATATAACACATATATACA CCTATGTGTATATATACATATATACATATACACATATGTGTATATATAAC ACAT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TENM4_chr11_78647829_79446030	79139749	A A	AAAATATA others(223): Show AAAATATATATTATATTTATATAAGTATATAAAATATATATTATATTTAT ATAAGTATATAAAATATATATTATATTTATATAAATATATAATATATATA TTATATTTATATAAATATATAATATATATTATATTTATATAAATATATAA TATATATTATATTTATATAAATATATAATATATTATATTTATATAAATAT ATAATATATTATATTTATATAAATATATAAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02723.hp2 HG02280.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0028 a0001c0001 a0001c0028	a0001c0001t0001 a0001c0028t0060 a0001c0001t0001 a0001c0028t0060	a0001c0001t0001g0022 a0001c0028t0060g0087 a0001c0001t0001g0022 a0001c0028t0060g0087	2	94	0.0213	230	c.-66 others(247): Show c.-66+8960_-66+8961insATTATATATTTATATAAATATAATATAT TATATATTTATATAAATATAATATATTATATATTTATATAAATATAATAT ATATTATATATTTATATAAATATAATATATATTATATATTTATATAAATA TAATATATATATTATATATTTATATAAATATAATATATATTTTATATACT TATATAAATATAATATATATTTTATATACTTATATAAATATAATATATAT TT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar

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