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
CRTC3_chr15_90524923_90650345	90567691	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	120	0.0083	24	c.232 others(43): Show c.232-25941_232-25918dupTAAATAAATAAATAAATAAATAAA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
CRX_chr19_47816937_47848324	47820134	T T	TGTGTGTG others(17): Show TGTGTGTGCACGCGCGTGAGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01433.hp2 HG02258.hp2 others(5): Show HG00642.hp1 HG01433.hp2 HG02258.hp2 HG02717.hp1 HG03139.hp1 HG03209.hp1 HG03516.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0002c0002t0009	a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 others(5): Show a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0008g0209 a0001c0001t0009g0191 a0002c0002t0009g0206	8	152	0.0526	24	c.-19 others(35): Show c.-1912_-1911insGTGTGTGCACGCGCGTGAGTGTGC	CRX	ENSG00000105392.17	transcript	ENST00000221996.12	protein_coding		1802		chr19	TogoVar
CRX_chr19_47816937_47848324	47820134	T T	TGTGTGTG others(17): Show TGTGTGTGCACGCGCGTGCGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG03098.hp2 HG00741.hp1 HG03098.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0005 a0004c0004t0002 a0001c0001t0005 a0004c0004t0002	a0001c0001t0005g0099 a0004c0004t0002g0114 a0001c0001t0005g0099 a0004c0004t0002g0114	2	146	0.0137	24	c.-19 others(35): Show c.-1912_-1911insGTGTGTGCACGCGCGTGCGTGTGC	CRX	ENSG00000105392.17	transcript	ENST00000221996.12	protein_coding		1802		chr19	TogoVar
CRX_chr19_47816937_47848324	47839141	G G	GGTATGAT others(17): Show GGTATGATTGGATGGATAGATGGAT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0152 a0001c0001t0032g0152	1	342	0.0029	24	c.253 others(39): Show c.253-177_253-154dupTATGATTGGATGGATAGATGGATG	CRX	ENSG00000105392.17	transcript	ENST00000221996.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRYBA4_chr22_26616963_26635669	26627334	C C	CCCCTCCC others(17): Show CCCCTCCCTCCCTCCCTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp2 HG01257.hp2 others(9): Show HG00741.hp1 HG01074.hp2 HG01257.hp2 HG01952.hp2 HG02004.hp1 HG02293.hp2 HG02896.hp2 HG03195.hp1 NA18948.hp2 NA18966.hp1 NA19063.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0049 a0001c0001t0001g0184 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0049 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187	12	300	0.0400	24	c.301 others(39): Show c.301-951_301-928dupCTCCCTCCCTCCCTCCCTCCCTCC	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBA4_chr22_26616963_26635669	26627359	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	303	0.0033	24	c.301 others(39): Show c.301-928_301-927insCTCCCTCCCTCCCTCCCTCCCTTC	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBA4_chr22_26616963_26635669	26627359	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTCCCTCCCTTCTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	303	0.0033	24	c.301 others(39): Show c.301-928_301-927insCTCCCTCCCTCCCTCCCTTCTTTC	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBA4_chr22_26616963_26635669	26627359	C C	CCCTCCCT others(17): Show CCCTCCCTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG03688.hp2 HG02273.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0081 a0001c0003t0001g0152 a0001c0001t0001g0081 a0001c0003t0001g0152	2	304	0.0066	24	c.301 others(39): Show c.301-928_301-927insCTCCCTCCTTTCTTTCTTTCTTTC	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBA4_chr22_26616963_26635669	26627359	C C	CCCTCCTT others(17): Show CCCTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	303	0.0033	24	c.301 others(39): Show c.301-928_301-927insCTCCTTTCTTTCTTTCTTTCTTTC	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBB2_chr22_25214639_25236869	25218779	G G	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	167	0.0060	24	c.-91 others(33): Show c.-914_-913insAAGAAAGAAAGAAAGAAAGAAAGA	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		859		chr22	TogoVar
CRYBB2_chr22_25214639_25236869	25218820	A A	AAGAAAGA others(17): Show AAGAAAGAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	355	0.0028	24	c.-87 others(33): Show c.-873_-872insAGAAAGAGAAAGAAAGAAAGAAAG	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		818		chr22	TogoVar
CRYBB3_chr22_25194858_25212359	25207646	C C	CCCATTCA others(17): Show CCCATTCACCCACTCATGTGCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	452	0.0022	24	c.43 others(33): Show c.434_*435insCCATTCACCCACTCATGTGCCCAT	CRYBB3	ENSG00000100053.10	transcript	ENST00000215855.7	protein_coding		288		chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106377621	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03453.hp2 HG01243.hp2 HG03453.hp2	a0024 a0027 a0024 a0027	a0024c0026 a0027c0072 a0024c0026 a0027c0072	a0024c0026t0001 a0027c0072t0001 a0024c0026t0001 a0027c0072t0001	a0024c0026t0001g0147 a0027c0072t0001g0239 a0024c0026t0001g0147 a0027c0072t0001g0239	2	221	0.0090	24	c.173 others(43): Show c.173+16544_173+16567dupATATATATATATATATATATATAT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106422344	A A	ATTTATTT others(17): Show ATTTATTTATTTATTTATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0047 a0002c0003t0006g0048 a0002c0003t0006g0047 a0002c0003t0006g0048	2	101	0.0198	24	c.174 others(43): Show c.174-29347_174-29346insATTTATTTATTTATTTTTTTTTTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106422344	A A	ATTTATTT others(17): Show ATTTATTTATTTATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	100	0.0100	24	c.174 others(43): Show c.174-29347_174-29346insATTTATTTATTTTTTTTTTTTTTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106433729	A A	ATATATAT others(17): Show ATATATATGTATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02976.hp1 HG03453.hp1 others(1): Show HG02630.hp2 HG02976.hp1 HG03453.hp1 HG03486.hp1	a0006 a0007 a0011 a0006 a0007 a0011	a0006c0005 a0007c0007 a0011c0015 a0006c0005 a0007c0007 a0011c0015	a0006c0005t0004 a0007c0007t0003 a0007c0007t0004 others(1): Show a0006c0005t0004 a0007c0007t0003 a0007c0007t0004 a0011c0015t0007	a0006c0005t0004g0248 a0007c0007t0003g0085 a0007c0007t0004g0226 others(1): Show a0006c0005t0004g0248 a0007c0007t0003g0085 a0007c0007t0004g0226 a0011c0015t0007g0236	4	265	0.0151	24	c.174 others(43): Show c.174-17959_174-17958insTGTATATATATATATATGTATATA	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106433731	A A	ATATATGT others(17): Show ATATATGTATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0021 a0021	a0021c0020 a0021c0020	a0021c0020t0007 a0021c0020t0007	a0021c0020t0007g0080 a0021c0020t0007g0080	1	259	0.0039	24	c.174 others(43): Show c.174-17959_174-17958insTGTATATATATATATATGTGTATA	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106447547	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01496.hp1 NA18947.hp1 others(2): Show HG00408.hp1 HG01496.hp1 NA18947.hp1 NA18963.hp2 NA18993.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0009 a0003c0002 others(1): Show a0001c0001 a0001c0009 a0003c0002 a0004c0004	a0001c0001t0001 a0001c0009t0001 a0003c0002t0005 others(1): Show a0001c0001t0001 a0001c0009t0001 a0003c0002t0005 a0004c0004t0002	a0001c0001t0001g0095 a0001c0009t0001g0162 a0003c0002t0005g0029 others(2): Show a0001c0001t0001g0095 a0001c0009t0001g0162 a0003c0002t0005g0029 a0003c0002t0005g0143 a0004c0004t0002g0105	5	35	0.1429	24	c.174 others(41): Show c.174-4144_174-4121dupATATATATATATATATATATATAT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106447570	A A	ATATATAT others(17): Show ATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	270	0.0037	24	c.174 others(41): Show c.174-4121_174-4120insATATATATATATATATATATCTAT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYGN_chr7_151423832_151445141	151428290	C C	CTTCTTTT others(17): Show CTTCTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG04199.hp2 NA18946.hp1 others(4): Show HG02300.hp1 HG04199.hp2 NA18946.hp1 NA18982.hp1 NA19002.hp2 NA19078.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0080 a0001c0001t0002g0004 a0001c0002t0001g0002 others(1): Show a0001c0001t0001g0080 a0001c0001t0002g0004 a0001c0002t0001g0002 a0001c0002t0001g0092	7	194	0.0361	24	c.17 others(35): Show c.1757_*1758insAAAAAAAAAAAAAAAAAAAAAGAA	CRYGN	ENSG00000127377.10	transcript	ENST00000337323.3	protein_coding		541		chr7	TogoVar
CRYL1_chr13_20398669_20530857	20497462	C C	CACCACAC others(17): Show CACCACACACACCACCATACACACA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp2 NA19240.hp1 HG02717.hp1 HG02818.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0090 a0001c0005t0001g0079 a0001c0005t0001g0080 a0001c0002t0001g0090 a0001c0005t0001g0079 a0001c0005t0001g0080	3	248	0.0121	24	c.150 others(41): Show c.150-7967_150-7966insTGTGTGTATGGTGGTGTGTGTGGT	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	2/7			chr13	TogoVar
CRYZL1_chr21_33584341_33646741	33605530	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01099.hp2 HG01516.hp1 others(8): Show HG00741.hp1 HG01099.hp2 HG01516.hp1 HG02602.hp1 HG03098.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 NA18967.hp1 NA18979.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0056 a0001c0001t0001g0166 a0001c0001t0001g0167 others(8): Show a0001c0001t0001g0056 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0218 a0001c0001t0001g0249 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0273 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0005g0347	11	13	0.8462	24	c.332 others(41): Show c.332-1994_332-1993insAAAAAAAAAAAAAAAAAAAAAAAA	CRYZL1	ENSG00000205758.12	transcript	ENST00000381554.8	protein_coding	6/12			chr21	TogoVar
CSAD_chr12_53152663_53185925	53184150	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGCGCGCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	233	0.0043	24	c.-35 others(35): Show c.-3510_-3509insGCGCGCGCGCACACACACACACAC	CSAD	ENSG00000139631.20	transcript	ENST00000444623.6	protein_coding		3226		chr12	TogoVar
CSAD_chr12_53152663_53185925	53184150	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	233	0.0043	24	c.-35 others(35): Show c.-3510_-3509insGCGCACACACACACACACACACAC	CSAD	ENSG00000139631.20	transcript	ENST00000444623.6	protein_coding		3226		chr12	TogoVar
CSAG1_chrX_152722484_152738721	152729992	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG02071.hp1 others(22): Show HG01168.hp1 HG01169.hp2 HG02071.hp1 HG02523.hp1 HG02572.hp1 HG02818.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp1 NA18906.hp1 NA18942.hp1 NA18944.hp1 NA18951.hp1 NA18957.hp1 NA18963.hp1 NA18979.hp2 NA19005.hp1 NA19055.hp1 NA19056.hp1 NA19065.hp2 NA19068.hp1 NA19077.hp1 NA19077.hp2 NA19086.hp1 NA19090.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0002 a0003c0003t0003 a0001c0001t0001 a0002c0002t0002 a0003c0003t0003	a0001c0001t0001g0016 a0001c0001t0001g0089 a0002c0002t0002g0010 others(7): Show a0001c0001t0001g0016 a0001c0001t0001g0089 a0002c0002t0002g0010 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0067 a0002c0002t0002g0072 a0003c0003t0003g0009 a0003c0003t0003g0046 a0003c0003t0003g0048	25	242	0.1033	24	c.17- others(39): Show c.17-1769_17-1768insTATATATATATATATATATATATA	CSAG1	ENSG00000198930.13	transcript	ENST00000452779.3	protein_coding	2/3			chrX	TogoVar
CSAG1_chrX_152722484_152738721	152730009	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01255.hp1 HG01361.hp1 others(23): Show HG00741.hp2 HG01255.hp1 HG01361.hp1 HG01516.hp2 HG02080.hp1 HG02155.hp2 HG02976.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG06807.hp2 NA18906.hp2 NA18943.hp1 NA18969.hp1 NA18984.hp1 NA18990.hp1 NA19002.hp2 NA19012.hp1 NA19054.hp2 NA19060.hp1 NA19064.hp2 NA19070.hp1 NA19078.hp1 NA19083.hp1 NA19084.hp1 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0022 a0002c0002t0002g0027 others(2): Show a0002c0002t0002g0002 a0002c0002t0002g0022 a0002c0002t0002g0027 a0002c0002t0002g0033 a0002c0002t0002g0043	26	235	0.1106	24	c.17- others(39): Show c.17-1786_17-1785insGTATATATATATATATATATATAT	CSAG1	ENSG00000198930.13	transcript	ENST00000452779.3	protein_coding	2/3			chrX	TogoVar
CSAG2_chrX_152703261_152714273	152709629	G G	GAGAGAGA others(17): Show GAGAGAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	168	0.0060	24	c.-51 others(33): Show c.-518_-517insTTCTCTCTCTCTCTCTCTCTCTCT	CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding		357		chrX	TogoVar
CSDC2_chr22_41556010_41581666	41561045	G G	GACACACA others(17): Show GACACACAGACACACACACACACAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0125 a0001c0001t0037g0125	1	173	0.0058	24	c.-25 others(33): Show c.-255_-254insGACACACACACACACACACACACA	CSDC2	ENSG00000172346.15	transcript	ENST00000306149.12	protein_coding	1/4	10913	INFO_REALIGN_3_PRIME	chr22	TogoVar
CSE1L_chr20_49041312_49101949	49047564	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0364 a0001c0001t0001g0364	1	62	0.0161	24	c.-12 others(41): Show c.-12+1146_-12+1169dupTTTTTTTTTTTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSE1L_chr20_49041312_49101949	49065313	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18964.hp1 NA19076.hp2 others(1): Show HG00609.hp1 NA18964.hp1 NA19076.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0051 a0001c0001t0002g0056 others(1): Show a0001c0001t0002g0043 a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0002g0057	4	259	0.0154	24	c.229 others(39): Show c.229-875_229-852dupTTTTTTTTTTTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSF1R_chr5_150048295_150091554	150084343	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02523.hp1 others(5): Show HG02258.hp1 HG02258.hp2 HG02523.hp1 HG04228.hp1 NA18522.hp2 NA18967.hp1 NA19011.hp1 NA19091.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0004c0009 a0008c0016	a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0002t0001 a0002c0003t0001 a0004c0009t0008 a0008c0016t0004	a0001c0001t0003g0113 a0001c0001t0004g0323 a0001c0001t0013g0322 others(5): Show a0001c0001t0003g0113 a0001c0001t0004g0323 a0001c0001t0013g0322 a0001c0002t0001g0112 a0002c0003t0001g0275 a0004c0009t0008g0194 a0004c0009t0008g0274 a0008c0016t0004g0276	8	301	0.0266	24	c.49+ others(39): Show c.49+2012_49+2035dupCTTTCTTTCTTTCTTTCTTTCTTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084390	A A	AGAAAGAA others(17): Show AGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp2 HG02074.hp2 others(1): Show HG01081.hp2 HG02055.hp2 HG02074.hp2 HG02683.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0004 a0001c0005t0001 a0002c0003t0001 others(1): Show a0001c0001t0004 a0001c0005t0001 a0002c0003t0001 a0002c0003t0005	a0001c0001t0004g0162 a0001c0005t0001g0292 a0002c0003t0001g0287 others(1): Show a0001c0001t0004g0162 a0001c0005t0001g0292 a0002c0003t0001g0287 a0002c0003t0005g0339	4	308	0.0130	24	c.49+ others(39): Show c.49+1988_49+1989insCTTCTTTCTTTCTTTCTTTCTTTC	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084390	A A	AGAAAGAA others(17): Show AGAAAGAAAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03654.hp2 NA19055.hp1 HG03492.hp2 HG03654.hp2 NA19055.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0004 a0002c0003t0002 a0001c0005t0004 a0002c0003t0002	a0001c0005t0004g0257 a0001c0005t0004g0351 a0002c0003t0002g0302 a0001c0005t0004g0257 a0001c0005t0004g0351 a0002c0003t0002g0302	3	307	0.0098	24	c.49+ others(39): Show c.49+1988_49+1989insCTTCCTTCTTTCTTTCTTTCTTTC	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF2RA_chrX_1263814_1314935	1280910	T T	TCTCCTCC others(17): Show TCTCCTCCTCCTCCTCCTTCTCCTC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0148 a0002c0003t0001g0148	1	152	0.0066	24	c.-26 others(41): Show c.-26-1756_-26-1733dupCCTCCTTCTCCTCCTCCTCCTCCT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSGALNACT1_chr8_19399161_19762277	19408949	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp1 HG00738.hp2 others(13): Show HG00408.hp1 HG00673.hp1 HG00738.hp2 HG01074.hp2 HG01192.hp2 HG01934.hp1 HG02486.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02735.hp1 HG03516.hp1 HG03516.hp2 HG03831.hp1 NA19087.hp1 NA20805.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0002 a0001c0006 a0002c0003 others(1): Show a0001c0002 a0001c0006 a0002c0003 a0011c0020	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 others(9): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0043 a0001c0006t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0009 a0002c0003t0015 a0002c0003t0029 a0002c0003t0034 a0011c0020t0030	a0001c0002t0002g0008 a0001c0002t0002g0067 a0001c0002t0002g0234 others(13): Show a0001c0002t0002g0008 a0001c0002t0002g0067 a0001c0002t0002g0234 a0001c0002t0003g0098 a0001c0002t0004g0038 a0001c0002t0043g0097 a0001c0006t0002g0136 a0002c0003t0003g0109 a0002c0003t0004g0006 a0002c0003t0004g0014 a0002c0003t0004g0104 a0002c0003t0009g0168 a0002c0003t0015g0133 a0002c0003t0029g0170 a0002c0003t0034g0054 a0011c0020t0030g0182	16	91	0.1758	24	c.122 others(41): Show c.1228-279_1228-256dupGTGTGTGTGTGTGTGTGTGTGTGT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	7/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19485759	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0117 a0001c0002t0004g0117	1	42	0.0238	24	c.634 others(43): Show c.634+19418_634+19441dupAAAAAAAAAAAAAAAAAAAAAAAA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(17): Show CTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	100	0.0100	24	c.-29 others(43): Show c.-296-7307_-296-7306insTATATATATATATATATAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(17): Show CTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp2 HG01071.hp1 HG00639.hp1 HG01069.hp2 HG01071.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0004 a0001c0002t0002 a0002c0003t0004	a0001c0002t0002g0009 a0001c0002t0002g0010 a0002c0003t0004g0033 a0001c0002t0002g0009 a0001c0002t0002g0010 a0002c0003t0004g0033	3	102	0.0294	24	c.-29 others(43): Show c.-296-7307_-296-7306insTATATATATATATATAGAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA19057.hp1 NA18993.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0021 a0001c0001t0002g0059 a0001c0001t0001g0021 a0001c0001t0002g0059	2	101	0.0198	24	c.-29 others(43): Show c.-296-7307_-296-7306insTATATATATATATAGAGAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	100	0.0100	24	c.-29 others(43): Show c.-296-7307_-296-7306insTATATATATATAGAGAGAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19514475	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18988.hp1 HG02735.hp1 NA18988.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0009 a0002c0003 a0004c0009	a0002c0003t0029 a0004c0009t0012 a0002c0003t0029 a0004c0009t0012	a0002c0003t0029g0170 a0004c0009t0012g0070 a0002c0003t0029g0170 a0004c0009t0012g0070	2	45	0.0444	24	c.-29 others(43): Show c.-296-8369_-296-8346dupTATATATATATATATATATATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19514495	A A	ATATATAT others(17): Show ATATATATATATACTATATATATAC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0132 a0001c0002t0002g0132	1	236	0.0042	24	c.-29 others(43): Show c.-296-8366_-296-8365insGTATATATATAGTATATATATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19541553	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01257.hp2 HG02074.hp1 others(3): Show HG00438.hp1 HG01257.hp2 HG02074.hp1 HG04115.hp1 NA18977.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0002t0002	a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0002g0205 others(3): Show a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0002g0205 a0001c0001t0002g0217 a0001c0001t0010g0202 a0001c0002t0002g0236	6	79	0.0759	24	c.-29 others(45): Show c.-296-35447_-296-35424dupAAAAAAAAAAAAAAAAAAAAAAAA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19553620	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01192.hp1 HG01361.hp1 others(14): Show HG00673.hp2 HG01192.hp1 HG01361.hp1 HG02258.hp1 HG02559.hp1 HG02630.hp1 HG02886.hp1 HG02922.hp2 HG03669.hp1 HG06807.hp1 NA18906.hp1 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA19056.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0010	a0001c0001 a0001c0002 a0001c0007 others(6): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0002c0004 a0002c0008 a0004c0009 a0008c0018 a0010c0016	a0001c0001t0002 a0001c0002t0002 a0001c0002t0005 others(10): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0005 a0001c0002t0023 a0001c0002t0041 a0001c0007t0039 a0002c0003t0005 a0002c0003t0007 a0002c0004t0012 a0002c0008t0003 a0004c0009t0012 a0008c0018t0003 a0010c0016t0009	a0001c0001t0002g0204 a0001c0001t0002g0223 a0001c0002t0002g0027 others(14): Show a0001c0001t0002g0204 a0001c0001t0002g0223 a0001c0002t0002g0027 a0001c0002t0005g0073 a0001c0002t0005g0074 a0001c0002t0005g0080 a0001c0002t0023g0096 a0001c0002t0041g0031 a0001c0007t0039g0041 a0002c0003t0005g0113 a0002c0003t0007g0128 a0002c0004t0012g0200 a0002c0008t0003g0155 a0002c0008t0003g0156 a0004c0009t0012g0070 a0008c0018t0003g0039 a0010c0016t0009g0161	17	157	0.1083	24	c.-29 others(45): Show c.-296-47491_-296-47490insATATATATATATATATATATATAT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19577401	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0049 a0001c0002t0016g0049	1	218	0.0046	24	c.-29 others(45): Show c.-297+24369_-297+24370insTTTTTTTTTTTTTTTTTTTTTTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19599472	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0028 a0001c0001t0006g0028	1	44	0.0227	24	c.-29 others(43): Show c.-297+2275_-297+2298dupCTTTCTTTCTTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19657239	T T	TGATAAAC others(17): Show TGATAAACTGAAAGATAAACTGAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00738.hp1 HG01099.hp1 others(21): Show HG00673.hp1 HG00738.hp1 HG01099.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp2 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG03195.hp2 HG03669.hp1 NA18941.hp1 NA18953.hp2 NA18968.hp2 NA18984.hp1 NA19054.hp2 NA19056.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0008	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0002c0004 a0004c0009 a0005c0011 a0008c0018	a0001c0001t0001 a0001c0001t0002 a0001c0002t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0007 a0001c0006t0002 a0002c0004t0003 a0004c0009t0003 a0005c0011t0003 a0008c0018t0003	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0023 others(21): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0108 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0160 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0002g0215 a0001c0001t0002g0223 a0001c0002t0007g0142 a0001c0006t0002g0135 a0001c0006t0002g0136 a0002c0004t0003g0020 a0004c0009t0003g0107 a0004c0009t0003g0214 a0005c0011t0003g0180 a0005c0011t0003g0181 a0008c0018t0003g0039	24	94	0.2553	24	c.-39 others(45): Show c.-391-55398_-391-55375dupTTTCAGTTTATCTTTCAGTTTATC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666809	A A	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAAAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	172	0.0058	24	c.-39 others(45): Show c.-391-64945_-391-64944insCTCTCTCTTTCTTTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667016	A A	AAAGAAAG others(17): Show AAAGAAAGAAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	142	0.0070	24	c.-39 others(45): Show c.-391-65152_-391-65151insCCTTCCTTCCTTCCTTTCTTTCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667028	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGGAAAACAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0189 a0001c0002t0007g0189	1	220	0.0045	24	c.-39 others(45): Show c.-391-65164_-391-65163insTTGTTTTCCTTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar

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