JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CRTC1_chr19_18678680_18787333	18786763	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	274	0.0037	20	c.93 others(31): Show c.9381_*9382insTTTTTTTTTTTTTTTTTTTT	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding		4431		chr19	TogoVar
CRTC3_chr15_90524923_90650345	90567691	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG01074.hp1 others(22): Show HG00099.hp2 HG00597.hp1 HG01074.hp1 HG01074.hp2 HG01515.hp2 HG01517.hp1 HG01975.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02155.hp1 HG02257.hp1 HG02572.hp2 HG02622.hp1 HG03098.hp1 HG03130.hp2 HG03225.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18949.hp1 NA18982.hp1 NA18999.hp1 NA18999.hp2 NA19011.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0007 a0002c0002 others(2): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003 a0006c0011	a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 a0002c0002t0001 a0002c0002t0017 a0002c0002t0022 a0003c0003t0001 a0003c0003t0036 a0006c0011t0043	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0052 others(22): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0175 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0231 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0003g0264 a0001c0007t0001g0206 a0002c0002t0001g0092 a0002c0002t0017g0133 a0002c0002t0022g0107 a0003c0003t0001g0262 a0003c0003t0036g0031 a0006c0011t0043g0083	25	276	0.0906	20	c.232 others(39): Show c.232-25937_232-25918dupTAAATAAATAAATAAATAAA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
CRTC3_chr15_90524923_90650345	90630756	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0068 a0002c0002t0003g0068	1	276	0.0036	20	c.126 others(39): Show c.1266+1237_1266+1256dupTTTTTTTTTTTTTTTTTTTT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
CRY1_chr12_106986364_107098549	107009563	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0011 a0001c0002t0012g0011	1	320	0.0031	20	c.268 others(37): Show c.268-4335_268-4316dupATATATATATATATATATAT	CRY1	ENSG00000008405.12	transcript	ENST00000008527.10	protein_coding	2/12			chr12	TogoVar
CRY1_chr12_106986364_107098549	107062033	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAGAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02922.hp2 HG02683.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0269 a0001c0002t0003g0208 a0001c0001t0002g0269 a0001c0002t0003g0208	2	320	0.0063	20	c.158 others(39): Show c.158+30751_158+30770dupCTTTTTTTCTTTTTTTTTTT	CRY1	ENSG00000008405.12	transcript	ENST00000008527.10	protein_coding	1/12			chr12	TogoVar
CRYBA4_chr22_26616963_26635669	26627334	C C	CCCCTCCC others(13): Show CCCCTCCCTCCCTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01258.hp1 HG03704.hp1 others(7): Show HG00408.hp2 HG01258.hp1 HG03704.hp1 NA18941.hp1 NA18990.hp1 NA19005.hp1 NA19068.hp1 NA19075.hp2 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0190 a0001c0001t0001g0220 others(5): Show a0001c0001t0001g0026 a0001c0001t0001g0190 a0001c0001t0001g0220 a0001c0001t0001g0232 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0001g0255	10	402	0.0249	20	c.301 others(35): Show c.301-947_301-928dupCTCCCTCCCTCCCTCCCTCC	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(13): Show CCCTCCCTCCCTCCCTCCTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02486.hp1 HG02738.hp2 others(1): Show HG01169.hp1 HG02486.hp1 HG02738.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 others(1): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0289	4	402	0.0100	20	c.301 others(35): Show c.301-928_301-927insCTCCCTCCCTCCCTCCTTTC	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(13): Show CCCTCCCTCCCTCCCTTCTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp2 HG02818.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0076 a0001c0001t0001g0077	2	402	0.0050	20	c.301 others(35): Show c.301-928_301-927insCTCCCTCCCTCCCTTCTTTC	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(13): Show CCCTCCCTCCCTCCTTCCTTT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19084.hp1 NA18951.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0081 a0001c0001t0001g0082	2	402	0.0050	20	c.301 others(35): Show c.301-928_301-927insCTCCCTCCCTCCTTCCTTTC	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(13): Show CCCTCCCTCCCTCCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	402	0.0025	20	c.301 others(35): Show c.301-928_301-927insCTCCCTCCCTCCTTTCTTTC	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(13): Show CCCTCCCTCCCTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	402	0.0025	20	c.301 others(35): Show c.301-928_301-927insCTCCCTCCCTTCTTTCTTTC	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(13): Show CCCTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	402	0.0025	20	c.301 others(35): Show c.301-928_301-927insCTCCTTTCTTTCTTTCTTTC	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(13): Show GAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19030.hp1 NA19003.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0158 a0002c0003t0001g0140 a0001c0002t0001g0158 a0002c0003t0001g0140	2	464	0.0043	20	c.-91 others(29): Show c.-914_-913insAAGAAAGAAAGAAAGAAAGA	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		859		chr22	TogoVar
CRYBB2_chr22_25214639_25236869	25218779	G G	GAGAGAGA others(13): Show GAGAGAGAGAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	464	0.0022	20	c.-91 others(29): Show c.-914_-913insAGAGAGAGAAGAAAGAAAGA	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		859		chr22	TogoVar
CRYBB2_chr22_25214639_25236869	25218820	A A	AAGAGAAA others(13): Show AAGAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01346.hp1 HG03017.hp2 HG01255.hp2 HG01346.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0197 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0197	3	464	0.0065	20	c.-87 others(29): Show c.-873_-872insAGAGAAAGAAAGAAAGAAAG	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		818		chr22	TogoVar
CRYBB2_chr22_25214639_25236869	25218847	A A	AGAAAGAA others(13): Show AGAAAGAAAGAGAAAGAAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01496.hp2 HG02132.hp1 others(26): Show HG01243.hp2 HG01496.hp2 HG02132.hp1 HG02970.hp2 HG02976.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp1 HG03831.hp2 NA18939.hp1 NA18943.hp2 NA18944.hp2 NA18949.hp1 NA18963.hp1 NA18966.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18990.hp1 NA18994.hp1 NA18997.hp1 NA19005.hp1 NA19006.hp2 NA19056.hp2 NA19077.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0034 others(15): Show a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0175 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0170 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0193	29	464	0.0625	20	c.-84 others(29): Show c.-846_-845insGAAAGAAAGAGAAAGAAAGG	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		791		chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106377621	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02723.hp2 HG03098.hp2 HG02258.hp1 HG02723.hp2 HG03098.hp2	a0015 a0057 a0063 a0015 a0057 a0063	a0015c0018 a0057c0034 a0063c0075 a0015c0018 a0057c0034 a0063c0075	a0015c0018t0002 a0057c0034t0007 a0063c0075t0001 a0015c0018t0002 a0057c0034t0007 a0063c0075t0001	a0015c0018t0002g0222 a0057c0034t0007g0240 a0063c0075t0001g0237 a0015c0018t0002g0222 a0057c0034t0007g0240 a0063c0075t0001g0237	3	272	0.0110	20	c.173 others(39): Show c.173+16548_173+16567dupATATATATATATATATATAT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106422321	G G	GTTATTTA others(13): Show GTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01243.hp2 HG01891.hp2 others(21): Show HG01169.hp1 HG01243.hp2 HG01891.hp2 HG02055.hp2 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18906.hp1 NA19043.hp2	a0002 a0005 a0007 others(15): Show a0002 a0005 a0007 a0013 a0015 a0017 a0018 a0022 a0034 a0035 a0036 a0041 a0052 a0054 a0060 a0062 a0063 a0064	a0002c0003 a0005c0006 a0007c0007 others(15): Show a0002c0003 a0005c0006 a0007c0007 a0013c0016 a0015c0018 a0017c0019 a0018c0044 a0022c0061 a0034c0052 a0035c0051 a0036c0050 a0041c0054 a0052c0030 a0054c0029 a0060c0072 a0062c0074 a0063c0075 a0064c0076	a0002c0003t0006 a0005c0006t0008 a0007c0007t0003 others(16): Show a0002c0003t0006 a0005c0006t0008 a0007c0007t0003 a0007c0007t0004 a0013c0016t0001 a0015c0018t0002 a0017c0019t0001 a0018c0044t0001 a0022c0061t0001 a0034c0052t0001 a0035c0051t0016 a0036c0050t0003 a0041c0054t0008 a0052c0030t0003 a0054c0029t0001 a0060c0072t0001 a0062c0074t0002 a0063c0075t0001 a0064c0076t0003	a0002c0003t0006g0052 a0005c0006t0008g0185 a0005c0006t0008g0243 others(21): Show a0002c0003t0006g0052 a0005c0006t0008g0185 a0005c0006t0008g0243 a0005c0006t0008g0269 a0007c0007t0003g0210 a0007c0007t0003g0229 a0007c0007t0004g0188 a0013c0016t0001g0264 a0015c0018t0002g0222 a0015c0018t0002g0263 a0015c0018t0002g0268 a0017c0019t0001g0070 a0018c0044t0001g0027 a0022c0061t0001g0096 a0034c0052t0001g0186 a0035c0051t0016g0225 a0036c0050t0003g0190 a0041c0054t0008g0196 a0052c0030t0003g0246 a0054c0029t0001g0244 a0060c0072t0001g0254 a0062c0074t0002g0236 a0063c0075t0001g0237 a0064c0076t0003g0251	24	272	0.0882	20	c.174 others(39): Show c.174-29366_174-29347dupATTTATTTATTTATTTATTT	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(13): Show ATTTATTTATTTATTTATTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01891.hp1 HG02145.hp2 HG01070.hp1 HG01891.hp1 HG02145.hp2	a0007 a0008 a0031 a0007 a0008 a0031	a0007c0007 a0008c0010 a0031c0048 a0007c0007 a0008c0010 a0031c0048	a0007c0007t0012 a0008c0010t0004 a0031c0048t0001 a0007c0007t0012 a0008c0010t0004 a0031c0048t0001	a0007c0007t0012g0158 a0008c0010t0004g0178 a0031c0048t0001g0189 a0007c0007t0012g0158 a0008c0010t0004g0178 a0031c0048t0001g0189	3	272	0.0110	20	c.174 others(39): Show c.174-29347_174-29346insATTTATTTATTTATTTTTTT	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(13): Show ATTTATTTATTTATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00733.hp1 others(54): Show HG00438.hp1 HG00597.hp1 HG00733.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01175.hp2 HG01255.hp2 HG01496.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG02109.hp2 HG02132.hp1 HG02165.hp1 HG02273.hp1 HG02486.hp1 HG02523.hp2 HG02818.hp2 HG02886.hp1 HG03239.hp2 HG03491.hp1 HG03704.hp2 HG04184.hp2 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18963.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp2 NA18993.hp2 NA18998.hp1 NA19010.hp1 NA19012.hp1 NA19057.hp1 NA19063.hp1 NA19080.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0013 a0018 a0019 a0021 a0023 a0033 a0037 a0039 a0046 a0068	a0001c0001 a0001c0009 a0002c0003 others(18): Show a0001c0001 a0001c0009 a0002c0003 a0002c0011 a0003c0002 a0004c0004 a0004c0057 a0005c0006 a0006c0005 a0008c0010 a0010c0013 a0013c0016 a0018c0037 a0019c0020 a0021c0026 a0023c0025 a0033c0046 a0037c0059 a0039c0056 a0046c0064 a0068c0078	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0009t0001 a0002c0003t0002 a0002c0003t0006 a0002c0003t0010 a0002c0011t0003 a0003c0002t0001 a0003c0002t0005 a0004c0004t0002 a0004c0057t0002 a0005c0006t0003 a0006c0005t0001 a0008c0010t0005 a0010c0013t0009 a0013c0016t0001 a0018c0037t0001 a0019c0020t0007 a0021c0026t0001 a0023c0025t0002 a0033c0046t0004 a0037c0059t0002 a0039c0056t0002 a0046c0064t0001 a0068c0078t0002	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0020 others(54): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0108 a0001c0001t0001g0121 a0001c0001t0001g0184 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0003g0077 a0001c0001t0005g0092 a0001c0001t0005g0098 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0001t0005g0135 a0001c0009t0001g0172 a0002c0003t0002g0099 a0002c0003t0006g0045 a0002c0003t0006g0128 a0002c0003t0006g0134 a0002c0003t0010g0234 a0002c0011t0003g0057 a0003c0002t0001g0029 a0003c0002t0001g0037 a0003c0002t0001g0194 a0003c0002t0005g0005 a0003c0002t0005g0132 a0003c0002t0005g0150 a0003c0002t0005g0153 a0003c0002t0005g0154 a0003c0002t0005g0162 a0003c0002t0005g0199 a0004c0004t0002g0017 a0004c0004t0002g0069 a0004c0004t0002g0114 a0004c0004t0002g0176 a0004c0004t0002g0181 a0004c0004t0002g0195 a0004c0004t0002g0208 a0004c0004t0002g0218 a0004c0004t0002g0219 a0004c0057t0002g0171 a0005c0006t0003g0079 a0006c0005t0001g0120 a0008c0010t0005g0104 a0010c0013t0009g0049 a0013c0016t0001g0136 a0018c0037t0001g0253 a0019c0020t0007g0097 a0021c0026t0001g0211 a0023c0025t0002g0157 a0033c0046t0004g0155 a0037c0059t0002g0115 a0039c0056t0002g0062 a0046c0064t0001g0010 a0068c0078t0002g0007	57	272	0.2096	20	c.174 others(39): Show c.174-29347_174-29346insATTTATTTATTTTTTTTTTT	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(13): Show ATTTATTTATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG01074.hp1 others(28): Show HG00558.hp2 HG00597.hp2 HG01074.hp1 HG01106.hp2 HG01169.hp2 HG01361.hp1 HG01516.hp2 HG01884.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02559.hp2 HG02602.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG04184.hp1 NA18948.hp2 NA18971.hp2 NA18979.hp1 NA18990.hp1 NA19001.hp1 NA19009.hp1 NA19060.hp1 NA19068.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0009 a0013 a0021 a0038 a0040 a0044 a0050 a0051 a0061 a0066	a0001c0001 a0001c0009 a0002c0003 others(14): Show a0001c0001 a0001c0009 a0002c0003 a0002c0011 a0003c0002 a0004c0004 a0005c0008 a0009c0012 a0013c0016 a0021c0026 a0038c0058 a0040c0065 a0044c0068 a0050c0063 a0051c0035 a0061c0073 a0066c0080	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0009t0001 a0001c0009t0004 a0002c0003t0001 a0002c0003t0006 a0002c0011t0003 a0003c0002t0001 a0003c0002t0005 a0004c0004t0002 a0005c0008t0003 a0009c0012t0002 a0013c0016t0001 a0021c0026t0001 a0038c0058t0002 a0040c0065t0011 a0044c0068t0001 a0050c0063t0001 a0051c0035t0001 a0061c0073t0004 a0066c0080t0001	a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0035 others(28): Show a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0058 a0001c0001t0001g0148 a0001c0001t0001g0173 a0001c0001t0001g0255 a0001c0001t0003g0084 a0001c0001t0004g0125 a0001c0009t0001g0023 a0001c0009t0004g0081 a0002c0003t0001g0123 a0002c0003t0006g0217 a0002c0011t0003g0133 a0003c0002t0001g0014 a0003c0002t0005g0102 a0003c0002t0005g0106 a0004c0004t0002g0142 a0004c0004t0002g0259 a0005c0008t0003g0175 a0005c0008t0003g0203 a0009c0012t0002g0226 a0013c0016t0001g0174 a0021c0026t0001g0156 a0038c0058t0002g0215 a0040c0065t0011g0141 a0044c0068t0001g0159 a0050c0063t0001g0271 a0051c0035t0001g0250 a0061c0073t0004g0238 a0066c0080t0001g0009	31	272	0.1140	20	c.174 others(39): Show c.174-29347_174-29346insATTTATTTTTTTTTTTTTTT	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(13): Show ATTTATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18946.hp1 NA18956.hp1 others(1): Show HG02523.hp1 NA18946.hp1 NA18956.hp1 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0022 a0006c0005 a0001c0001 a0001c0022 a0006c0005	a0001c0001t0001 a0001c0022t0002 a0006c0005t0004 a0001c0001t0001 a0001c0022t0002 a0006c0005t0004	a0001c0001t0001g0032 a0001c0001t0001g0105 a0001c0022t0002g0126 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0105 a0001c0022t0002g0126 a0006c0005t0004g0147	4	272	0.0147	20	c.174 others(39): Show c.174-29347_174-29346insATTTTTTTTTTTTTTTTTTT	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(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0011	1	272	0.0037	20	c.174 others(37): Show c.174-4140_174-4121dupATATATATATATATATATAT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG3_chr3_97817011_97949984	97946586	G G	GTATATAT others(13): Show GTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0029 a0029	a0029c0053 a0029c0053	a0029c0053t0011 a0029c0053t0011	a0029c0053t0011g0258 a0029c0053t0011g0258	1	316	0.0032	20	c.32 others(31): Show c.3272_*3273insTATATATATATATATATATA	CRYBG3	ENSG00000080200.10	transcript	ENST00000389622.7	protein_coding		1603		chr3	TogoVar
CRYGN_chr7_151423832_151445141	151428290	C C	CTTCTTTT others(13): Show CTTCTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00733.hp1 HG00741.hp1 others(8): Show HG00408.hp1 HG00733.hp1 HG00741.hp1 HG01192.hp2 HG02083.hp2 HG02132.hp1 HG02257.hp2 HG02559.hp1 HG02622.hp2 NA19000.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0001c0003t0001	a0001c0001t0002g0004 a0001c0001t0002g0057 a0001c0001t0002g0122 others(3): Show a0001c0001t0002g0004 a0001c0001t0002g0057 a0001c0001t0002g0122 a0001c0001t0004g0032 a0001c0002t0002g0093 a0001c0003t0001g0007	11	452	0.0243	20	c.17 others(31): Show c.1757_*1758insAAAAAAAAAAAAAAAAAGAA	CRYGN	ENSG00000127377.10	transcript	ENST00000337323.3	protein_coding		541		chr7	TogoVar
CRYL1_chr13_20398669_20530857	20466682	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp1 HG02647.hp1 others(2): Show HG01243.hp1 HG02630.hp1 HG02647.hp1 HG02818.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0002t0001 a0001c0005t0001 a0001c0001t0002 a0001c0002t0001 a0001c0005t0001	a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0002t0001g0083 others(2): Show a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0002t0001g0083 a0001c0002t0001g0097 a0001c0005t0001g0081	5	250	0.0200	20	c.276 others(39): Show c.276+22668_276+22687dupCACACACACACACACACACA	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	3/7			chr13	TogoVar
CRYL1_chr13_20398669_20530857	20485685	T T	TAGAAAAG others(13): Show TAGAAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01934.hp1 HG01975.hp1 others(15): Show HG01346.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG02027.hp1 HG02109.hp2 HG02300.hp2 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02976.hp1 NA18943.hp2 NA18974.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp1 NA18995.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0059 a0001c0001t0001g0112 a0001c0001t0001g0118 others(15): Show a0001c0001t0001g0059 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0134 a0001c0001t0001g0163 a0001c0001t0001g0178 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0002g0040 a0001c0001t0002g0062 a0001c0001t0002g0154 a0001c0001t0002g0186 a0001c0001t0002g0198 a0001c0001t0002g0209 a0001c0002t0001g0117 a0001c0002t0001g0148 a0001c0002t0001g0210 a0001c0002t0002g0230	18	250	0.0720	20	c.276 others(37): Show c.276+3665_276+3684dupTTTCTTTTCTTTTCTTTTCT	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	3/7			chr13	TogoVar
CRYZL1_chr21_33584341_33646741	33605530	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02922.hp1 HG03017.hp1 others(5): Show HG01069.hp1 HG02922.hp1 HG03017.hp1 NA18522.hp1 NA18612.hp1 NA18945.hp2 NA18973.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0045 a0001c0001t0001g0211 a0001c0001t0001g0216 others(5): Show a0001c0001t0001g0045 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0002g0012 a0001c0001t0002g0292	8	360	0.0222	20	c.332 others(37): Show c.332-1994_332-1993insAAAAAAAAAAAAAAAAAAAA	CRYZL1	ENSG00000205758.12	transcript	ENST00000381554.8	protein_coding	6/12			chr21	TogoVar
CRYZ_chr1_74700486_74738050	74702963	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0005 a0002c0004t0003g0005	1	372	0.0027	20	c.33 others(31): Show c.3332_*3333insGCACACACACACACACACAC	CRYZ	ENSG00000116791.14	transcript	ENST00000340866.10	protein_coding		2522		chr1	TogoVar
CSAD_chr12_53152663_53185925	53184114	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	334	0.0030	20	c.-34 others(31): Show c.-3493_-3474dupACACACACACACACACACAC	CSAD	ENSG00000139631.20	transcript	ENST00000444623.6	protein_coding		3190		chr12	TogoVar
CSAD_chr12_53152663_53185925	53184150	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGCGCGCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	334	0.0030	20	c.-35 others(31): Show c.-3510_-3509insGCGCGCGCGCACACACACAC	CSAD	ENSG00000139631.20	transcript	ENST00000444623.6	protein_coding		3226		chr12	TogoVar
CSAG1_chrX_152722484_152738721	152729992	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp1 HG01243.hp1 others(11): Show HG00609.hp1 HG00741.hp1 HG01243.hp1 HG02027.hp1 HG02080.hp2 HG02109.hp1 HG02280.hp2 HG02886.hp2 HG03209.hp1 HG03654.hp1 NA18979.hp1 NA19030.hp2 NA19082.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0002 a0003c0003t0003 others(1): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0003 a0003c0003t0004	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0101 others(4): Show a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0101 a0002c0002t0002g0011 a0003c0003t0003g0020 a0003c0003t0003g0046 a0003c0003t0004g0049	14	318	0.0440	20	c.17- others(35): Show c.17-1769_17-1768insTATATATATATATATATATA	CSAG1	ENSG00000198930.13	transcript	ENST00000452779.3	protein_coding	2/3			chrX	TogoVar
CSAG1_chrX_152722484_152738721	152730009	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0030 a0002c0002t0002g0030	2	318	0.0063	20	c.17- others(35): Show c.17-1786_17-1785insGTATATATATATATATATAT	CSAG1	ENSG00000198930.13	transcript	ENST00000452779.3	protein_coding	2/3			chrX	TogoVar
CSAG2_chrX_152703261_152714273	152709605	A A	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	211	0.0047	20	c.-51 others(29): Show c.-513_-494dupCTCTCTCTCTCTCTCTCTCT	CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding		333		chrX	TogoVar
CSAG2_chrX_152703261_152714273	152709629	G G	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	211	0.0047	20	c.-51 others(29): Show c.-518_-517insTTCTCTCTCTCTCTCTCTCT	CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding		357		chrX	TogoVar
CSE1L_chr20_49041312_49101949	49047564	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0362 a0001c0002t0001g0362	1	386	0.0026	20	c.-12 others(37): Show c.-12+1150_-12+1169dupTTTTTTTTTTTTTTTTTTTT	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(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01943.hp2 HG01361.hp1 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0033 a0001c0001t0005g0012 a0001c0001t0002g0033 a0001c0001t0005g0012	2	386	0.0052	20	c.229 others(35): Show c.229-871_229-852dupTTTTTTTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSF1R_chr5_150048295_150091554	150083349	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19043.hp1 HG02280.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0006 a0002c0003t0001 a0001c0001t0006 a0002c0003t0001	a0001c0001t0006g0082 a0002c0003t0001g0179 a0001c0001t0006g0082 a0002c0003t0001g0179	2	406	0.0049	20	c.50- others(35): Show c.50-2345_50-2326dupGTGTGTGTGTGTGTGTGTGT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084343	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG01358.hp2 others(5): Show HG00544.hp1 HG00597.hp1 HG01358.hp2 HG02074.hp1 HG02129.hp1 HG02818.hp2 HG03669.hp1 NA18967.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0015	a0001c0001t0002 a0001c0002t0001 a0001c0002t0018 others(4): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0018 a0001c0005t0003 a0001c0005t0004 a0002c0003t0001 a0003c0015t0003	a0001c0001t0002g0125 a0001c0002t0001g0310 a0001c0002t0018g0139 others(5): Show a0001c0001t0002g0125 a0001c0002t0001g0310 a0001c0002t0018g0139 a0001c0005t0003g0335 a0001c0005t0004g0221 a0002c0003t0001g0304 a0002c0003t0001g0305 a0003c0015t0003g0306	8	406	0.0197	20	c.49+ others(35): Show c.49+2016_49+2035dupCTTTCTTTCTTTCTTTCTTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084343	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAGAG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0254 a0002c0003t0001g0254	1	406	0.0025	20	c.49+ others(35): Show c.49+2035_49+2036insCTCTCTTTCTTTCTTTCTTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084390	A A	AGAAAGAA others(13): Show AGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1 HG02486.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0010 a0001c0001 a0001c0005 a0001c0010	a0001c0001t0006 a0001c0005t0004 a0001c0010t0001 a0001c0001t0006 a0001c0005t0004 a0001c0010t0001	a0001c0001t0006g0237 a0001c0005t0004g0282 a0001c0010t0001g0328 a0001c0001t0006g0237 a0001c0005t0004g0282 a0001c0010t0001g0328	3	406	0.0074	20	c.49+ others(35): Show c.49+1988_49+1989insCTTCTTTCTTTCTTTCTTTC	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150085277	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01167.hp2 HG02129.hp2 others(8): Show HG00438.hp2 HG01167.hp2 HG02129.hp2 HG02559.hp1 HG02970.hp2 NA18960.hp1 NA18968.hp1 NA18969.hp1 NA19055.hp1 NA19086.hp1 NA19087.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0002c0003 others(1): Show a0001c0001 a0001c0005 a0002c0003 a0004c0009	a0001c0001t0002 a0001c0001t0005 a0001c0005t0004 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0005t0004 a0002c0003t0001 a0002c0003t0007 a0004c0009t0008	a0001c0001t0002g0360 a0001c0001t0005g0355 a0001c0001t0005g0359 others(8): Show a0001c0001t0002g0360 a0001c0001t0005g0355 a0001c0001t0005g0359 a0001c0005t0004g0351 a0001c0005t0004g0354 a0001c0005t0004g0358 a0002c0003t0001g0353 a0002c0003t0001g0357 a0002c0003t0001g0361 a0002c0003t0007g0356 a0004c0009t0008g0352	11	406	0.0271	20	c.49+ others(35): Show c.49+1101_49+1102insTTTTTTTTTTTTTTTTTTTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSGALNACT1_chr8_19399161_19762277	19408949	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG01069.hp2 others(9): Show HG00323.hp2 HG00639.hp1 HG01069.hp2 HG01071.hp1 HG01361.hp1 HG01978.hp1 HG02004.hp2 HG02145.hp2 HG02280.hp2 HG03225.hp2 HG03688.hp2 HG03834.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0010c0018	a0001c0001t0002 a0001c0002t0002 a0001c0002t0006 others(7): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0006 a0001c0002t0014 a0001c0002t0032 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0038 a0010c0018t0003	a0001c0001t0002g0163 a0001c0002t0002g0009 a0001c0002t0002g0010 others(9): Show a0001c0001t0002g0163 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0006g0183 a0001c0002t0014g0032 a0001c0002t0032g0227 a0002c0003t0003g0068 a0002c0003t0003g0228 a0002c0003t0004g0033 a0002c0003t0005g0052 a0002c0003t0038g0221 a0010c0018t0003g0039	12	238	0.0504	20	c.122 others(37): Show c.1228-275_1228-256dupGTGTGTGTGTGTGTGTGTGT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	7/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513434	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	238	0.0042	20	c.-29 others(39): Show c.-296-7305_-296-7304insTATATATATATATATATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTAT others(13): Show CTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0016 a0001c0001t0019g0016	1	238	0.0042	20	c.-29 others(39): Show c.-296-7307_-296-7306insTATATATATATATATAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(13): Show CTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18971.hp1 HG02074.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0018 a0001c0001t0001 a0001c0010t0018	a0001c0001t0001g0141 a0001c0010t0018g0191 a0001c0001t0001g0141 a0001c0010t0018g0191	2	238	0.0084	20	c.-29 others(39): Show c.-296-7307_-296-7306insTATATATATATATAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(13): Show CTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	238	0.0042	20	c.-29 others(39): Show c.-296-7307_-296-7306insTATATATATATAGAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18952.hp2 HG04115.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0018 a0001c0001t0001 a0001c0010t0018	a0001c0001t0001g0145 a0001c0010t0018g0026 a0001c0001t0001g0145 a0001c0010t0018g0026	2	238	0.0084	20	c.-29 others(39): Show c.-296-7307_-296-7306insTATATATATAGAGAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03831.hp2 HG02572.hp1 HG03831.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0027 a0001c0001t0001 a0003c0005t0027	a0001c0001t0001g0138 a0003c0005t0027g0229 a0001c0001t0001g0138 a0003c0005t0027g0229	2	238	0.0084	20	c.-29 others(39): Show c.-296-7307_-296-7306insTATATATAGAGAGAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19514475	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02886.hp1 NA19043.hp2 others(2): Show HG02280.hp1 HG02886.hp1 NA19043.hp2 NA19087.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0017 a0002c0003 a0001c0002 a0001c0017 a0002c0003	a0001c0002t0041 a0001c0017t0023 a0002c0003t0004 others(1): Show a0001c0002t0041 a0001c0017t0023 a0002c0003t0004 a0002c0003t0005	a0001c0002t0041g0031 a0001c0017t0023g0011 a0002c0003t0004g0104 others(2): Show a0001c0002t0041g0031 a0001c0017t0023g0011 a0002c0003t0004g0104 a0002c0003t0004g0235 a0002c0003t0005g0018	5	238	0.0210	20	c.-29 others(39): Show c.-296-8365_-296-8346dupTATATATATATATATATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar

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