Joint Open Genome and Omics Platform (JoGo)

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
CRYBA4_chr22_26616963_26635669	26629734	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19085.hp1 HG03579.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0295 a0001c0001t0001g0100 a0001c0001t0001g0295	2	402	0.0050	16	c.444 others(31): Show c.444-599_444-584dupAAAAAAAAAAAAAAAA	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBB2_chr22_25214639_25236869	25218779	G G	GAAGAAAG others(9): Show GAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG02004.hp1 HG02015.hp1 others(5): Show HG00738.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02135.hp1 HG02738.hp1 NA19043.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0159 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0159 a0001c0002t0001g0003 a0001c0002t0001g0014 a0001c0002t0001g0132	8	464	0.0172	16	c.-91 others(25): Show c.-914_-913insAAGAAAGAAAGAAAGA	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		859		chr22	TogoVar
CRYBB2_chr22_25214639_25236869	25218779	G G	GAGAGAAG others(9): Show GAGAGAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	464	0.0022	16	c.-91 others(25): Show c.-914_-913insAGAGAAGAAAGAAAGA	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		859		chr22	TogoVar
CRYBB2_chr22_25214639_25236869	25218818	G G	GAGAAAGA others(9): Show GAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG02896.hp2 HG01257.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0018 a0001c0001t0001g0025	2	464	0.0043	16	c.-87 others(25): Show c.-875_-874insAGAAAGAAAGAAAGAA	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		820		chr22	TogoVar
CRYBB3_chr22_25194858_25212359	25208959	C C	CTTTGTTT others(9): Show CTTTGTTTGTTTGTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01106.hp2 HG01167.hp2 others(26): Show HG00733.hp1 HG01106.hp2 HG01167.hp2 HG01192.hp2 HG01346.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02451.hp2 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03540.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04204.hp1 NA18941.hp2 NA18984.hp1 NA19079.hp1 NA19088.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0100 a0001c0001t0001g0111 a0002c0002t0001g0009 a0002c0002t0001g0078	29	454	0.0639	16	c.17 others(27): Show c.1747_*1748insTTTGTTTGTTTGTTTG	CRYBB3	ENSG00000100053.10	transcript	ENST00000215855.7	protein_coding		1601		chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106377621	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02818.hp1 HG02895.hp2 others(3): Show HG02055.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG03453.hp1 NA18906.hp2	a0012 a0026 a0064 a0012 a0026 a0064	a0012c0015 a0026c0041 a0064c0076 a0012c0015 a0026c0041 a0064c0076	a0012c0015t0003 a0012c0015t0007 a0026c0041t0003 others(1): Show a0012c0015t0003 a0012c0015t0007 a0026c0041t0003 a0064c0076t0003	a0012c0015t0003g0241 a0012c0015t0003g0242 a0012c0015t0007g0239 others(3): Show a0012c0015t0003g0241 a0012c0015t0003g0242 a0012c0015t0007g0239 a0012c0015t0007g0245 a0026c0041t0003g0093 a0064c0076t0003g0251	6	272	0.0221	16	c.173 others(35): Show c.173+16552_173+16567dupATATATATATATATAT	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(9): Show GTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02622.hp1 others(4): Show HG01884.hp2 HG02055.hp1 HG02622.hp1 HG02922.hp1 HG03471.hp1 NA18522.hp2 NA19240.hp1	a0002 a0007 a0016 others(2): Show a0002 a0007 a0016 a0026 a0059	a0002c0003 a0007c0007 a0016c0023 others(2): Show a0002c0003 a0007c0007 a0016c0023 a0026c0041 a0059c0028	a0002c0003t0003 a0002c0003t0010 a0007c0007t0003 others(3): Show a0002c0003t0003 a0002c0003t0010 a0007c0007t0003 a0016c0023t0001 a0026c0041t0003 a0059c0028t0002	a0002c0003t0003g0223 a0002c0003t0003g0224 a0002c0003t0010g0262 others(4): Show a0002c0003t0003g0223 a0002c0003t0003g0224 a0002c0003t0010g0262 a0007c0007t0003g0266 a0016c0023t0001g0265 a0026c0041t0003g0093 a0059c0028t0002g0091	7	272	0.0257	16	c.174 others(35): Show c.174-29362_174-29347dupATTTATTTATTTATTT	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(9): Show ATTTATTTATTTATTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02280.hp2 HG02451.hp1 others(14): Show HG02056.hp2 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG03225.hp1 HG03471.hp2 HG03540.hp2 HG03669.hp1 NA19005.hp1 NA19080.hp2	a0001 a0003 a0004 others(8): Show a0001 a0003 a0004 a0006 a0007 a0008 a0009 a0014 a0016 a0056 a0058	a0001c0001 a0003c0002 a0004c0004 others(8): Show a0001c0001 a0003c0002 a0004c0004 a0006c0005 a0007c0007 a0008c0010 a0009c0012 a0014c0017 a0016c0039 a0056c0033 a0058c0036	a0001c0001t0001 a0003c0002t0005 a0004c0004t0002 others(8): Show a0001c0001t0001 a0003c0002t0005 a0004c0004t0002 a0006c0005t0004 a0007c0007t0003 a0008c0010t0001 a0009c0012t0002 a0014c0017t0007 a0016c0039t0001 a0056c0033t0002 a0058c0036t0001	a0001c0001t0001g0042 a0001c0001t0001g0061 a0001c0001t0001g0140 others(14): Show a0001c0001t0001g0042 a0001c0001t0001g0061 a0001c0001t0001g0140 a0001c0001t0001g0165 a0003c0002t0005g0177 a0004c0004t0002g0163 a0006c0005t0004g0179 a0006c0005t0004g0187 a0007c0007t0003g0072 a0007c0007t0003g0270 a0008c0010t0001g0021 a0009c0012t0002g0087 a0014c0017t0007g0075 a0014c0017t0007g0169 a0016c0039t0001g0074 a0056c0033t0002g0248 a0058c0036t0001g0247	17	272	0.0625	16	c.174 others(35): Show c.174-29347_174-29346insATTTATTTATTTTTTT	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(9): Show ATTTATTTATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02004.hp1 NA18906.hp2 others(4): Show HG01978.hp2 HG02004.hp1 NA18906.hp2 NA18948.hp1 NA18973.hp1 NA19012.hp2 NA19077.hp2	a0001 a0002 a0012 others(1): Show a0001 a0002 a0012 a0023	a0001c0001 a0002c0011 a0012c0015 others(1): Show a0001c0001 a0002c0011 a0012c0015 a0023c0025	a0001c0001t0001 a0001c0001t0005 a0002c0011t0003 others(2): Show a0001c0001t0001 a0001c0001t0005 a0002c0011t0003 a0012c0015t0007 a0023c0025t0002	a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0005g0022 others(4): Show a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0005g0022 a0002c0011t0003g0002 a0002c0011t0003g0003 a0012c0015t0007g0239 a0023c0025t0002g0137	7	272	0.0257	16	c.174 others(35): Show c.174-29347_174-29346insATTTATTTTTTTTTTT	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(9): Show ATTTATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03098.hp2 HG03225.hp2 others(1): Show HG02273.hp2 HG03098.hp2 HG03225.hp2 HG04199.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0057	a0001c0001 a0002c0003 a0004c0004 others(1): Show a0001c0001 a0002c0003 a0004c0004 a0057c0034	a0001c0001t0003 a0002c0003t0007 a0004c0004t0002 others(1): Show a0001c0001t0003 a0002c0003t0007 a0004c0004t0002 a0057c0034t0007	a0001c0001t0003g0209 a0002c0003t0007g0116 a0004c0004t0002g0110 others(1): Show a0001c0001t0003g0209 a0002c0003t0007g0116 a0004c0004t0002g0110 a0057c0034t0007g0240	4	272	0.0147	16	c.174 others(35): Show c.174-29347_174-29346insATTTTTTTTTTTTTTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106422344	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0094 a0002c0003t0003g0094	1	272	0.0037	16	c.174 others(35): Show c.174-29345_174-29344insTTTTTTTTTTTTTTTT	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(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02559.hp2 NA19068.hp2 HG02165.hp2 HG02559.hp2 NA19068.hp2	a0003 a0004 a0038 a0003 a0004 a0038	a0003c0002 a0004c0004 a0038c0058 a0003c0002 a0004c0004 a0038c0058	a0003c0002t0005 a0004c0004t0002 a0038c0058t0002 a0003c0002t0005 a0004c0004t0002 a0038c0058t0002	a0003c0002t0005g0151 a0004c0004t0002g0142 a0038c0058t0002g0215 a0003c0002t0005g0151 a0004c0004t0002g0142 a0038c0058t0002g0215	3	272	0.0110	16	c.174 others(33): Show c.174-4136_174-4121dupATATATATATATATAT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106483378	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0063 a0063	a0063c0075 a0063c0075	a0063c0075t0001 a0063c0075t0001	a0063c0075t0001g0237 a0063c0075t0001g0237	1	272	0.0037	16	c.313 others(35): Show c.313-28051_313-28050insGTGTGTGTGTATATAT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG2_chr1_26316865_26359130	26332082	C C	CAGATCAC others(9): Show CAGATCACGAGGTCAGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02257.hp1 HG03516.hp2 others(2): Show HG00639.hp2 HG02257.hp1 HG03516.hp2 NA18906.hp1 NA19043.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0002 a0010c0011t0003 a0010c0011t0002 a0010c0011t0003	a0010c0011t0002g0201 a0010c0011t0002g0203 a0010c0011t0003g0202 others(2): Show a0010c0011t0002g0201 a0010c0011t0002g0203 a0010c0011t0003g0202 a0010c0011t0003g0226 a0010c0011t0003g0258	5	376	0.0133	16	c.418 others(33): Show c.4185-480_4185-465dupCCTGACCTCGTGATCT	CRYBG2	ENSG00000176092.17	transcript	ENST00000308182.10	protein_coding	14/19			chr1	TogoVar
CRYBG2_chr1_26316865_26359130	26333014	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02080.hp2 HG02280.hp1 others(1): Show HG01358.hp1 HG02080.hp2 HG02280.hp1 HG02615.hp1	a0002 a0017 a0031 a0002 a0017 a0031	a0002c0002 a0017c0031 a0031c0035 a0002c0002 a0017c0031 a0031c0035	a0002c0002t0001 a0017c0031t0001 a0031c0035t0001 a0002c0002t0001 a0017c0031t0001 a0031c0035t0001	a0002c0002t0001g0152 a0002c0002t0001g0304 a0017c0031t0001g0137 others(1): Show a0002c0002t0001g0152 a0002c0002t0001g0304 a0017c0031t0001g0137 a0031c0035t0001g0139	4	376	0.0106	16	c.418 others(35): Show c.4185-1412_4185-1397dupTTTTTTTTTTTTTTTT	CRYBG2	ENSG00000176092.17	transcript	ENST00000308182.10	protein_coding	14/19			chr1	TogoVar
CRYBG3_chr3_97817011_97949984	97946586	G G	GTATATAT others(9): Show GTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 NA19075.hp2 HG00642.hp1 NA19075.hp2	a0002 a0004 a0002 a0004	a0002c0001 a0004c0005 a0002c0001 a0004c0005	a0002c0001t0001 a0004c0005t0001 a0002c0001t0001 a0004c0005t0001	a0002c0001t0001g0023 a0004c0005t0001g0161 a0002c0001t0001g0023 a0004c0005t0001g0161	2	316	0.0063	16	c.32 others(27): Show c.3272_*3273insTATATATATATATATA	CRYBG3	ENSG00000080200.10	transcript	ENST00000389622.7	protein_coding		1603		chr3	TogoVar
CRYBG3_chr3_97817011_97949984	97946602	A A	ATATATAT others(9): Show ATATATATATATATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0022 a0022	a0022c0044 a0022c0044	a0022c0044t0001 a0022c0044t0001	a0022c0044t0001g0149 a0022c0044t0001g0149	1	316	0.0032	16	c.32 others(27): Show c.3288_*3289insTATATATATATATATC	CRYBG3	ENSG00000080200.10	transcript	ENST00000389622.7	protein_coding		1619		chr3	TogoVar
CRYBG3_chr3_97817011_97949984	97946604	A A	ATATATAT others(9): Show ATATATATATATATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03195.hp1 NA19240.hp2 HG03130.hp1 HG03195.hp1 NA19240.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0133 a0002c0001t0001g0134 a0002c0001t0001g0135 a0002c0001t0001g0133 a0002c0001t0001g0134 a0002c0001t0001g0135	3	316	0.0095	16	c.32 others(27): Show c.3290_*3291insTATATATATATATATC	CRYBG3	ENSG00000080200.10	transcript	ENST00000389622.7	protein_coding		1621		chr3	TogoVar
CRYGN_chr7_151423832_151445141	151428290	C C	CTTCTTTT others(9): Show CTTCTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG02486.hp1 HG02602.hp1 others(3): Show HG01952.hp1 HG02486.hp1 HG02602.hp1 HG02622.hp1 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0071 a0001c0001t0003g0126 a0001c0002t0001g0002 others(2): Show a0001c0001t0003g0071 a0001c0001t0003g0126 a0001c0002t0001g0002 a0001c0002t0001g0019 a0001c0002t0001g0091	6	452	0.0133	16	c.17 others(27): Show c.1757_*1758insAAAAAAAAAAAAAGAA	CRYGN	ENSG00000127377.10	transcript	ENST00000337323.3	protein_coding		541		chr7	TogoVar
CRYGN_chr7_151423832_151445141	151441920	T T	TACACACA others(9): Show TACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA19004.hp2 NA18965.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0028 a0001c0001t0001g0029	2	452	0.0044	16	c.-20 others(27): Show c.-2004_-2003insGTGTGTGTGTGTGTGT	CRYGN	ENSG00000127377.10	transcript	ENST00000337323.3	protein_coding		1780		chr7	TogoVar
CRYL1_chr13_20398669_20530857	20420700	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp1 HG01256.hp1 others(6): Show HG00642.hp2 HG01074.hp1 HG01256.hp1 HG01934.hp2 HG02083.hp2 HG02280.hp2 HG03486.hp2 NA18993.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0052 a0001c0001t0001g0138 a0001c0001t0001g0139 others(6): Show a0001c0001t0001g0052 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0168 a0001c0001t0001g0185 a0001c0002t0001g0103 a0001c0002t0001g0146 a0001c0002t0001g0239	9	250	0.0360	16	c.634 others(33): Show c.634-7314_634-7313insAAAAAAAAAAAAAAAA	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	5/7			chr13	TogoVar
CRYL1_chr13_20398669_20530857	20420701	T T	TTTTTTTT others(9): Show TTTTTTTTTTTTTTGTG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	250	0.0040	16	c.634 others(33): Show c.634-7315_634-7314insCACAAAAAAAAAAAAA	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	5/7			chr13	TogoVar
CRYL1_chr13_20398669_20530857	20466682	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG02717.hp1 others(7): Show HG02145.hp2 HG02257.hp1 HG02717.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 a0001c0005t0001	a0001c0001t0001g0089 a0001c0001t0001g0120 a0001c0001t0002g0070 others(7): Show a0001c0001t0001g0089 a0001c0001t0001g0120 a0001c0001t0002g0070 a0001c0002t0001g0072 a0001c0002t0001g0077 a0001c0002t0002g0075 a0001c0003t0002g0003 a0001c0003t0002g0013 a0001c0003t0002g0014 a0001c0005t0001g0079	10	250	0.0400	16	c.276 others(35): Show c.276+22672_276+22687dupCACACACACACACACA	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	3/7			chr13	TogoVar
CRYL1_chr13_20398669_20530857	20505359	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG00735.hp2 others(14): Show HG00099.hp2 HG00642.hp1 HG00735.hp2 HG02083.hp1 HG02809.hp1 HG03942.hp1 HG04199.hp1 NA18943.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18971.hp1 NA18981.hp2 NA18990.hp2 NA19011.hp1 NA19066.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0054 a0001c0001t0001g0101 a0001c0001t0002g0040 others(14): Show a0001c0001t0001g0054 a0001c0001t0001g0101 a0001c0001t0002g0040 a0001c0001t0002g0055 a0001c0001t0002g0121 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0195 a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0001t0004g0109 a0001c0002t0001g0189 a0001c0002t0002g0176 a0001c0003t0001g0019 a0001c0003t0002g0026 a0001c0003t0002g0044 a0001c0003t0002g0045	17	250	0.0680	16	c.149 others(33): Show c.149+7068_149+7083dupTTTTTTTTTTTTTTTT	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	2/7			chr13	TogoVar
CRYZL1_chr21_33584341_33646741	33605530	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	360	0.0028	16	c.332 others(33): Show c.332-1994_332-1993insAAAAAAAAAAAAAAAA	CRYZL1	ENSG00000205758.12	transcript	ENST00000381554.8	protein_coding	6/12			chr21	TogoVar
CRYZL1_chr21_33584341_33646741	33645255	G G	GTTGAGGT others(9): Show GTTGAGGTGCATTAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0299	1	360	0.0028	16	c.-35 others(27): Show c.-3582_-3581insAATTAATGCACCTCAA	CRYZL1	ENSG00000205758.12	transcript	ENST00000381554.8	protein_coding		3515		chr21	TogoVar
CRYZ_chr1_74700486_74738050	74702929	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA19088.hp2 NA18906.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0001 a0002c0002t0001 a0001c0006t0001 a0002c0002t0001	a0001c0006t0001g0227 a0002c0002t0001g0094 a0001c0006t0001g0227 a0002c0002t0001g0094	2	372	0.0054	16	c.33 others(27): Show c.3366_*3367insACACACACACACACAC	CRYZ	ENSG00000116791.14	transcript	ENST00000340866.10	protein_coding		2556		chr1	TogoVar
CRYZ_chr1_74700486_74738050	74702963	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18957.hp1 NA19043.hp2 NA18943.hp1 NA18957.hp1 NA19043.hp2	a0002 a0002	a0002c0004 a0002c0007 a0002c0004 a0002c0007	a0002c0004t0003 a0002c0007t0003 a0002c0004t0003 a0002c0007t0003	a0002c0004t0003g0229 a0002c0007t0003g0066 a0002c0007t0003g0080 a0002c0004t0003g0229 a0002c0007t0003g0066 a0002c0007t0003g0080	3	372	0.0081	16	c.33 others(27): Show c.3332_*3333insGCGCACACACACACAC	CRYZ	ENSG00000116791.14	transcript	ENST00000340866.10	protein_coding		2522		chr1	TogoVar
CRYZ_chr1_74700486_74738050	74702963	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00738.hp2 HG01070.hp2 others(8): Show HG00140.hp2 HG00738.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG02040.hp2 HG02109.hp1 HG03492.hp2 HG04115.hp1 NA18969.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0004 a0001c0005 a0002c0004	a0001c0005t0003 a0002c0004t0003 a0001c0005t0003 a0002c0004t0003	a0001c0005t0003g0010 a0001c0005t0003g0162 a0002c0004t0003g0020 others(7): Show a0001c0005t0003g0010 a0001c0005t0003g0162 a0002c0004t0003g0020 a0002c0004t0003g0042 a0002c0004t0003g0247 a0002c0004t0003g0248 a0002c0004t0003g0253 a0002c0004t0003g0258 a0002c0004t0003g0262 a0002c0004t0003g0266	11	372	0.0296	16	c.33 others(27): Show c.3332_*3333insGCACACACACACACAC	CRYZ	ENSG00000116791.14	transcript	ENST00000340866.10	protein_coding		2522		chr1	TogoVar
CSAD_chr12_53152663_53185925	53163984	G G	GTTGTAAG others(9): Show GTTGTAAGACATTTTAT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0073 a0001c0002t0006g0073	1	334	0.0030	16	c.703 others(33): Show c.703-2596_703-2595insATAAAATGTCTTACAA	CSAD	ENSG00000139631.20	transcript	ENST00000444623.6	protein_coding	10/16			chr12	TogoVar
CSAD_chr12_53152663_53185925	53184112	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	16	c.-34 others(27): Show c.-3472_-3471insACACACACACACACAC	CSAD	ENSG00000139631.20	transcript	ENST00000444623.6	protein_coding		3188		chr12	TogoVar
CSAD_chr12_53152663_53185925	53184150	T T	TGTGTGTG others(9): Show TGTGTGTGTGCGCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	334	0.0030	16	c.-35 others(27): Show c.-3510_-3509insGCGCGCGCACACACAC	CSAD	ENSG00000139631.20	transcript	ENST00000444623.6	protein_coding		3226		chr12	TogoVar
CSAG1_chrX_152722484_152738721	152729992	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG02622.hp1 others(7): Show HG01884.hp1 HG02486.hp1 HG02622.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03139.hp1 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0093 a0001c0001t0001g0100 a0001c0001t0001g0008 a0001c0001t0001g0093 a0001c0001t0001g0100	10	318	0.0315	16	c.17- others(31): Show c.17-1784_17-1769dupTATATATATATATATA	CSAG1	ENSG00000198930.13	transcript	ENST00000452779.3	protein_coding	2/3			chrX	TogoVar
CSAG1_chrX_152722484_152738721	152730009	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0053 a0002c0002t0002g0053	1	318	0.0031	16	c.17- others(31): Show c.17-1786_17-1785insGTATATATATATATAT	CSAG1	ENSG00000198930.13	transcript	ENST00000452779.3	protein_coding	2/3			chrX	TogoVar
CSAG2_chrX_152703261_152714273	152709605	A A	AAGAGAGA others(9): Show AAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01346.hp1 HG02071.hp1 others(1): Show HG01168.hp1 HG01346.hp1 HG02071.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0002g0006 a0001c0001t0011g0024 a0001c0001t0001g0001 a0001c0001t0002g0006 a0001c0001t0011g0024	4	211	0.0190	16	c.-50 others(25): Show c.-509_-494dupCTCTCTCTCTCTCTCT	CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding		333		chrX	TogoVar
CSAG2_chrX_152703261_152714273	152709629	G G	GAGAGAGA others(9): Show GAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG03130.hp1 HG03486.hp1 HG02015.hp1 HG03130.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	211	0.0142	16	c.-51 others(25): Show c.-518_-517insTTCTCTCTCTCTCTCT	CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding		357		chrX	TogoVar
CSAG2_chrX_152703261_152714273	152710821	G G	GAGATATA others(9): Show GAGATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	211	0.0047	16	c.-17 others(27): Show c.-1710_-1709insATATATATATATATCT	CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding		1549		chrX	TogoVar
CSDC2_chr22_41556010_41581666	41561045	G G	GACACACA others(9): Show GACACACACACACACAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02602.hp2 HG02630.hp2 HG03491.hp2 others(1): Show HG02602.hp2 HG02630.hp2 HG03491.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0034 a0001c0001t0023 a0001c0001t0034	a0001c0001t0023g0058 a0001c0001t0023g0059 a0001c0001t0023g0062 others(1): Show a0001c0001t0023g0058 a0001c0001t0023g0059 a0001c0001t0023g0062 a0001c0001t0034g0188	4	288	0.0139	16	c.-24 others(25): Show c.-240_-225dupCACACACACACACACA	CSDC2	ENSG00000172346.15	transcript	ENST00000306149.12	protein_coding	1/4	10883	INFO_REALIGN_3_PRIME	chr22	TogoVar
CSDC2_chr22_41556010_41581666	41568134	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp1 HG02970.hp2 others(2): Show HG02257.hp2 HG02622.hp1 HG02970.hp2 HG03209.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0013 a0001c0001t0011g0084 a0001c0001t0011g0085 a0001c0001t0011g0013 a0001c0001t0011g0084 a0001c0001t0011g0085	5	288	0.0174	16	c.-12 others(35): Show c.-123-3701_-123-3700insTTTTTTTTTTTTTTTT	CSDC2	ENSG00000172346.15	transcript	ENST00000306149.12	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
CSE1L_chr20_49041312_49101949	49047564	C C	CTTTTTTT others(9): Show CTTTTTTTTTTCTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0322 a0001c0002t0001g0322	1	386	0.0026	16	c.-12 others(33): Show c.-12+1151_-12+1152insCTTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSE1L_chr20_49041312_49101949	49047564	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01358.hp1 HG02738.hp1 others(6): Show HG01175.hp1 HG01358.hp1 HG02738.hp1 HG02895.hp2 HG02897.hp2 HG03704.hp1 NA18945.hp2 NA18969.hp2 NA19054.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0005 a0001c0002 a0005c0005	a0001c0002t0001 a0005c0005t0001 a0001c0002t0001 a0005c0005t0001	a0001c0002t0001g0240 a0001c0002t0001g0349 a0001c0002t0001g0350 others(6): Show a0001c0002t0001g0240 a0001c0002t0001g0349 a0001c0002t0001g0350 a0001c0002t0001g0351 a0001c0002t0001g0352 a0001c0002t0001g0353 a0001c0002t0001g0354 a0001c0002t0001g0355 a0005c0005t0001g0239	9	386	0.0233	16	c.-12 others(33): Show c.-12+1154_-12+1169dupTTTTTTTTTTTTTTTT	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(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0083 a0001c0007t0002g0083	1	386	0.0026	16	c.229 others(31): Show c.229-867_229-852dupTTTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSE1L_chr20_49041312_49101949	49097938	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	386	0.0026	16	c.15 others(27): Show c.1500_*1501insTTTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding		990		chr20	TogoVar
CSE1L_chr20_49041312_49101949	49100508	T T	TTTATTTA others(9): Show TTTATTTATTTATTTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	386	0.0026	16	c.40 others(27): Show c.4070_*4071insTTATTTATTTATTTAC	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding		3560		chr20	TogoVar
CSF1R_chr5_150048295_150091554	150048400	T T	TTGCTTAC others(9): Show TTGCTTACCTGTACCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00597.hp2 others(98): Show HG00099.hp1 HG00544.hp1 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 NA18522.hp1 NA18906.hp2 NA18957.hp1 NA18961.hp2 NA18964.hp2 NA18971.hp2 NA18975.hp2 NA18982.hp1 NA19000.hp2 NA19012.hp1 NA19030.hp2 NA19065.hp1 NA19068.hp2 NA19079.hp2 NA19081.hp2 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0007 a0009 a0010	a0001c0001 a0001c0002 a0001c0004 others(12): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0002c0003 a0002c0008 a0002c0013 a0002c0017 a0003c0007 a0003c0014 a0006c0011 a0007c0026 a0009c0023 a0010c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0004t0003 a0001c0004t0005 a0001c0004t0006 a0001c0004t0014 a0001c0004t0022 a0001c0005t0003 a0001c0005t0004 a0001c0005t0005 a0001c0006t0001 a0001c0006t0003 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0008t0001 a0002c0013t0003 a0002c0017t0004 a0002c0017t0006 a0003c0007t0001 a0003c0007t0006 a0003c0014t0012 a0006c0011t0006 a0007c0026t0006 a0009c0023t0003 a0010c0027t0006	a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0002g0065 others(97): Show a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0002g0065 a0001c0001t0003g0060 a0001c0001t0004g0066 a0001c0001t0004g0227 a0001c0001t0004g0302 a0001c0001t0005g0080 a0001c0001t0005g0085 a0001c0001t0005g0286 a0001c0001t0005g0291 a0001c0001t0005g0313 a0001c0001t0005g0355 a0001c0001t0005g0368 a0001c0001t0005g0371 a0001c0001t0005g0380 a0001c0001t0006g0016 a0001c0001t0006g0053 a0001c0001t0006g0082 a0001c0001t0006g0104 a0001c0001t0006g0131 a0001c0001t0006g0201 a0001c0001t0006g0237 a0001c0001t0009g0229 a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0001t0009g0233 a0001c0001t0009g0234 a0001c0001t0009g0369 a0001c0001t0009g0370 a0001c0001t0009g0372 a0001c0001t0009g0373 a0001c0001t0009g0374 a0001c0001t0012g0334 a0001c0001t0014g0090 a0001c0002t0001g0108 a0001c0002t0001g0387 a0001c0002t0003g0118 a0001c0002t0003g0133 a0001c0002t0003g0157 a0001c0002t0003g0210 a0001c0002t0003g0218 a0001c0004t0003g0038 a0001c0004t0003g0107 a0001c0004t0003g0110 a0001c0004t0003g0116 a0001c0004t0003g0117 a0001c0004t0003g0120 a0001c0004t0003g0126 a0001c0004t0003g0129 a0001c0004t0003g0130 a0001c0004t0003g0138 a0001c0004t0003g0144 a0001c0004t0003g0145 a0001c0004t0003g0148 a0001c0004t0003g0192 a0001c0004t0003g0197 a0001c0004t0003g0206 a0001c0004t0003g0207 a0001c0004t0003g0213 a0001c0004t0003g0219 a0001c0004t0005g0150 a0001c0004t0006g0376 a0001c0004t0014g0378 a0001c0004t0014g0379 a0001c0004t0022g0299 a0001c0005t0003g0332 a0001c0005t0003g0335 a0001c0005t0004g0173 a0001c0005t0004g0214 a0001c0005t0004g0221 a0001c0005t0004g0252 a0001c0005t0004g0273 a0001c0005t0004g0350 a0001c0005t0005g0338 a0001c0006t0001g0364 a0001c0006t0003g0194 a0001c0006t0003g0196 a0002c0003t0001g0089 a0002c0003t0001g0375 a0002c0003t0003g0262 a0002c0003t0003g0337 a0002c0003t0004g0317 a0002c0003t0005g0230 a0002c0003t0005g0327 a0002c0008t0001g0011 a0002c0008t0001g0381 a0002c0013t0003g0290 a0002c0017t0004g0176 a0002c0017t0006g0225 a0003c0007t0001g0383 a0003c0007t0006g0388 a0003c0014t0012g0087 a0003c0014t0012g0088 a0006c0011t0006g0015 a0006c0011t0006g0228 a0006c0011t0006g0330 a0007c0026t0006g0084 a0009c0023t0003g0382 a0010c0027t0006g0377	101	406	0.2488	16	c.56 others(27): Show c.5653_*5668dupTAGGTACAGGTAAGCA	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding		4894		chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084343	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00673.hp1 HG01109.hp2 others(7): Show HG00099.hp1 HG00673.hp1 HG01109.hp2 HG01516.hp1 HG01928.hp2 HG02015.hp1 HG02738.hp2 HG02818.hp1 NA18951.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0018 a0001c0004t0003 a0001c0005t0004 a0002c0019t0001	a0001c0001t0001g0245 a0001c0001t0002g0298 a0001c0001t0005g0313 others(7): Show a0001c0001t0001g0245 a0001c0001t0002g0298 a0001c0001t0005g0313 a0001c0001t0006g0104 a0001c0002t0001g0140 a0001c0002t0018g0175 a0001c0004t0003g0126 a0001c0004t0003g0141 a0001c0005t0004g0173 a0002c0019t0001g0336	10	406	0.0246	16	c.49+ others(31): Show c.49+2020_49+2035dupCTTTCTTTCTTTCTTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084390	A A	AGAAAGAA others(9): Show AGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA19009.hp2 NA19012.hp2 HG03704.hp2 NA19009.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0007 a0001c0004t0008 a0001c0006t0001 a0001c0001t0007 a0001c0004t0008 a0001c0006t0001	a0001c0001t0007g0329 a0001c0004t0008g0284 a0001c0006t0001g0283 a0001c0001t0007g0329 a0001c0004t0008g0284 a0001c0006t0001g0283	3	406	0.0074	16	c.49+ others(31): Show c.49+1988_49+1989insCTTCTTTCTTTCTTTC	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084390	A A	AGAAAGAA others(9): Show AGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0321 a0001c0001t0007g0321	1	406	0.0025	16	c.49+ others(31): Show c.49+1988_49+1989insCTTCCTTCTTTCTTTC	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1_chr1_109905849_109935992	109907441	G G	GGGAGGAA others(9): Show GGGAGGAATGCATGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	16	c.-35 others(27): Show c.-3583_-3582insGGAGGAATGCATGAAT	CSF1	ENSG00000184371.14	transcript	ENST00000329608.11	protein_coding		3407		chr1	TogoVar
CSF2RB_chr22_36908628_36945439	36943743	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0058 a0001c0004t0001g0058	1	360	0.0028	16	c.52 others(27): Show c.5241_*5242insGTGTGTGTGTGTGTGT	CSF2RB	ENSG00000100368.15	transcript	ENST00000403662.8	protein_coding		3305		chr22	TogoVar

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