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
CFHR4_chr1_196883052_196923633	196885599	T T	TATAGAGA others(3): Show TATAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00735.hp2 HG00741.hp1 others(6): Show HG00408.hp2 HG00735.hp2 HG00741.hp1 HG02698.hp1 HG03710.hp2 HG03834.hp2 HG06807.hp1 NA19010.hp2 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0072 a0002c0002t0001g0002 a0002c0002t0001g0005 others(2): Show a0001c0001t0001g0072 a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0064 a0002c0002t0001g0075	9	350	0.0257	10	c.-25 others(21): Show c.-2552_-2551insATAGAGAGAG	CFHR4	ENSG00000134365.15	transcript	ENST00000608469.6	protein_coding		2452		chr1	TogoVar
CFHR4_chr1_196883052_196923633	196885599	T T	TATATAGA others(3): Show TATATAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG02071.hp1 HG03471.hp1 others(5): Show HG00323.hp2 HG02071.hp1 HG03471.hp1 NA18955.hp2 NA18987.hp1 NA19011.hp1 NA19079.hp2 NA20905.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0018 a0002c0002 a0009c0018	a0002c0002t0001 a0009c0018t0001 a0002c0002t0001 a0009c0018t0001	a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0029 others(2): Show a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0029 a0002c0002t0001g0169 a0009c0018t0001g0005	8	350	0.0229	10	c.-25 others(21): Show c.-2552_-2551insATATAGAGAG	CFHR4	ENSG00000134365.15	transcript	ENST00000608469.6	protein_coding		2452		chr1	TogoVar
CFHR4_chr1_196883052_196923633	196885599	T T	TATATATA others(3): Show TATATATAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG01099.hp1 others(10): Show HG00639.hp2 HG00642.hp1 HG01099.hp1 HG02015.hp1 HG03490.hp1 HG03492.hp1 HG04115.hp1 HG04184.hp1 NA18964.hp1 NA18980.hp1 NA18988.hp2 NA19007.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0029 others(6): Show a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0029 a0002c0002t0001g0058 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0076	13	350	0.0371	10	c.-25 others(21): Show c.-2552_-2551insATATATAGAG	CFHR4	ENSG00000134365.15	transcript	ENST00000608469.6	protein_coding		2452		chr1	TogoVar
CFHR5_chr1_196972556_197014678	196979256	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02723.hp2 HG02895.hp2 others(7): Show HG01891.hp1 HG02723.hp2 HG02895.hp2 HG03130.hp2 HG03139.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 NA19043.hp1 NA21309.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0007 a0002c0004 others(1): Show a0001c0001 a0001c0007 a0002c0004 a0009c0013	a0001c0001t0003 a0001c0007t0003 a0002c0004t0005 others(1): Show a0001c0001t0003 a0001c0007t0003 a0002c0004t0005 a0009c0013t0003	a0001c0001t0003g0088 a0001c0001t0003g0116 a0001c0001t0003g0117 others(6): Show a0001c0001t0003g0088 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0121 a0001c0007t0003g0119 a0001c0007t0003g0120 a0002c0004t0005g0034 a0009c0013t0003g0122	10	356	0.0281	10	c.58+ others(25): Show c.58+1556_58+1565dupGTGTGTGTGT	CFHR5	ENSG00000134389.11	transcript	ENST00000256785.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFHR5_chr1_196972556_197014678	196980628	G G	GTGTGTGT others(3): Show GTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0131 a0002c0004t0001g0131	1	356	0.0028	10	c.59- others(25): Show c.59-2256_59-2255insGTGTGTGTCT	CFHR5	ENSG00000134389.11	transcript	ENST00000256785.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFHR5_chr1_196972556_197014678	196999722	T T	TATATACA others(3): Show TATATACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02896.hp2 HG02897.hp1 others(1): Show HG02717.hp2 HG02896.hp2 HG02897.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0027 a0001c0001t0001g0086 a0002c0004t0001g0131 a0001c0001t0001g0027 a0001c0001t0001g0086 a0002c0004t0001g0131	4	356	0.0112	10	c.114 others(29): Show c.1147+1419_1147+1420insTATACACACA	CFHR5	ENSG00000134389.11	transcript	ENST00000256785.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196658407	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02647.hp1 HG03490.hp1 HG01109.hp2 HG02647.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0278 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0278	3	308	0.0097	10	c.58+ others(25): Show c.58+6245_58+6254dupTTTTTTTTTT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196671587	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp1 HG02886.hp1 others(4): Show HG02257.hp1 HG02630.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG03098.hp1 NA18980.hp2	a0001 a0005 a0011 a0001 a0005 a0011	a0001c0001 a0005c0005 a0011c0012 a0001c0001 a0005c0005 a0011c0012	a0001c0001t0001 a0005c0005t0002 a0011c0012t0001 a0001c0001t0001 a0005c0005t0002 a0011c0012t0001	a0001c0001t0001g0211 a0001c0001t0001g0239 a0001c0001t0001g0240 others(4): Show a0001c0001t0001g0211 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0247 a0005c0005t0002g0010 a0011c0012t0001g0164	7	308	0.0227	10	c.59- others(25): Show c.59-1361_59-1352dupCACACACACA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196693792	A A	ATGTATCA others(3): Show ATGTATCACGG	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	308	0.0033	10	c.133 others(29): Show c.1336+3555_1336+3564dupGTATCACGGT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196693955	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp1 HG01109.hp2 others(21): Show HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01891.hp2 HG02572.hp2 HG02630.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG03225.hp1 HG03239.hp2 HG03654.hp2 HG04199.hp2 HG06807.hp1 NA18969.hp2 NA18972.hp1 NA18997.hp1 NA19001.hp2 NA19062.hp2 NA19072.hp2 NA19087.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0008 a0010 a0011 a0013 a0021	a0001c0001 a0002c0002 a0004c0004 others(5): Show a0001c0001 a0002c0002 a0004c0004 a0008c0009 a0010c0014 a0011c0012 a0013c0016 a0021c0025	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 others(5): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0008c0009t0001 a0010c0014t0001 a0011c0012t0001 a0013c0016t0001 a0021c0025t0001	a0001c0001t0001g0003 a0001c0001t0001g0270 a0001c0001t0001g0272 others(21): Show a0001c0001t0001g0003 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0279 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0295 a0002c0002t0001g0162 a0002c0002t0001g0167 a0004c0004t0001g0038 a0004c0004t0001g0060 a0004c0004t0001g0108 a0004c0004t0001g0126 a0004c0004t0001g0135 a0008c0009t0001g0069 a0008c0009t0001g0127 a0008c0009t0001g0147 a0008c0009t0001g0190 a0010c0014t0001g0017 a0010c0014t0001g0018 a0011c0012t0001g0164 a0013c0016t0001g0030 a0021c0025t0001g0194	24	308	0.0779	10	c.133 others(29): Show c.1336+3743_1336+3752dupGTGTGTGTGT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714626	C C	CGTATATA others(3): Show CGTATATATGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0300 a0007c0007t0002g0300	1	308	0.0033	10	c.151 others(27): Show c.1519+710_1519+719dupGTATATATGT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714635	G G	GTGTATAT others(3): Show GTGTATATATA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19240.hp2 NA18969.hp2 NA19240.hp2	a0006 a0013 a0006 a0013	a0006c0006 a0013c0016 a0006c0006 a0013c0016	a0006c0006t0001 a0013c0016t0001 a0006c0006t0001 a0013c0016t0001	a0006c0006t0001g0021 a0013c0016t0001g0030 a0006c0006t0001g0021 a0013c0016t0001g0030	2	308	0.0065	10	c.151 others(27): Show c.1519+719_1519+720insGTATATATAT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714662	T T	TAGAGAGA others(3): Show TAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0028 a0005c0005t0002g0028	1	308	0.0033	10	c.151 others(27): Show c.1519+746_1519+747insGAGAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATAGA others(3): Show TATATAGAGAG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	308	0.0033	10	c.151 others(27): Show c.1519+752_1519+753insTATAGAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(3): Show TATATATAGAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0193 a0003c0003t0001g0193	1	308	0.0033	10	c.151 others(27): Show c.1519+752_1519+753insTATATAGAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(3): Show TATATATATAG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19005.hp2 NA18906.hp1 NA19005.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0001 a0003c0003t0001 a0004c0004t0001	a0003c0003t0001g0156 a0004c0004t0001g0142 a0003c0003t0001g0156 a0004c0004t0001g0142	2	308	0.0065	10	c.151 others(27): Show c.1519+752_1519+753insTATATATAGA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714701	A A	AGAGAGAG others(3): Show AGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03688.hp1 HG04228.hp2 others(1): Show HG01071.hp1 HG03688.hp1 HG04228.hp2 NA18522.hp2	a0001 a0004 a0012 a0001 a0004 a0012	a0001c0001 a0004c0004 a0012c0011 a0001c0001 a0004c0004 a0012c0011	a0001c0001t0001 a0001c0001t0004 a0004c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0004c0004t0001 a0012c0011t0001	a0001c0001t0001g0159 a0001c0001t0004g0290 a0004c0004t0001g0265 others(1): Show a0001c0001t0001g0159 a0001c0001t0004g0290 a0004c0004t0001g0265 a0012c0011t0001g0306	4	308	0.0130	10	c.151 others(27): Show c.1519+793_1519+794insGGAGAGAGAG	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFI_chr4_109735695_109806999	109783811	T T	TAATATAT others(3): Show TAATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01070.hp2 HG02015.hp2 others(16): Show HG00558.hp2 HG01070.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG03239.hp1 HG03453.hp1 NA18612.hp1 NA18952.hp2 NA18959.hp1 NA18961.hp1 NA18970.hp1 NA18978.hp1 NA18985.hp1 NA18998.hp1 NA19043.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0011 a0001c0002t0001g0051 a0001c0002t0001g0052 others(16): Show a0001c0002t0001g0011 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0056 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0002g0027	19	354	0.0537	10	c.58- others(27): Show c.58-16988_58-16987insTATATATATT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109783812	G G	GAGATATT others(3): Show GAGATATTCAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02027.hp2 HG02080.hp2 others(13): Show HG00673.hp1 HG02027.hp2 HG02080.hp2 HG02155.hp1 HG02523.hp1 HG03239.hp2 NA18612.hp2 NA18747.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18979.hp2 NA18982.hp2 NA18989.hp1 NA19064.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0313 a0001c0001t0001g0319 a0002c0003t0001g0259 others(13): Show a0001c0001t0001g0313 a0001c0001t0001g0319 a0002c0003t0001g0259 a0002c0003t0001g0306 a0002c0003t0001g0307 a0002c0003t0001g0308 a0002c0003t0001g0309 a0002c0003t0001g0314 a0002c0003t0001g0315 a0002c0003t0001g0316 a0002c0003t0001g0317 a0002c0003t0001g0318 a0002c0003t0001g0320 a0002c0003t0001g0321 a0002c0003t0001g0322 a0002c0003t0001g0325	16	354	0.0452	10	c.58- others(27): Show c.58-16989_58-16988insATGAATATCT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CFLAR_chr2_201111164_201181687	201114013	G G	GATATATA others(3): Show GATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0048 a0001c0001t0033g0048	1	234	0.0043	10	c.-26 others(21): Show c.-2606_-2605insATATATATAT	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding		2150		chr2	TogoVar
CFLAR_chr2_201111164_201181687	201134640	T T	TTAAAATA others(3): Show TTAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG00741.hp2 others(25): Show HG00280.hp1 HG00642.hp2 HG00741.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01433.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01975.hp2 HG02080.hp2 HG02083.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG03139.hp2 HG03225.hp1 HG03516.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0008 a0001c0002 a0003c0008	a0001c0002t0007 a0001c0002t0008 a0001c0002t0012 others(14): Show a0001c0002t0007 a0001c0002t0008 a0001c0002t0012 a0001c0002t0013 a0001c0002t0031 a0001c0002t0042 a0001c0002t0047 a0001c0002t0117 a0001c0002t0119 a0001c0002t0120 a0001c0002t0121 a0001c0002t0122 a0001c0002t0124 a0001c0002t0126 a0001c0002t0127 a0001c0002t0128 a0003c0008t0012	a0001c0002t0007g0006 a0001c0002t0007g0036 a0001c0002t0007g0037 others(24): Show a0001c0002t0007g0006 a0001c0002t0007g0036 a0001c0002t0007g0037 a0001c0002t0007g0038 a0001c0002t0008g0028 a0001c0002t0008g0030 a0001c0002t0008g0040 a0001c0002t0012g0005 a0001c0002t0012g0172 a0001c0002t0013g0002 a0001c0002t0013g0021 a0001c0002t0013g0022 a0001c0002t0013g0024 a0001c0002t0031g0002 a0001c0002t0031g0170 a0001c0002t0042g0045 a0001c0002t0047g0046 a0001c0002t0117g0208 a0001c0002t0119g0035 a0001c0002t0120g0039 a0001c0002t0121g0002 a0001c0002t0122g0171 a0001c0002t0124g0005 a0001c0002t0126g0025 a0001c0002t0127g0027 a0001c0002t0128g0029 a0003c0008t0012g0034	28	234	0.1197	10	c.388 others(27): Show c.388-1296_388-1287dupTAAAATAAAA	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CFTR_chr7_117475025_117673665	117490312	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG02056.hp2 others(1): Show HG00140.hp1 HG00642.hp2 HG02056.hp2 HG04184.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0003 a0011c0016 a0001c0001 a0001c0003 a0011c0016	a0001c0001t0001 a0001c0003t0003 a0011c0016t0002 a0001c0001t0001 a0001c0003t0003 a0011c0016t0002	a0001c0001t0001g0068 a0001c0003t0003g0144 a0001c0003t0003g0145 others(1): Show a0001c0001t0001g0068 a0001c0003t0003g0144 a0001c0003t0003g0145 a0011c0016t0002g0201	4	202	0.0198	10	c.53+ others(27): Show c.53+10199_53+10208dupCACACACACA	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117499429	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01123.hp1 HG01243.hp1 others(14): Show HG00323.hp1 HG01123.hp1 HG01243.hp1 HG01891.hp2 HG02145.hp2 HG02451.hp1 HG02559.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG03041.hp2 HG03130.hp2 HG04184.hp1 HG06807.hp1 NA18906.hp2 NA20129.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0013c0013	a0001c0001t0002 a0001c0001t0004 a0001c0003t0003 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0005t0003 a0001c0006t0003 a0013c0013t0003	a0001c0001t0002g0195 a0001c0001t0004g0018 a0001c0001t0004g0135 others(14): Show a0001c0001t0002g0195 a0001c0001t0004g0018 a0001c0001t0004g0135 a0001c0003t0003g0113 a0001c0003t0003g0114 a0001c0003t0003g0116 a0001c0003t0003g0145 a0001c0003t0003g0155 a0001c0003t0003g0178 a0001c0003t0003g0184 a0001c0003t0003g0187 a0001c0003t0003g0190 a0001c0004t0001g0143 a0001c0004t0002g0002 a0001c0005t0003g0194 a0001c0006t0003g0193 a0013c0013t0003g0136	17	202	0.0842	10	c.54- others(25): Show c.54-4800_54-4791dupGTGTGTGTGT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117518569	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	202	0.0050	10	c.273 others(27): Show c.273+9438_273+9447dupATATATATAT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117545984	A A	AATTTTAT others(3): Show AATTTTATTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0191 a0001c0004t0003g0191	1	202	0.0050	10	c.121 others(29): Show c.1210-2641_1210-2632dupATTTTATTTT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117548333	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02258.hp1 HG02280.hp1 others(1): Show HG01433.hp2 HG02258.hp1 HG02280.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0019 a0001c0001 a0001c0006 a0001c0019	a0001c0001t0002 a0001c0006t0003 a0001c0019t0003 a0001c0001t0002 a0001c0006t0003 a0001c0019t0003	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0006t0003g0193 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0006t0003g0193 a0001c0019t0003g0192	4	202	0.0198	10	c.121 others(27): Show c.1210-285_1210-276dupGTGTGTGTGT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117566248	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02818.hp2 HG02886.hp2 others(2): Show HG02630.hp2 HG02818.hp2 HG02886.hp2 HG03017.hp2 NA19030.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0007c0024	a0001c0001t0002 a0001c0004t0002 a0001c0005t0003 others(1): Show a0001c0001t0002 a0001c0004t0002 a0001c0005t0003 a0007c0024t0003	a0001c0001t0002g0151 a0001c0004t0002g0008 a0001c0005t0003g0149 others(2): Show a0001c0001t0002g0151 a0001c0004t0002g0008 a0001c0005t0003g0149 a0001c0005t0003g0150 a0007c0024t0003g0148	5	202	0.0248	10	c.158 others(29): Show c.1584+6622_1584+6631dupACACACACAC	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	11/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117612015	A A	ATATATAT others(3): Show ATATATATATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02922.hp1 HG03669.hp2 others(3): Show HG00099.hp1 HG02922.hp1 HG03669.hp2 NA18954.hp1 NA18960.hp1 NA19086.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0026 a0001c0001 a0004c0026	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0004c0026t0002	a0001c0001t0002g0023 a0001c0001t0002g0034 a0001c0001t0002g0035 others(3): Show a0001c0001t0002g0023 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0004g0138 a0001c0001t0009g0052 a0004c0026t0002g0037	6	202	0.0297	10	c.336 others(27): Show c.3367+214_3367+215insATGTATATAT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117612019	A A	ATATATGT others(3): Show ATATATGTATG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	202	0.0050	10	c.336 others(27): Show c.3367+214_3367+215insATGTATGTAT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117612023	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0101 a0002c0002t0001g0101	1	202	0.0050	10	c.336 others(27): Show c.3367+236_3367+245dupTATATATATA	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117612033	A A	ATATATAT others(3): Show ATATATATATG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	202	0.0050	10	c.336 others(27): Show c.3367+234_3367+235insGTATATATAT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117612234	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02280.hp2 others(4): Show HG02145.hp1 HG02145.hp2 HG02280.hp2 HG02630.hp1 HG03041.hp1 HG03209.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0002c0020	a0001c0001t0004 a0001c0003t0003 a0001c0005t0003 others(2): Show a0001c0001t0004 a0001c0003t0003 a0001c0005t0003 a0001c0006t0003 a0002c0020t0002	a0001c0001t0004g0182 a0001c0003t0003g0183 a0001c0005t0003g0194 others(4): Show a0001c0001t0004g0182 a0001c0003t0003g0183 a0001c0005t0003g0194 a0001c0005t0003g0196 a0001c0005t0003g0197 a0001c0006t0003g0142 a0002c0020t0002g0079	7	202	0.0347	10	c.336 others(27): Show c.3367+444_3367+453dupCACACACACA	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CGAS_chr6_73418711_73457297	73426281	C C	CAAAATAA others(3): Show CAAAATAAAAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0061 a0003c0004t0061	a0003c0004t0061g0354 a0003c0004t0061g0354	1	410	0.0024	10	c.121 others(27): Show c.1218-713_1218-704dupATTTTATTTT	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding	4/4			chr6	TogoVar
CGAS_chr6_73418711_73457297	73426349	G G	GAAATGAT others(3): Show GAAATGATAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18969.hp2 NA18990.hp2 others(6): Show HG02165.hp1 NA18969.hp2 NA18990.hp2 NA18998.hp1 NA18999.hp2 NA19064.hp2 NA19065.hp2 NA19079.hp2 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0019 a0001c0002 a0001c0019	a0001c0002t0002 a0001c0002t0052 a0001c0019t0034 a0001c0002t0002 a0001c0002t0052 a0001c0019t0034	a0001c0002t0002g0025 a0001c0002t0002g0216 a0001c0002t0002g0220 others(5): Show a0001c0002t0002g0025 a0001c0002t0002g0216 a0001c0002t0002g0220 a0001c0002t0002g0226 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0052g0228 a0001c0019t0034g0046	9	410	0.0220	10	c.121 others(27): Show c.1218-772_1218-771insTTTATCATTT	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding	4/4			chr6	TogoVar
CGAS_chr6_73418711_73457297	73426349	G G	GATAAAAT others(3): Show GATAAAATAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG02071.hp2 others(14): Show HG00438.hp1 HG00597.hp2 HG02071.hp2 HG02080.hp2 HG02135.hp2 HG02155.hp2 HG02698.hp2 HG03239.hp1 HG03471.hp1 HG03654.hp2 HG03927.hp1 NA18940.hp1 NA18943.hp1 NA18951.hp1 NA19009.hp1 NA19068.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0021 a0003c0004 a0001c0003 a0001c0021 a0003c0004	a0001c0003t0004 a0001c0003t0009 a0001c0003t0010 others(6): Show a0001c0003t0004 a0001c0003t0009 a0001c0003t0010 a0001c0003t0016 a0001c0003t0023 a0001c0003t0040 a0001c0021t0016 a0003c0004t0012 a0003c0004t0061	a0001c0003t0004g0056 a0001c0003t0009g0324 a0001c0003t0010g0014 others(12): Show a0001c0003t0004g0056 a0001c0003t0009g0324 a0001c0003t0010g0014 a0001c0003t0010g0052 a0001c0003t0010g0053 a0001c0003t0010g0055 a0001c0003t0010g0058 a0001c0003t0010g0061 a0001c0003t0010g0083 a0001c0003t0016g0096 a0001c0003t0023g0016 a0001c0003t0040g0093 a0001c0021t0016g0095 a0003c0004t0012g0337 a0003c0004t0061g0354	17	410	0.0415	10	c.121 others(27): Show c.1218-781_1218-772dupTTTATTTTAT	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding	4/4			chr6	TogoVar
CGAS_chr6_73418711_73457297	73441441	T T	TCCAAATC others(3): Show TCCAAATCAAC	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0246 a0002c0005t0002g0246	1	410	0.0024	10	c.878 others(26): Show c.878-1006_878-997dupGTTGATTTGG	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding	2/4			chr6	TogoVar
CGAS_chr6_73418711_73457297	73449476	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(115): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00621.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01433.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02970.hp1 HG02970.hp2 HG03471.hp2 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03834.hp1 NA18522.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18983.hp1 NA18993.hp1 NA18993.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0002 a0001c0003 a0001c0006 others(5): Show a0001c0002 a0001c0003 a0001c0006 a0002c0001 a0002c0005 a0002c0008 a0007c0018 a0008c0017	a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 others(28): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0002t0018 a0001c0002t0019 a0001c0002t0025 a0001c0002t0050 a0001c0002t0052 a0001c0003t0001 a0001c0003t0011 a0001c0006t0003 a0002c0001t0001 a0002c0001t0005 a0002c0001t0009 a0002c0001t0014 a0002c0001t0020 a0002c0001t0021 a0002c0001t0065 a0002c0001t0068 a0002c0001t0072 a0002c0001t0073 a0002c0001t0074 a0002c0001t0075 a0002c0005t0002 a0002c0005t0006 a0002c0005t0008 a0002c0005t0012 a0002c0005t0018 a0002c0008t0003 a0007c0018t0006 a0008c0017t0009	a0001c0002t0002g0001 a0001c0002t0002g0024 a0001c0002t0002g0025 others(95): Show a0001c0002t0002g0001 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0226 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0280 a0001c0002t0006g0224 a0001c0002t0008g0008 a0001c0002t0018g0223 a0001c0002t0018g0229 a0001c0002t0019g0114 a0001c0002t0025g0222 a0001c0002t0050g0227 a0001c0002t0052g0228 a0001c0003t0001g0230 a0001c0003t0001g0265 a0001c0003t0011g0225 a0001c0006t0003g0213 a0002c0001t0001g0006 a0002c0001t0001g0018 a0002c0001t0001g0019 a0002c0001t0001g0021 a0002c0001t0001g0022 a0002c0001t0001g0028 a0002c0001t0001g0029 a0002c0001t0001g0138 a0002c0001t0001g0139 a0002c0001t0001g0140 a0002c0001t0001g0141 a0002c0001t0001g0143 a0002c0001t0001g0144 a0002c0001t0001g0145 a0002c0001t0001g0148 a0002c0001t0001g0150 a0002c0001t0001g0151 a0002c0001t0001g0152 a0002c0001t0001g0154 a0002c0001t0001g0155 a0002c0001t0001g0160 a0002c0001t0001g0162 a0002c0001t0001g0163 a0002c0001t0001g0165 a0002c0001t0001g0166 a0002c0001t0001g0168 a0002c0001t0001g0169 a0002c0001t0001g0170 a0002c0001t0001g0172 a0002c0001t0001g0251 a0002c0001t0001g0252 a0002c0001t0001g0254 a0002c0001t0001g0255 a0002c0001t0001g0256 a0002c0001t0001g0258 a0002c0001t0001g0259 a0002c0001t0001g0260 a0002c0001t0001g0261 a0002c0001t0001g0262 a0002c0001t0001g0263 a0002c0001t0001g0264 a0002c0001t0001g0268 a0002c0001t0005g0020 a0002c0001t0005g0146 a0002c0001t0005g0167 a0002c0001t0009g0171 a0002c0001t0009g0202 a0002c0001t0014g0147 a0002c0001t0014g0156 a0002c0001t0014g0164 a0002c0001t0020g0157 a0002c0001t0021g0142 a0002c0001t0021g0149 a0002c0001t0065g0257 a0002c0001t0068g0253 a0002c0001t0072g0190 a0002c0001t0073g0108 a0002c0001t0074g0159 a0002c0001t0075g0112 a0002c0005t0002g0153 a0002c0005t0002g0266 a0002c0005t0002g0267 a0002c0005t0006g0248 a0002c0005t0008g0030 a0002c0005t0008g0158 a0002c0005t0012g0027 a0002c0005t0018g0250 a0002c0008t0003g0109 a0002c0008t0003g0113 a0002c0008t0003g0115 a0002c0008t0003g0161 a0007c0018t0006g0249 a0008c0017t0009g0201	118	410	0.2878	10	c.657 others(27): Show c.657+2039_657+2048dupGTGTGTGTGT	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding	1/4			chr6	TogoVar
CGAS_chr6_73418711_73457297	73450097	G G	GAGAGAAG others(3): Show GAGAGAAGAGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01099.hp1 HG01515.hp1 others(11): Show HG00673.hp1 HG01099.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp2 HG02055.hp2 HG03017.hp2 HG03239.hp2 HG03688.hp2 HG04199.hp1 NA19002.hp2 NA19084.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0005 a0010 a0002 a0005 a0010	a0002c0001 a0002c0005 a0005c0011 others(2): Show a0002c0001 a0002c0005 a0005c0011 a0005c0014 a0010c0013	a0002c0001t0001 a0002c0001t0005 a0002c0005t0006 others(4): Show a0002c0001t0001 a0002c0001t0005 a0002c0005t0006 a0005c0011t0058 a0005c0011t0062 a0005c0014t0005 a0010c0013t0005	a0002c0001t0001g0192 a0002c0001t0001g0194 a0002c0001t0001g0196 others(10): Show a0002c0001t0001g0192 a0002c0001t0001g0194 a0002c0001t0001g0196 a0002c0001t0005g0023 a0002c0001t0005g0191 a0002c0001t0005g0197 a0002c0001t0005g0198 a0002c0005t0006g0193 a0002c0005t0006g0195 a0005c0011t0058g0105 a0005c0011t0062g0102 a0005c0014t0005g0104 a0010c0013t0005g0103	14	410	0.0342	10	c.657 others(27): Show c.657+1418_657+1427dupTCTCTTCTCT	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding	1/4			chr6	TogoVar
CGAS_chr6_73418711_73457297	73453169	C C	CACAAAAC others(3): Show CACAAAACAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0150 a0002c0001t0001g0150	1	410	0.0024	10	c.-98 others(19): Show c.-989_-988insTTTGTTTTGT	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding		873		chr6	TogoVar
CGAS_chr6_73418711_73457297	73453568	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01106.hp1 HG01934.hp2 others(6): Show HG00733.hp2 HG01106.hp1 HG01934.hp2 HG02129.hp2 HG02615.hp1 HG02698.hp2 HG03942.hp1 NA18522.hp2 NA19084.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0002 a0001c0021 a0002c0001 others(3): Show a0001c0002 a0001c0021 a0002c0001 a0002c0005 a0003c0004 a0010c0013	a0001c0002t0016 a0001c0002t0039 a0001c0021t0016 others(6): Show a0001c0002t0016 a0001c0002t0039 a0001c0021t0016 a0002c0001t0001 a0002c0001t0005 a0002c0005t0006 a0003c0004t0001 a0003c0004t0032 a0010c0013t0005	a0001c0002t0016g0012 a0001c0002t0039g0034 a0001c0021t0016g0095 others(6): Show a0001c0002t0016g0012 a0001c0002t0039g0034 a0001c0021t0016g0095 a0002c0001t0001g0187 a0002c0001t0005g0185 a0002c0005t0006g0193 a0003c0004t0001g0350 a0003c0004t0032g0356 a0010c0013t0005g0103	9	410	0.0220	10	c.-13 others(21): Show c.-1388_-1387insAAAAAAAAAA	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding		1272		chr6	TogoVar
CGA_chr6_87080498_87100106	87083824	C C	CTCATTCT others(3): Show CTCATTCTGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	420	0.0024	10	c.19 others(21): Show c.1931_*1932insTTCAGAATGA	CGA	ENSG00000135346.9	transcript	ENST00000627148.3	protein_coding		1673		chr6	TogoVar
CGB3_chr19_49017869_49029333	49021572	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG01192.hp1 others(10): Show HG00280.hp2 HG00735.hp1 HG01192.hp1 HG01884.hp1 HG02055.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02735.hp1 HG02886.hp1 HG03516.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0002t0001g0001 others(1): Show a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0002t0001g0001 a0001c0002t0001g0004	13	391	0.0333	10	c.13 others(21): Show c.1313_*1314insACACACACAC	CGB3	ENSG00000104827.12	transcript	ENST00000357383.4	protein_coding		1296		chr19	TogoVar
CGB5_chr19_49038848_49050311	49047250	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0010 a0001c0003t0006g0010	1	382	0.0026	10	c.19 others(21): Show c.1956_*1957insTTTTTTTTTT	CGB5	ENSG00000189052.7	transcript	ENST00000301408.7	protein_coding		1940		chr19	TogoVar
CGB8_chr19_49042638_49054111	49047250	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0035 a0001c0003t0006g0035	1	394	0.0025	10	c.40 others(19): Show c.404_*405insAAAAAAAAAA	CGB8	ENSG00000213030.6	transcript	ENST00000448456.4	protein_coding		387		chr19	TogoVar
CGGBP1_chr3_88046950_88064005	88050344	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00642.hp2 HG01433.hp1 others(12): Show HG00438.hp2 HG00642.hp2 HG01433.hp1 HG02257.hp2 HG02717.hp1 HG02976.hp1 HG03654.hp2 NA18940.hp2 NA18961.hp2 NA18989.hp1 NA18999.hp2 NA19007.hp1 NA19012.hp1 NA19084.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0036	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0010g0015 a0001c0001t0011g0050 a0001c0001t0017g0023 a0001c0001t0018g0024 a0001c0001t0019g0025 a0001c0001t0036g0061	15	358	0.0419	10	c.51 others(21): Show c.5128_*5129insAAAAAAAAAA	CGGBP1	ENSG00000163320.12	transcript	ENST00000482016.6	protein_coding		1605		chr3	TogoVar
CGNL1_chr15_57371505_57555717	57375684	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0259 a0002c0002t0007g0259	1	294	0.0034	10	c.-89 others(19): Show c.-899_-898insAAAAAAAAAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding		820		chr15	TogoVar
CGNL1_chr15_57371505_57555717	57383298	T T	TTTTTTTT others(3): Show TTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18953.hp2 HG01099.hp1 NA18953.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0018 a0001c0001t0001 a0002c0002t0018	a0001c0001t0001g0102 a0002c0002t0018g0092 a0001c0001t0001g0102 a0002c0002t0018g0092	2	294	0.0068	10	c.-16 others(27): Show c.-16+6738_-16+6739insTTGTTTTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57383595	C C	CCTTTTCT others(3): Show CCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03669.hp2 NA18989.hp1 others(1): Show HG03017.hp1 HG03669.hp2 NA18989.hp1 NA19085.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0027 a0004c0004t0001 a0004c0004t0030 a0003c0003t0027 a0004c0004t0001 a0004c0004t0030	a0003c0003t0027g0141 a0004c0004t0001g0137 a0004c0004t0001g0138 others(1): Show a0003c0003t0027g0141 a0004c0004t0001g0137 a0004c0004t0001g0138 a0004c0004t0030g0136	4	294	0.0136	10	c.-16 others(27): Show c.-16+7059_-16+7068dupCTTTTCTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57409037	T T	TCACACAC others(3): Show TCACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00621.hp2 others(61): Show HG00140.hp2 HG00438.hp2 HG00621.hp2 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01123.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01361.hp2 HG01515.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp2 HG02027.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03710.hp2 HG04115.hp2 NA18941.hp1 NA18946.hp2 NA18948.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18971.hp1 NA18983.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA19004.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp2 NA19087.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0012 a0025	a0001c0001 a0001c0005 a0001c0011 others(10): Show a0001c0001 a0001c0005 a0001c0011 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0007 a0008c0010 a0009c0014 a0010c0013 a0012c0019 a0025c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0005t0001 a0001c0005t0002 a0001c0011t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0013 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0024 a0003c0003t0027 a0004c0004t0001 a0005c0006t0002 a0005c0006t0003 a0005c0006t0004 a0005c0006t0033 a0005c0006t0035 a0006c0007t0005 a0008c0010t0028 a0009c0014t0006 a0010c0013t0009 a0012c0019t0006 a0025c0036t0002	a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0071 others(61): Show a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0190 a0001c0001t0001g0258 a0001c0001t0001g0268 a0001c0001t0002g0042 a0001c0001t0002g0105 a0001c0001t0002g0128 a0001c0001t0002g0203 a0001c0001t0002g0249 a0001c0001t0004g0021 a0001c0001t0004g0043 a0001c0001t0004g0057 a0001c0001t0004g0155 a0001c0001t0004g0163 a0001c0001t0004g0181 a0001c0001t0004g0274 a0001c0005t0001g0053 a0001c0005t0001g0097 a0001c0005t0001g0222 a0001c0005t0002g0214 a0001c0011t0002g0084 a0002c0002t0003g0041 a0002c0002t0003g0068 a0002c0002t0003g0081 a0002c0002t0003g0117 a0002c0002t0003g0175 a0002c0002t0003g0238 a0002c0002t0003g0242 a0002c0002t0003g0243 a0002c0002t0003g0270 a0002c0002t0007g0045 a0002c0002t0008g0039 a0002c0002t0008g0273 a0002c0002t0013g0271 a0003c0003t0001g0151 a0003c0003t0001g0178 a0003c0003t0002g0177 a0003c0003t0002g0207 a0003c0003t0004g0211 a0003c0003t0024g0209 a0003c0003t0027g0141 a0004c0004t0001g0011 a0005c0006t0002g0169 a0005c0006t0003g0002 a0005c0006t0004g0199 a0005c0006t0033g0037 a0005c0006t0035g0038 a0006c0007t0005g0142 a0006c0007t0005g0164 a0008c0010t0028g0052 a0009c0014t0006g0096 a0010c0013t0009g0012 a0012c0019t0006g0158 a0025c0036t0002g0154	64	294	0.2177	10	c.-15 others(29): Show c.-15-28921_-15-28912dupCACACACACA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GAAAAAAA others(3): Show GAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00438.hp2 others(47): Show HG00140.hp2 HG00423.hp1 HG00438.hp2 HG00621.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01192.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01993.hp2 HG02004.hp2 HG02071.hp2 HG02080.hp2 HG02132.hp2 HG02145.hp2 HG02257.hp2 HG02683.hp2 HG02735.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp2 HG04199.hp2 HG04204.hp1 NA18941.hp1 NA18941.hp2 NA18946.hp2 NA18948.hp2 NA18952.hp1 NA18977.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19003.hp2 NA19068.hp1 NA19085.hp1 NA19091.hp2 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0007 a0009 a0017 a0025 a0026	a0001c0001 a0001c0011 a0002c0002 others(9): Show a0001c0001 a0001c0011 a0002c0002 a0002c0026 a0003c0003 a0004c0004 a0004c0017 a0007c0009 a0009c0014 a0017c0031 a0025c0036 a0026c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0011t0002 a0002c0002t0003 a0002c0026t0018 a0003c0003t0001 a0003c0003t0027 a0004c0004t0001 a0004c0004t0002 a0004c0017t0001 a0007c0009t0002 a0007c0009t0003 a0009c0014t0006 a0017c0031t0004 a0025c0036t0002 a0026c0023t0006	a0001c0001t0001g0082 a0001c0001t0001g0104 a0001c0001t0001g0108 others(46): Show a0001c0001t0001g0082 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0002g0001 a0001c0001t0002g0042 a0001c0001t0002g0070 a0001c0001t0002g0113 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0182 a0001c0001t0002g0208 a0001c0001t0002g0221 a0001c0001t0002g0231 a0001c0001t0002g0267 a0001c0001t0004g0021 a0001c0001t0004g0063 a0001c0001t0004g0083 a0001c0001t0004g0155 a0001c0011t0002g0084 a0001c0011t0002g0103 a0001c0011t0002g0110 a0002c0002t0003g0041 a0002c0002t0003g0068 a0002c0002t0003g0081 a0002c0002t0003g0119 a0002c0002t0003g0195 a0002c0002t0003g0196 a0002c0002t0003g0238 a0002c0002t0003g0239 a0002c0002t0003g0265 a0002c0002t0003g0266 a0002c0002t0003g0270 a0002c0026t0018g0166 a0003c0003t0001g0178 a0003c0003t0027g0141 a0004c0004t0001g0138 a0004c0004t0002g0204 a0004c0017t0001g0192 a0007c0009t0002g0143 a0007c0009t0003g0168 a0009c0014t0006g0096 a0017c0031t0004g0101 a0025c0036t0002g0154 a0026c0023t0006g0184	50	294	0.1701	10	c.169 others(27): Show c.1698-179_1698-170dupAAAAAAAAAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr15	TogoVar

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