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
CHD6_chr20_41397083_41623377	41439038	ACTAAGAG others(7): Show ACTAAGAGATAAATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	324	0.0031	-14	c.400 others(31): Show c.4007+948_4007+961delCATTTATCTCTTAG	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	26/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41487144	GAACTGGA others(7): Show GAACTGGACCTTGAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	324	0.0031	-14	c.200 others(31): Show c.2001+507_2001+520delTTCAAGGTCCAGTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	14/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41498803	ATGTATGT others(7): Show ATGTATGTATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03098.hp1 NA19043.hp2 HG00099.hp2 HG03098.hp1 NA19043.hp2	a0001 a0010 a0015 a0001 a0010 a0015	a0001c0001 a0010c0021 a0015c0017 a0001c0001 a0010c0021 a0015c0017	a0001c0001t0001 a0010c0021t0001 a0015c0017t0001 a0001c0001t0001 a0010c0021t0001 a0015c0017t0001	a0001c0001t0001g0305 a0010c0021t0001g0248 a0015c0017t0001g0324 a0001c0001t0001g0305 a0010c0021t0001g0248 a0015c0017t0001g0324	3	324	0.0093	-14	c.915 others(29): Show c.915+478_915+491delCACACATACATACA	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	6/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41498807	ATGTATGT others(7): Show ATGTATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01255.hp2 HG01358.hp1 others(15): Show HG00323.hp2 HG01255.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01928.hp2 HG01975.hp1 HG02040.hp2 HG02273.hp2 HG02300.hp1 HG03139.hp2 HG03491.hp2 HG03492.hp1 HG04184.hp1 NA18747.hp1 NA19000.hp2 NA19011.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0275 a0001c0002t0001g0155 a0001c0002t0001g0174 others(15): Show a0001c0001t0001g0275 a0001c0002t0001g0155 a0001c0002t0001g0174 a0001c0002t0001g0180 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0301 a0001c0002t0001g0302	18	324	0.0556	-14	c.915 others(29): Show c.915+474_915+487delCACACACACATACA	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	6/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41574809	GGAGGCAG others(7): Show GGAGGCAGGGAACCT	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	324	0.0031	-14	c.-23 others(33): Show c.-23-23463_-23-23450delAGGTTCCCTGCCTC	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	1/36			chr20	TogoVar
CHD7_chr8_60673740_60873028	60816113	GTCTCTCT others(7): Show GTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02818.hp2 HG02897.hp1 others(5): Show HG02055.hp1 HG02818.hp2 HG02897.hp1 HG03130.hp1 HG03139.hp1 HG03540.hp2 HG06807.hp1 NA19043.hp1	a0001 a0008 a0001 a0008	a0001c0003 a0001c0007 a0008c0028 a0001c0003 a0001c0007 a0008c0028	a0001c0003t0004 a0001c0003t0030 a0001c0007t0035 others(1): Show a0001c0003t0004 a0001c0003t0030 a0001c0007t0035 a0008c0028t0037	a0001c0003t0004g0107 a0001c0003t0004g0108 a0001c0003t0004g0171 others(5): Show a0001c0003t0004g0107 a0001c0003t0004g0108 a0001c0003t0004g0171 a0001c0003t0004g0172 a0001c0003t0004g0186 a0001c0003t0030g0173 a0001c0007t0035g0160 a0008c0028t0037g0170	8	236	0.0339	-14	c.249 others(31): Show c.2499-246_2499-233delCTCTCTCTCTCTCT	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	7/37		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD9NB_chr16_53036484_53057897	53051768	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG01433.hp1 others(14): Show HG00099.hp1 HG00323.hp2 HG01433.hp1 HG01515.hp1 HG03225.hp2 HG03239.hp1 HG03492.hp1 HG03654.hp1 HG03710.hp2 HG03927.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18954.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0041	a0001c0001t0001g0186 a0001c0001t0002g0014 a0001c0001t0002g0017 others(9): Show a0001c0001t0001g0186 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0054 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0006g0078 a0001c0001t0006g0083 a0001c0001t0009g0080 a0001c0001t0009g0081 a0001c0001t0041g0056	17	406	0.0419	-14	c.-18 others(31): Show c.-185+979_-185+992delATATATATATATAT	CHD9NB	ENSG00000277639.3	transcript	ENST00000619363.3	protein_coding	1/2			chr16	TogoVar
CHD9_chr16_53049991_53332497	53051768	AATATATA others(7): Show AATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG01433.hp2 others(8): Show HG00099.hp2 HG00323.hp1 HG01433.hp2 HG01515.hp1 HG03225.hp2 HG03239.hp2 HG03492.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0001c0001t0001 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0119 a0002c0002t0001g0095 a0002c0002t0001g0108 others(8): Show a0001c0001t0001g0119 a0002c0002t0001g0095 a0002c0002t0001g0108 a0002c0002t0001g0113 a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0136 a0002c0002t0001g0150 a0003c0004t0001g0123 a0003c0004t0001g0157	11	238	0.0462	-14	c.-34 others(25): Show c.-3473_-3460delATATATATATATAT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding		3222		chr16	TogoVar
CHD9_chr16_53049991_53332497	53070520	CCTTCCTT others(7): Show CCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02165.hp2 HG03516.hp2 HG01255.hp1 HG02165.hp2 HG03516.hp2	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0003c0004 a0006c0009 a0002c0002 a0003c0004 a0006c0009	a0002c0002t0001 a0003c0004t0001 a0006c0009t0004 a0002c0002t0001 a0003c0004t0001 a0006c0009t0004	a0002c0002t0001g0144 a0003c0004t0001g0207 a0006c0009t0004g0107 a0002c0002t0001g0144 a0003c0004t0001g0207 a0006c0009t0004g0107	3	238	0.0126	-14	c.-16 others(35): Show c.-165+15446_-165+15459delTCCTTCCTTCCTCT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53171847	CACACACA others(7): Show CACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp1 HG01884.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0004 a0001c0001t0002 a0001c0005t0004	a0001c0001t0002g0175 a0001c0005t0004g0097 a0001c0001t0002g0175 a0001c0005t0004g0097	2	238	0.0084	-14	c.145 others(35): Show c.1452+14320_1452+14333delGACACACACACACA	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	2/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHEK2_chr22_28682743_28746820	28704121	GACACACA others(7): Show GACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02055.hp1 HG03453.hp2 HG02015.hp1 HG02055.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0188 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0188	3	384	0.0078	-14	c.847 others(29): Show c.847-569_847-556delGTGTGTGTGTGTGT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	7/14			chr22	TogoVar
CHFR_chr12_132827356_132892605	132850964	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00642.hp2 others(39): Show HG00140.hp2 HG00438.hp1 HG00642.hp2 HG01106.hp2 HG01168.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01928.hp2 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02148.hp2 HG02155.hp2 HG02293.hp2 HG02523.hp2 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04204.hp1 NA18951.hp1 NA18956.hp2 NA18963.hp1 NA18973.hp2 NA18984.hp2 NA18990.hp1 NA18994.hp1 NA19058.hp2 NA19063.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0002 a0001c0001 a0001c0010 a0002c0002	a0001c0001t0006 a0001c0001t0012 a0001c0001t0033 others(18): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0033 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0072 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0010t0033 a0002c0002t0142	a0001c0001t0006g0126 a0001c0001t0006g0132 a0001c0001t0006g0134 others(37): Show a0001c0001t0006g0126 a0001c0001t0006g0132 a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0006g0137 a0001c0001t0006g0138 a0001c0001t0006g0139 a0001c0001t0006g0145 a0001c0001t0006g0147 a0001c0001t0006g0150 a0001c0001t0006g0152 a0001c0001t0012g0002 a0001c0001t0012g0123 a0001c0001t0012g0125 a0001c0001t0012g0148 a0001c0001t0012g0168 a0001c0001t0033g0129 a0001c0001t0033g0149 a0001c0001t0050g0130 a0001c0001t0050g0136 a0001c0001t0051g0146 a0001c0001t0051g0153 a0001c0001t0052g0169 a0001c0001t0052g0170 a0001c0001t0053g0141 a0001c0001t0053g0151 a0001c0001t0072g0352 a0001c0001t0143g0124 a0001c0001t0144g0127 a0001c0001t0145g0312 a0001c0001t0146g0131 a0001c0001t0147g0133 a0001c0001t0148g0143 a0001c0001t0149g0142 a0001c0001t0150g0144 a0001c0001t0151g0140 a0001c0001t0152g0154 a0001c0001t0153g0155 a0001c0010t0033g0128 a0002c0002t0142g0068	42	378	0.1111	-14	c.149 others(31): Show c.1492+640_1492+653delATATATATATATAT	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	12/17			chr12	TogoVar
CHGA_chr14_92918150_92940285	92939179	TCAGGAGG others(7): Show TCAGGAGGCAGCGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0005 a0003c0004t0001g0005	1	447	0.0022	-14	c.42 others(25): Show c.4296_*4309delCAGGAGGCAGCGCC	CHGA	ENSG00000100604.13	transcript	ENST00000216492.10	protein_coding		3895		chr14	TogoVar
CHGB_chr20_5906510_5930353	5926088	TATATATA others(7): Show TATATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01981.hp1 HG02071.hp1 others(9): Show HG01943.hp1 HG01981.hp1 HG02071.hp1 HG03669.hp1 HG04199.hp2 NA18946.hp2 NA18974.hp2 NA18994.hp1 NA19000.hp2 NA19002.hp1 NA19067.hp1 NA19085.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0006 a0004c0004t0001 a0001c0001t0001 a0001c0001t0006 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0001g0092 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0001g0092 a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0006g0001 a0004c0004t0001g0003 a0004c0004t0001g0103	12	440	0.0273	-14	c.10 others(25): Show c.1040_*1053delATATATATATATAC	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding		736		chr20	TogoVar
CHL1_chr3_191763_414417	252361	GATATATA others(7): Show GATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02602.hp2 HG03490.hp2 others(1): Show HG01109.hp2 HG02602.hp2 HG03490.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0015 a0001c0001t0003 a0001c0001t0010 a0001c0001t0015	a0001c0001t0003g0254 a0001c0001t0003g0260 a0001c0001t0010g0194 others(1): Show a0001c0001t0003g0254 a0001c0001t0003g0260 a0001c0001t0010g0194 a0001c0001t0015g0120	4	290	0.0138	-14	c.-95 others(31): Show c.-95+7696_-95+7709delATATATATATATAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	314323	CTATGTGT others(7): Show CTATGTGTATATATA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02976.hp2 HG03098.hp1 others(1): Show HG02258.hp1 HG02976.hp2 HG03098.hp1 HG03209.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0010c0009 a0002c0002 a0010c0009	a0002c0002t0001 a0002c0002t0007 a0002c0002t0056 others(1): Show a0002c0002t0001 a0002c0002t0007 a0002c0002t0056 a0010c0009t0047	a0002c0002t0001g0146 a0002c0002t0007g0244 a0002c0002t0056g0040 others(1): Show a0002c0002t0001g0146 a0002c0002t0007g0244 a0002c0002t0056g0040 a0010c0009t0047g0011	4	290	0.0138	-14	c.-94 others(31): Show c.-94-5356_-94-5343delGTGTATATATATAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	314329	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01978.hp1 HG02273.hp1 others(5): Show HG00741.hp2 HG01978.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02572.hp1 HG03471.hp1 HG04115.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0002 a0004c0004 a0005c0005 a0002c0002 a0004c0004 a0005c0005	a0002c0002t0002 a0002c0002t0003 a0004c0004t0002 others(3): Show a0002c0002t0002 a0002c0002t0003 a0004c0004t0002 a0004c0004t0049 a0005c0005t0001 a0005c0005t0003	a0002c0002t0002g0121 a0002c0002t0003g0256 a0004c0004t0002g0090 others(5): Show a0002c0002t0002g0121 a0002c0002t0003g0256 a0004c0004t0002g0090 a0004c0004t0049g0012 a0005c0005t0001g0156 a0005c0005t0003g0209 a0005c0005t0003g0257 a0005c0005t0003g0261	8	290	0.0276	-14	c.-94 others(31): Show c.-94-5326_-94-5313delATATATATATATAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHMP2B_chr3_87222309_87260556	87226589	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(192): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18953.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18985.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19057.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0002t0001 a0001c0002t0008 a0001c0002t0015 a0001c0003t0001 a0001c0003t0018 a0001c0005t0001 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0026 others(80): Show a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0002g0002 a0001c0001t0005g0001 a0001c0001t0005g0137 a0001c0001t0007g0044 a0001c0001t0010g0001 a0001c0001t0011g0001 a0001c0001t0013g0142 a0001c0001t0019g0001 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0020 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0008g0010 a0001c0002t0015g0014 a0001c0003t0001g0004 a0001c0003t0001g0019 a0001c0003t0001g0027 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0018g0054 a0001c0005t0001g0001 a0001c0006t0001g0053	195	414	0.4710	-14	c.-93 others(23): Show c.-933_-920delTGTGTGTGTGTGTG	CHMP2B	ENSG00000083937.10	transcript	ENST00000263780.9	protein_coding		719		chr3	TogoVar
CHMP2B_chr3_87222309_87260556	87244016	GTTTTTTG others(7): Show GTTTTTTGTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	414	0.0024	-14	c.127 others(31): Show c.127-1684_127-1671delTTTTTTTGTTTTTT	CHMP2B	ENSG00000083937.10	transcript	ENST00000263780.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHMP3_chr2_86498430_86568443	86550401	GGGGAGAG others(7): Show GGGGAGAGGGAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG02055.hp2 others(15): Show HG01109.hp2 HG01891.hp2 HG02055.hp2 HG02145.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02970.hp1 HG03098.hp2 HG03139.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0011 a0001c0002t0007 a0001c0002t0011	a0001c0002t0007g0004 a0001c0002t0007g0279 a0001c0002t0007g0297 others(13): Show a0001c0002t0007g0004 a0001c0002t0007g0279 a0001c0002t0007g0297 a0001c0002t0007g0299 a0001c0002t0007g0300 a0001c0002t0007g0301 a0001c0002t0007g0302 a0001c0002t0007g0303 a0001c0002t0007g0304 a0001c0002t0007g0307 a0001c0002t0007g0309 a0001c0002t0011g0281 a0001c0002t0011g0298 a0001c0002t0011g0305 a0001c0002t0011g0306 a0001c0002t0011g0308	18	336	0.0536	-14	c.46- others(29): Show c.46-8103_46-8090delTTTCTCCCTCTCCC	CHMP3	ENSG00000115561.16	transcript	ENST00000263856.9	protein_coding	1/5			chr2	TogoVar
CHMP6_chr17_80986841_81005133	81001763	GGCTGCAG others(7): Show GGCTGCAGACACTTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00609.hp2 others(115): Show HG00140.hp2 HG00280.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp2 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03927.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18945.hp2 NA18947.hp1 NA18957.hp2 NA18962.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18994.hp2 NA19003.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19070.hp1 NA19079.hp2 NA19081.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0019 a0001c0001t0028 a0001c0001t0029 a0001c0002t0005 a0001c0005t0003 a0001c0008t0003 a0002c0003t0006	a0001c0001t0001g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 others(40): Show a0001c0001t0001g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0012 a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0090 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0005g0089 a0001c0001t0006g0060 a0001c0001t0006g0073 a0001c0001t0008g0021 a0001c0001t0008g0023 a0001c0001t0009g0015 a0001c0001t0009g0064 a0001c0001t0010g0023 a0001c0001t0010g0074 a0001c0001t0012g0005 a0001c0001t0014g0004 a0001c0001t0019g0005 a0001c0001t0028g0005 a0001c0001t0029g0015 a0001c0002t0005g0013 a0001c0002t0005g0041 a0001c0002t0005g0042 a0001c0002t0005g0043 a0001c0002t0005g0044 a0001c0002t0005g0045 a0001c0002t0005g0065 a0001c0005t0003g0018 a0001c0008t0003g0018 a0002c0003t0006g0010 a0002c0003t0006g0026 a0002c0003t0006g0037	118	438	0.2694	-14	c.26 others(25): Show c.2611_*2624delGCTGCAGACACTTC	CHMP6	ENSG00000176108.9	transcript	ENST00000325167.9	protein_coding		1631		chr17	TogoVar
CHMP6_chr17_80986841_81005133	81005029	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	438	0.0023	-14	c.58 others(25): Show c.5877_*5890delTGTGTGTGTGTGTG	CHMP6	ENSG00000176108.9	transcript	ENST00000325167.9	protein_coding		4897		chr17	TogoVar
CHMP7_chr8_23238637_23266999	23250620	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00438.hp1 others(77): Show HG00099.hp2 HG00140.hp1 HG00438.hp1 HG00621.hp2 HG00642.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG02004.hp1 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18946.hp1 NA18952.hp1 NA18954.hp2 NA18968.hp1 NA18982.hp1 NA18989.hp2 NA18992.hp2 NA18995.hp1 NA19010.hp2 NA19043.hp2 NA19057.hp1 NA19075.hp2 NA19078.hp1 NA19090.hp2 NA19240.hp2 NA20905.hp1 NA20905.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0004c0007 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0030 a0001c0001t0033 a0001c0003t0001 a0001c0004t0018 a0004c0007t0002 a0005c0005t0003	a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0001g0135 others(56): Show a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0001g0135 a0001c0001t0002g0056 a0001c0001t0002g0311 a0001c0001t0002g0334 a0001c0001t0003g0004 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0134 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0330 a0001c0001t0005g0310 a0001c0001t0007g0228 a0001c0001t0010g0040 a0001c0001t0010g0174 a0001c0001t0011g0171 a0001c0001t0013g0232 a0001c0001t0015g0149 a0001c0001t0015g0160 a0001c0001t0021g0133 a0001c0001t0022g0328 a0001c0001t0022g0329 a0001c0001t0030g0112 a0001c0001t0033g0016 a0001c0003t0001g0013 a0001c0004t0018g0039 a0004c0007t0002g0312 a0005c0005t0003g0151	80	438	0.1827	-14	c.471 others(31): Show c.471+1271_471+1284delGTGTGTGTGTGTGT	CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHM_chrX_85856180_86052558	85897306	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 NA19030.hp2 HG02896.hp1 HG02897.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0009 a0002c0005t0011 a0001c0001t0009 a0002c0005t0011	a0001c0001t0009g0210 a0002c0005t0011g0228 a0002c0005t0011g0229 a0001c0001t0009g0210 a0002c0005t0011g0228 a0002c0005t0011g0229	3	245	0.0122	-14	c.141 others(33): Show c.1414-3036_1414-3023delACACACACACACAC	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	11/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85901703	TAATGTTT others(7): Show TAATGTTTGAAACAG	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	245	0.0041	-14	c.124 others(31): Show c.1245-529_1245-516delCTGTTTCAAACATT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913334	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0226 a0001c0003t0005g0226	1	245	0.0041	-14	c.116 others(33): Show c.1167-2010_1167-1997delCTTTCTTTCTTTCT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85976875	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02280.hp2 HG02922.hp1 others(3): Show HG02135.hp1 HG02280.hp2 HG02922.hp1 NA18972.hp1 NA18973.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0003t0005 a0001c0001t0009 a0001c0003t0005	a0001c0001t0009g0196 a0001c0001t0009g0199 a0001c0003t0005g0118 others(3): Show a0001c0001t0009g0196 a0001c0001t0009g0199 a0001c0003t0005g0118 a0001c0003t0005g0126 a0001c0003t0005g0226 a0001c0003t0005g0227	6	245	0.0245	-14	c.314 others(31): Show c.314+1878_314+1891delGTGTGTGTGTGTGT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	4/14			chrX	TogoVar
CHM_chrX_85856180_86052558	86021126	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02135.hp1 others(3): Show HG01884.hp1 HG02109.hp2 HG02135.hp1 NA18972.hp1 NA18973.hp2 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0009 a0001c0001 a0001c0003 a0005c0009	a0001c0001t0012 a0001c0003t0005 a0005c0009t0012 a0001c0001t0012 a0001c0003t0005 a0005c0009t0012	a0001c0001t0012g0224 a0001c0003t0005g0118 a0001c0003t0005g0126 others(3): Show a0001c0001t0012g0224 a0001c0003t0005g0118 a0001c0003t0005g0126 a0001c0003t0005g0226 a0001c0003t0005g0227 a0005c0009t0012g0225	6	245	0.0245	-14	c.116 others(31): Show c.116+6351_116+6364delTATATATATATATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	2/14			chrX	TogoVar
CHM_chrX_85856180_86052558	86026102	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	245	0.0041	-14	c.116 others(31): Show c.116+1375_116+1388delAAAAAAAAAAAAAA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	2/14			chrX	TogoVar
CHN1_chr2_174793809_175010381	174807446	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG01433.hp1 others(10): Show HG00140.hp2 HG00423.hp1 HG01433.hp1 HG02071.hp2 HG03130.hp2 HG03195.hp1 HG03471.hp2 HG04199.hp1 NA18959.hp2 NA18982.hp1 NA19007.hp1 NA19055.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0172 others(10): Show a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0201 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0252 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0003g0025 a0001c0001t0005g0101 a0001c0001t0006g0050	13	276	0.0471	-14	c.110 others(33): Show c.1102+1445_1102+1458delCACACACACACACA	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	11/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	174990233	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02976.hp2 HG02109.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0137 a0001c0001t0002g0138	2	276	0.0073	-14	c.19+ others(31): Show c.19+14647_19+14660delCACACACACACACA	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	1/12			chr2	TogoVar
CHN1_chr2_174793809_175010381	175004821	CCCCCCAG others(7): Show CCCCCCAGGCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02630.hp2 HG02717.hp1 others(1): Show HG02486.hp2 HG02630.hp2 HG02717.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0275 others(1): Show a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0276	4	276	0.0145	-14	c.19+ others(25): Show c.19+59_19+72delCGGGGGCCTGGGGG	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	1/12			chr2	TogoVar
CHN2_chr7_29189775_29519328	29211450	GCACACAC others(7): Show GCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA19063.hp1 NA18990.hp1 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0007 a0002c0004t0001 a0001c0001t0007 a0002c0004t0001	a0001c0001t0007g0022 a0002c0004t0001g0059 a0001c0001t0007g0022 a0002c0004t0001g0059	2	232	0.0086	-14	c.49+ others(31): Show c.49+16491_49+16504delCACACACACACACA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29301342	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03704.hp2 HG01496.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0222 a0001c0001t0008g0228 a0001c0001t0007g0222 a0001c0001t0008g0228	2	232	0.0086	-14	c.50- others(31): Show c.50-53249_50-53236delCACACACACACACA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29405164	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03471.hp1 NA18906.hp2 HG03195.hp1 HG03471.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0028 a0002c0004t0006 a0002c0004t0012 a0001c0001t0028 a0002c0004t0006 a0002c0004t0012	a0001c0001t0028g0050 a0002c0004t0006g0113 a0002c0004t0012g0180 a0001c0001t0028g0050 a0002c0004t0006g0113 a0002c0004t0012g0180	3	232	0.0129	-14	c.576 others(31): Show c.576+4381_576+4394delACACACACACACAC	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29412335	TTTTTTTT others(7): Show TTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0095 a0001c0002t0004g0095	1	232	0.0043	-14	c.576 others(33): Show c.576+11508_576+11521delTTTTTTTTTTTTTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12			chr7	TogoVar
CHN2_chr7_29189775_29519328	29460511	GGCTTTCT others(7): Show GGCTTTCTAATTCAT	G G	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	232	0.0043	-14	c.577 others(33): Show c.577-19767_577-19754delGCTTTCTAATTCAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12			chr7	TogoVar
CHN2_chr7_29189775_29519328	29482797	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00741.hp1 others(15): Show HG00280.hp2 HG00323.hp1 HG00741.hp1 HG01071.hp2 HG01167.hp1 HG01496.hp2 HG01517.hp1 HG01943.hp2 HG02273.hp2 HG02293.hp2 HG02451.hp2 HG02572.hp2 HG02647.hp2 HG02735.hp2 HG03041.hp2 HG03239.hp2 HG04228.hp1 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0004 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0002 a0001c0002t0004 a0001c0002t0014 a0001c0006t0004 a0002c0004t0006 a0003c0007t0013	a0001c0001t0001g0120 a0001c0001t0001g0188 a0001c0001t0001g0213 others(15): Show a0001c0001t0001g0120 a0001c0001t0001g0188 a0001c0001t0001g0213 a0001c0001t0003g0214 a0001c0001t0005g0133 a0001c0001t0005g0221 a0001c0001t0006g0037 a0001c0001t0006g0066 a0001c0001t0006g0145 a0001c0001t0008g0010 a0001c0001t0008g0228 a0001c0002t0002g0171 a0001c0002t0004g0088 a0001c0002t0004g0169 a0001c0002t0014g0067 a0001c0006t0004g0182 a0002c0004t0006g0201 a0003c0007t0013g0135	18	232	0.0776	-14	c.654 others(31): Show c.654+2470_654+2483delTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHODL_chr21_18239833_18272370	18265249	GTATATAT others(7): Show GTATATATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp2 HG02717.hp2 HG00741.hp2 HG01243.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0026 a0001c0001t0014 a0001c0001t0026	a0001c0001t0014g0304 a0001c0001t0014g0305 a0001c0001t0026g0112 a0001c0001t0014g0304 a0001c0001t0014g0305 a0001c0001t0026g0112	3	402	0.0075	-14	c.738 others(29): Show c.738-691_738-678delATATATATATGTGT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHP1_chr15_41226268_41286887	41265363	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	298	0.0034	-14	c.349 others(31): Show c.349+2499_349+2512delAAAAAAAAAAAAAA	CHP1	ENSG00000187446.12	transcript	ENST00000334660.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHP2_chr16_23750026_23763935	23750925	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	-14	c.-41 others(25): Show c.-4124_-4111delTTTCTTTCTTTCTT	CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding		4100		chr16	TogoVar
CHRDL1_chrX_110668856_110800817	110669080	TTATATAT others(7): Show TTATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01358.hp1 HG04204.hp1 others(1): Show HG01192.hp1 HG01358.hp1 HG04204.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0019 a0001c0001t0005 a0001c0001t0010 a0001c0001t0019	a0001c0001t0005g0089 a0001c0001t0010g0054 a0001c0001t0010g0162 others(1): Show a0001c0001t0005g0089 a0001c0001t0010g0054 a0001c0001t0010g0162 a0001c0001t0019g0137	4	172	0.0233	-14	c.71 others(25): Show c.7137_*7150delTATATATATATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding		4775		chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110697814	CCACACAC others(7): Show CCACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02083.hp1 HG02809.hp2 others(4): Show HG01258.hp1 HG02083.hp1 HG02809.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG06807.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0012 a0001c0002t0004 a0001c0002t0007 others(3): Show a0001c0001t0012 a0001c0002t0004 a0001c0002t0007 a0001c0002t0011 a0002c0003t0047 a0003c0004t0048	a0001c0001t0012g0131 a0001c0002t0004g0032 a0001c0002t0004g0151 others(4): Show a0001c0001t0012g0131 a0001c0002t0004g0032 a0001c0002t0004g0151 a0001c0002t0007g0122 a0001c0002t0011g0009 a0002c0003t0047g0127 a0003c0004t0048g0145	7	172	0.0407	-14	c.609 others(31): Show c.609+2826_609+2839delTGTGTGTGTGTGTG	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	7/11			chrX	TogoVar
CHRDL2_chr11_74691429_74736426	74719381	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	392	0.0026	-14	c.83- others(27): Show c.83-563_83-550delGTGTGTGTGTGTGT	CHRDL2	ENSG00000054938.17	transcript	ENST00000376332.8	protein_coding	1/10			chr11	TogoVar
CHRD_chr3_184375054_184394829	184385666	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0165 a0003c0005t0001g0165	1	428	0.0023	-14	c.181 others(31): Show c.1819-364_1819-351delAAAAAAAAAAAAAA	CHRD	ENSG00000090539.16	transcript	ENST00000204604.6	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHRM1_chr11_62903679_62926363	62924660	CTCTCTCT others(7): Show CTCTCTCTCTATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	420	0.0024	-14	c.-35 others(25): Show c.-3535_-3522delTATATAGAGAGAGA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3298		chr11	TogoVar
CHRM1_chr11_62903679_62926363	62924662	CTCTCTCT others(7): Show CTCTCTCTATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG02145.hp1 HG01928.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0005 a0001c0002t0001g0007 a0001c0001t0001g0005 a0001c0002t0001g0007	2	420	0.0048	-14	c.-35 others(25): Show c.-3537_-3524delTATATATAGAGAGA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3300		chr11	TogoVar
CHRM1_chr11_62903679_62926363	62924664	CTCTCTAT others(7): Show CTCTCTATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG06807.hp2 NA20300.hp1 HG02257.hp1 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0002 a0001c0001t0001g0004	3	420	0.0071	-14	c.-35 others(25): Show c.-3539_-3526delTATATATATAGAGA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3302		chr11	TogoVar
CHRM1_chr11_62903679_62926363	62924668	CTATATAT others(7): Show CTATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 NA18982.hp2 HG06807.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0004 a0001c0001t0001g0008	2	420	0.0048	-14	c.-35 others(25): Show c.-3543_-3530delTATATATATATATA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3306		chr11	TogoVar
CHRM2_chr7_136863652_137025213	136938915	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00558.hp2 others(46): Show HG00099.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01243.hp1 HG01258.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01943.hp2 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02717.hp2 HG02735.hp1 HG03130.hp2 HG03453.hp2 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18942.hp1 NA18950.hp1 NA18952.hp2 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18964.hp2 NA18968.hp2 NA18970.hp2 NA18973.hp1 NA18980.hp2 NA19057.hp1 NA19072.hp2 NA19085.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0019 a0001c0001t0029 a0001c0001t0034 a0001c0001t0036 a0001c0001t0042 a0001c0001t0052 a0001c0001t0057 a0001c0001t0063 a0001c0001t0081	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0189 others(46): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0207 a0001c0001t0001g0286 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0137 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0201 a0001c0001t0003g0224 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0242 a0001c0001t0004g0079 a0001c0001t0004g0082 a0001c0001t0004g0119 a0001c0001t0004g0184 a0001c0001t0005g0024 a0001c0001t0005g0149 a0001c0001t0005g0182 a0001c0001t0005g0269 a0001c0001t0005g0310 a0001c0001t0006g0153 a0001c0001t0006g0185 a0001c0001t0006g0212 a0001c0001t0006g0226 a0001c0001t0006g0229 a0001c0001t0009g0296 a0001c0001t0009g0298 a0001c0001t0009g0304 a0001c0001t0010g0022 a0001c0001t0012g0055 a0001c0001t0012g0061 a0001c0001t0012g0063 a0001c0001t0019g0315 a0001c0001t0029g0292 a0001c0001t0034g0143 a0001c0001t0036g0056 a0001c0001t0042g0225 a0001c0001t0052g0206 a0001c0001t0057g0214 a0001c0001t0063g0283 a0001c0001t0081g0017	49	320	0.1531	-14	c.-12 others(35): Show c.-124-53237_-124-53224delAAAAAAAAAAAAAA	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar

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