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
CLYBL_chr13_99601690_99897570	99695566	C C	CTGGCGTG others(4): Show CTGGCGTGATCT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0176 a0003c0003t0001g0176	1	218	0.0046	11	c.63- others(28): Show c.63-77255_63-77254insCGTGATCTTGG	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99716169	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01361.hp1 HG00741.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0161 a0001c0001t0001g0127 a0001c0001t0001g0161	2	218	0.0092	11	c.63- others(28): Show c.63-56627_63-56617dupTTTTTTTTTTT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99784449	C C	CTCTTTTT others(4): Show CTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp2 HG03710.hp2 others(3): Show HG00280.hp1 HG00673.hp2 HG03710.hp2 HG04184.hp2 NA19054.hp2 NA19060.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0051 a0001c0001t0001g0124 a0001c0001t0001g0156 others(3): Show a0001c0001t0001g0051 a0001c0001t0001g0124 a0001c0001t0001g0156 a0001c0001t0001g0175 a0001c0001t0001g0194 a0004c0004t0001g0130	6	218	0.0275	11	c.249 others(30): Show c.249+11440_249+11441insCTTTTTTTTTT	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLYBL_chr13_99601690_99897570	99833031	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02886.hp1 NA18947.hp2 others(1): Show HG01943.hp1 HG02886.hp1 NA18947.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0081 a0001c0001t0001g0097 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0081 a0001c0001t0001g0097 a0001c0001t0001g0100	4	218	0.0184	11	c.250 others(30): Show c.250-25830_250-25829insATATATATATA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	2/8			chr13	TogoVar
CLYBL_chr13_99601690_99897570	99880069	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	218	0.0046	11	c.927 others(28): Show c.927+9007_927+9008insATATATATATA	CLYBL	ENSG00000125246.16	transcript	ENST00000339105.9	protein_coding	7/8			chr13	TogoVar
CMAS_chr12_22041218_22070668	22060333	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG00597.hp2 others(61): Show HG00423.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01255.hp1 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01975.hp2 HG01981.hp2 HG02027.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02258.hp2 HG02293.hp2 HG02451.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp2 NA18940.hp1 NA18940.hp2 NA18950.hp1 NA18961.hp2 NA18962.hp1 NA18970.hp1 NA18974.hp2 NA18975.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18998.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19057.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19076.hp2 NA19078.hp1 NA19090.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0004t0002	a0001c0001t0001g0011 a0001c0001t0001g0057 a0001c0001t0001g0060 others(47): Show a0001c0001t0001g0011 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0128 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0027 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0113 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0223 a0001c0001t0003g0226 a0001c0002t0001g0056 a0001c0002t0001g0219 a0001c0002t0001g0222 a0001c0002t0001g0238 a0001c0002t0001g0241 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0251 a0001c0002t0001g0255 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0263 a0001c0002t0001g0269 a0001c0002t0001g0275 a0001c0004t0002g0101	64	450	0.1422	11	c.694 others(26): Show c.694-482_694-472dupAAAAAAAAAAA	CMAS	ENSG00000111726.13	transcript	ENST00000229329.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
CMBL_chr5_10272595_10312902	10308390	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01123.hp1 HG01243.hp1 others(3): Show HG01071.hp1 HG01123.hp1 HG01243.hp1 HG01515.hp1 HG03710.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0001t0007 a0001c0002t0002 a0001c0002t0003 a0001c0002t0025	a0001c0001t0007g0036 a0001c0002t0002g0037 a0001c0002t0003g0038 others(2): Show a0001c0001t0007g0036 a0001c0002t0002g0037 a0001c0002t0003g0038 a0001c0002t0003g0242 a0001c0002t0025g0225	6	350	0.0171	11	c.-78 others(20): Show c.-786_-785insAAAAAAAAAAA	CMBL	ENSG00000164237.9	transcript	ENST00000296658.4	protein_coding		489		chr5	TogoVar
CMC1_chr3_28236619_28330142	28274206	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01517.hp2 HG02083.hp2 others(9): Show HG01081.hp2 HG01517.hp2 HG02083.hp2 HG02683.hp1 HG02717.hp2 HG03710.hp2 NA18962.hp2 NA18971.hp2 NA18975.hp2 NA19058.hp1 NA19077.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012	a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0192 others(9): Show a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0223 a0001c0001t0001g0233 a0001c0001t0003g0027 a0001c0001t0005g0199 a0001c0001t0005g0244 a0001c0001t0012g0237	12	338	0.0355	11	c.109 others(30): Show c.109+10831_109+10832insTTTTTTTTTTT	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMC2_chr16_80961448_81011885	80963722	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00597.hp1 others(78): Show HG00408.hp1 HG00438.hp2 HG00597.hp1 HG01074.hp1 HG01255.hp1 HG01496.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02523.hp1 HG02572.hp1 HG03130.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03831.hp2 HG03942.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18948.hp1 NA18951.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18965.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp2 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0016 a0001c0001t0048 a0001c0001t0122 others(26): Show a0001c0001t0016 a0001c0001t0048 a0001c0001t0122 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0011 a0002c0002t0012 a0002c0002t0015 a0002c0002t0022 a0002c0002t0031 a0002c0002t0034 a0002c0002t0035 a0002c0002t0037 a0002c0002t0039 a0002c0002t0061 a0002c0002t0069 a0002c0002t0072 a0002c0002t0073 a0002c0002t0076 a0002c0002t0077 a0002c0002t0078 a0002c0002t0079 a0002c0002t0085 a0002c0002t0086 a0002c0002t0162 a0002c0002t0167	a0001c0001t0016g0020 a0001c0001t0048g0255 a0001c0001t0048g0257 others(60): Show a0001c0001t0016g0020 a0001c0001t0048g0255 a0001c0001t0048g0257 a0001c0001t0122g0153 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0075 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0094 a0002c0002t0002g0098 a0002c0002t0002g0285 a0002c0002t0003g0002 a0002c0002t0003g0021 a0002c0002t0003g0051 a0002c0002t0003g0294 a0002c0002t0004g0010 a0002c0002t0004g0119 a0002c0002t0004g0120 a0002c0002t0004g0121 a0002c0002t0004g0130 a0002c0002t0004g0142 a0002c0002t0004g0146 a0002c0002t0004g0149 a0002c0002t0004g0244 a0002c0002t0004g0258 a0002c0002t0006g0009 a0002c0002t0006g0066 a0002c0002t0007g0031 a0002c0002t0007g0117 a0002c0002t0007g0131 a0002c0002t0007g0139 a0002c0002t0011g0032 a0002c0002t0011g0151 a0002c0002t0012g0006 a0002c0002t0012g0157 a0002c0002t0015g0030 a0002c0002t0015g0136 a0002c0002t0015g0138 a0002c0002t0022g0137 a0002c0002t0022g0148 a0002c0002t0031g0059 a0002c0002t0034g0154 a0002c0002t0035g0132 a0002c0002t0037g0026 a0002c0002t0039g0080 a0002c0002t0039g0099 a0002c0002t0061g0088 a0002c0002t0069g0127 a0002c0002t0072g0135 a0002c0002t0073g0126 a0002c0002t0076g0129 a0002c0002t0077g0124 a0002c0002t0078g0133 a0002c0002t0079g0141 a0002c0002t0085g0072 a0002c0002t0086g0087 a0002c0002t0162g0292 a0002c0002t0167g0291	81	408	0.1985	11	c.12 others(24): Show c.12370_*12371insTTTTTTTTTTT	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		2725		chr16	TogoVar
CMC2_chr16_80961448_81011885	80965181	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0105 a0002c0002t0105	a0002c0002t0105g0166 a0002c0002t0105g0166	1	408	0.0025	11	c.10 others(24): Show c.10911_*10912insTTTTTTTTTTT	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1266		chr16	TogoVar
CMC2_chr16_80961448_81011885	80965194	A A	ATATATAT others(4): Show ATATATATATGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01891.hp1 HG02109.hp2 others(5): Show HG01081.hp1 HG01891.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp2 HG02970.hp2 HG03516.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0129 a0001c0001t0132 a0001c0001t0133 others(5): Show a0001c0001t0129 a0001c0001t0132 a0001c0001t0133 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0156	a0001c0001t0129g0236 a0001c0001t0132g0272 a0001c0001t0133g0242 others(5): Show a0001c0001t0129g0236 a0001c0001t0132g0272 a0001c0001t0133g0242 a0001c0001t0135g0237 a0001c0001t0136g0238 a0001c0001t0137g0239 a0001c0001t0138g0240 a0001c0001t0156g0243	8	408	0.0196	11	c.10 others(24): Show c.10898_*10899insGCATATATATA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1253		chr16	TogoVar
CMC2_chr16_80961448_81011885	80965200	A A	AAAAATAT others(4): Show AAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0118 a0002c0002t0007g0118	1	408	0.0025	11	c.10 others(24): Show c.10892_*10893insATATATATTTT	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1247		chr16	TogoVar
CMC2_chr16_80961448_81011885	80965200	A A	AAATATAT others(4): Show AAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0257 a0001c0001t0048g0257	1	408	0.0025	11	c.10 others(24): Show c.10892_*10893insATATATATATT	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1247		chr16	TogoVar
CMC2_chr16_80961448_81011885	80965200	A A	ATATATAT others(4): Show ATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 NA18979.hp1 HG02015.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0065 a0002c0002t0079 a0002c0002t0065 a0002c0002t0079	a0002c0002t0065g0116 a0002c0002t0079g0141 a0002c0002t0065g0116 a0002c0002t0079g0141	2	408	0.0049	11	c.10 others(24): Show c.10892_*10893insATATATATATA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1247		chr16	TogoVar
CMC2_chr16_80961448_81011885	80965217	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0060 a0002c0002t0060	a0002c0002t0060g0310 a0002c0002t0060g0310	1	408	0.0025	11	c.10 others(24): Show c.10875_*10876insAAAAAAAAAAA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1230		chr16	TogoVar
CMC2_chr16_80961448_81011885	80965239	A A	ATGTTTTT others(4): Show ATGTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA19004.hp2 NA18981.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	408	0.0049	11	c.10 others(24): Show c.10853_*10854insAAAAAAAAACA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1208		chr16	TogoVar
CMC2_chr16_80961448_81011885	80965245	G G	GTTTTTTT others(4): Show GTTTTTTTTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18986.hp2 NA19056.hp2 NA18975.hp1 NA18986.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0042 a0001c0001t0001 a0001c0001t0042	a0001c0001t0001g0283 a0001c0001t0042g0041 a0001c0001t0001g0283 a0001c0001t0042g0041	3	408	0.0074	11	c.10 others(24): Show c.10847_*10848insACAAAAAAAAA	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1202		chr16	TogoVar
CMC2_chr16_80961448_81011885	80971562	T T	TATATATA others(4): Show TATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01975.hp1 NA19010.hp1 NA19089.hp1 HG01975.hp1 NA19010.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0130 a0001c0001t0140 a0001c0001t0151 a0001c0001t0130 a0001c0001t0140 a0001c0001t0151	a0001c0001t0130g0263 a0001c0001t0140g0260 a0001c0001t0151g0182 a0001c0001t0130g0263 a0001c0001t0140g0260 a0001c0001t0151g0182	3	408	0.0074	11	c.45 others(22): Show c.4530_*4531insTATATATATAT	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding	4/4	4530		chr16	TogoVar
CMC2_chr16_80961448_81011885	80985901	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00621.hp1 others(15): Show HG00408.hp1 HG00558.hp2 HG00621.hp1 HG01981.hp1 HG02015.hp1 HG02074.hp2 HG02602.hp1 HG03831.hp2 HG03942.hp1 NA18978.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA19068.hp1 NA19084.hp1 NA19087.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0007 a0002c0002t0015 others(6): Show a0002c0002t0004 a0002c0002t0007 a0002c0002t0015 a0002c0002t0022 a0002c0002t0034 a0002c0002t0074 a0002c0002t0075 a0002c0002t0079 a0002c0002t0080	a0002c0002t0004g0123 a0002c0002t0004g0142 a0002c0002t0004g0146 others(14): Show a0002c0002t0004g0123 a0002c0002t0004g0142 a0002c0002t0004g0146 a0002c0002t0004g0149 a0002c0002t0004g0244 a0002c0002t0007g0031 a0002c0002t0007g0117 a0002c0002t0007g0139 a0002c0002t0015g0136 a0002c0002t0015g0138 a0002c0002t0022g0114 a0002c0002t0022g0137 a0002c0002t0034g0115 a0002c0002t0074g0140 a0002c0002t0075g0122 a0002c0002t0079g0141 a0002c0002t0080g0145	18	408	0.0441	11	c.82- others(26): Show c.82-4035_82-4025dupTTTTTTTTTTT	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding	2/3			chr16	TogoVar
CMC4_chrX_155056622_155076136	155061439	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	292	0.0069	11	c.40 others(20): Show c.403_*404insTTTTTTTTTTT	CMC4	ENSG00000182712.16	transcript	ENST00000369484.8	protein_coding		182		chrX	TogoVar
CMIP_chr16_81439808_81716762	81548418	G G	GTACCAGC others(4): Show GTACCAGCCAGC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	268	0.0037	11	c.301 others(30): Show c.301-59149_301-59148insTACCAGCCAGC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20			chr16	TogoVar
CMIP_chr16_81439808_81716762	81580946	C C	CCAGCCGC others(4): Show CCAGCCGCCTGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01168.hp2 HG01243.hp1 others(15): Show HG01081.hp2 HG01168.hp2 HG01243.hp1 HG01433.hp1 HG01884.hp1 HG01891.hp1 HG02451.hp2 HG02622.hp1 HG02622.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03139.hp2 HG03453.hp2 HG03579.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0016 a0001c0001t0025 a0001c0002t0001	a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0164 others(15): Show a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0205 a0001c0001t0003g0002 a0001c0001t0004g0095 a0001c0001t0004g0111 a0001c0001t0004g0120 a0001c0001t0006g0126 a0001c0001t0006g0210 a0001c0001t0010g0006 a0001c0001t0016g0217 a0001c0001t0025g0191 a0001c0002t0001g0192	18	268	0.0672	11	c.301 others(30): Show c.301-26616_301-26615insGCCTGACAGCC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81580946	C C	CCAGCCGT others(4): Show CCAGCCGTCTGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01168.hp1 HG01169.hp2 others(6): Show HG01109.hp2 HG01168.hp1 HG01169.hp2 HG02109.hp2 HG03098.hp2 HG03225.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0022 a0001c0001t0024	a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0173 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0173 a0001c0001t0001g0188 a0001c0001t0001g0260 a0001c0001t0006g0198 a0001c0001t0014g0267 a0001c0001t0022g0181 a0001c0001t0024g0047	9	268	0.0336	11	c.301 others(30): Show c.301-26616_301-26615insGTCTGACAGCC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMKLR2_chr2_206170316_206218371	206171708	C C	CTCCCGGA others(4): Show CTCCCGGACGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0210 a0002c0002t0001g0210	1	322	0.0031	11	c.44 others(22): Show c.4471_*4472insCCCGTCCGGGA	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		3607		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206207728	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01069.hp1 others(38): Show HG00280.hp1 HG00642.hp1 HG01069.hp1 HG01106.hp1 HG01123.hp2 HG01346.hp1 HG01346.hp2 HG01993.hp2 HG02040.hp2 HG02074.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG04184.hp1 HG04228.hp1 NA18522.hp2 NA18943.hp2 NA18948.hp2 NA18962.hp2 NA18966.hp2 NA18968.hp1 NA18990.hp1 NA19000.hp1 NA19003.hp1 NA19043.hp1 NA19057.hp1 NA19060.hp2 NA19066.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0002c0003t0001 a0002c0003t0003	a0001c0001t0001g0020 a0001c0001t0001g0051 a0001c0001t0001g0052 others(38): Show a0001c0001t0001g0020 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0223 a0001c0001t0002g0050 a0001c0001t0005g0311 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0139 a0002c0002t0001g0142 a0002c0003t0001g0016 a0002c0003t0003g0077	41	322	0.1273	11	c.-29 others(28): Show c.-29+5568_-29+5578dupAAAAAAAAAAA	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding	1/1			chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206214165	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01099.hp1 HG01192.hp1 others(1): Show HG00741.hp1 HG01099.hp1 HG01192.hp1 HG04228.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0236 a0002c0003t0003g0237 a0002c0003t0003g0238 others(1): Show a0002c0003t0003g0236 a0002c0003t0003g0237 a0002c0003t0003g0238 a0002c0003t0003g0250	4	322	0.0124	11	c.-89 others(20): Show c.-898_-888dupAAAAAAAAAAA	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		795		chr2	TogoVar
CMPK1_chr1_47328790_47383839	47365633	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02055.hp2 HG02615.hp2 others(4): Show HG01358.hp2 HG02055.hp2 HG02615.hp2 HG02738.hp2 HG02809.hp2 HG04199.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 others(4): Show a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0301 a0001c0001t0001g0312 a0002c0002t0001g0304	7	364	0.0192	11	c.172 others(28): Show c.172-2829_172-2819dupAAAAAAAAAAA	CMPK1	ENSG00000162368.15	transcript	ENST00000371873.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CMPK1_chr1_47328790_47383839	47380250	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02630.hp2 HG02723.hp2 others(7): Show HG00639.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG03041.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp1 NA18981.hp1 NA19003.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0013 a0002c0002t0001 a0001c0001t0005 a0001c0001t0013 a0002c0002t0001	a0001c0001t0005g0003 a0001c0001t0005g0117 a0001c0001t0005g0118 others(6): Show a0001c0001t0005g0003 a0001c0001t0005g0117 a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0013g0003 a0002c0002t0001g0208 a0002c0002t0001g0218	10	364	0.0275	11	c.35 others(22): Show c.3505_*3506insTTTTTTTTTTT	CMPK1	ENSG00000162368.15	transcript	ENST00000371873.10	protein_coding		1412		chr1	TogoVar
CMSS1_chr3_99812862_100186732	99957693	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01071.hp2 HG01934.hp2 others(16): Show HG00280.hp2 HG01071.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG02280.hp1 HG02293.hp1 HG02486.hp1 HG02630.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03195.hp2 HG03225.hp2 HG03540.hp2 HG03654.hp1 HG03831.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0021 a0002c0002t0003	a0001c0001t0001g0176 a0001c0001t0001g0200 a0001c0001t0001g0219 others(16): Show a0001c0001t0001g0176 a0001c0001t0001g0200 a0001c0001t0001g0219 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0004g0164 a0001c0001t0005g0178 a0001c0001t0007g0032 a0001c0001t0014g0223 a0001c0001t0015g0230 a0001c0001t0021g0018 a0002c0002t0003g0184	19	232	0.0819	11	c.64+ others(30): Show c.64+139668_64+139678dupTTTTTTTTTTT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	100074675	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01978.hp1 HG02622.hp2 others(9): Show HG01168.hp1 HG01978.hp1 HG02622.hp2 HG03492.hp2 HG03704.hp1 HG03831.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 NA18970.hp2 NA19065.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0014	a0001c0001t0001g0185 a0001c0001t0001g0204 a0001c0001t0001g0214 others(9): Show a0001c0001t0001g0185 a0001c0001t0001g0204 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0229 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0007g0029 a0001c0001t0014g0223	12	232	0.0517	11	c.65- others(28): Show c.65-72272_65-72262dupTTTTTTTTTTT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM2_chr16_66574463_66593275	66582915	C C	CAAACCTG others(4): Show CAAACCTGCACA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0040 a0002c0003t0001g0040	1	410	0.0024	11	c.444 others(28): Show c.444+2734_444+2744dupACCTGCACAAA	CMTM2	ENSG00000140932.10	transcript	ENST00000268595.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMTM2_chr16_66574463_66593275	66589828	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02970.hp1 NA18522.hp1 HG02559.hp1 HG02970.hp1 NA18522.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0003 a0005c0008 a0002c0002 a0002c0003 a0005c0008	a0002c0002t0001 a0002c0003t0001 a0005c0008t0001 a0002c0002t0001 a0002c0003t0001 a0005c0008t0001	a0002c0002t0001g0018 a0002c0003t0001g0009 a0005c0008t0001g0009 a0002c0002t0001g0018 a0002c0003t0001g0009 a0005c0008t0001g0009	3	410	0.0073	11	c.17 others(22): Show c.1709_*1710insAAAAAAAAAAA	CMTM2	ENSG00000140932.10	transcript	ENST00000268595.3	protein_coding		1554		chr16	TogoVar
CMTM3_chr16_66599704_66618887	66600136	G G	GGGGGGGG others(4): Show GGGGGGGGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	426	0.0024	11	c.-46 others(22): Show c.-4670_-4669insGGGGGGGCGGT	CMTM3	ENSG00000140931.20	transcript	ENST00000567572.6	protein_coding		4567		chr16	TogoVar
CMTM7_chr3_32386853_32460528	32457633	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02647.hp2 HG02148.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0290 a0001c0001t0001g0229 a0001c0001t0001g0290	2	368	0.0054	11	c.33 others(22): Show c.3379_*3380insAAAAAAAAAAA	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding		2106		chr3	TogoVar
CMTM8_chr3_32233680_32375321	32303738	T T	TTTTACAT others(4): Show TTTTACATCTGG	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	344	0.0029	11	c.148 others(30): Show c.148-53631_148-53621dupACATCTGGTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319072	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03139.hp2 HG00423.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0109 a0001c0001t0001g0057 a0001c0001t0001g0109	2	344	0.0058	11	c.148 others(30): Show c.148-38300_148-38299insTTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATATTT others(4): Show ATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02897.hp1 HG03139.hp1 HG01109.hp2 HG02897.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0173 a0001c0001t0001g0193 a0001c0001t0001g0013 a0001c0001t0001g0173 a0001c0001t0001g0193	3	344	0.0087	11	c.148 others(30): Show c.148-38298_148-38297insATATTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATATTTTT others(4): Show ATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02451.hp1 HG02809.hp2 HG00609.hp2 HG02451.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0100 a0001c0001t0001g0293 a0001c0001t0001g0054 a0001c0001t0001g0100 a0001c0001t0001g0293	3	344	0.0087	11	c.148 others(30): Show c.148-38298_148-38297insATTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319074	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18964.hp1 NA18974.hp2 others(2): Show HG00558.hp1 NA18964.hp1 NA18974.hp2 NA19070.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0102 a0001c0001t0001g0104 others(2): Show a0001c0001t0001g0066 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0325	5	344	0.0145	11	c.148 others(30): Show c.148-38288_148-38278dupTTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32319075	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02622.hp2 HG02145.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0160 a0001c0001t0001g0162	2	344	0.0058	11	c.148 others(30): Show c.148-38298_148-38297insATATATATATA	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3			chr3	TogoVar
CMTM8_chr3_32233680_32375321	32348529	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01255.hp2 others(9): Show HG01070.hp1 HG01071.hp1 HG01255.hp2 HG01361.hp1 HG01928.hp2 HG01934.hp2 HG01993.hp2 HG02055.hp2 HG02135.hp2 HG02257.hp2 HG02293.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0163 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0001g0282 a0001c0001t0002g0266 a0001c0001t0002g0270 a0001c0001t0002g0278 a0001c0001t0002g0279	12	344	0.0349	11	c.148 others(28): Show c.148-8841_148-8831dupTTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTM8_chr3_32233680_32375321	32362046	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02451.hp1 HG02622.hp1 others(7): Show HG01081.hp2 HG02451.hp1 HG02622.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG03471.hp1 NA19030.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0058 others(7): Show a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0058 a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0001g0202 a0001c0001t0001g0230 a0001c0001t0001g0293	10	344	0.0291	11	c.321 others(28): Show c.321+4501_321+4511dupTTTTTTTTTTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMTR1_chr6_37428221_37486508	37485561	C C	CCGTGAAC others(4): Show CCGTGAACGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0270	1	358	0.0028	11	c.54 others(22): Show c.5416_*5417insCGTGAACGCCA	CMTR1	ENSG00000137200.13	transcript	ENST00000373451.9	protein_coding		4054		chr6	TogoVar
CMTR2_chr16_71276392_71294402	71289649	G G	GAGGGGAG others(4): Show GAGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0013 a0004c0005t0013	a0004c0005t0013g0022 a0004c0005t0013g0022	1	437	0.0023	11	c.-59 others(20): Show c.-594_-593insTCCCCTCCCCT	CMTR2	ENSG00000180917.18	transcript	ENST00000434935.7	protein_coding		248		chr16	TogoVar
CMYA5_chr5_79684836_79805222	79688942	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG02109.hp1 others(3): Show HG00735.hp2 HG01081.hp2 HG02109.hp1 HG02683.hp1 HG06807.hp2 NA19082.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0073	a0001c0001 a0001c0013 a0002c0002 others(2): Show a0001c0001 a0001c0013 a0002c0002 a0005c0077 a0073c0076	a0001c0001t0001 a0001c0013t0003 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0013t0003 a0002c0002t0002 a0005c0077t0001 a0073c0076t0001	a0001c0001t0001g0065 a0001c0001t0001g0097 a0001c0013t0003g0087 others(3): Show a0001c0001t0001g0065 a0001c0001t0001g0097 a0001c0013t0003g0087 a0002c0002t0002g0334 a0005c0077t0001g0221 a0073c0076t0001g0101	6	358	0.0168	11	c.-96 others(20): Show c.-966_-965insAAAAAAAAAAA	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding		893		chr5	TogoVar
CMYA5_chr5_79684836_79805222	79726909	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02165.hp1 HG03688.hp2 others(9): Show HG00438.hp2 HG02165.hp1 HG03688.hp2 NA18965.hp2 NA18969.hp2 NA18977.hp1 NA18988.hp1 NA18989.hp1 NA18993.hp1 NA18994.hp2 NA19009.hp1 NA19074.hp2	a0004 a0042 a0057 a0004 a0042 a0057	a0004c0006 a0004c0011 a0004c0014 others(2): Show a0004c0006 a0004c0011 a0004c0014 a0042c0029 a0057c0111	a0004c0006t0002 a0004c0006t0003 a0004c0011t0001 others(3): Show a0004c0006t0002 a0004c0006t0003 a0004c0011t0001 a0004c0014t0002 a0042c0029t0001 a0057c0111t0002	a0004c0006t0002g0249 a0004c0006t0003g0236 a0004c0006t0003g0258 others(9): Show a0004c0006t0002g0249 a0004c0006t0003g0236 a0004c0006t0003g0258 a0004c0011t0001g0206 a0004c0011t0001g0277 a0004c0014t0002g0119 a0004c0014t0002g0158 a0004c0014t0002g0227 a0004c0014t0002g0244 a0042c0029t0001g0108 a0042c0029t0001g0109 a0057c0111t0002g0321	12	358	0.0335	11	c.150 others(28): Show c.150-1993_150-1983dupTTTTTTTTTTT	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNBD1_chr8_86861415_87387859	86894035	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	152	0.0066	11	c.158 others(28): Show c.158+6451_158+6461dupTTTTTTTTTTT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	86940132	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	152	0.0066	11	c.431 others(26): Show c.431+387_431+397dupTTTTTTTTTTT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	86951581	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03579.hp1 NA18980.hp2 HG02896.hp1 HG03579.hp1 NA18980.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0003 a0001c0001 a0003c0004 a0004c0003	a0001c0001t0001 a0003c0004t0001 a0004c0003t0001 a0001c0001t0001 a0003c0004t0001 a0004c0003t0001	a0001c0001t0001g0127 a0003c0004t0001g0149 a0004c0003t0001g0006 a0001c0001t0001g0127 a0003c0004t0001g0149 a0004c0003t0001g0006	3	152	0.0197	11	c.431 others(30): Show c.431+11855_431+11865dupAAAAAAAAAAA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	86977261	A A	AGTGAAGT others(4): Show AGTGAAGTTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(147): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01515.hp1 HG01515.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18980.hp1 NA18980.hp2 NA18988.hp1 NA18988.hp2 NA19002.hp1 NA19002.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp1 NA19062.hp2 NA19081.hp1 NA19081.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0006 a0001c0008 others(8): Show a0001c0001 a0001c0006 a0001c0008 a0002c0002 a0002c0005 a0003c0004 a0004c0003 a0005c0007 a0006c0009 a0007c0010 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0006t0001 a0001c0008t0001 a0002c0002t0001 a0002c0005t0001 a0003c0004t0001 a0004c0003t0001 a0004c0003t0002 a0005c0007t0002 a0006c0009t0001 a0007c0010t0002 a0008c0011t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 others(147): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0002g0003 a0001c0001t0002g0069 a0001c0001t0003g0111 a0001c0001t0003g0134 a0001c0001t0004g0116 a0001c0006t0001g0040 a0001c0006t0001g0098 a0001c0008t0001g0147 a0002c0002t0001g0080 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0093 a0002c0002t0001g0150 a0002c0005t0001g0082 a0002c0005t0001g0084 a0002c0005t0001g0086 a0003c0004t0001g0068 a0003c0004t0001g0145 a0003c0004t0001g0148 a0003c0004t0001g0149 a0004c0003t0001g0006 a0004c0003t0001g0008 a0004c0003t0001g0009 a0004c0003t0002g0007 a0005c0007t0002g0144 a0006c0009t0001g0089 a0007c0010t0002g0072 a0008c0011t0001g0036	150	152	0.9868	11	c.431 others(30): Show c.431+37507_431+37508insGTGAAGTTTTC	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10			chr8	TogoVar

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