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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0056 a0001c0001t0041g0056	1	146	0.0069	20	c.62- others(39): Show c.62-366855_62-366854insATATATATTTTTTTTTTTTT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85471687	C C	CATTTTAT others(13): Show CATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02486.hp2 HG02809.hp2 others(8): Show HG00423.hp1 HG02486.hp2 HG02809.hp2 HG02818.hp2 HG03704.hp2 HG03927.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18984.hp2 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0043 a0001c0002t0046 a0002c0005t0004	a0001c0001t0002g0138 a0001c0001t0003g0050 a0001c0001t0004g0053 others(8): Show a0001c0001t0002g0138 a0001c0001t0003g0050 a0001c0001t0004g0053 a0001c0001t0004g0075 a0001c0001t0009g0066 a0001c0001t0012g0086 a0001c0001t0015g0133 a0001c0001t0018g0035 a0001c0001t0043g0060 a0001c0002t0046g0139 a0002c0005t0004g0058	11	146	0.0753	20	c.62- others(39): Show c.62-254816_62-254797dupTTATTTTATTTTATTTTATT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85541773	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02970.hp2 HG03130.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0023 a0001c0001t0002 a0001c0001t0020 a0001c0001t0023	a0001c0001t0002g0136 a0001c0001t0020g0097 a0001c0001t0023g0006 a0001c0001t0002g0136 a0001c0001t0020g0097 a0001c0001t0023g0006	3	146	0.0206	20	c.62- others(39): Show c.62-184748_62-184747insATATATATATATATATATAT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85543420	A A	ATGTGTGT others(13): Show ATGTGTGTGGGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	146	0.0069	20	c.62- others(39): Show c.62-183094_62-183093insGGTGTGTGTGTGTGTGTGTG		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85543425	T T	TGTGGGGG others(13): Show TGTGGGGGTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG02630.hp1 others(3): Show HG01243.hp1 HG02258.hp2 HG02630.hp1 HG02895.hp2 HG03579.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0023 a0001c0001t0050	a0001c0001t0001g0018 a0001c0001t0002g0137 a0001c0001t0005g0128 others(3): Show a0001c0001t0001g0018 a0001c0001t0002g0137 a0001c0001t0005g0128 a0001c0001t0007g0029 a0001c0001t0023g0003 a0001c0001t0050g0107	6	146	0.0411	20	c.62- others(39): Show c.62-183094_62-183093insGGGGTGTGTGTGTGTGGGTG		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85568444	T T	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTCTTTCA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG04204.hp1 NA18952.hp1 HG00621.hp2 HG04204.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0010 a0001c0001t0043 a0001c0001t0009 a0001c0001t0010 a0001c0001t0043	a0001c0001t0009g0008 a0001c0001t0010g0067 a0001c0001t0043g0060 a0001c0001t0009g0008 a0001c0001t0010g0067 a0001c0001t0043g0060	3	146	0.0206	20	c.62- others(39): Show c.62-158059_62-158058insATTCTTTCTTTCTTTCTTTC		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85568461	T T	TTCTTTCT others(13): Show TTCTTTCTTTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0094 a0001c0001t0009g0094	1	146	0.0069	20	c.62- others(39): Show c.62-158058_62-158057insTTCTTTCTTCTCTTCTCTCT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85568469	C C	CTCTTTCT others(13): Show CTCTTTCTCTCTCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0140 a0001c0002t0011g0140	1	146	0.0069	20	c.62- others(39): Show c.62-158050_62-158049insTTCTCTCTCTCTTTCTTTCT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85568473	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01074.hp1 HG01261.hp1 others(5): Show HG00423.hp1 HG01074.hp1 HG01261.hp1 HG02615.hp2 HG04115.hp1 NA18982.hp1 NA18984.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021	a0001c0001t0001g0031 a0001c0001t0001g0088 a0001c0001t0003g0055 others(5): Show a0001c0001t0001g0031 a0001c0001t0001g0088 a0001c0001t0003g0055 a0001c0001t0003g0114 a0001c0001t0012g0086 a0001c0001t0017g0089 a0001c0001t0018g0035 a0001c0001t0021g0127	8	146	0.0548	20	c.62- others(39): Show c.62-158026_62-158007dupTTTCTTTCTTTCTTTCTTTC		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85577981	C C	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0132 a0001c0001t0025g0132	1	146	0.0069	20	c.62- others(39): Show c.62-148539_62-148538insCTTCCTTCCTTCCTTCCTTC		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85577984	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02129.hp1 HG02451.hp1 others(7): Show HG00423.hp1 HG02129.hp1 HG02451.hp1 HG02630.hp1 HG02895.hp2 HG03209.hp1 HG03540.hp2 HG03579.hp1 HG04199.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0018 a0001c0001t0023 a0001c0001t0040 a0001c0001t0050	a0001c0001t0001g0103 a0001c0001t0002g0023 a0001c0001t0002g0100 others(7): Show a0001c0001t0001g0103 a0001c0001t0002g0023 a0001c0001t0002g0100 a0001c0001t0004g0053 a0001c0001t0007g0029 a0001c0001t0009g0037 a0001c0001t0018g0035 a0001c0001t0023g0003 a0001c0001t0040g0024 a0001c0001t0050g0107	10	146	0.0685	20	c.62- others(39): Show c.62-148511_62-148492dupCCTTCCTTCCTTCCTTCCTT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85628580	C C	CACATATA others(13): Show CACATATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00423.hp1 others(108): Show HG00140.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00621.hp2 HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02129.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18977.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0002t0007 a0001c0002t0011 a0001c0002t0016 a0001c0002t0046 a0001c0003t0006 a0001c0003t0024 a0001c0003t0026 a0001c0003t0042 a0001c0004t0033 a0002c0005t0004	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0031 others(108): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0002g0001 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0078 a0001c0001t0002g0102 a0001c0001t0002g0119 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0050 a0001c0001t0003g0055 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0104 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0121 a0001c0001t0004g0053 a0001c0001t0004g0064 a0001c0001t0004g0075 a0001c0001t0004g0105 a0001c0001t0004g0117 a0001c0001t0005g0061 a0001c0001t0005g0071 a0001c0001t0005g0083 a0001c0001t0005g0120 a0001c0001t0005g0123 a0001c0001t0005g0128 a0001c0001t0007g0029 a0001c0001t0007g0082 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0009g0008 a0001c0001t0009g0037 a0001c0001t0009g0066 a0001c0001t0009g0094 a0001c0001t0010g0020 a0001c0001t0010g0067 a0001c0001t0010g0146 a0001c0001t0012g0057 a0001c0001t0012g0086 a0001c0001t0012g0129 a0001c0001t0014g0021 a0001c0001t0014g0026 a0001c0001t0014g0118 a0001c0001t0017g0089 a0001c0001t0017g0135 a0001c0001t0018g0035 a0001c0001t0018g0039 a0001c0001t0019g0130 a0001c0001t0019g0131 a0001c0001t0020g0097 a0001c0001t0021g0126 a0001c0001t0021g0127 a0001c0001t0023g0003 a0001c0001t0023g0006 a0001c0001t0025g0132 a0001c0001t0027g0022 a0001c0001t0029g0145 a0001c0001t0030g0116 a0001c0001t0031g0124 a0001c0001t0032g0112 a0001c0001t0035g0036 a0001c0001t0037g0054 a0001c0001t0038g0142 a0001c0001t0039g0072 a0001c0001t0040g0024 a0001c0001t0041g0056 a0001c0001t0043g0060 a0001c0001t0044g0041 a0001c0001t0047g0038 a0001c0001t0049g0033 a0001c0001t0050g0107 a0001c0002t0007g0095 a0001c0002t0011g0012 a0001c0002t0016g0051 a0001c0002t0016g0098 a0001c0002t0046g0139 a0001c0003t0006g0025 a0001c0003t0006g0027 a0001c0003t0006g0030 a0001c0003t0006g0034 a0001c0003t0024g0004 a0001c0003t0024g0007 a0001c0003t0026g0015 a0001c0003t0042g0109 a0001c0004t0033g0110 a0002c0005t0004g0058	111	146	0.7603	20	c.62- others(37): Show c.62-97923_62-97922insTACATATATATACATATATA		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85730440	T T	TAAATAAA others(13): Show TAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0054 a0001c0001t0037g0054	1	146	0.0069	20	c.88+ others(35): Show c.88+3913_88+3932dupAAATAAAATAAAATAAAATA		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85803500	A A	AATAGATA others(13): Show AATAGATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	146	0.0069	20	c.238 others(37): Show c.238+1319_238+1338dupAGATAGATAGATAGATAGAT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85898937	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0067 a0001c0001t0010g0067	1	146	0.0069	20	c.529 others(39): Show c.529+12629_529+12630insATATATATATATATATATAT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85898937	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02976.hp2 NA20129.hp2 HG02451.hp2 HG02976.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0012 a0001c0002t0011g0140 a0001c0002t0011g0143 a0001c0002t0011g0012 a0001c0002t0011g0140 a0001c0002t0011g0143	3	146	0.0206	20	c.529 others(39): Show c.529+12611_529+12612insGTATATATATATATATATAT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85898937	G G	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG01884.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0048 a0001c0001t0002g0049	2	146	0.0137	20	c.529 others(39): Show c.529+12611_529+12612insGTGTATATATATATATATAT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85898937	G G	GTGTGTGT others(13): Show GTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0142 a0001c0001t0038g0142	1	146	0.0069	20	c.529 others(39): Show c.529+12611_529+12612insGTGTGTATATATATATATAT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	86066332	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0133 a0001c0001t0015g0133	1	146	0.0069	20	c.109 others(37): Show c.1097-326_1097-307dupAAAAAAAAAAAAAAAAAAAA		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122351372	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02280.hp1 HG02895.hp2 others(3): Show HG01069.hp1 HG02280.hp1 HG02895.hp2 HG03017.hp1 HG03486.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0066 a0001c0001t0001g0101 a0001c0001t0002g0021 others(3): Show a0001c0001t0001g0066 a0001c0001t0001g0101 a0001c0001t0002g0021 a0001c0001t0003g0117 a0001c0002t0001g0026 a0001c0002t0002g0057	6	126	0.0476	20	c.350 others(39): Show c.3505-5711_3505-5692dupTTTTTTTTTTTTTTTTTTTT		CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	27/29						chr7	TogoVar
CADPS2_chr7_122313411_122891460	122447543	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0104 a0001c0003t0001g0104	1	126	0.0079	20	c.228 others(39): Show c.2288+3811_2288+3830dupAAAAAAAAAAAAAAAAAAAA		CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	15/29						chr7	TogoVar
CADPS2_chr7_122313411_122891460	122527617	A A	AGAGAGAG others(13): Show AGAGAGAGAGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	126	0.0079	20	c.147 others(41): Show c.1476-14303_1476-14302insACACTCTCTCTCTCTCTCTC		CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	8/29						chr7	TogoVar
CADPS2_chr7_122313411_122891460	122527617	A A	AGAGAGAG others(13): Show AGAGAGAGAGAGAGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	126	0.0079	20	c.147 others(41): Show c.1476-14303_1476-14302insACACACACTCTCTCTCTCTC		CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	8/29						chr7	TogoVar
CADPS2_chr7_122313411_122891460	122541867	G G	GCATATAT others(13): Show GCATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03130.hp1 HG03486.hp2 others(1): Show HG02970.hp1 HG03130.hp1 HG03486.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0066 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0066 a0001c0001t0001g0068	4	126	0.0318	20	c.147 others(41): Show c.1475+12663_1475+12682dupAATATATATAAATATATATG		CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	8/29						chr7	TogoVar
CADPS2_chr7_122313411_122891460	122579450	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0072 a0001c0005t0004g0072	1	126	0.0079	20	c.133 others(39): Show c.1335+1709_1335+1728dupATATATATATATATATATAT		CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	7/29						chr7	TogoVar
CADPS_chr3_62393348_62880416	62510191	C C	CATCCATC others(13): Show CATCCATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	160	0.0063	20	c.259 others(39): Show c.2599+2559_2599+2560insAGATAGATAGATAGATGGAT		CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	17/29						chr3	TogoVar
CADPS_chr3_62393348_62880416	62510191	C C	CATCTATC others(13): Show CATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp2 HG01515.hp2 others(4): Show HG00735.hp2 HG01192.hp2 HG01515.hp2 HG02559.hp1 HG02976.hp2 HG03139.hp2 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0014 others(1): Show a0001c0001 a0001c0004 a0001c0014 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0014t0001 a0002c0008t0001	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0102 others(4): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0102 a0001c0001t0002g0151 a0001c0004t0001g0085 a0001c0014t0001g0150 a0002c0008t0001g0100	7	160	0.0438	20	c.259 others(39): Show c.2599+2540_2599+2559dupAGATAGATAGATAGATAGAT		CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	17/29						chr3	TogoVar
CADPS_chr3_62393348_62880416	62525679	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	160	0.0063	20	c.229 others(39): Show c.2291+7172_2291+7191dupCACACACACACACACACACA		CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	13/29						chr3	TogoVar
CADPS_chr3_62393348_62880416	62731805	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02300.hp2 others(2): Show HG01070.hp1 HG01071.hp1 HG02300.hp2 HG02895.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0090 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0098	5	160	0.0313	20	c.888 others(39): Show c.888+21616_888+21635dupTTTTTTTTTTTTTTTTTTTT		CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	3/29						chr3	TogoVar
CADPS_chr3_62393348_62880416	62843492	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01884.hp1 HG02647.hp1 others(2): Show HG01192.hp2 HG01884.hp1 HG02647.hp1 HG02647.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0022 a0001c0001t0001g0082 a0001c0001t0001g0087 others(2): Show a0001c0001t0001g0022 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0002g0159 a0001c0002t0001g0065	5	160	0.0313	20	c.441 others(39): Show c.441+31077_441+31096dupACACACACACACACACACAC		CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	1/29						chr3	TogoVar
CAGE1_chr6_7321659_7394742	7343198	A A	AAAAAGAA others(13): Show AAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	360	0.0028	20	c.237 others(39): Show c.2370-9128_2370-9109dupCTTTTCTTTTCTTTTCTTTT		CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	11/13						chr6	TogoVar
CAGE1_chr6_7321659_7394742	7351530	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03486.hp1 HG03516.hp2 others(2): Show HG01884.hp1 HG03486.hp1 HG03516.hp2 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 others(2): Show a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0167	5	360	0.0139	20	c.236 others(39): Show c.2369+3491_2369+3510dupATTTTATTTTATTTTATTTT		CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	11/13						chr6	TogoVar
CAGE1_chr6_7321659_7394742	7358025	G G	GAAATATA others(13): Show GAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	360	0.0028	20	c.219 others(39): Show c.2194-1897_2194-1896insATATATATATATATATATTT		CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	9/13						chr6	TogoVar
CAGE1_chr6_7321659_7394742	7358027	G G	GAGATATA others(13): Show GAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	360	0.0028	20	c.219 others(39): Show c.2194-1899_2194-1898insATATATATATATATATATCT		CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	9/13						chr6	TogoVar
CAGE1_chr6_7321659_7394742	7358027	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01099.hp2 HG02071.hp2 others(3): Show HG00423.hp1 HG01099.hp2 HG02071.hp2 HG03942.hp2 HG04199.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0002g0259 others(3): Show a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0002g0259 a0001c0001t0002g0275 a0001c0001t0002g0347 a0001c0001t0002g0358	6	360	0.0167	20	c.219 others(39): Show c.2194-1918_2194-1899dupATATATATATATATATATAT		CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	9/13						chr6	TogoVar
CAGE1_chr6_7321659_7394742	7358065	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	360	0.0028	20	c.219 others(39): Show c.2194-1937_2194-1936insGTATATATATATATATATAT		CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	9/13						chr6	TogoVar
CAGE1_chr6_7321659_7394742	7367278	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0238 a0004c0005t0003g0238	1	360	0.0028	20	c.200 others(39): Show c.2005-1395_2005-1394insAAAAAAAAAAAAAAAAAAAA		CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	7/13						chr6	TogoVar
CALB2_chr16_71353723_71395433	71356943	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 NA18979.hp2 NA19009.hp1 HG02738.hp2 NA18979.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0291 a0001c0001t0002g0004 a0001c0001t0002g0296 a0001c0001t0001g0291 a0001c0001t0002g0004 a0001c0001t0002g0296	3	426	0.0070	20	c.-18 others(31): Show c.-1850_-1849insTTTTTTTTTTTTTTTTTTTT		CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding					1779		chr16	TogoVar
CALB2_chr16_71353723_71395433	71366022	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00673.hp2 others(14): Show HG00544.hp1 HG00558.hp2 HG00673.hp2 HG01074.hp1 HG01074.hp2 HG01256.hp2 HG02040.hp2 NA18941.hp1 NA18947.hp2 NA18954.hp1 NA18983.hp1 NA18990.hp1 NA18998.hp1 NA18999.hp1 NA19054.hp1 NA19055.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0036 others(12): Show a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0036 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0364	17	426	0.0399	20	c.95- others(35): Show c.95-6130_95-6129insTTTTTTTTTTTTTTTTTTTT		CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
CALB2_chr16_71353723_71395433	71382155	A A	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02257.hp1 others(8): Show HG01891.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02717.hp2 HG02896.hp1 HG02970.hp2 HG03540.hp2 HG06807.hp2 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0053 a0001c0001t0003g0267 others(7): Show a0001c0001t0003g0030 a0001c0001t0003g0053 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0347 a0001c0001t0003g0348	11	426	0.0258	20	c.343 others(35): Show c.343-561_343-560insGGAAGGAAGGAAGGAAGGAA		CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
CALCOCO2_chr17_48826035_48870245	48852743	G G	GAAAGGGC others(13): Show GAAAGGGCTCAGAGGAAGCTA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0008 a0005c0007t0008	a0005c0007t0008g0013 a0005c0007t0008g0013	1	328	0.0031	20	c.825 others(35): Show c.825+116_825+135dupAAAGGGCTCAGAGGAAGCTA		CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48852915	T T	TTTTTGTG others(13): Show TTTTTGTGCAGAGGAAGGACC	frameshift_variant frameshift_variant	HIGH	NA18968.hp1 NA18968.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0043 a0003c0003t0001g0043	1	328	0.0031	20	c.826 others(30): Show c.826-10_835dupTTTTGTGCAGAGGAAGGACC	p.Gln others(5): Show p.Gln279fs	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/13	890/3635	836/1341	279/446		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854382	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0076 a0004c0004t0003g0076	1	328	0.0031	20	c.912 others(37): Show c.912+1385_912+1386insATATATATATATATATATAT		CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG01993.hp1 others(1): Show HG00735.hp2 HG01106.hp1 HG01993.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0258 a0001c0001t0002g0262 others(1): Show a0001c0001t0002g0158 a0001c0001t0002g0258 a0001c0001t0002g0262 a0001c0001t0002g0263	4	328	0.0122	20	c.912 others(37): Show c.912+1385_912+1386insATATATATATATATATATTT		CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp1 HG01358.hp1 others(7): Show HG00099.hp2 HG01070.hp1 HG01358.hp1 HG02630.hp1 HG02647.hp1 HG02897.hp2 HG02976.hp1 HG03225.hp1 NA19011.hp1 NA19068.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0002 a0001c0001t0006 a0003c0003t0001 others(3): Show a0001c0001t0002 a0001c0001t0006 a0003c0003t0001 a0004c0004t0005 a0004c0004t0011 a0004c0004t0012	a0001c0001t0002g0170 a0001c0001t0002g0278 a0001c0001t0006g0272 others(7): Show a0001c0001t0002g0170 a0001c0001t0002g0278 a0001c0001t0006g0272 a0003c0003t0001g0024 a0003c0003t0001g0035 a0004c0004t0005g0104 a0004c0004t0005g0105 a0004c0004t0005g0110 a0004c0004t0011g0103 a0004c0004t0012g0098	10	328	0.0305	20	c.912 others(37): Show c.912+1385_912+1386insATATATATATATATATTTTT		CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01175.hp1 others(10): Show HG00642.hp1 HG00735.hp1 HG01175.hp1 HG02040.hp2 HG02559.hp2 HG02698.hp2 HG02809.hp1 HG03098.hp2 HG03710.hp2 NA18952.hp2 NA18968.hp1 NA19058.hp1 NA20300.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0002 a0003c0003t0001 a0004c0004t0005 a0001c0001t0002 a0003c0003t0001 a0004c0004t0005	a0001c0001t0002g0006 a0001c0001t0002g0257 a0001c0001t0002g0274 others(10): Show a0001c0001t0002g0006 a0001c0001t0002g0257 a0001c0001t0002g0274 a0001c0001t0002g0286 a0001c0001t0002g0299 a0003c0003t0001g0021 a0003c0003t0001g0025 a0003c0003t0001g0034 a0003c0003t0001g0043 a0003c0003t0001g0048 a0003c0003t0001g0063 a0004c0004t0005g0108 a0004c0004t0005g0115	13	328	0.0396	20	c.912 others(37): Show c.912+1385_912+1386insATATATATATATATTTTTTT		CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01081.hp2 HG02080.hp2 others(5): Show HG00438.hp1 HG01081.hp2 HG02080.hp2 HG02148.hp1 HG02300.hp2 HG02523.hp2 NA18980.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0001 a0003c0003t0025 a0001c0001t0002 a0003c0003t0001 a0003c0003t0025	a0001c0001t0002g0005 a0001c0001t0002g0288 a0003c0003t0001g0018 others(5): Show a0001c0001t0002g0005 a0001c0001t0002g0288 a0003c0003t0001g0018 a0003c0003t0001g0028 a0003c0003t0001g0041 a0003c0003t0001g0054 a0003c0003t0001g0056 a0003c0003t0025g0052	8	328	0.0244	20	c.912 others(37): Show c.912+1385_912+1386insATATATATATATTTTTTTTT		CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48857497	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18942.hp1 NA18954.hp1 others(1): Show HG00558.hp2 NA18942.hp1 NA18954.hp1 NA18989.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0023 a0001c0001t0002 a0002c0002t0001 a0002c0002t0023	a0001c0001t0002g0171 a0002c0002t0001g0152 a0002c0002t0001g0176 others(1): Show a0001c0001t0002g0171 a0002c0002t0001g0152 a0002c0002t0001g0176 a0002c0002t0023g0135	4	328	0.0122	20	c.100 others(39): Show c.1008+1314_1008+1333dupTTTTTTTTTTTTTTTTTTTT		CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48857974	C C	CAATAGAA others(13): Show CAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG03139.hp1 NA19058.hp2 HG02148.hp2 HG03139.hp1 NA19058.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0002c0002t0001 a0003c0003t0007 a0001c0001t0002 a0002c0002t0001 a0003c0003t0007	a0001c0001t0002g0302 a0002c0002t0001g0222 a0003c0003t0007g0142 a0001c0001t0002g0302 a0002c0002t0001g0222 a0003c0003t0007g0142	3	328	0.0092	20	c.100 others(39): Show c.1008+1840_1008+1859dupTAGAATAGAATAGAATAGAA		CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	AAATAGAA others(13): Show AAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00558.hp2 others(51): Show HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG01070.hp2 HG01071.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01496.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02300.hp1 HG02523.hp1 HG02886.hp2 HG03239.hp1 HG03492.hp2 HG03654.hp2 HG03710.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18951.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA19011.hp2 NA19060.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0002c0002t0001 others(6): Show a0001c0001t0002 a0001c0001t0006 a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0002c0002t0017 a0002c0002t0018 a0002c0002t0024 a0002c0002t0026	a0001c0001t0002g0252 a0001c0001t0002g0269 a0001c0001t0002g0315 others(51): Show a0001c0001t0002g0252 a0001c0001t0002g0269 a0001c0001t0002g0315 a0001c0001t0006g0242 a0002c0002t0001g0133 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0147 a0002c0002t0001g0152 a0002c0002t0001g0169 a0002c0002t0001g0172 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0184 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0199 a0002c0002t0001g0201 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0214 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0221 a0002c0002t0001g0223 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0230 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0319 a0002c0002t0004g0224 a0002c0002t0007g0185 a0002c0002t0017g0308 a0002c0002t0018g0200 a0002c0002t0024g0150 a0002c0002t0026g0183	54	328	0.1646	20	c.100 others(39): Show c.1008+1868_1008+1887dupAGAATAGAATAGAATAGAAT		CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr17	TogoVar

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