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
CACNG2_chr22_36555857_36708752	36703799	C C	CTCTCTCT others(14): Show CTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	214	0.0047	21	c.-12 others(32): Show c.-1224_-1223insAGAGAGAGAGAGAGAGAGAGA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		48		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36706202	T T	TTCTCCCT others(14): Show TTCTCCCTCTTCTTTTTCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0098 a0001c0001t0011g0098	1	214	0.0047	21	c.-36 others(32): Show c.-3627_-3626insGGAAGAAAAAGAAGAGGGAGA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		2451		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36706226	C C	CTCTTCTT others(14): Show CTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG01168.hp1 others(15): Show HG00280.hp1 HG00735.hp1 HG01168.hp1 HG01496.hp1 HG02615.hp1 HG02698.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp1 NA18946.hp1 NA18946.hp2 NA18979.hp2 NA19002.hp1 NA19064.hp2 NA19091.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0031 a0001c0001t0040 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0056 a0001c0001t0091 a0001c0001t0108	a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0044 others(15): Show a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0071 a0001c0001t0001g0090 a0001c0001t0002g0035 a0001c0001t0002g0074 a0001c0001t0002g0079 a0001c0001t0014g0070 a0001c0001t0031g0012 a0001c0001t0040g0067 a0001c0001t0045g0027 a0001c0001t0048g0013 a0001c0001t0049g0094 a0001c0001t0056g0105 a0001c0001t0091g0188 a0001c0001t0108g0209	18	214	0.0841	21	c.-36 others(32): Show c.-3651_-3650insAGAAGAAGAAGAAGAAGAAGA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		2475		chr22	TogoVar
CACNG3_chr16_24251335_24367412	24252666	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	366	0.0027	21	c.-40 others(32): Show c.-4089_-4088insTTTTTTTTTTTTTTTTTTTTT	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding		3668		chr16	TogoVar
CACNG3_chr16_24251335_24367412	24314733	G G	GCCTCCTC others(14): Show GCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18942.hp2 NA18951.hp2 others(1): Show HG00738.hp2 NA18942.hp2 NA18951.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0204 others(1): Show a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0204 a0001c0001t0001g0254	4	366	0.0109	21	c.212 others(40): Show c.212-31983_212-31963dupTCCTCCTCCTCCTCCTCCTCC	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24317643	A A	AAAGAAAG others(14): Show AAAGAAAGAAAGAAAGGAAAAG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	366	0.0027	21	c.212 others(40): Show c.212-29089_212-29088insGAAAGAAAGAAAGGAAAAGAA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24317643	A A	AAAGAAAG others(14): Show AAAGAAAGGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	366	0.0027	21	c.212 others(40): Show c.212-29089_212-29088insGAAAGGAAAAGAAAGAAAGAA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG6_chr19_53986637_54017666	54006517	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0152 a0001c0003t0002g0152	1	430	0.0023	21	c.545 others(38): Show c.545-5430_545-5429insTTTTTTTTTTTTTTTTTTTTT	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54017628	C C	CTCTCTCT others(14): Show CTCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	430	0.0023	21	c.54 others(32): Show c.5439_*5440insTCTCTCTCTCTCTCTCTCTCT	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		4963		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906069	C C	CCTTCTTC others(14): Show CCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	364	0.0028	21	c.-34 others(32): Show c.-3478_-3477insCTTCTTCTTCTTCTTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3208		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906081	C C	CCTTCTTC others(14): Show CCTTCTTCTTCTTCCTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0351 a0001c0001t0006g0351	1	364	0.0028	21	c.-34 others(32): Show c.-3466_-3465insCTTCTTCTTCTTCCTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3196		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTCC others(14): Show CCTCCTCCTCCTCCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0274 a0001c0001t0018g0274	1	364	0.0028	21	c.-34 others(32): Show c.-3463_-3462insCTCCTCCTCCTCCTTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTCC others(14): Show CCTCCTCCTCCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02723.hp1 HG04115.hp1 HG02109.hp1 HG02723.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0264 a0001c0001t0002g0312 a0001c0001t0019g0281 a0001c0001t0002g0264 a0001c0001t0002g0312 a0001c0001t0019g0281	3	364	0.0082	21	c.-34 others(32): Show c.-3463_-3462insCTCCTCCTCCTTCTTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTTC others(14): Show CCTCCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	364	0.0028	21	c.-34 others(32): Show c.-3463_-3462insCTCCTTCTTCTTCTTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTTCTTC others(14): Show CCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	364	0.0028	21	c.-34 others(32): Show c.-3463_-3462insCTTCTTCTTCTTCTTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CADM1_chr11_115164236_115509415	115206758	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA19088.hp1 HG01952.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0017 a0001c0001t0010 a0001c0001t0017	a0001c0001t0010g0146 a0001c0001t0017g0121 a0001c0001t0010g0146 a0001c0001t0017g0121	2	164	0.0122	21	c.107 others(40): Show c.1078+2795_1078+2815dupAAAAAAAAAAAAAAAAAAAAA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	8/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115340658	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0164 a0001c0001t0011g0164	1	164	0.0061	21	c.125 others(42): Show c.125-100239_125-100238insAAAAAAAAAAATATATATATA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115404346	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0023 a0001c0001t0038g0023	1	164	0.0061	21	c.124 others(40): Show c.124+99924_124+99925insATATATATATATTTTTTTTTT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM2_chr3_84953989_86079429	85034790	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0046 a0001c0002t0034g0046	1	146	0.0069	21	c.61+ others(38): Show c.61+75126_61+75146dupTTTTTTTTTTTTTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85144620	A A	AAAAAGAA others(14): Show AAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03209.hp1 HG02559.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0040 a0001c0001t0014 a0001c0001t0040	a0001c0001t0014g0118 a0001c0001t0040g0024 a0001c0001t0014g0118 a0001c0001t0040g0024	2	146	0.0137	21	c.61+ others(40): Show c.61+184955_61+184956insAGAAAGAAAGAAAGAAAGAAA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85266565	T T	TTCATCCA others(14): Show TTCATCCATATCAGTTGAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00423.hp1 others(59): Show HG00140.hp1 HG00280.hp2 HG00423.hp1 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01361.hp2 HG01515.hp2 HG01884.hp1 HG01981.hp2 HG02015.hp1 HG02129.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03195.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18906.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18977.hp1 NA18984.hp2 NA18989.hp1 NA18995.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0049 a0001c0001t0050 a0001c0002t0007 a0001c0002t0011 a0001c0002t0048 a0001c0003t0006 a0001c0003t0026 a0001c0003t0042 a0001c0004t0033 a0002c0005t0004	a0001c0001t0001g0018 a0001c0001t0001g0047 a0001c0001t0001g0115 others(59): Show a0001c0001t0001g0018 a0001c0001t0001g0047 a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0119 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0050 a0001c0001t0003g0093 a0001c0001t0004g0053 a0001c0001t0004g0075 a0001c0001t0004g0105 a0001c0001t0004g0117 a0001c0001t0005g0120 a0001c0001t0005g0123 a0001c0001t0005g0128 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0009g0094 a0001c0001t0010g0020 a0001c0001t0010g0146 a0001c0001t0012g0057 a0001c0001t0012g0086 a0001c0001t0012g0129 a0001c0001t0014g0021 a0001c0001t0014g0026 a0001c0001t0015g0133 a0001c0001t0018g0035 a0001c0001t0018g0039 a0001c0001t0019g0130 a0001c0001t0019g0131 a0001c0001t0020g0043 a0001c0001t0020g0097 a0001c0001t0021g0126 a0001c0001t0021g0127 a0001c0001t0023g0003 a0001c0001t0025g0132 a0001c0001t0027g0022 a0001c0001t0028g0122 a0001c0001t0030g0116 a0001c0001t0031g0124 a0001c0001t0032g0112 a0001c0001t0041g0056 a0001c0001t0043g0060 a0001c0001t0044g0041 a0001c0001t0049g0033 a0001c0001t0050g0107 a0001c0002t0007g0095 a0001c0002t0011g0012 a0001c0002t0048g0096 a0001c0003t0006g0025 a0001c0003t0006g0027 a0001c0003t0006g0030 a0001c0003t0006g0034 a0001c0003t0026g0015 a0001c0003t0042g0109 a0001c0004t0033g0110 a0002c0005t0004g0058	62	146	0.4247	21	c.61+ others(40): Show c.61+306897_61+306898insTCATCCATATCAGTTGAAAAG	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9			chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	146	0.0069	21	c.62- others(40): Show c.62-366855_62-366854insATATATATATATATATATATT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA20300.hp1 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0052 a0001c0001t0037 a0001c0001t0052	a0001c0001t0037g0054 a0001c0001t0052g0002 a0001c0001t0037g0054 a0001c0001t0052g0002	2	146	0.0137	21	c.62- others(40): Show c.62-366855_62-366854insATATATATATATATATATTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	146	0.0069	21	c.62- others(40): Show c.62-366855_62-366854insATATATATATATATATTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	146	0.0069	21	c.62- others(40): Show c.62-366855_62-366854insATATATATATATATTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85449052	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02257.hp1 others(7): Show HG01243.hp1 HG01884.hp2 HG02257.hp1 HG02486.hp2 HG02809.hp2 HG02818.hp2 HG03195.hp2 HG03239.hp2 HG06807.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0002t0034 a0001c0002t0046 a0001c0003t0006	a0001c0001t0001g0018 a0001c0001t0001g0070 a0001c0001t0002g0138 others(7): Show a0001c0001t0001g0018 a0001c0001t0001g0070 a0001c0001t0002g0138 a0001c0001t0005g0128 a0001c0001t0015g0076 a0001c0001t0015g0077 a0001c0001t0015g0133 a0001c0002t0034g0046 a0001c0002t0046g0139 a0001c0003t0006g0028	10	146	0.0685	21	c.62- others(40): Show c.62-277466_62-277446dupAATAATAATAATAATAATAAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85487592	A A	AAGGAGGA others(14): Show AAGGAGGAAGTGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18989.hp1 NA18949.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0120 a0001c0001t0005g0123 a0001c0001t0005g0120 a0001c0001t0005g0123	2	146	0.0137	21	c.62- others(40): Show c.62-238907_62-238887dupGGAGGAAGTGGAGGAGGAGGA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85637616	A A	ATAAAATA others(14): Show ATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG01074.hp1 others(10): Show HG00140.hp1 HG00280.hp2 HG01074.hp1 HG01099.hp1 HG01175.hp2 HG01261.hp2 HG01884.hp1 HG02258.hp1 HG02280.hp1 HG03239.hp1 HG03927.hp1 HG04228.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0021 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0004t0033	a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0002g0048 others(10): Show a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0078 a0001c0001t0002g0102 a0001c0001t0012g0129 a0001c0001t0021g0126 a0001c0001t0021g0127 a0001c0001t0030g0116 a0001c0001t0031g0124 a0001c0001t0035g0036 a0001c0004t0033g0110	13	146	0.0890	21	c.62- others(38): Show c.62-88906_62-88905insTAAAATAAAATAAAATAAAAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9			chr3	TogoVar
CADM2_chr3_84953989_86079429	85855617	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01261.hp2 HG00280.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0125 a0001c0001t0031g0124 a0001c0001t0001g0125 a0001c0001t0031g0124	2	146	0.0137	21	c.239 others(40): Show c.239-27674_239-27673insTATATATATATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	3/9			chr3	TogoVar
CADM2_chr3_84953989_86079429	85898955	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	146	0.0069	21	c.529 others(40): Show c.529+12629_529+12630insATATATATATATATATTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85898955	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03209.hp1 HG03195.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0040 a0001c0002t0034 a0001c0001t0040 a0001c0002t0034	a0001c0001t0040g0024 a0001c0002t0034g0046 a0001c0001t0040g0024 a0001c0002t0034g0046	2	146	0.0137	21	c.529 others(40): Show c.529+12629_529+12630insATATATATATATTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85898956	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG01099.hp2 others(1): Show HG00280.hp2 HG00423.hp2 HG01099.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0016 a0001c0001t0001g0065 a0001c0001t0001g0084 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0065 a0001c0001t0001g0084 a0001c0001t0031g0124	4	146	0.0274	21	c.529 others(40): Show c.529+12629_529+12630insATATATATATATATATATATA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9			chr3	TogoVar
CADPS2_chr7_122313411_122891460	122315294	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0056 a0001c0004t0002g0056	1	126	0.0079	21	c.48 others(32): Show c.4870_*4871insGAGAGAGAGAGAGAGAGAGAG	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding		3116		chr7	TogoVar
CADPS2_chr7_122313411_122891460	122315296	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0112 a0001c0003t0002g0112	1	126	0.0079	21	c.48 others(32): Show c.4868_*4869insGAGAGAGAGAGAGAGAGAGAG	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding		3114		chr7	TogoVar
CADPS2_chr7_122313411_122891460	122315298	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0055 a0002c0006t0002g0055	1	126	0.0079	21	c.48 others(32): Show c.4866_*4867insGAGAGAGAGAGAGAGAGAGAG	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding		3112		chr7	TogoVar
CADPS2_chr7_122313411_122891460	122351372	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02630.hp2 HG03834.hp2 others(1): Show HG00280.hp2 HG02630.hp2 HG03834.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001	a0001c0001t0001g0003 a0001c0002t0001g0038 a0001c0002t0003g0116 others(1): Show a0001c0001t0001g0003 a0001c0002t0001g0038 a0001c0002t0003g0116 a0001c0003t0001g0034	4	126	0.0318	21	c.350 others(40): Show c.3505-5712_3505-5692dupTTTTTTTTTTTTTTTTTTTTT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	27/29			chr7	TogoVar
CADPS_chr3_62393348_62880416	62731805	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03130.hp1 HG03579.hp1 others(1): Show HG03041.hp2 HG03130.hp1 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0088 others(1): Show a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0088 a0001c0001t0002g0153	4	160	0.0250	21	c.888 others(40): Show c.888+21615_888+21635dupTTTTTTTTTTTTTTTTTTTTT	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	3/29			chr3	TogoVar
CAGE1_chr6_7321659_7394742	7367278	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0237 a0004c0005t0003g0237	1	360	0.0028	21	c.200 others(40): Show c.2005-1395_2005-1394insAAAAAAAAAAAAAAAAAAAAA	CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	7/13			chr6	TogoVar
CALB2_chr16_71353723_71395433	71356943	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19077.hp1 NA19056.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0055 a0001c0001t0002g0001 a0001c0001t0002g0055	2	426	0.0047	21	c.-18 others(32): Show c.-1850_-1849insTTTTTTTTTTTTTTTTTTTTT	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding		1779		chr16	TogoVar
CALB2_chr16_71353723_71395433	71366022	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00639.hp2 others(57): Show HG00323.hp1 HG00323.hp2 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01943.hp2 HG01981.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02895.hp2 HG03942.hp1 HG03942.hp2 NA18612.hp1 NA18939.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18968.hp2 NA18974.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA19010.hp1 NA19057.hp2 NA19068.hp2 NA19077.hp2 NA19081.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(48): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0052 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0241 a0001c0001t0001g0363 a0001c0001t0001g0372 a0001c0003t0001g0015 a0001c0003t0001g0092	60	426	0.1409	21	c.95- others(36): Show c.95-6130_95-6129insTTTTTTTTTTTTTTTTTTTTT	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALB2_chr16_71353723_71395433	71366024	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02165.hp2 HG02559.hp2 others(3): Show HG01884.hp2 HG02165.hp2 HG02559.hp2 HG02965.hp2 HG03453.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0062 a0001c0001t0001g0120 a0001c0001t0001g0152 others(3): Show a0001c0001t0001g0062 a0001c0001t0001g0120 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0002c0002t0004g0266	6	426	0.0141	21	c.95- others(36): Show c.95-6109_95-6108insTTTTTTTTTTTTTTTTTTTTT	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0077 a0004c0004t0003g0077	1	328	0.0031	21	c.912 others(38): Show c.912+1385_912+1386insATATATATATATATATATATT	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(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00741.hp1 HG01346.hp1 others(4): Show HG00558.hp1 HG00741.hp1 HG01346.hp1 HG02559.hp1 HG02965.hp1 HG03654.hp1 NA18940.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0003 a0004c0004t0010 others(1): Show a0001c0001t0002 a0004c0004t0003 a0004c0004t0010 a0004c0004t0030	a0001c0001t0002g0153 a0001c0001t0002g0161 a0004c0004t0003g0073 others(4): Show a0001c0001t0002g0153 a0001c0001t0002g0161 a0004c0004t0003g0073 a0004c0004t0003g0078 a0004c0004t0003g0095 a0004c0004t0010g0086 a0004c0004t0030g0081	7	328	0.0213	21	c.912 others(38): Show c.912+1385_912+1386insATATATATATATATATATTTT	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(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01517.hp1 HG01978.hp2 others(9): Show HG01069.hp1 HG01517.hp1 HG01978.hp2 HG02004.hp1 HG02056.hp2 HG02074.hp2 HG02622.hp1 HG03540.hp1 HG03579.hp2 NA18975.hp1 NA18999.hp1 NA19043.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0002 a0001c0001t0006 a0003c0003t0001 others(5): Show a0001c0001t0002 a0001c0001t0006 a0003c0003t0001 a0003c0003t0004 a0003c0003t0008 a0004c0004t0003 a0004c0004t0005 a0004c0004t0010	a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0301 others(9): Show a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0301 a0001c0001t0006g0264 a0003c0003t0001g0059 a0003c0003t0004g0039 a0003c0003t0008g0014 a0004c0004t0003g0096 a0004c0004t0005g0102 a0004c0004t0005g0106 a0004c0004t0005g0107 a0004c0004t0010g0083	12	328	0.0366	21	c.912 others(38): Show c.912+1385_912+1386insATATATATATATATATTTTTT	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(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01081.hp1 others(14): Show HG00099.hp1 HG00140.hp1 HG01081.hp1 HG01256.hp2 HG01346.hp2 HG01358.hp2 HG01981.hp1 HG02647.hp2 HG02738.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18964.hp2 NA18989.hp1 NA19060.hp1 NA19067.hp1 NA20752.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0007 a0001c0001 a0003c0003 a0005c0007	a0001c0001t0002 a0003c0003t0001 a0003c0003t0007 others(2): Show a0001c0001t0002 a0003c0003t0001 a0003c0003t0007 a0003c0003t0008 a0005c0007t0008	a0001c0001t0002g0004 a0001c0001t0002g0156 a0001c0001t0002g0275 others(14): Show a0001c0001t0002g0004 a0001c0001t0002g0156 a0001c0001t0002g0275 a0001c0001t0002g0300 a0003c0003t0001g0019 a0003c0003t0001g0037 a0003c0003t0001g0038 a0003c0003t0001g0042 a0003c0003t0001g0046 a0003c0003t0001g0049 a0003c0003t0001g0058 a0003c0003t0001g0065 a0003c0003t0007g0022 a0003c0003t0008g0015 a0003c0003t0008g0016 a0003c0003t0008g0017 a0005c0007t0008g0013	17	328	0.0518	21	c.912 others(38): Show c.912+1385_912+1386insATATATATATATATTTTTTTT	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(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18953.hp2 HG02615.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0166 a0001c0001t0020g0328 a0001c0001t0002g0166 a0001c0001t0020g0328	2	328	0.0061	21	c.912 others(38): Show c.912+1385_912+1386insATATATATATATTTTTTTTTT	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(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02129.hp1 HG02132.hp1 others(4): Show HG00438.hp2 HG02129.hp1 HG02132.hp1 HG02257.hp2 NA18951.hp1 NA18971.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0001 a0001c0001t0006 a0002c0002t0001	a0001c0001t0006g0008 a0002c0002t0001g0175 a0002c0002t0001g0201 others(4): Show a0001c0001t0006g0008 a0002c0002t0001g0175 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0213 a0002c0002t0001g0319	7	328	0.0213	21	c.100 others(40): Show c.1008+1313_1008+1333dupTTTTTTTTTTTTTTTTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48858073	A A	ATAGAATA others(14): Show ATAGAATAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0309 a0002c0002t0001g0309	1	328	0.0031	21	c.100 others(40): Show c.1008+1887_1008+1888insAGAATAGAATAGAATAGAATT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48867821	T T	TAAATAAA others(14): Show TAAATAAATAAATAAATAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG03942.hp1 HG02132.hp2 HG03942.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0080 a0004c0004t0003g0087 a0004c0004t0003g0080 a0004c0004t0003g0087	2	328	0.0061	21	c.48 others(32): Show c.4816_*4817insAAATAAATAAATAAATAAATA	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding		2577		chr17	TogoVar
CALCR_chr7_93419486_93579724	93532838	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02615.hp2 HG02896.hp2 others(2): Show HG01243.hp2 HG02615.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0003t0029 a0001c0001t0001 a0001c0003t0002 a0001c0003t0029	a0001c0001t0001g0074 a0001c0003t0002g0221 a0001c0003t0002g0222 others(2): Show a0001c0001t0001g0074 a0001c0003t0002g0221 a0001c0003t0002g0222 a0001c0003t0002g0228 a0001c0003t0029g0220	5	292	0.0171	21	c.-27 others(40): Show c.-27+41430_-27+41450dupTTTTTTTTTTTTTTTTTTTTT	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	2/13			chr7	TogoVar

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