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
CACNB4_chr2_151827771_152104044	151987670	ACTGTAAA others(4): Show ACTGTAAATCGC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0143 a0001c0001t0038g0143	1	230	0.0044	-11	c.148 others(32): Show c.148-104311_148-104301delGCGATTTACAG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	151998315	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(88): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00558.hp1 HG00609.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01943.hp2 HG02015.hp2 HG02055.hp2 HG02083.hp1 HG02145.hp2 HG02148.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03710.hp2 HG04115.hp2 HG04204.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18960.hp1 NA18964.hp2 NA18971.hp1 NA18974.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19055.hp2 NA19057.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0025 a0001c0001t0030 a0001c0001t0031 a0001c0001t0037 a0001c0001t0042 a0001c0002t0002 a0001c0002t0003 a0001c0003t0016 a0001c0003t0026 a0002c0004t0035	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(88): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0090 a0001c0001t0001g0104 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0154 a0001c0001t0001g0165 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0207 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0004g0001 a0001c0001t0004g0031 a0001c0001t0004g0049 a0001c0001t0004g0075 a0001c0001t0004g0189 a0001c0001t0005g0024 a0001c0001t0005g0036 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0005g0144 a0001c0001t0006g0021 a0001c0001t0006g0072 a0001c0001t0006g0077 a0001c0001t0006g0080 a0001c0001t0007g0015 a0001c0001t0007g0197 a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0009g0012 a0001c0001t0009g0013 a0001c0001t0009g0017 a0001c0001t0009g0023 a0001c0001t0009g0056 a0001c0001t0009g0063 a0001c0001t0010g0114 a0001c0001t0010g0122 a0001c0001t0010g0136 a0001c0001t0011g0071 a0001c0001t0012g0062 a0001c0001t0012g0167 a0001c0001t0012g0169 a0001c0001t0012g0193 a0001c0001t0012g0195 a0001c0001t0013g0091 a0001c0001t0013g0148 a0001c0001t0013g0191 a0001c0001t0013g0228 a0001c0001t0014g0028 a0001c0001t0014g0034 a0001c0001t0015g0047 a0001c0001t0018g0046 a0001c0001t0020g0043 a0001c0001t0020g0048 a0001c0001t0022g0041 a0001c0001t0025g0204 a0001c0001t0030g0074 a0001c0001t0031g0083 a0001c0001t0037g0073 a0001c0001t0042g0168 a0001c0002t0002g0065 a0001c0002t0002g0076 a0001c0002t0003g0022 a0001c0002t0003g0055 a0001c0002t0003g0127 a0001c0002t0003g0170 a0001c0003t0016g0005 a0001c0003t0026g0032 a0002c0004t0035g0084	91	230	0.3957	-11	c.147 others(32): Show c.147+100004_147+100014delTTTTTTTTTTT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152001526	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0153 a0001c0001t0004g0153	1	230	0.0044	-11	c.147 others(30): Show c.147+96793_147+96803delTTTTTTTTTTT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152029512	GAAAAGAA others(4): Show GAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	230	0.0044	-11	c.147 others(30): Show c.147+68807_147+68817delTCTTTTCTTTT	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNG2_chr22_36555857_36708752	36574789	ACAAAACA others(4): Show ACAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00558.hp2 others(44): Show HG00280.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00741.hp1 HG01106.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01884.hp2 HG01934.hp2 HG02004.hp1 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02258.hp2 HG02280.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02723.hp2 HG02886.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03486.hp2 HG03490.hp1 HG03579.hp1 HG03704.hp1 HG04199.hp2 HG04228.hp2 NA18906.hp2 NA18979.hp1 NA19003.hp1 NA19030.hp2 NA19064.hp2 NA19066.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(21): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0037 a0001c0001t0066 a0001c0001t0069 a0001c0001t0084 a0001c0001t0085 a0001c0001t0088 a0001c0001t0089 a0001c0001t0097 a0001c0001t0098 a0001c0001t0106 a0001c0001t0107	a0001c0001t0004g0008 a0001c0001t0004g0015 a0001c0001t0004g0019 others(44): Show a0001c0001t0004g0008 a0001c0001t0004g0015 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0059 a0001c0001t0004g0076 a0001c0001t0004g0083 a0001c0001t0005g0110 a0001c0001t0005g0120 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0134 a0001c0001t0006g0142 a0001c0001t0006g0153 a0001c0001t0006g0154 a0001c0001t0006g0156 a0001c0001t0006g0162 a0001c0001t0006g0175 a0001c0001t0009g0122 a0001c0001t0010g0055 a0001c0001t0010g0060 a0001c0001t0014g0070 a0001c0001t0014g0084 a0001c0001t0015g0007 a0001c0001t0015g0043 a0001c0001t0016g0089 a0001c0001t0016g0093 a0001c0001t0021g0114 a0001c0001t0021g0118 a0001c0001t0022g0129 a0001c0001t0022g0132 a0001c0001t0027g0061 a0001c0001t0028g0075 a0001c0001t0029g0080 a0001c0001t0037g0091 a0001c0001t0066g0133 a0001c0001t0069g0138 a0001c0001t0084g0183 a0001c0001t0085g0187 a0001c0001t0088g0197 a0001c0001t0089g0191 a0001c0001t0097g0199 a0001c0001t0098g0200 a0001c0001t0106g0207 a0001c0001t0107g0208	47	214	0.2196	-11	c.296 others(28): Show c.296-8307_296-8297delGTTTTGTTTTG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	2/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36618934	AAAACAAA others(4): Show AAAACAAAAAGC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00438.hp2 others(127): Show HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18946.hp2 NA18961.hp2 NA18963.hp1 NA18975.hp2 NA18979.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19043.hp2 NA19055.hp2 NA19064.hp2 NA19066.hp2 NA19074.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(72): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0001t0065 a0001c0001t0067 a0001c0001t0069 a0001c0001t0070 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0087 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0102 a0001c0001t0105 a0001c0001t0107 a0001c0001t0108 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(126): Show a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0035 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0074 a0001c0001t0002g0079 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0003g0141 a0001c0001t0003g0159 a0001c0001t0003g0169 a0001c0001t0003g0172 a0001c0001t0003g0176 a0001c0001t0004g0008 a0001c0001t0004g0015 a0001c0001t0004g0019 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0052 a0001c0001t0004g0076 a0001c0001t0004g0083 a0001c0001t0005g0110 a0001c0001t0005g0120 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0006g0142 a0001c0001t0006g0144 a0001c0001t0006g0153 a0001c0001t0006g0154 a0001c0001t0006g0156 a0001c0001t0006g0162 a0001c0001t0006g0175 a0001c0001t0007g0003 a0001c0001t0007g0092 a0001c0001t0008g0139 a0001c0001t0008g0150 a0001c0001t0008g0174 a0001c0001t0009g0111 a0001c0001t0009g0119 a0001c0001t0009g0121 a0001c0001t0009g0122 a0001c0001t0010g0060 a0001c0001t0010g0069 a0001c0001t0011g0102 a0001c0001t0012g0149 a0001c0001t0013g0180 a0001c0001t0013g0181 a0001c0001t0013g0189 a0001c0001t0014g0070 a0001c0001t0014g0084 a0001c0001t0015g0007 a0001c0001t0016g0093 a0001c0001t0018g0028 a0001c0001t0018g0036 a0001c0001t0020g0100 a0001c0001t0020g0101 a0001c0001t0021g0114 a0001c0001t0021g0118 a0001c0001t0022g0129 a0001c0001t0022g0132 a0001c0001t0023g0113 a0001c0001t0024g0163 a0001c0001t0025g0182 a0001c0001t0026g0002 a0001c0001t0029g0080 a0001c0001t0031g0012 a0001c0001t0033g0048 a0001c0001t0034g0030 a0001c0001t0036g0045 a0001c0001t0037g0091 a0001c0001t0039g0022 a0001c0001t0047g0056 a0001c0001t0048g0013 a0001c0001t0049g0094 a0001c0001t0050g0096 a0001c0001t0051g0095 a0001c0001t0054g0103 a0001c0001t0056g0105 a0001c0001t0057g0107 a0001c0001t0058g0108 a0001c0001t0060g0112 a0001c0001t0061g0115 a0001c0001t0065g0117 a0001c0001t0067g0125 a0001c0001t0069g0138 a0001c0001t0070g0136 a0001c0001t0073g0164 a0001c0001t0074g0171 a0001c0001t0075g0143 a0001c0001t0076g0168 a0001c0001t0077g0140 a0001c0001t0078g0151 a0001c0001t0081g0161 a0001c0001t0082g0152 a0001c0001t0083g0179 a0001c0001t0084g0183 a0001c0001t0085g0187 a0001c0001t0087g0186 a0001c0001t0089g0191 a0001c0001t0090g0194 a0001c0001t0091g0188 a0001c0001t0092g0190 a0001c0001t0094g0193 a0001c0001t0095g0192 a0001c0001t0096g0185 a0001c0001t0098g0200 a0001c0001t0099g0198 a0001c0001t0100g0201 a0001c0001t0102g0205 a0001c0001t0105g0206 a0001c0001t0107g0208 a0001c0001t0108g0209 a0001c0001t0110g0210 a0001c0001t0111g0212 a0001c0001t0112g0213	130	214	0.6075	-11	c.212 others(30): Show c.212-31397_212-31387delGCTTTTTGTTT	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36661966	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03130.hp2 HG02572.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0065 a0001c0001t0056 a0001c0001t0065	a0001c0001t0056g0105 a0001c0001t0065g0117 a0001c0001t0056g0105 a0001c0001t0065g0117	2	214	0.0094	-11	c.211 others(30): Show c.211+40389_211+40399delAAAAAAAAAAA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG3_chr16_24251335_24367412	24257367	GGGAGAGA others(4): Show GGGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03209.hp1 HG02886.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0010 a0001c0001t0001g0011	2	366	0.0055	-11	c.211 others(26): Show c.211+404_211+414delGAGAGAGAGAG	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24257369	GAGAGAGA others(4): Show GAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	366	0.0027	-11	c.211 others(26): Show c.211+405_211+415delAGAGAGAGAGA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3			chr16	TogoVar
CACNG3_chr16_24251335_24367412	24317627	ACAGACAG others(4): Show ACAGACAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02647.hp1 HG01261.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0177 a0001c0001t0001g0119 a0001c0001t0001g0177	2	366	0.0055	-11	c.212 others(30): Show c.212-29106_212-29096delCAGACAGAAAG	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3			chr16	TogoVar
CACNG5_chr17_66830117_66899751	66888543	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02723.hp2 HG02886.hp1 others(1): Show HG02572.hp2 HG02723.hp2 HG02886.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0025 a0001c0001t0113 a0001c0002t0025 a0001c0001t0025 a0001c0001t0113 a0001c0002t0025	a0001c0001t0025g0247 a0001c0001t0113g0117 a0001c0002t0025g0088 others(1): Show a0001c0001t0025g0247 a0001c0001t0113g0117 a0001c0002t0025g0088 a0001c0002t0025g0089	4	372	0.0108	-11	c.33 others(22): Show c.3316_*3326delAAAAAAAAAAA	CACNG5	ENSG00000075429.9	transcript	ENST00000533854.6	protein_coding	6/6	3316	INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNG5_chr17_66830117_66899751	66896424	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00673.hp1 HG02080.hp2 others(16): Show HG00408.hp1 HG00673.hp1 HG02080.hp2 HG02132.hp2 HG02155.hp2 NA18747.hp1 NA18957.hp2 NA18959.hp1 NA18966.hp1 NA18977.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19003.hp2 NA19065.hp1 NA19074.hp2 NA19084.hp2 NA19086.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0029 a0001c0001t0047 others(1): Show a0001c0001t0005 a0001c0001t0029 a0001c0001t0047 a0001c0001t0048	a0001c0001t0005g0002 a0001c0001t0005g0095 a0001c0001t0005g0110 others(14): Show a0001c0001t0005g0002 a0001c0001t0005g0095 a0001c0001t0005g0110 a0001c0001t0005g0134 a0001c0001t0005g0136 a0001c0001t0005g0137 a0001c0001t0005g0140 a0001c0001t0005g0142 a0001c0001t0005g0161 a0001c0001t0005g0200 a0001c0001t0005g0229 a0001c0001t0005g0249 a0001c0001t0005g0312 a0001c0001t0029g0123 a0001c0001t0029g0278 a0001c0001t0047g0144 a0001c0001t0048g0135	19	372	0.0511	-11	c.11 others(24): Show c.11185_*11195delTTTTTTTTTTT	CACNG5	ENSG00000075429.9	transcript	ENST00000533854.6	protein_coding		1674		chr17	TogoVar
CACNG6_chr19_53986637_54017666	54002273	TTGTTTTT others(4): Show TTGTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0081 a0001c0002t0002g0081	1	430	0.0023	-11	c.544 others(28): Show c.544+2504_544+2514delGTTTTTTTTGT	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54004334	TTTGTGTG others(4): Show TTTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18970.hp2 HG00609.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0308 a0001c0001t0003g0193 a0001c0001t0001g0308 a0001c0001t0003g0193	2	430	0.0047	-11	c.544 others(28): Show c.544+4565_544+4575delTGTGTGTGTGT	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53909837	AGAGCAGG others(4): Show AGAGCAGGATGT	A A	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0352	1	364	0.0028	-11	c.-30 others(26): Show c.-30+322_-30+332delAGCAGGATGTG	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG8_chr19_53957937_53995215	53963562	TCCCACTC others(4): Show TCCCACTCGCGC	T T	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0116 a0002c0003t0116	a0002c0003t0116g0268 a0002c0003t0116g0268	1	394	0.0025	-11	c.283 others(26): Show c.283+141_283+151delACTCGCGCCCC	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CADM1_chr11_115164236_115509415	115172748	TTTTTTTT others(4): Show TTTTTTTTTTTA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG02970.hp1 others(3): Show HG02451.hp1 HG02559.hp2 HG02970.hp1 HG03041.hp1 HG03453.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 others(3): Show a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0056 a0001c0001t0065	a0001c0001t0028g0002 a0001c0001t0029g0056 a0001c0001t0030g0098 others(3): Show a0001c0001t0028g0002 a0001c0001t0029g0056 a0001c0001t0030g0098 a0001c0001t0031g0020 a0001c0001t0056g0161 a0001c0001t0065g0017	6	164	0.0366	-11	c.37 others(22): Show c.3715_*3725delTAAAAAAAAAA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	12/12	3715		chr11	TogoVar
CADM1_chr11_115164236_115509415	115259290	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0012 a0001c0001t0019g0012	1	164	0.0061	-11	c.125 others(30): Show c.125-18881_125-18871delAAAAAAAAAAA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115295535	TATATATA others(4): Show TATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp1 HG01169.hp1 others(11): Show HG00741.hp1 HG01106.hp1 HG01169.hp1 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01515.hp2 HG02071.hp2 HG02486.hp1 HG02523.hp2 HG02698.hp2 HG02970.hp2 HG03225.hp1 NA19010.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0040 a0001c0001t0063 a0002c0003t0005 a0003c0004t0005	a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0002g0037 others(11): Show a0001c0001t0001g0144 a0001c0001t0001g0157 a0001c0001t0002g0037 a0001c0001t0002g0125 a0001c0001t0002g0148 a0001c0001t0005g0029 a0001c0001t0005g0038 a0001c0001t0005g0088 a0001c0001t0005g0136 a0001c0001t0011g0164 a0001c0001t0040g0068 a0001c0001t0063g0011 a0002c0003t0005g0001 a0003c0004t0005g0030	14	164	0.0854	-11	c.125 others(30): Show c.125-55126_125-55116delTATATATATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115295536	ATATATAT others(4): Show ATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0089	1	164	0.0061	-11	c.125 others(30): Show c.125-55127_125-55117delATATATATATA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM2_chr3_84953989_86079429	84984356	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG01074.hp1 others(16): Show HG00140.hp1 HG00280.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01243.hp1 HG01515.hp2 HG01981.hp1 HG01981.hp2 HG02129.hp2 HG02258.hp1 HG02559.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03834.hp2 HG04115.hp1 NA18949.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0001t0025 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0004t0033	a0001c0001t0001g0115 a0001c0001t0002g0119 a0001c0001t0003g0113 others(16): Show a0001c0001t0001g0115 a0001c0001t0002g0119 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0121 a0001c0001t0004g0117 a0001c0001t0005g0120 a0001c0001t0005g0128 a0001c0001t0012g0129 a0001c0001t0014g0118 a0001c0001t0019g0130 a0001c0001t0019g0131 a0001c0001t0021g0126 a0001c0001t0021g0127 a0001c0001t0025g0132 a0001c0001t0028g0122 a0001c0001t0031g0124 a0001c0001t0032g0112 a0001c0004t0033g0110	19	146	0.1301	-11	c.61+ others(28): Show c.61+24707_61+24717delAAAAAAAAAAA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85180514	GAAAAAAA others(4): Show GAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	146	0.0069	-11	c.61+ others(30): Show c.61+220859_61+220869delAAAAAAAAAAA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85212871	TTTCTTTC others(4): Show TTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0133 a0001c0001t0015g0133	1	146	0.0069	-11	c.61+ others(30): Show c.61+253206_61+253216delCTTTCTTTCTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85530322	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0075	1	146	0.0069	-11	c.62- others(30): Show c.62-196184_62-196174delTTTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85541768	TTATATTT others(4): Show TTATATTTTATA	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	146	0.0069	-11	c.62- others(30): Show c.62-184748_62-184738delTTTATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85552366	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG06807.hp1 HG03491.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0019 a0001c0001t0015 a0001c0001t0019	a0001c0001t0015g0077 a0001c0001t0019g0130 a0001c0001t0015g0077 a0001c0001t0019g0130	2	146	0.0137	-11	c.62- others(30): Show c.62-174136_62-174126delTTTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85810532	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp1 HG02976.hp2 others(1): Show HG02451.hp2 HG02886.hp1 HG02976.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0011 a0001c0002t0007 a0001c0002t0011	a0001c0002t0007g0095 a0001c0002t0011g0012 a0001c0002t0011g0140 others(1): Show a0001c0002t0007g0095 a0001c0002t0011g0012 a0001c0002t0011g0140 a0001c0002t0011g0143	4	146	0.0274	-11	c.238 others(28): Show c.238+8350_238+8360delTTTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85824434	GGTGAGTG others(4): Show GGTGAGTGCACA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00621.hp2 others(62): Show HG00423.hp1 HG00423.hp2 HG00621.hp2 HG00738.hp1 HG01099.hp2 HG01175.hp1 HG01243.hp1 HG01361.hp2 HG01515.hp2 HG01884.hp2 HG01981.hp2 HG02015.hp1 HG02129.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18977.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19030.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0027 a0001c0001t0029 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0001t0043 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0002t0048 a0002c0005t0004	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0031 others(62): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0002g0001 a0001c0001t0002g0019 a0001c0001t0002g0023 a0001c0001t0002g0052 a0001c0001t0002g0100 a0001c0001t0002g0119 a0001c0001t0002g0138 a0001c0001t0004g0053 a0001c0001t0004g0064 a0001c0001t0004g0075 a0001c0001t0004g0117 a0001c0001t0005g0061 a0001c0001t0005g0071 a0001c0001t0005g0083 a0001c0001t0005g0120 a0001c0001t0005g0123 a0001c0001t0005g0128 a0001c0001t0007g0059 a0001c0001t0007g0082 a0001c0001t0008g0101 a0001c0001t0009g0008 a0001c0001t0009g0037 a0001c0001t0009g0066 a0001c0001t0009g0094 a0001c0001t0010g0020 a0001c0001t0010g0067 a0001c0001t0010g0146 a0001c0001t0014g0021 a0001c0001t0014g0026 a0001c0001t0014g0118 a0001c0001t0015g0076 a0001c0001t0015g0077 a0001c0001t0015g0133 a0001c0001t0017g0089 a0001c0001t0017g0135 a0001c0001t0018g0035 a0001c0001t0018g0039 a0001c0001t0027g0022 a0001c0001t0029g0145 a0001c0001t0032g0112 a0001c0001t0035g0036 a0001c0001t0036g0106 a0001c0001t0039g0072 a0001c0001t0040g0024 a0001c0001t0043g0060 a0001c0001t0047g0038 a0001c0001t0049g0033 a0001c0001t0050g0107 a0001c0001t0052g0002 a0001c0002t0048g0096 a0002c0005t0004g0058	65	146	0.4452	-11	c.238 others(30): Show c.238+22242_238+22252delAGTGCACAGTG	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85897241	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02895.hp2 HG02486.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0050 a0001c0001t0002 a0001c0001t0050	a0001c0001t0002g0138 a0001c0001t0050g0107 a0001c0001t0002g0138 a0001c0001t0050g0107	2	146	0.0137	-11	c.529 others(30): Show c.529+10943_529+10953delTTTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122343744	ATCAACTC others(4): Show ATCAACTCAATT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02647.hp2 HG02723.hp1 others(9): Show HG01243.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02965.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0007 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0007 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0089 others(9): Show a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0002t0001g0002 a0001c0002t0007g0086 a0001c0003t0001g0074 a0001c0005t0001g0125	12	126	0.0952	-11	c.361 others(30): Show c.3612+1819_3612+1829delAATTGAGTTGA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	28/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122351372	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02970.hp2 HG03195.hp2 HG02280.hp2 HG02970.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0003t0001g0126 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0003t0001g0126	3	126	0.0238	-11	c.350 others(30): Show c.3505-5702_3505-5692delTTTTTTTTTTT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	27/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122352363	TTAAAGTT others(4): Show TTAAAGTTTAGA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp1 HG02965.hp2 others(2): Show HG02723.hp2 HG02886.hp1 HG02965.hp2 HG03195.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0002 a0002c0006t0002 a0001c0001t0002 a0002c0006t0002	a0001c0001t0002g0006 a0001c0001t0002g0076 a0001c0001t0002g0084 others(2): Show a0001c0001t0002g0006 a0001c0001t0002g0076 a0001c0001t0002g0084 a0001c0001t0002g0107 a0002c0006t0002g0055	5	126	0.0397	-11	c.350 others(30): Show c.3505-6693_3505-6683delTCTAAACTTTA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	27/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122399660	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03486.hp2 HG03225.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0001 a0001c0001t0001 a0002c0006t0001	a0001c0001t0001g0066 a0002c0006t0001g0059 a0001c0001t0001g0066 a0002c0006t0001g0059	2	126	0.0159	-11	c.274 others(30): Show c.2747-6089_2747-6079delAAAAAAAAAAA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	20/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122430907	AAGAGAAC others(4): Show AAGAGAACTATG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18522.hp2 HG02630.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0010 a0001c0002t0002g0114 a0001c0002t0001g0010 a0001c0002t0002g0114	2	126	0.0159	-11	c.247 others(30): Show c.2476+7423_2476+7433delCATAGTTCTCT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	17/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122447543	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0006 a0003c0009t0006	a0003c0009t0006g0122 a0003c0009t0006g0122	1	126	0.0079	-11	c.228 others(30): Show c.2288+3820_2288+3830delAAAAAAAAAAA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	15/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122508449	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02886.hp2 HG02965.hp1 others(6): Show HG02723.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0088 others(6): Show a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0002g0006 a0001c0001t0002g0076 a0001c0002t0001g0123	9	126	0.0714	-11	c.154 others(30): Show c.1542+4789_1542+4799delAAAAAAAAAAA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	9/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122686742	TGGCACAA others(4): Show TGGCACAATCTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01069.hp1 HG01243.hp2 others(7): Show HG00280.hp2 HG01069.hp1 HG01243.hp2 HG02145.hp2 HG02647.hp2 HG02970.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0005 others(1): Show a0001c0002 a0001c0003 a0001c0005 a0002c0006	a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 others(4): Show a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0005t0001 a0001c0005t0004 a0002c0006t0001 a0002c0006t0002	a0001c0002t0001g0019 a0001c0002t0001g0026 a0001c0002t0001g0038 others(7): Show a0001c0002t0001g0019 a0001c0002t0001g0026 a0001c0002t0001g0038 a0001c0002t0004g0067 a0001c0003t0001g0126 a0001c0005t0001g0087 a0001c0005t0001g0125 a0001c0005t0004g0072 a0002c0006t0001g0059 a0002c0006t0002g0055	10	126	0.0794	-11	c.454 others(30): Show c.454-23184_454-23174delGAGATTGTGCC	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122734376	AAAAAAAA others(4): Show AAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	126	0.0079	-11	c.453 others(28): Show c.453+2568_453+2578delCTTTTTTTTTT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122803974	GAAAAAAA others(4): Show GAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0039 a0001c0007t0002g0039	1	126	0.0079	-11	c.340 others(30): Show c.340-66917_340-66907delTTTTTTTTTTT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	1/29			chr7	TogoVar
CADPS_chr3_62393348_62880416	62420902	AGGCACAC others(4): Show AGGCACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03453.hp2 HG02647.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0158 a0001c0001t0002g0159	2	160	0.0125	-11	c.377 others(32): Show c.3777+17191_3777+17201delGTGTGTGTGCC	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	28/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62429078	TATCAGGA others(4): Show TATCAGGAACTA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0100 a0002c0008t0001g0100	1	160	0.0063	-11	c.377 others(30): Show c.3777+9015_3777+9025delTAGTTCCTGAT	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	28/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62462055	GCTTGCCC others(4): Show GCTTGCCCTCTT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02647.hp2 HG02559.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0159 a0001c0001t0002g0152 a0001c0001t0002g0159	2	160	0.0125	-11	c.363 others(30): Show c.3636+3301_3636+3311delAAGAGGGCAAG	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	26/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62475584	GAAAAAAA others(4): Show GAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03516.hp2 HG06807.hp1 HG03471.hp2 HG03516.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0092 a0001c0001t0001g0127 a0001c0001t0001g0020 a0001c0001t0001g0092 a0001c0001t0001g0127	3	160	0.0188	-11	c.333 others(30): Show c.3330-1275_3330-1265delTTTTTTTTTTT	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	23/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62518670	TTCTTCCT others(4): Show TTCTTCCTTACC	T T	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	160	0.0063	-11	c.229 others(28): Show c.2292-431_2292-421delGGTAAGGAAGA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	13/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62567564	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0156 a0001c0003t0002g0156	1	160	0.0063	-11	c.164 others(30): Show c.1644+3297_1644+3307delAAAAAAAAAAA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	9/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62599779	ATTATATA others(4): Show ATTATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0156 a0001c0003t0002g0156	1	160	0.0063	-11	c.132 others(30): Show c.1326-7042_1326-7032delATTATATATAA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	6/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62649543	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 NA19240.hp2 others(1): Show HG02895.hp2 HG02897.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0010 a0001c0011 a0001c0005 a0001c0010 a0001c0011	a0001c0005t0001 a0001c0010t0001 a0001c0011t0001 a0001c0005t0001 a0001c0010t0001 a0001c0011t0001	a0001c0005t0001g0028 a0001c0005t0001g0029 a0001c0010t0001g0126 others(1): Show a0001c0005t0001g0028 a0001c0005t0001g0029 a0001c0010t0001g0126 a0001c0011t0001g0146	4	160	0.0250	-11	c.120 others(30): Show c.1203+1293_1203+1303delAAAAAAAAAAA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	5/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62722438	GTGAACAT others(4): Show GTGAACATCTCA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01975.hp1 HG01074.hp2 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0103 a0001c0001t0001g0053 a0001c0001t0001g0103	2	160	0.0125	-11	c.888 others(30): Show c.888+30992_888+31002delTGAGATGTTCA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	3/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62766712	CTTTCCTA others(4): Show CTTTCCTAAAAG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02698.hp2 HG00639.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0001 a0001c0001t0005g0002 a0001c0001t0003g0001 a0001c0001t0005g0002	2	160	0.0125	-11	c.442 others(26): Show c.442-739_442-729delCTTTTAGGAAA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	1/29			chr3	TogoVar
CAD_chr2_27212369_27248943	27221753	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18968.hp2 HG01884.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0105 a0001c0005t0001g0161 a0001c0001t0001g0105 a0001c0005t0001g0161	2	258	0.0078	-11	c.352 others(26): Show c.352+423_353-414delTTTTTTTTTTT	CAD	ENSG00000084774.14	transcript	ENST00000264705.9	protein_coding	3/43		INFO_REALIGN_3_PRIME	chr2	TogoVar

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