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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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
C8orf58_chr8_22594599_22609142	22599271	T T	TTCCTCGC others(35): Show TTCCTCGCCCCTCCCCTCCCTCTCCTCGCCCCTCCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 NA18955.hp2 NA18956.hp2 others(6): Show HG02056.hp2 NA18955.hp2 NA18956.hp2 NA18970.hp2 NA18974.hp1 NA18986.hp2 NA18998.hp2 NA19010.hp1 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0003 a0001c0013t0003 a0001c0002t0003 a0001c0013t0003	a0001c0002t0003g0006 a0001c0002t0003g0013 a0001c0013t0003g0006 a0001c0002t0003g0006 a0001c0002t0003g0013 a0001c0013t0003g0006	9	332	0.0271	42	c.-45 others(51): Show c.-450_-449insTCCTCGCCCCTCCCCTCCCTCTCCTCGCCCCTCCCC TCCCTC	C8orf58	ENSG00000241852.11	transcript	ENST00000289989.10	protein_coding		327		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144530154	A A	ACCCGCGG others(35): Show ACCCGCGGCCAGCGGAGGGCGAGGCGGTGCCCGCGGGAACTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	398	0.0025	42	c.-12 others(53): Show c.-1280_-1239dupCCAGTTCCCGCGGGCACCGCCTCGCCCTCCGCTG GCCGCGGG	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		1044		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531241	A A	AGCGAGCA others(35): Show AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA19009.hp2 NA18954.hp1 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0006 a0001c0002t0002g0001 a0001c0002t0002g0006	2	398	0.0050	42	c.-23 others(53): Show c.-2326_-2325insCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2131		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531359	A A	AGCGAGCA others(35): Show AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA19009.hp2 NA18954.hp1 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0006 a0001c0002t0002g0001 a0001c0002t0002g0006	2	398	0.0050	42	c.-24 others(53): Show c.-2444_-2443insCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2249		chr8	TogoVar
C9orf72_chr9_27541546_27578481	27573523	C C	CGCCCCGG others(35): Show CGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02055.hp1 HG02970.hp1 others(2): Show HG00741.hp2 HG02055.hp1 HG02970.hp1 NA18961.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0010 a0001c0001t0003g0044 a0001c0001t0003g0140 others(2): Show a0001c0001t0003g0010 a0001c0001t0003g0044 a0001c0001t0003g0140 a0001c0001t0003g0269 a0001c0002t0002g0256	5	438	0.0114	42	c.-13 others(51): Show c.-138_-137insCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGC CGGGGC	C9orf72	ENSG00000147894.17	transcript	ENST00000380003.8	protein_coding		43		chr9	TogoVar
CA10_chr17_51625320_52163714	51839506	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAAAAAAGGAAGCAAGACTCCTTCTC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02896.hp1 HG02647.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0001 a0001c0001t0008 a0001c0002t0001	a0001c0001t0008g0096 a0001c0002t0001g0050 a0001c0001t0008g0096 a0001c0002t0001g0050	2	156	0.0128	42	c.279 others(61): Show c.279+91483_279+91484insGAGAAGGAGTCTTGCTTCCTTTTTTT TTTTTTTTTTTTTTTT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51849145	T T	TTATATAT others(35): Show TTATATATATACATATATGTATATATATATACATATATGTATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	156	0.0064	42	c.279 others(61): Show c.279+81803_279+81844dupTATACATATATGTATATATATATACA TATATGTATATATATA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51942538	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02647.hp1 HG04184.hp2 others(1): Show HG00423.hp2 HG02647.hp1 HG04184.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0046 a0001c0001t0002g0039 a0001c0001t0002g0049 others(1): Show a0001c0001t0001g0046 a0001c0001t0002g0039 a0001c0001t0002g0049 a0001c0001t0002g0054	4	156	0.0256	42	c.137 others(61): Show c.137-11407_137-11406insTATATATATATATATATATATATATA TATATATATATATATA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	2/8			chr17	TogoVar
CA6_chr1_8940868_8980092	8973724	C C	CTTTCTTT others(35): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0338 a0002c0001t0011g0338	1	452	0.0022	42	c.845 others(57): Show c.845-896_845-855dupTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0050 a0001c0001t0018g0050	1	344	0.0029	42	c.36 others(57): Show c.36-973_*36-972insGTGTATATATATATATATATATATATATAT ATATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CAAP1_chr9_26835685_26897802	26872553	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0028 a0002c0003t0001g0028	1	372	0.0027	42	c.666 others(61): Show c.666-11415_666-11414insATATATATATATATATATATATATAT ATATATATATATATAT	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	4/5			chr9	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GATATATA others(35): Show GATATATATATATGCTACATATATATATGCTAGATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18940.hp2 NA19012.hp1 HG04115.hp2 NA18940.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0144 a0001c0001t0001g0190 a0001c0001t0001g0095 a0001c0001t0001g0144 a0001c0001t0001g0190	3	324	0.0093	42	c.565 others(59): Show c.565-1863_565-1862insATATATATATCTAGCATATATATATGTA GCATATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49346120	T T	TATATATA others(35): Show TATATATATGCTAGATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0011 a0001c0001t0020g0011	1	324	0.0031	42	c.565 others(59): Show c.565-1883_565-1882insGATATATATATATATATATATATATATA TCTAGCATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CABLES2_chr20_62383634_62412285	62398106	A A	ACGGTGGT others(35): Show ACGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0132 a0001c0001t0009g0132	1	400	0.0025	42	c.363 others(59): Show c.363-1515_363-1514insCCACCACCACCACCACCACCACCATCAC CACCACCACCACCG	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CACNA1A_chr19_13201442_13511479	13413884	A A	AAGAAAAG others(35): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18944.hp1 HG04204.hp2 NA18944.hp1	a0003 a0039 a0003 a0039	a0003c0046 a0039c0068 a0003c0046 a0039c0068	a0003c0046t0003 a0039c0068t0001 a0003c0046t0003 a0039c0068t0001	a0003c0046t0003g0116 a0039c0068t0001g0171 a0003c0046t0003g0116 a0039c0068t0001g0171	2	218	0.0092	42	c.539 others(61): Show c.539+38991_539+38992insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13413888	A A	AAGAAAAG others(35): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18975.hp2 NA21309.hp2 HG01099.hp1 NA18975.hp2 NA21309.hp2	a0019 a0021 a0022 a0019 a0021 a0022	a0019c0079 a0021c0090 a0022c0095 a0019c0079 a0021c0090 a0022c0095	a0019c0079t0007 a0021c0090t0007 a0022c0095t0003 a0019c0079t0007 a0021c0090t0007 a0022c0095t0003	a0019c0079t0007g0067 a0021c0090t0007g0162 a0022c0095t0003g0183 a0019c0079t0007g0067 a0021c0090t0007g0162 a0022c0095t0003g0183	3	218	0.0138	42	c.539 others(61): Show c.539+38987_539+38988insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	138001301	C C	CTACAAAA others(35): Show CTACAAAAATGGGTGATAGCTAATGGGTATGAGTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00544.hp2 others(90): Show HG00280.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00738.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG02015.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03834.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18963.hp2 NA18964.hp2 NA18971.hp1 NA18982.hp2 NA18983.hp1 NA18990.hp1 NA18991.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1	a0001 a0002 a0007 others(6): Show a0001 a0002 a0007 a0015 a0017 a0018 a0019 a0020 a0021	a0001c0002 a0001c0003 a0001c0007 others(18): Show a0001c0002 a0001c0003 a0001c0007 a0001c0012 a0001c0013 a0001c0017 a0001c0018 a0001c0032 a0001c0041 a0001c0048 a0001c0050 a0001c0051 a0001c0053 a0002c0001 a0007c0016 a0015c0049 a0017c0047 a0018c0046 a0019c0045 a0020c0052 a0021c0027	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(43): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0011 a0001c0002t0013 a0001c0002t0030 a0001c0002t0033 a0001c0002t0037 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0003t0034 a0001c0003t0043 a0001c0003t0044 a0001c0003t0045 a0001c0007t0001 a0001c0007t0003 a0001c0012t0001 a0001c0012t0002 a0001c0012t0004 a0001c0013t0008 a0001c0013t0009 a0001c0013t0014 a0001c0017t0006 a0001c0017t0016 a0001c0018t0003 a0001c0018t0009 a0001c0018t0018 a0001c0032t0001 a0001c0041t0001 a0001c0048t0006 a0001c0050t0040 a0001c0051t0007 a0001c0053t0028 a0002c0001t0002 a0002c0001t0020 a0007c0016t0007 a0015c0049t0002 a0017c0047t0006 a0018c0046t0016 a0019c0045t0007 a0020c0052t0006 a0021c0027t0024	a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0057 others(90): Show a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0072 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0123 a0001c0002t0001g0212 a0001c0002t0001g0218 a0001c0002t0001g0238 a0001c0002t0002g0046 a0001c0002t0004g0067 a0001c0002t0004g0070 a0001c0002t0004g0073 a0001c0002t0005g0024 a0001c0002t0008g0026 a0001c0002t0008g0053 a0001c0002t0008g0065 a0001c0002t0008g0241 a0001c0002t0011g0052 a0001c0002t0013g0012 a0001c0002t0013g0128 a0001c0002t0030g0120 a0001c0002t0033g0025 a0001c0002t0037g0242 a0001c0003t0005g0006 a0001c0003t0005g0016 a0001c0003t0005g0021 a0001c0003t0005g0107 a0001c0003t0005g0130 a0001c0003t0006g0112 a0001c0003t0006g0136 a0001c0003t0007g0106 a0001c0003t0007g0111 a0001c0003t0007g0114 a0001c0003t0007g0118 a0001c0003t0010g0131 a0001c0003t0010g0132 a0001c0003t0010g0134 a0001c0003t0010g0135 a0001c0003t0034g0109 a0001c0003t0043g0127 a0001c0003t0044g0011 a0001c0003t0045g0008 a0001c0007t0001g0034 a0001c0007t0003g0027 a0001c0007t0003g0037 a0001c0007t0003g0038 a0001c0007t0003g0041 a0001c0007t0003g0043 a0001c0007t0003g0044 a0001c0007t0003g0045 a0001c0007t0003g0047 a0001c0007t0003g0056 a0001c0007t0003g0074 a0001c0007t0003g0225 a0001c0012t0001g0031 a0001c0012t0001g0032 a0001c0012t0001g0051 a0001c0012t0002g0050 a0001c0012t0004g0040 a0001c0013t0008g0066 a0001c0013t0009g0099 a0001c0013t0014g0158 a0001c0017t0006g0122 a0001c0017t0016g0119 a0001c0018t0003g0049 a0001c0018t0009g0029 a0001c0018t0018g0033 a0001c0032t0001g0071 a0001c0041t0001g0182 a0001c0048t0006g0101 a0001c0050t0040g0129 a0001c0051t0007g0108 a0001c0053t0028g0105 a0002c0001t0002g0042 a0002c0001t0020g0030 a0007c0016t0007g0054 a0007c0016t0007g0062 a0007c0016t0007g0205 a0015c0049t0002g0100 a0017c0047t0006g0116 a0018c0046t0016g0110 a0019c0045t0007g0117 a0020c0052t0006g0115 a0021c0027t0024g0149	93	248	0.3750	42	c.197 others(61): Show c.1975-5458_1975-5457insTGGGTGATAGCTAATGGGTATGAGTT TCTTTTTTTACAAAAA	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	15/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1D_chr3_53489611_53818733	53682556	T T	TTTTTTTT others(35): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTAGAGACCCTGTCTTA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0047 a0001c0004t0002g0047	1	210	0.0048	42	c.122 others(61): Show c.1220+8740_1220+8741insTTTTTTTTTTTTTTTTTTTTTTTTTT TAGAGACCCTGTCTTA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48			chr3	TogoVar
CACNA1E_chr1_181478517_181813084	181795767	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02723.hp1 HG03098.hp1 others(3): Show HG00408.hp1 HG02723.hp1 HG03098.hp1 HG03209.hp2 HG03239.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0003c0010 a0005c0013	a0001c0001t0005 a0001c0001t0043 a0001c0005t0032 others(3): Show a0001c0001t0005 a0001c0001t0043 a0001c0005t0032 a0002c0002t0002 a0003c0010t0002 a0005c0013t0020	a0001c0001t0005g0086 a0001c0001t0043g0077 a0001c0005t0032g0099 others(3): Show a0001c0001t0005g0086 a0001c0001t0043g0077 a0001c0005t0032g0099 a0002c0002t0002g0184 a0003c0010t0002g0113 a0005c0013t0020g0194	6	206	0.0291	42	c.620 others(59): Show c.6208+743_6208+744insATATATATATATATATATATATATATAT ATATATATATATAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	46/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1H_chr16_1148106_1226768	1185701	G G	GGCGTAGG others(35): Show GGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0067 a0067	a0067c0130 a0067c0130	a0067c0130t0004 a0067c0130t0004	a0067c0130t0004g0309 a0067c0130t0004g0309	1	338	0.0030	42	c.300 others(59): Show c.300-9270_300-9269insCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185810	G G	GGCGTAGG others(35): Show GGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0249 a0001c0001t0005g0249	1	338	0.0030	42	c.300 others(59): Show c.300-9161_300-9160insCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204779	T T	TGGGTGGG others(35): Show TGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0012 a0012	a0012c0036 a0012c0036	a0012c0036t0001 a0012c0036t0001	a0012c0036t0001g0011 a0012c0036t0001g0011	1	338	0.0030	42	c.245 others(59): Show c.2452-284_2452-243dupCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39596331	G G	GGAGATGG others(35): Show GGAGATGGGCAGGGCGGAGAGAGATGGGGGAGCAGGGCGGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01515.hp2 HG01517.hp2 HG00280.hp2 HG01515.hp2 HG01517.hp2	a0001 a0022 a0001 a0022	a0001c0018 a0022c0037 a0001c0018 a0022c0037	a0001c0018t0002 a0022c0037t0041 a0001c0018t0002 a0022c0037t0041	a0001c0018t0002g0157 a0001c0018t0002g0158 a0022c0037t0041g0166 a0001c0018t0002g0157 a0001c0018t0002g0158 a0022c0037t0041g0166	3	236	0.0127	42	c.237 others(59): Show c.237-1812_237-1811insCAGGGCGGAGAGAGATGGGGGAGCAGGG CGGAGAGAGATGGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39686619	T T	TATATGCA others(35): Show TATATGCATATATATATATATATATATATATATATATATATGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0004 a0004	a0004c0049 a0004c0049	a0004c0049t0040 a0004c0049t0040	a0004c0049t0040g0182 a0004c0049t0040g0182	1	236	0.0042	42	c.21 others(51): Show c.218_*219insGCATATATATATATATATATATATATATATATATAT GCATAT	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	37/37	219	INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D1_chr7_81941444_82448777	82140954	T T	TAAAAAAA others(35): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0098 a0001c0001t0006g0098	1	144	0.0069	42	c.355 others(59): Show c.355-4279_355-4278insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54122471	G G	GCCTCCCT others(35): Show GCCTCCCTCCCCACCTCTCCTCCCTCCCTCCCCACCTCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0069 a0001c0024t0001g0069	1	118	0.0085	42	c.-24 others(51): Show c.-243_-242insCCTCCCTCCCCACCTCTCCTCCCTCCCTCCCCACCT CTCCTC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding		80		chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54478660	G G	GTGTATAT others(35): Show GTGTATATATATATATATTGCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00438.hp1 others(8): Show HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00639.hp1 HG01192.hp1 HG01243.hp2 HG02895.hp2 HG03486.hp1 NA18906.hp1 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0011 a0001c0015 a0001c0025 a0001c0042	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0011t0001 a0001c0015t0001 a0001c0025t0004 a0001c0042t0001	a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0045 others(8): Show a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0107 a0001c0002t0001g0082 a0001c0004t0001g0050 a0001c0005t0001g0111 a0001c0011t0001g0109 a0001c0015t0001g0072 a0001c0025t0004g0106 a0001c0042t0001g0078	11	118	0.0932	42	c.382 others(61): Show c.382-24831_382-24830insGTATATATATATATATTGCTATATAT ATATATATATATATAT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54763812	C C	CGTATATA others(35): Show CGTATATATACGTATATATACGTATATATATGTACATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00673.hp1 others(12): Show HG00099.hp2 HG00280.hp1 HG00673.hp1 HG01070.hp2 HG01106.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp1 HG01934.hp2 HG02080.hp1 HG02622.hp1 HG02895.hp1 HG03225.hp1 HG06807.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0006 others(6): Show a0001c0003 a0001c0004 a0001c0006 a0001c0015 a0001c0019 a0001c0028 a0001c0030 a0001c0041 a0002c0020	a0001c0003t0001 a0001c0003t0006 a0001c0004t0001 others(8): Show a0001c0003t0001 a0001c0003t0006 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0015t0001 a0001c0019t0001 a0001c0028t0001 a0001c0030t0001 a0001c0041t0001 a0002c0020t0001	a0001c0003t0001g0038 a0001c0003t0001g0054 a0001c0003t0001g0101 others(12): Show a0001c0003t0001g0038 a0001c0003t0001g0054 a0001c0003t0001g0101 a0001c0003t0001g0110 a0001c0003t0001g0112 a0001c0003t0006g0064 a0001c0004t0001g0022 a0001c0004t0002g0008 a0001c0006t0001g0017 a0001c0015t0001g0072 a0001c0019t0001g0075 a0001c0028t0001g0090 a0001c0030t0001g0028 a0001c0041t0001g0085 a0002c0020t0001g0021	15	118	0.1271	42	c.124 others(59): Show c.1247-406_1247-405insGTATATATACGTATATATACGTATATAT ATGTACATATATAT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	12/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54763814	T T	TATATATA others(35): Show TATATATACGTATATATATGTATATATATGTACATATATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG03130.hp2 others(4): Show HG01884.hp2 HG02572.hp1 HG03130.hp2 HG03471.hp2 HG03486.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0024 a0001c0001t0001g0037 a0001c0001t0001g0053 others(4): Show a0001c0001t0001g0024 a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0068 a0001c0001t0001g0089 a0001c0002t0001g0020 a0001c0005t0001g0052	7	118	0.0593	42	c.124 others(59): Show c.1247-397_1247-396insCGTATATATATGTATATATATGTACATA TATATACATATATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	12/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54763815	A A	ATATATAC others(35): Show ATATATACGTATATATACGTATATATATGTACATATATATACG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0009 a0001c0006t0001g0009	1	118	0.0085	42	c.124 others(59): Show c.1247-397_1247-396insCGTATATATACGTATATATATGTACATA TATATACGTATATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	12/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54763860	T T	TATATATA others(35): Show TATATATACGTATATATACGTATATATATGTACATATATGTAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03195.hp2 HG04115.hp1 HG03041.hp1 HG03195.hp2 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0011 a0001c0003t0001g0042 a0001c0004t0001g0095 a0001c0003t0001g0011 a0001c0003t0001g0042 a0001c0004t0001g0095	3	118	0.0254	42	c.124 others(59): Show c.1247-351_1247-350insCGTATATATACGTATATATATGTACATA TATGTACATATATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	12/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB1_chr17_39168453_39202669	39183337	A A	AAAGAAGA others(35): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0248 a0001c0002t0011g0248	1	396	0.0025	42	c.105 others(59): Show c.1050+375_1050+376insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTT	CACNB1	ENSG00000067191.17	transcript	ENST00000394303.8	protein_coding	11/13			chr17	TogoVar
CACNG2_chr22_36555857_36708752	36680177	T T	TTACCACC others(35): Show TTACCACCACCATCACTACCACCACCATCACTGTCACCACCAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0155	1	214	0.0047	42	c.211 others(61): Show c.211+22147_211+22188dupGTGGTGGTGACAGTGATGGTGGTGGT AGTGATGGTGGTGGTA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding	1/3			chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703760	G G	GCTCGCTC others(35): Show GCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02451.hp2 HG02027.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0024 a0001c0001t0012 a0001c0001t0024	a0001c0001t0012g0149 a0001c0001t0024g0163 a0001c0001t0012g0149 a0001c0001t0024g0163	2	214	0.0094	42	c.-11 others(53): Show c.-1185_-1184insAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGCGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		9		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36706226	C C	CTCTTCTT others(35): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0152 a0001c0001t0082g0152	1	214	0.0047	42	c.-36 others(53): Show c.-3651_-3650insAGGAGAAGGAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		2475		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36706226	C C	CTCTTCTT others(35): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG02559.hp2 HG02717.hp2 HG01074.hp2 HG02559.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0054 a0001c0001t0059 a0001c0001t0013 a0001c0001t0054 a0001c0001t0059	a0001c0001t0013g0189 a0001c0001t0054g0103 a0001c0001t0059g0109 a0001c0001t0013g0189 a0001c0001t0054g0103 a0001c0001t0059g0109	3	214	0.0140	42	c.-36 others(53): Show c.-3651_-3650insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		2475		chr22	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG04228.hp2 NA19005.hp2 others(1): Show HG02071.hp1 HG04228.hp2 NA19005.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0002t0002	a0001c0001t0002g0031 a0001c0001t0006g0250 a0001c0001t0011g0047 others(1): Show a0001c0001t0002g0031 a0001c0001t0006g0250 a0001c0001t0011g0047 a0001c0002t0002g0267	4	430	0.0093	42	c.545 others(57): Show c.545-745_545-744insAAAAAAAAAAAAAAAAAATATATATATATA TATATATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18969.hp1 HG00438.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0184 a0001c0001t0009g0058 a0001c0001t0003g0184 a0001c0001t0009g0058	2	430	0.0047	42	c.545 others(57): Show c.545-745_545-744insAAAAAAAAAAAAAAAATATATATATATATA TATATATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906081	C C	CCTTCTTC others(35): Show CCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0193 a0001c0001t0004g0193	1	364	0.0028	42	c.-34 others(53): Show c.-3466_-3465insCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTC TTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3196		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTCC others(35): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0020 a0001c0001t0006g0020	1	364	0.0028	42	c.-34 others(53): Show c.-3463_-3462insCTCCTCCTCCTCCTCCTCCTCCTCCTTCTTCTTC TTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTCC others(35): Show CCTCCTCCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	364	0.0028	42	c.-34 others(53): Show c.-3463_-3462insCTCCTCCTCCTCCTCCTCCTCCTTCTTCTTCTTC TTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTCC others(35): Show CCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02615.hp1 HG03579.hp2 HG02145.hp2 HG02615.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0005 a0001c0001t0004g0354 a0001c0002t0002g0019 a0001c0001t0004g0005 a0001c0001t0004g0354 a0001c0002t0002g0019	3	364	0.0082	42	c.-34 others(53): Show c.-3463_-3462insCTCCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTC TTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTCC others(35): Show CCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	364	0.0028	42	c.-34 others(53): Show c.-3463_-3462insCTCCTCCTCCTCCTTCTTCTTCTTCTTCTTCTTC TTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53906084	C C	CCTCCTCC others(35): Show CCTCCTCCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0058 a0001c0001t0020g0058	1	364	0.0028	42	c.-34 others(53): Show c.-3463_-3462insCTCCTCCTTCTTCTTCTTCCTCTTCTTCTTCTTC TTCTTCTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding		3193		chr19	TogoVar
CADM2_chr3_84953989_86079429	85431860	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03927.hp2 NA19030.hp1 others(1): Show HG00280.hp2 HG03927.hp2 NA19030.hp1 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0009 a0001c0001t0031 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0031 a0002c0005t0004	a0001c0001t0001g0018 a0001c0001t0009g0066 a0001c0001t0031g0124 others(1): Show a0001c0001t0001g0018 a0001c0001t0009g0066 a0001c0001t0031g0124 a0002c0005t0004g0058	4	146	0.0274	42	c.62- others(61): Show c.62-294650_62-294649insATATATATATATATATATATATATAT ATATATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85431860	C C	CATATGTA others(35): Show CATATGTATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG06807.hp2 NA18977.hp2 HG02293.hp1 HG06807.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0027 a0001c0001t0003 a0001c0001t0005 a0001c0001t0027	a0001c0001t0003g0069 a0001c0001t0005g0071 a0001c0001t0027g0022 a0001c0001t0003g0069 a0001c0001t0005g0071 a0001c0001t0027g0022	3	146	0.0206	42	c.62- others(61): Show c.62-294658_62-294657insGTATATATATATATATATATATATAT ATATATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS_chr3_62393348_62880416	62599489	A A	ATATATAT others(35): Show ATATATATATTTTATATATATTATATATATATTACATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG04184.hp1 HG03654.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0124 a0001c0001t0001g0052 a0001c0001t0001g0124	2	160	0.0125	42	c.132 others(61): Show c.1326-6783_1326-6742dupATATATATGTAATATATATATAATAT ATATAAAATATATATA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	6/29			chr3	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0150 a0002c0002t0024g0150	1	328	0.0031	42	c.912 others(59): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATATATATATTTTT	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(35): Show ATATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02040.hp1 HG02155.hp2 HG00558.hp2 HG02040.hp1 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0152 a0002c0002t0001g0209 a0002c0002t0001g0212 a0002c0002t0001g0152 a0002c0002t0001g0209 a0002c0002t0001g0212	3	328	0.0092	42	c.912 others(59): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATATATTTTTTTTT	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(35): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0196 a0002c0002t0001g0196	1	328	0.0031	42	c.912 others(59): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATTTTTTTTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar

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