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
CSGALNACT1_chr8_19399161_19762277	19657239	T T	TGATAAAC others(17): Show TGATAAACTGAAAGATAAACTGAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00738.hp1 HG01099.hp1 others(21): Show HG00673.hp1 HG00738.hp1 HG01099.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp2 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG03195.hp2 HG03669.hp1 NA18941.hp1 NA18953.hp2 NA18968.hp2 NA18984.hp1 NA19054.hp2 NA19056.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0010	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0002c0004 a0004c0009 a0005c0011 a0010c0018	a0001c0001t0001 a0001c0001t0002 a0001c0002t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0007 a0001c0006t0002 a0002c0004t0003 a0004c0009t0003 a0005c0011t0003 a0010c0018t0003	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0023 others(21): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0108 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0160 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0223 a0001c0002t0007g0142 a0001c0006t0002g0135 a0001c0006t0002g0136 a0002c0004t0003g0020 a0004c0009t0003g0107 a0004c0009t0003g0215 a0005c0011t0003g0180 a0005c0011t0003g0181 a0010c0018t0003g0039	24	238	0.1008	24	c.-39 others(45): Show c.-391-55398_-391-55375dupTTTCAGTTTATCTTTCAGTTTATC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666809	A A	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAAAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	238	0.0042	24	c.-39 others(45): Show c.-391-64945_-391-64944insCTCTCTCTTTCTTTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667016	A A	AAAGAAAG others(17): Show AAAGAAAGAAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	238	0.0042	24	c.-39 others(45): Show c.-391-65152_-391-65151insCCTTCCTTCCTTCCTTTCTTTCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667028	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGGAAAACAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0189 a0001c0002t0007g0189	1	238	0.0042	24	c.-39 others(45): Show c.-391-65164_-391-65163insTTGTTTTCCTTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667032	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0094 a0003c0005t0004g0094	1	238	0.0042	24	c.-39 others(45): Show c.-391-65168_-391-65167insTTCTTTTCCTTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667040	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0050 a0001c0002t0005g0050	1	238	0.0042	24	c.-39 others(45): Show c.-391-65176_-391-65175insTTCTTTTCCTTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667040	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGGAAGGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0177 a0001c0002t0011g0177	1	238	0.0042	24	c.-39 others(45): Show c.-391-65176_-391-65175insTCTTTCTTCCTTCCTTCCTTCCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667040	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	238	0.0042	24	c.-39 others(45): Show c.-391-65176_-391-65175insTCTTCCTTCCTTCCTTCCTTCCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSH1_chr17_63889918_63901574	63898164	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	24	c.-16 others(35): Show c.-1654_-1653insAAGAAAGAAAGAAAGAAAGAAAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1591		chr17	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(17): Show TTTTTTTTTTTTTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02015.hp1 HG02523.hp1 others(4): Show HG00544.hp2 HG02015.hp1 HG02523.hp1 NA18747.hp2 NA18943.hp1 NA18985.hp2 NA19009.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0014 a0001c0005t0005g0058 a0001c0005t0005g0059 a0001c0005t0005g0014 a0001c0005t0005g0058 a0001c0005t0005g0059	7	394	0.0178	24	c.-66 others(41): Show c.-66+3294_-66+3295insTTTTTTTTTTTTGTGTGTGTGTGT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(17): Show TTTTTTTTTTTTTTTTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0061 a0001c0005t0005g0061	1	394	0.0025	24	c.-66 others(41): Show c.-66+3294_-66+3295insTTTTTTTTTTTTTTGTGTGTGTGT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(17): Show TTTTTTTTTTTTTTTTTTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	394	0.0025	24	c.-66 others(41): Show c.-66+3294_-66+3295insTTTTTTTTTTTTTTTTGTGTGTGT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSMD1_chr8_2930361_4999914	2960951	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0053 a0001c0050t0053	a0001c0050t0053g0120 a0001c0050t0053g0120	1	126	0.0079	24	c.970 others(41): Show c.9702+189_9702+190insGTATATATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	62/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3056731	C C	CTTTAATA others(17): Show CTTTAATATAAAGTATTCATATAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02572.hp1 others(7): Show HG02258.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03516.hp1 NA19030.hp2	a0001 a0003 a0012 others(1): Show a0001 a0003 a0012 a0033	a0001c0002 a0001c0020 a0001c0025 others(7): Show a0001c0002 a0001c0020 a0001c0025 a0001c0033 a0001c0043 a0001c0114 a0003c0014 a0003c0058 a0012c0104 a0033c0042	a0001c0002t0028 a0001c0020t0016 a0001c0025t0003 others(7): Show a0001c0002t0028 a0001c0020t0016 a0001c0025t0003 a0001c0033t0003 a0001c0043t0031 a0001c0114t0003 a0003c0014t0055 a0003c0058t0057 a0012c0104t0071 a0033c0042t0004	a0001c0002t0028g0005 a0001c0020t0016g0065 a0001c0025t0003g0077 others(7): Show a0001c0002t0028g0005 a0001c0020t0016g0065 a0001c0025t0003g0077 a0001c0033t0003g0059 a0001c0043t0031g0044 a0001c0114t0003g0119 a0003c0014t0055g0056 a0003c0058t0057g0117 a0012c0104t0071g0058 a0033c0042t0004g0004	10	126	0.0794	24	c.747 others(43): Show c.7475-4085_7475-4084insTTTATATGAATACTTTATATTAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	49/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3127898	T T	TGAAGGAA others(17): Show TGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01934.hp1 HG02257.hp1 others(7): Show HG01884.hp2 HG01934.hp1 HG02257.hp1 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03209.hp1 NA18906.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0014 a0030 a0038	a0001c0003 a0001c0020 a0001c0026 others(7): Show a0001c0003 a0001c0020 a0001c0026 a0001c0045 a0002c0022 a0002c0032 a0007c0088 a0014c0010 a0030c0052 a0038c0066	a0001c0003t0019 a0001c0020t0016 a0001c0026t0006 others(7): Show a0001c0003t0019 a0001c0020t0016 a0001c0026t0006 a0001c0045t0012 a0002c0022t0036 a0002c0032t0050 a0007c0088t0076 a0014c0010t0070 a0030c0052t0049 a0038c0066t0010	a0001c0003t0019g0107 a0001c0020t0016g0065 a0001c0026t0006g0093 others(7): Show a0001c0003t0019g0107 a0001c0020t0016g0065 a0001c0026t0006g0093 a0001c0045t0012g0010 a0002c0022t0036g0048 a0002c0032t0050g0061 a0007c0088t0076g0057 a0014c0010t0070g0084 a0030c0052t0049g0098 a0038c0066t0010g0032	10	126	0.0794	24	c.624 others(43): Show c.6242-9335_6242-9312dupCTTCCTTCCTTCCTTCCTTCCTTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	41/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3155359	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19240.hp1 HG01243.hp2 NA19240.hp1	a0001 a0035 a0001 a0035	a0001c0085 a0035c0098 a0001c0085 a0035c0098	a0001c0085t0020 a0035c0098t0025 a0001c0085t0020 a0035c0098t0025	a0001c0085t0020g0060 a0035c0098t0025g0019 a0001c0085t0020g0060 a0035c0098t0025g0019	2	126	0.0159	24	c.591 others(43): Show c.5914+2514_5914+2537dupAAAAAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	39/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGGGTGTG others(17): Show GGGGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01081.hp1 HG01884.hp2 others(4): Show HG00438.hp2 HG01081.hp1 HG01884.hp2 HG03017.hp2 NA18983.hp2 NA19030.hp1 NA20129.hp2	a0001 a0002 a0019 others(1): Show a0001 a0002 a0019 a0036	a0001c0019 a0001c0081 a0001c0105 others(4): Show a0001c0019 a0001c0081 a0001c0105 a0001c0111 a0002c0022 a0019c0018 a0036c0100	a0001c0019t0078 a0001c0081t0037 a0001c0105t0001 others(4): Show a0001c0019t0078 a0001c0081t0037 a0001c0105t0001 a0001c0111t0045 a0002c0022t0036 a0019c0018t0058 a0036c0100t0017	a0001c0019t0078g0105 a0001c0081t0037g0030 a0001c0105t0001g0029 others(4): Show a0001c0019t0078g0105 a0001c0081t0037g0030 a0001c0105t0001g0029 a0001c0111t0045g0063 a0002c0022t0036g0048 a0019c0018t0058g0068 a0036c0100t0017g0121	7	126	0.0556	24	c.562 others(43): Show c.5621-1628_5621-1627insACACACACACACACACACACACCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3331237	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02723.hp2 HG03225.hp1 HG01884.hp2 HG02723.hp2 HG03225.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0017 a0002c0022 a0005c0065 a0001c0017 a0002c0022 a0005c0065	a0001c0017t0005 a0002c0022t0036 a0005c0065t0023 a0001c0017t0005 a0002c0022t0036 a0005c0065t0023	a0001c0017t0005g0003 a0002c0022t0036g0048 a0005c0065t0023g0050 a0001c0017t0005g0003 a0002c0022t0036g0048 a0005c0065t0023g0050	3	126	0.0238	24	c.363 others(45): Show c.3631+12056_3631+12057insTTTTTTTTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	23/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3382507	T T	TTATATAT others(17): Show TTATATATATATAAATTTATATAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01071.hp1 others(45): Show HG00099.hp2 HG00735.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01884.hp2 HG02056.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG03017.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18979.hp1 NA18984.hp1 NA18995.hp1 NA19030.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0009 a0013 a0014 a0015 a0016 a0017 a0019 a0020 a0021 a0022 a0027 a0029 a0032	a0001c0001 a0001c0002 a0001c0004 others(40): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0017 a0001c0019 a0001c0020 a0001c0021 a0001c0025 a0001c0033 a0001c0039 a0001c0059 a0001c0068 a0001c0108 a0001c0109 a0001c0111 a0001c0114 a0002c0012 a0002c0015 a0002c0022 a0002c0032 a0002c0036 a0002c0037 a0002c0041 a0002c0060 a0003c0014 a0003c0034 a0004c0087 a0005c0064 a0005c0065 a0009c0113 a0013c0027 a0014c0010 a0015c0062 a0016c0063 a0017c0106 a0019c0018 a0020c0024 a0021c0016 a0022c0013 a0027c0023 a0029c0028 a0032c0011	a0001c0001t0002 a0001c0001t0039 a0001c0002t0002 others(44): Show a0001c0001t0002 a0001c0001t0039 a0001c0002t0002 a0001c0002t0028 a0001c0002t0061 a0001c0004t0020 a0001c0004t0063 a0001c0005t0007 a0001c0017t0005 a0001c0019t0078 a0001c0020t0016 a0001c0021t0005 a0001c0025t0003 a0001c0033t0003 a0001c0039t0066 a0001c0059t0001 a0001c0068t0015 a0001c0108t0054 a0001c0109t0038 a0001c0111t0045 a0001c0114t0003 a0002c0012t0017 a0002c0015t0021 a0002c0022t0036 a0002c0032t0050 a0002c0036t0029 a0002c0037t0009 a0002c0041t0027 a0002c0060t0006 a0003c0014t0055 a0003c0034t0030 a0004c0087t0001 a0005c0064t0051 a0005c0065t0023 a0009c0113t0011 a0013c0027t0003 a0014c0010t0070 a0015c0062t0056 a0016c0063t0010 a0017c0106t0012 a0019c0018t0058 a0020c0024t0077 a0021c0016t0048 a0022c0013t0007 a0027c0023t0001 a0029c0028t0024 a0032c0011t0065	a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 others(45): Show a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 a0001c0002t0002g0083 a0001c0002t0028g0005 a0001c0002t0061g0069 a0001c0004t0020g0086 a0001c0004t0063g0095 a0001c0005t0007g0070 a0001c0017t0005g0003 a0001c0019t0078g0105 a0001c0020t0016g0065 a0001c0021t0005g0012 a0001c0025t0003g0077 a0001c0033t0003g0059 a0001c0039t0066g0080 a0001c0059t0001g0036 a0001c0068t0015g0049 a0001c0108t0054g0074 a0001c0109t0038g0013 a0001c0111t0045g0063 a0001c0114t0003g0119 a0002c0012t0017g0088 a0002c0015t0021g0008 a0002c0022t0036g0048 a0002c0032t0050g0061 a0002c0036t0029g0009 a0002c0037t0009g0046 a0002c0041t0027g0018 a0002c0060t0006g0094 a0003c0014t0055g0056 a0003c0034t0030g0038 a0004c0087t0001g0022 a0005c0064t0051g0078 a0005c0065t0023g0050 a0009c0113t0011g0043 a0013c0027t0003g0099 a0014c0010t0070g0084 a0015c0062t0056g0062 a0016c0063t0010g0045 a0017c0106t0012g0042 a0019c0018t0058g0068 a0020c0024t0077g0104 a0021c0016t0048g0106 a0022c0013t0007g0112 a0027c0023t0001g0052 a0029c0028t0024g0040 a0032c0011t0065g0101	48	126	0.3810	24	c.278 others(43): Show c.2782+4963_2782+4986dupTTTATATAAATTTATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	18/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411834	G G	GCACGTAT others(17): Show GCACGTATATATGCACGTATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02886.hp2 HG02922.hp1 others(2): Show HG02486.hp1 HG02886.hp2 HG02922.hp1 HG06807.hp2 NA19240.hp1	a0001 a0002 a0015 others(1): Show a0001 a0002 a0015 a0037	a0001c0068 a0001c0085 a0002c0078 others(2): Show a0001c0068 a0001c0085 a0002c0078 a0015c0062 a0037c0101	a0001c0068t0015 a0001c0085t0020 a0002c0078t0044 others(2): Show a0001c0068t0015 a0001c0085t0020 a0002c0078t0044 a0015c0062t0056 a0037c0101t0008	a0001c0068t0015g0049 a0001c0085t0020g0060 a0002c0078t0044g0064 others(2): Show a0001c0068t0015g0049 a0001c0085t0020g0060 a0002c0078t0044g0064 a0015c0062t0056g0062 a0037c0101t0008g0023	5	126	0.0397	24	c.156 others(43): Show c.1562-2230_1562-2229insTATATATACGTGCATATATACGTG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439309	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0115 a0001c0115	a0001c0115t0042 a0001c0115t0042	a0001c0115t0042g0055 a0001c0115t0042g0055	1	126	0.0079	24	c.156 others(45): Show c.1561+29402_1561+29403insAATATATATATATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439309	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0021 a0002c0015t0021	a0002c0015t0021g0008 a0002c0015t0021g0008	1	126	0.0079	24	c.156 others(45): Show c.1561+29402_1561+29403insAAAATATATATATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3443639	A A	AATATCAA others(17): Show AATATCAAAGTATGCAAATCTTTGT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0036 a0036	a0036c0100 a0036c0100	a0036c0100t0017 a0036c0100t0017	a0036c0100t0017g0121 a0036c0100t0017g0121	1	126	0.0079	24	c.156 others(45): Show c.1561+25049_1561+25072dupACAAAGATTTGCATACTTTGATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3520019	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0027 a0027	a0027c0023 a0027c0023	a0027c0023t0001 a0027c0023t0001	a0027c0023t0001g0052 a0027c0023t0001g0052	1	126	0.0079	24	c.134 others(45): Show c.1345-26294_1345-26293insATATATATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3520020	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA20129.hp1 HG02280.hp2 NA20129.hp1	a0003 a0014 a0003 a0014	a0003c0034 a0014c0010 a0003c0034 a0014c0010	a0003c0034t0030 a0014c0010t0070 a0003c0034t0030 a0014c0010t0070	a0003c0034t0030g0038 a0014c0010t0070g0084 a0003c0034t0030g0038 a0014c0010t0070g0084	2	126	0.0159	24	c.134 others(45): Show c.1345-26295_1345-26294insTATATATATATATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3556391	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18982.hp2 NA19060.hp1 others(1): Show NA18979.hp1 NA18982.hp2 NA19060.hp1 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0007 a0001c0090 others(1): Show a0001c0005 a0001c0007 a0001c0090 a0002c0036	a0001c0005t0002 a0001c0007t0001 a0001c0090t0001 others(1): Show a0001c0005t0002 a0001c0007t0001 a0001c0090t0001 a0002c0036t0029	a0001c0005t0002g0111 a0001c0007t0001g0035 a0001c0090t0001g0027 others(1): Show a0001c0005t0002g0111 a0001c0007t0001g0035 a0001c0090t0001g0027 a0002c0036t0029g0009	4	126	0.0318	24	c.134 others(45): Show c.1344+18553_1344+18554insTATATATATATATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3562415	C C	CACACACA others(17): Show CACACACACACGTACACACATGCAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01081.hp2 HG01123.hp1 others(44): Show HG01071.hp2 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01255.hp1 HG01261.hp2 HG01884.hp1 HG01934.hp1 HG02129.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03516.hp1 HG03579.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18971.hp1 NA18995.hp2 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA19074.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0020 a0027 a0031 a0037 a0038 a0039	a0001c0002 a0001c0003 a0001c0004 others(43): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0017 a0001c0026 a0001c0033 a0001c0039 a0001c0040 a0001c0045 a0001c0046 a0001c0047 a0001c0050 a0001c0085 a0002c0030 a0002c0031 a0002c0032 a0002c0048 a0002c0053 a0002c0054 a0002c0072 a0002c0074 a0002c0075 a0002c0076 a0002c0077 a0003c0014 a0003c0058 a0004c0087 a0005c0065 a0005c0107 a0008c0008 a0008c0067 a0010c0112 a0011c0110 a0012c0104 a0013c0027 a0014c0010 a0015c0062 a0016c0063 a0020c0024 a0027c0023 a0031c0069 a0037c0101 a0038c0066 a0039c0009	a0001c0002t0028 a0001c0003t0008 a0001c0003t0019 others(44): Show a0001c0002t0028 a0001c0003t0008 a0001c0003t0019 a0001c0004t0063 a0001c0006t0060 a0001c0007t0032 a0001c0017t0005 a0001c0026t0006 a0001c0033t0003 a0001c0039t0066 a0001c0040t0019 a0001c0045t0012 a0001c0046t0073 a0001c0047t0014 a0001c0050t0053 a0001c0085t0020 a0002c0030t0016 a0002c0031t0015 a0002c0032t0050 a0002c0048t0013 a0002c0053t0022 a0002c0054t0079 a0002c0072t0003 a0002c0074t0041 a0002c0075t0026 a0002c0076t0035 a0002c0077t0001 a0003c0014t0055 a0003c0058t0057 a0004c0087t0001 a0005c0065t0023 a0005c0107t0068 a0008c0008t0082 a0008c0067t0059 a0010c0112t0081 a0011c0110t0074 a0012c0104t0071 a0013c0027t0003 a0014c0010t0070 a0015c0062t0056 a0016c0063t0010 a0020c0024t0077 a0027c0023t0001 a0031c0069t0043 a0037c0101t0008 a0038c0066t0010 a0039c0009t0001	a0001c0002t0028g0005 a0001c0003t0008g0053 a0001c0003t0019g0107 others(44): Show a0001c0002t0028g0005 a0001c0003t0008g0053 a0001c0003t0019g0107 a0001c0004t0063g0095 a0001c0006t0060g0103 a0001c0007t0032g0033 a0001c0017t0005g0003 a0001c0026t0006g0093 a0001c0033t0003g0059 a0001c0039t0066g0080 a0001c0040t0019g0123 a0001c0045t0012g0010 a0001c0046t0073g0091 a0001c0047t0014g0024 a0001c0050t0053g0120 a0001c0085t0020g0060 a0002c0030t0016g0122 a0002c0031t0015g0001 a0002c0032t0050g0061 a0002c0048t0013g0015 a0002c0053t0022g0041 a0002c0054t0079g0096 a0002c0072t0003g0066 a0002c0074t0041g0031 a0002c0075t0026g0051 a0002c0076t0035g0014 a0002c0077t0001g0016 a0003c0014t0055g0056 a0003c0058t0057g0117 a0004c0087t0001g0022 a0005c0065t0023g0050 a0005c0107t0068g0073 a0008c0008t0082g0126 a0008c0067t0059g0079 a0010c0112t0081g0090 a0011c0110t0074g0082 a0012c0104t0071g0058 a0013c0027t0003g0099 a0014c0010t0070g0084 a0015c0062t0056g0062 a0016c0063t0010g0045 a0020c0024t0077g0104 a0027c0023t0001g0052 a0031c0069t0043g0100 a0037c0101t0008g0023 a0038c0066t0010g0032 a0039c0009t0001g0002	47	126	0.3730	24	c.134 others(45): Show c.1344+12529_1344+12530insATGCATGTGTGTACGTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3709680	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02129.hp1 HG02886.hp2 others(2): Show HG02055.hp1 HG02129.hp1 HG02886.hp2 HG03669.hp2 HG06807.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0103 a0002c0035 others(2): Show a0001c0001 a0001c0103 a0002c0035 a0002c0078 a0006c0083	a0001c0001t0039 a0001c0103t0033 a0002c0035t0047 others(2): Show a0001c0001t0039 a0001c0103t0033 a0002c0035t0047 a0002c0078t0044 a0006c0083t0004	a0001c0001t0039g0017 a0001c0103t0033g0028 a0002c0035t0047g0076 others(2): Show a0001c0001t0039g0017 a0001c0103t0033g0028 a0002c0035t0047g0076 a0002c0078t0044g0064 a0006c0083t0004g0006	5	126	0.0397	24	c.932 others(41): Show c.932-1213_932-1190dupAAAAAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3776807	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03579.hp1 HG03540.hp2 HG03579.hp1	a0006 a0009 a0006 a0009	a0006c0116 a0009c0113 a0006c0116 a0009c0113	a0006c0116t0004 a0009c0113t0011 a0006c0116t0004 a0009c0113t0011	a0006c0116t0004g0039 a0009c0113t0011g0043 a0006c0116t0004g0039 a0009c0113t0011g0043	2	126	0.0159	24	c.819 others(43): Show c.819-22766_819-22765insATATATATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3893339	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG01123.hp1 others(8): Show HG00099.hp1 HG00423.hp1 HG01123.hp1 HG01123.hp2 HG02647.hp2 HG02922.hp1 HG03130.hp1 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03834.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0008 a0015 a0020 a0025 a0028	a0001c0003 a0001c0006 a0001c0026 others(8): Show a0001c0003 a0001c0006 a0001c0026 a0002c0084 a0003c0014 a0004c0087 a0008c0008 a0015c0062 a0020c0024 a0025c0096 a0028c0097	a0001c0003t0008 a0001c0006t0002 a0001c0026t0006 others(8): Show a0001c0003t0008 a0001c0006t0002 a0001c0026t0006 a0002c0084t0018 a0003c0014t0055 a0004c0087t0001 a0008c0008t0082 a0015c0062t0056 a0020c0024t0077 a0025c0096t0067 a0028c0097t0018	a0001c0003t0008g0053 a0001c0006t0002g0109 a0001c0026t0006g0093 others(8): Show a0001c0003t0008g0053 a0001c0006t0002g0109 a0001c0026t0006g0093 a0002c0084t0018g0087 a0003c0014t0055g0056 a0004c0087t0001g0022 a0008c0008t0082g0126 a0015c0062t0056g0062 a0020c0024t0077g0104 a0025c0096t0067g0116 a0028c0097t0018g0089	11	126	0.0873	24	c.818 others(45): Show c.818+104563_818+104564insTATATATATATATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4258401	G G	GGGAGGGA others(17): Show GGGAGGGAGGGAGGGGAGGATGGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00735.hp1 others(25): Show HG00099.hp1 HG00423.hp2 HG00735.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01261.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02683.hp1 HG03209.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18971.hp2 NA18982.hp1 NA19043.hp2 NA19074.hp1 NA20129.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0007 a0014 a0016 a0019 a0021 a0023 a0028 a0032	a0001c0001 a0001c0003 a0001c0006 others(23): Show a0001c0001 a0001c0003 a0001c0006 a0001c0020 a0001c0021 a0001c0047 a0001c0050 a0001c0071 a0002c0012 a0002c0051 a0002c0053 a0002c0076 a0002c0089 a0002c0091 a0003c0057 a0004c0056 a0004c0086 a0004c0087 a0007c0088 a0014c0010 a0016c0063 a0019c0018 a0021c0016 a0023c0095 a0028c0097 a0032c0011	a0001c0001t0002 a0001c0001t0039 a0001c0003t0008 others(24): Show a0001c0001t0002 a0001c0001t0039 a0001c0003t0008 a0001c0006t0002 a0001c0020t0016 a0001c0021t0005 a0001c0047t0014 a0001c0050t0053 a0001c0071t0069 a0002c0012t0017 a0002c0051t0006 a0002c0053t0022 a0002c0076t0035 a0002c0089t0001 a0002c0091t0002 a0003c0057t0080 a0004c0056t0062 a0004c0086t0002 a0004c0087t0001 a0007c0088t0076 a0014c0010t0070 a0016c0063t0010 a0019c0018t0058 a0021c0016t0048 a0023c0095t0002 a0028c0097t0018 a0032c0011t0065	a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 others(25): Show a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 a0001c0003t0008g0053 a0001c0006t0002g0109 a0001c0020t0016g0065 a0001c0021t0005g0012 a0001c0047t0014g0024 a0001c0050t0053g0120 a0001c0071t0069g0115 a0002c0012t0017g0088 a0002c0051t0006g0081 a0002c0053t0022g0041 a0002c0076t0035g0014 a0002c0089t0001g0037 a0002c0091t0002g0114 a0003c0057t0080g0075 a0004c0056t0062g0072 a0004c0086t0002g0118 a0004c0087t0001g0022 a0007c0088t0076g0057 a0014c0010t0070g0084 a0016c0063t0010g0045 a0019c0018t0058g0068 a0021c0016t0048g0106 a0023c0095t0002g0124 a0028c0097t0018g0089 a0032c0011t0065g0101	28	126	0.2222	24	c.415 others(45): Show c.415+161551_415+161552insTTCCATCCTCCCCTCCCTCCCTCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4258405	G G	GGGAGGGA others(17): Show GGGAGGGAGGGGAGGATGGAAGGAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0015 a0002c0031t0015	a0002c0031t0015g0001 a0002c0031t0015g0001	1	126	0.0079	24	c.415 others(45): Show c.415+161547_415+161548insGTCCTTCCATCCTCCCCTCCCTCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4312427	A A	ATATATAT others(17): Show ATATATATATGCGTATATATATACG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0051 a0002c0051	a0002c0051t0006 a0002c0051t0006	a0002c0051t0006g0081 a0002c0051t0006g0081	1	126	0.0079	24	c.415 others(45): Show c.415+107502_415+107525dupCGTATATATATACGCATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4312467	A A	ATATATAT others(17): Show ATATATATACGTATATATATGCGCG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02965.hp2 others(4): Show HG02257.hp1 HG02559.hp2 HG02965.hp2 HG03139.hp1 NA18522.hp2 NA18906.hp1 NA19240.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0038	a0001c0043 a0001c0085 a0002c0032 others(4): Show a0001c0043 a0001c0085 a0002c0032 a0002c0072 a0002c0074 a0007c0088 a0038c0066	a0001c0043t0031 a0001c0085t0020 a0002c0032t0050 others(4): Show a0001c0043t0031 a0001c0085t0020 a0002c0032t0050 a0002c0072t0003 a0002c0074t0041 a0007c0088t0076 a0038c0066t0010	a0001c0043t0031g0044 a0001c0085t0020g0060 a0002c0032t0050g0061 others(4): Show a0001c0043t0031g0044 a0001c0085t0020g0060 a0002c0032t0050g0061 a0002c0072t0003g0066 a0002c0074t0041g0031 a0007c0088t0076g0057 a0038c0066t0010g0032	7	126	0.0556	24	c.415 others(45): Show c.415+107485_415+107486insCGCGCATATATATACGTATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4390497	T T	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01934.hp1 HG01081.hp2 HG01934.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0107 a0001c0003 a0005c0107	a0001c0003t0019 a0005c0107t0068 a0001c0003t0019 a0005c0107t0068	a0001c0003t0019g0107 a0005c0107t0068g0073 a0001c0003t0019g0107 a0005c0107t0068g0073	2	126	0.0159	24	c.415 others(43): Show c.415+29432_415+29455dupTAAATAAATAAATAAATAAATAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4390497	T T	TTTTTTTT others(17): Show TTTTTTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0080 a0001c0080	a0001c0080t0040 a0001c0080t0040	a0001c0080t0040g0025 a0001c0080t0040g0025	1	126	0.0079	24	c.415 others(43): Show c.415+29455_415+29456insTAAATAAATAAATAAATAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4441095	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03130.hp2 NA18983.hp1 HG02056.hp1 HG03130.hp2 NA18983.hp1	a0001 a0018 a0001 a0018	a0001c0002 a0001c0061 a0018c0044 a0001c0002 a0001c0061 a0018c0044	a0001c0002t0002 a0001c0061t0001 a0018c0044t0064 a0001c0002t0002 a0001c0061t0001 a0018c0044t0064	a0001c0002t0002g0083 a0001c0061t0001g0021 a0018c0044t0064g0085 a0001c0002t0002g0083 a0001c0061t0001g0021 a0018c0044t0064g0085	3	126	0.0238	24	c.303 others(43): Show c.303-21031_303-21030insAAAAAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4717310	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp1 HG03209.hp2 others(1): Show HG02451.hp1 HG03195.hp1 HG03209.hp2 HG03516.hp2	a0002 a0017 a0002 a0017	a0002c0051 a0002c0054 a0002c0060 others(1): Show a0002c0051 a0002c0054 a0002c0060 a0017c0106	a0002c0051t0006 a0002c0054t0079 a0002c0060t0006 others(1): Show a0002c0051t0006 a0002c0054t0079 a0002c0060t0006 a0017c0106t0012	a0002c0051t0006g0081 a0002c0054t0079g0096 a0002c0060t0006g0094 others(1): Show a0002c0051t0006g0081 a0002c0054t0079g0096 a0002c0060t0006g0094 a0017c0106t0012g0042	4	126	0.0318	24	c.86- others(41): Show c.86-79753_86-79752insATATATATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4738903	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0012 a0012	a0012c0104 a0012c0104	a0012c0104t0071 a0012c0104t0071	a0012c0104t0071g0058 a0012c0104t0071g0058	1	126	0.0079	24	c.86- others(43): Show c.86-101346_86-101345insCACACACACACACACACACACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4764885	A A	AACAAAAA others(17): Show AACAAAAAAAAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG04204.hp1 HG02129.hp2 HG04204.hp1	a0001 a0034 a0001 a0034	a0001c0007 a0034c0055 a0001c0007 a0034c0055	a0001c0007t0032 a0034c0055t0034 a0001c0007t0032 a0034c0055t0034	a0001c0007t0032g0033 a0034c0055t0034g0047 a0001c0007t0032g0033 a0034c0055t0034g0047	2	126	0.0159	24	c.86- others(43): Show c.86-127328_86-127327insGTTTTGTTTTGTTTTTTTTTTTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4993389	T T	TCTGTCTC others(17): Show TCTGTCTCTCTCCCTCTTTCTCGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01074.hp2 others(9): Show HG00099.hp2 HG00735.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01934.hp1 HG02055.hp2 HG03017.hp1 HG06807.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0016 a0019 a0021	a0001c0002 a0001c0003 a0001c0005 others(9): Show a0001c0002 a0001c0003 a0001c0005 a0001c0049 a0001c0108 a0002c0035 a0003c0057 a0004c0056 a0005c0107 a0016c0063 a0019c0018 a0021c0016	a0001c0002t0061 a0001c0003t0019 a0001c0005t0007 others(9): Show a0001c0002t0061 a0001c0003t0019 a0001c0005t0007 a0001c0049t0002 a0001c0108t0054 a0002c0035t0047 a0003c0057t0080 a0004c0056t0062 a0005c0107t0068 a0016c0063t0010 a0019c0018t0058 a0021c0016t0048	a0001c0002t0061g0069 a0001c0003t0019g0107 a0001c0005t0007g0070 others(9): Show a0001c0002t0061g0069 a0001c0003t0019g0107 a0001c0005t0007g0070 a0001c0049t0002g0071 a0001c0108t0054g0074 a0002c0035t0047g0076 a0003c0057t0080g0075 a0004c0056t0062g0072 a0005c0107t0068g0073 a0016c0063t0010g0045 a0019c0018t0058g0068 a0021c0016t0048g0106	12	126	0.0952	24	c.85+ others(37): Show c.85+919_85+942dupGGCGAGAAAGAGGGAGAGAGACAG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD2_chr1_33508998_34170230	33708591	C C	CTTATTAT others(17): Show CTTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03139.hp1 NA19043.hp2 HG02055.hp2 HG03139.hp1 NA19043.hp2	a0003 a0005 a0006 a0003 a0005 a0006	a0003c0050 a0005c0012 a0006c0016 a0003c0050 a0005c0012 a0006c0016	a0003c0050t0004 a0005c0012t0001 a0006c0016t0004 a0003c0050t0004 a0005c0012t0001 a0006c0016t0004	a0003c0050t0004g0037 a0005c0012t0001g0003 a0006c0016t0004g0034 a0003c0050t0004g0037 a0005c0012t0001g0003 a0006c0016t0004g0034	3	66	0.0455	24	c.357 others(41): Show c.3576+474_3576+497dupTAATAATAATAATAATAATAATAA	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	22/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	34076928	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0027 a0027	a0027c0018 a0027c0018	a0027c0018t0001 a0027c0018t0001	a0027c0018t0001g0048 a0027c0018t0001g0048	1	66	0.0152	24	c.404 others(43): Show c.404+12048_404+12049insATATTTTTTTTTTTTTTTTTTTTT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	2/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	34076928	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0017 a0017	a0017c0052 a0017c0052	a0017c0052t0003 a0017c0052t0003	a0017c0052t0003g0040 a0017c0052t0003g0040	1	66	0.0152	24	c.404 others(43): Show c.404+12048_404+12049insATATATATTTTTTTTTTTTTTTTT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	2/70			chr1	TogoVar
CSMD3_chr8_112217928_113441939	112370082	A A	AAGAAGAA others(17): Show AAGAAGAAGAAGAAGAAGAAGAAGT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	80	0.0125	24	c.613 others(45): Show c.6136+10269_6136+10270insACTTCTTCTTCTTCTTCTTCTTCT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	38/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112405234	T T	TATGTATA others(17): Show TATGTATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA20300.hp2 HG02055.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0023 a0002c0032 a0001c0023 a0002c0032	a0001c0023t0001 a0002c0032t0001 a0001c0023t0001 a0002c0032t0001	a0001c0023t0001g0056 a0002c0032t0001g0079 a0001c0023t0001g0056 a0002c0032t0001g0079	2	80	0.0250	24	c.580 others(43): Show c.5809+1289_5809+1290insGTATATATATATATATATATACAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	35/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112564339	C C	CTTCTCCC others(17): Show CTTCTCCCCTCCCTTCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03516.hp1 HG03225.hp1 HG03516.hp1	a0008 a0013 a0008 a0013	a0008c0014 a0013c0026 a0008c0014 a0013c0026	a0008c0014t0005 a0013c0026t0001 a0008c0014t0005 a0013c0026t0001	a0008c0014t0005g0040 a0013c0026t0001g0057 a0008c0014t0005g0040 a0013c0026t0001g0057	2	80	0.0250	24	c.404 others(43): Show c.4043-7386_4043-7385insAGGAGGGGAGAAGGGAGGGGAGAA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	24/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112783412	A A	AGGAGGGA others(17): Show AGGAGGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18990.hp1 HG00673.hp1 NA18990.hp1	a0001 a0001	a0001c0006 a0001c0016 a0001c0006 a0001c0016	a0001c0006t0003 a0001c0016t0001 a0001c0006t0003 a0001c0016t0001	a0001c0006t0003g0074 a0001c0016t0001g0073 a0001c0006t0003g0074 a0001c0016t0001g0073	2	80	0.0250	24	c.197 others(45): Show c.1972+16749_1972+16750insCTCCCTCCCTCCCTCCCTCCCTCC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	13/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112783424	G G	GGGAGGGA others(17): Show GGGAGGGAGGGAGGGAGGGAGGGAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0005 a0008c0014t0005	a0008c0014t0005g0040 a0008c0014t0005g0040	1	80	0.0125	24	c.197 others(45): Show c.1972+16737_1972+16738insTTCCCTCCCTCCCTCCCTCCCTCC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	13/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113315628	A A	AATATATA others(17): Show AATATATATCAAATGTATATTAAAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03225.hp2 HG03688.hp2 others(3): Show HG01109.hp1 HG03225.hp2 HG03688.hp2 HG04115.hp2 NA18944.hp1 NA19240.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0007 a0001c0021 others(2): Show a0001c0001 a0001c0007 a0001c0021 a0002c0003 a0007c0009	a0001c0001t0002 a0001c0007t0001 a0001c0021t0004 others(3): Show a0001c0001t0002 a0001c0007t0001 a0001c0021t0004 a0002c0003t0002 a0002c0003t0006 a0007c0009t0001	a0001c0001t0002g0014 a0001c0007t0001g0012 a0001c0021t0004g0037 others(3): Show a0001c0001t0002g0014 a0001c0007t0001g0012 a0001c0021t0004g0037 a0002c0003t0002g0051 a0002c0003t0006g0061 a0007c0009t0001g0069	6	80	0.0750	24	c.179 others(39): Show c.179-859_179-836dupATTTAATATACATTTGATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	1/70			chr8	TogoVar

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