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	19599472	A A	AAAAGAAA others(7): Show AAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp2 HG01192.hp1 others(12): Show HG00597.hp1 HG00673.hp2 HG01192.hp1 HG02523.hp2 HG02622.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02965.hp1 HG03209.hp1 HG03834.hp2 NA18906.hp2 NA19054.hp2 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0002c0004 a0003c0005 a0004c0009	a0001c0001t0010 a0001c0002t0005 a0001c0002t0006 others(9): Show a0001c0001t0010 a0001c0002t0005 a0001c0002t0006 a0001c0002t0012 a0001c0007t0039 a0002c0003t0003 a0002c0003t0011 a0002c0003t0045 a0002c0004t0003 a0002c0004t0012 a0003c0005t0004 a0004c0009t0003	a0001c0001t0010g0088 a0001c0001t0010g0122 a0001c0002t0005g0050 others(12): Show a0001c0001t0010g0088 a0001c0001t0010g0122 a0001c0002t0005g0050 a0001c0002t0005g0075 a0001c0002t0006g0017 a0001c0002t0012g0175 a0001c0007t0039g0041 a0002c0003t0003g0127 a0002c0003t0011g0092 a0002c0003t0045g0090 a0002c0004t0003g0020 a0002c0004t0012g0200 a0003c0005t0004g0094 a0003c0005t0004g0184 a0004c0009t0003g0107	15	238	0.0630	14	c.-29 others(33): Show c.-297+2298_-297+2299insCTTTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19599472	A A	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0021 a0001c0007t0021	a0001c0007t0021g0030 a0001c0007t0021g0030	1	238	0.0042	14	c.-29 others(33): Show c.-297+2298_-297+2299insCTTTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19649818	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0032 a0001c0002t0014g0032	1	238	0.0042	14	c.-39 others(35): Show c.-391-47954_-391-47953insTTTTTTTTTTTTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19649819	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01978.hp1 HG00140.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0032 a0001c0001t0006 a0001c0002t0032	a0001c0001t0006g0028 a0001c0002t0032g0227 a0001c0001t0006g0028 a0001c0002t0032g0227	2	238	0.0084	14	c.-39 others(35): Show c.-391-47968_-391-47955dupTTTTTTTTTTTTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19655542	C C	CTATATGC others(7): Show CTATATGCACACATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01106.hp1 HG01261.hp1 others(8): Show HG00642.hp2 HG01106.hp1 HG01261.hp1 HG02258.hp2 HG02280.hp1 HG02698.hp2 HG02965.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0012c0021	a0001c0001t0001 a0001c0001t0014 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0014 a0001c0002t0002 a0001c0002t0006 a0001c0002t0022 a0002c0003t0003 a0002c0003t0005 a0012c0021t0040	a0001c0001t0001g0083 a0001c0001t0014g0058 a0001c0002t0002g0084 others(8): Show a0001c0001t0001g0083 a0001c0001t0014g0058 a0001c0002t0002g0084 a0001c0002t0002g0132 a0001c0002t0002g0236 a0001c0002t0006g0017 a0001c0002t0022g0079 a0002c0003t0003g0203 a0002c0003t0005g0018 a0002c0003t0005g0190 a0012c0021t0040g0178	11	238	0.0462	14	c.-39 others(35): Show c.-391-53678_-391-53677insTATGTGTGCATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666809	A A	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	238	0.0042	14	c.-39 others(35): Show c.-391-64945_-391-64944insCTTTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666811	G G	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18992.hp1 HG01243.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0222 a0001c0001t0001g0154 a0001c0001t0001g0222	2	238	0.0084	14	c.-39 others(35): Show c.-391-64947_-391-64946insTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19755456	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	238	0.0042	14	c.-39 others(33): Show c.-392+1716_-392+1729dupTTTTTTTTTTTTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT2_chr10_43133445_43190302	43146963	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	398	0.0025	14	c.-25 others(33): Show c.-253-7921_-253-7908dupTTTTTTTTTTTTTT	CSGALNACT2	ENSG00000169826.8	transcript	ENST00000374466.4	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CSGALNACT2_chr10_43133445_43190302	43153334	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03130.hp1 HG03239.hp1 HG01192.hp2 HG03130.hp1 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0283 a0001c0003t0008g0284 a0001c0003t0008g0285 a0001c0003t0008g0283 a0001c0003t0008g0284 a0001c0003t0008g0285	3	398	0.0075	14	c.-25 others(33): Show c.-253-1553_-253-1552insAAAAAAAAAAAAAA	CSGALNACT2	ENSG00000169826.8	transcript	ENST00000374466.4	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CSGALNACT2_chr10_43133445_43190302	43171129	T T	TAATAGTT others(7): Show TAATAGTTGCAATGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0276 a0001c0001t0011g0276	1	398	0.0025	14	c.125 others(33): Show c.1254+4031_1254+4032insAATAGTTGCAATGA	CSGALNACT2	ENSG00000169826.8	transcript	ENST00000374466.4	protein_coding	6/7			chr10	TogoVar
CSH1_chr17_63889918_63901574	63898144	T T	TTCTTTCT others(7): Show TTCTTTCTTTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 NA18612.hp1 HG03688.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	428	0.0047	14	c.-16 others(25): Show c.-1634_-1633insGAGAGAAAGAAAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1571		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898156	C C	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	14	c.-16 others(25): Show c.-1646_-1645insAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1583		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898168	C C	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0010 a0002c0003t0001g0010	1	428	0.0023	14	c.-16 others(25): Show c.-1658_-1657insAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1595		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898172	C C	CTCTCTTT others(7): Show CTCTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02970.hp1 HG03209.hp1 HG02622.hp2 HG02970.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0008 a0002c0003t0001g0003 a0001c0001t0001g0008 a0002c0003t0001g0003	3	428	0.0070	14	c.-16 others(25): Show c.-1662_-1661insAAGAAAGAAAGAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1599		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898172	C C	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	428	0.0023	14	c.-16 others(25): Show c.-1662_-1661insAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1599		chr17	TogoVar
CSMD1_chr8_2930361_4999914	2960939	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03710.hp2 NA18982.hp1 HG03579.hp2 HG03710.hp2 NA18982.hp1	a0004 a0020 a0022 a0004 a0020 a0022	a0004c0086 a0020c0024 a0022c0013 a0004c0086 a0020c0024 a0022c0013	a0004c0086t0002 a0020c0024t0077 a0022c0013t0007 a0004c0086t0002 a0020c0024t0077 a0022c0013t0007	a0004c0086t0002g0118 a0020c0024t0077g0104 a0022c0013t0007g0112 a0004c0086t0002g0118 a0020c0024t0077g0104 a0022c0013t0007g0112	3	126	0.0238	14	c.970 others(31): Show c.9702+188_9702+201dupATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	62/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	2960961	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0066 a0001c0039t0066	a0001c0039t0066g0080 a0001c0039t0066g0080	1	126	0.0079	14	c.970 others(31): Show c.9702+179_9702+180insGTATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	62/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	2994145	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02280.hp2 HG01261.hp2 HG02280.hp2	a0003 a0016 a0003 a0016	a0003c0034 a0016c0063 a0003c0034 a0016c0063	a0003c0034t0030 a0016c0063t0010 a0003c0034t0030 a0016c0063t0010	a0003c0034t0030g0038 a0016c0063t0010g0045 a0003c0034t0030g0038 a0016c0063t0010g0045	2	126	0.0159	14	c.837 others(33): Show c.8377+3852_8377+3865dupTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	54/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3083608	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0061 a0001c0002t0061	a0001c0002t0061g0069 a0001c0002t0061g0069	1	126	0.0079	14	c.747 others(33): Show c.7474+3488_7474+3489insTATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	49/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3083610	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0021 a0002c0015t0021	a0002c0015t0021g0008 a0002c0015t0021g0008	1	126	0.0079	14	c.747 others(33): Show c.7474+3473_7474+3486dupTATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	49/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3145045	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02559.hp1 others(12): Show HG01884.hp2 HG02055.hp1 HG02559.hp1 HG02622.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp2 NA18522.hp2	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0009 a0010 a0011 a0017	a0001c0001 a0001c0002 a0001c0004 others(12): Show a0001c0001 a0001c0002 a0001c0004 a0001c0020 a0001c0026 a0002c0022 a0002c0054 a0002c0072 a0002c0074 a0006c0083 a0006c0116 a0009c0113 a0010c0112 a0011c0110 a0017c0106	a0001c0001t0039 a0001c0002t0028 a0001c0004t0020 others(12): Show a0001c0001t0039 a0001c0002t0028 a0001c0004t0020 a0001c0020t0016 a0001c0026t0006 a0002c0022t0036 a0002c0054t0079 a0002c0072t0003 a0002c0074t0041 a0006c0083t0004 a0006c0116t0004 a0009c0113t0011 a0010c0112t0081 a0011c0110t0074 a0017c0106t0012	a0001c0001t0039g0017 a0001c0002t0028g0005 a0001c0004t0020g0086 others(12): Show a0001c0001t0039g0017 a0001c0002t0028g0005 a0001c0004t0020g0086 a0001c0020t0016g0065 a0001c0026t0006g0093 a0002c0022t0036g0048 a0002c0054t0079g0096 a0002c0072t0003g0066 a0002c0074t0041g0031 a0006c0083t0004g0006 a0006c0116t0004g0039 a0009c0113t0011g0043 a0010c0112t0081g0090 a0011c0110t0074g0082 a0017c0106t0012g0042	15	126	0.1191	14	c.603 others(33): Show c.6032-2372_6032-2371insGACACACACACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	40/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3155359	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02257.hp1 HG02280.hp1 others(3): Show HG01255.hp1 HG02257.hp1 HG02280.hp1 HG02886.hp2 NA18522.hp1 NA20129.hp1	a0002 a0007 a0014 others(1): Show a0002 a0007 a0014 a0027	a0002c0031 a0002c0053 a0002c0078 others(3): Show a0002c0031 a0002c0053 a0002c0078 a0007c0088 a0014c0010 a0027c0023	a0002c0031t0015 a0002c0053t0022 a0002c0078t0044 others(3): Show a0002c0031t0015 a0002c0053t0022 a0002c0078t0044 a0007c0088t0076 a0014c0010t0070 a0027c0023t0001	a0002c0031t0015g0001 a0002c0053t0022g0041 a0002c0078t0044g0064 others(3): Show a0002c0031t0015g0001 a0002c0053t0022g0041 a0002c0078t0044g0064 a0007c0088t0076g0057 a0014c0010t0070g0084 a0027c0023t0001g0052	6	126	0.0476	14	c.591 others(33): Show c.5914+2524_5914+2537dupAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	39/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3168631	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0085 a0001c0085	a0001c0085t0020 a0001c0085t0020	a0001c0085t0020g0060 a0001c0085t0020g0060	1	126	0.0079	14	c.572 others(33): Show c.5726-6368_5726-6355dupTGTGTGTGTGTGTG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	37/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182675	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0058 a0003c0058	a0003c0058t0057 a0003c0058t0057	a0003c0058t0057g0117 a0003c0058t0057g0117	1	126	0.0079	14	c.562 others(33): Show c.5621-1475_5621-1462dupCACACACACACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGGGTGTG others(7): Show GGGGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0074 a0002c0074	a0002c0074t0041 a0002c0074t0041	a0002c0074t0041g0031 a0002c0074t0041g0031	1	126	0.0079	14	c.562 others(33): Show c.5621-1628_5621-1627insACACACACACACCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0004 a0004	a0004c0087 a0004c0087	a0004c0087t0001 a0004c0087t0001	a0004c0087t0001g0022 a0004c0087t0001g0022	1	126	0.0079	14	c.562 others(33): Show c.5621-1641_5621-1628dupACACACACACACAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3235916	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0025 a0025	a0025c0096 a0025c0096	a0025c0096t0067 a0025c0096t0067	a0025c0096t0067g0116 a0025c0096t0067g0116	1	126	0.0079	14	c.415 others(33): Show c.4154-5699_4154-5686dupAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	26/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3315437	A A	AGTATGTG others(7): Show AGTATGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01071.hp1 HG01081.hp1 others(8): Show HG00735.hp1 HG01071.hp1 HG01081.hp1 HG02257.hp1 HG02572.hp1 HG02622.hp2 HG02886.hp2 HG03130.hp2 HG03195.hp2 HG04228.hp1 NA18522.hp2	a0001 a0002 a0007 others(6): Show a0001 a0002 a0007 a0010 a0013 a0018 a0019 a0021 a0033	a0001c0001 a0002c0041 a0002c0072 others(8): Show a0001c0001 a0002c0041 a0002c0072 a0002c0078 a0007c0088 a0010c0112 a0013c0027 a0018c0044 a0019c0018 a0021c0016 a0033c0042	a0001c0001t0002 a0002c0041t0027 a0002c0072t0003 others(8): Show a0001c0001t0002 a0002c0041t0027 a0002c0072t0003 a0002c0078t0044 a0007c0088t0076 a0010c0112t0081 a0013c0027t0003 a0018c0044t0064 a0019c0018t0058 a0021c0016t0048 a0033c0042t0004	a0001c0001t0002g0125 a0002c0041t0027g0018 a0002c0072t0003g0066 others(8): Show a0001c0001t0002g0125 a0002c0041t0027g0018 a0002c0072t0003g0066 a0002c0078t0044g0064 a0007c0088t0076g0057 a0010c0112t0081g0090 a0013c0027t0003g0099 a0018c0044t0064g0085 a0019c0018t0058g0068 a0021c0016t0048g0106 a0033c0042t0004g0004	11	126	0.0873	14	c.363 others(33): Show c.3632-6935_3632-6934insACACACACACATAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	23/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411680	A A	ATACGTAT others(7): Show ATACGTATATATACG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0009 a0002c0037t0009	a0002c0037t0009g0046 a0002c0037t0009g0046	1	126	0.0079	14	c.156 others(33): Show c.1562-2076_1562-2075insCGTATATATACGTA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411762	G G	GTGTATAT others(7): Show GTGTATATATACGTA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03098.hp1 NA18995.hp1 HG02280.hp2 HG03098.hp1 NA18995.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0109 a0003c0034 a0001c0002 a0001c0109 a0003c0034	a0001c0002t0028 a0001c0109t0038 a0003c0034t0030 a0001c0002t0028 a0001c0109t0038 a0003c0034t0030	a0001c0002t0028g0005 a0001c0109t0038g0013 a0003c0034t0030g0038 a0001c0002t0028g0005 a0001c0109t0038g0013 a0003c0034t0030g0038	3	126	0.0238	14	c.156 others(33): Show c.1562-2158_1562-2157insTACGTATATATACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3412199	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03139.hp2 HG02572.hp2 HG03139.hp2	a0001 a0007 a0001 a0007	a0001c0033 a0007c0029 a0001c0033 a0007c0029	a0001c0033t0003 a0007c0029t0011 a0001c0033t0003 a0007c0029t0011	a0001c0033t0003g0059 a0007c0029t0011g0054 a0001c0033t0003g0059 a0007c0029t0011g0054	2	126	0.0159	14	c.156 others(33): Show c.1562-2608_1562-2595dupGTGTGTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439122	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0060 a0002c0060	a0002c0060t0006 a0002c0060t0006	a0002c0060t0006g0094 a0002c0060t0006g0094	1	126	0.0079	14	c.156 others(35): Show c.1562-29531_1562-29518dupTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439281	G G	GTGTGTAT others(7): Show GTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0074 a0002c0074	a0002c0074t0041 a0002c0074t0041	a0002c0074t0041g0031 a0002c0074t0041g0031	1	126	0.0079	14	c.156 others(35): Show c.1561+29430_1561+29431insTATATATATACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439309	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0017 a0002c0012t0017	a0002c0012t0017g0088 a0002c0012t0017g0088	1	126	0.0079	14	c.156 others(35): Show c.1561+29402_1561+29403insAATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439309	A A	ATATATAT others(7): Show ATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18984.hp1 HG03209.hp1 NA18984.hp1	a0001 a0001	a0001c0020 a0001c0059 a0001c0020 a0001c0059	a0001c0020t0016 a0001c0059t0001 a0001c0020t0016 a0001c0059t0001	a0001c0020t0016g0065 a0001c0059t0001g0036 a0001c0020t0016g0065 a0001c0059t0001g0036	2	126	0.0159	14	c.156 others(35): Show c.1561+29402_1561+29403insAAAATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3456303	G G	GCTGCACC others(7): Show GCTGCACCCACTCTC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0111 a0001c0005t0002g0111	1	126	0.0079	14	c.156 others(35): Show c.1561+12408_1561+12409insGAGAGTGGGTGCAG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3456318	C C	CTGCACCC others(7): Show CTGCACCCACTGTCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00423.hp2 others(105): Show HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00735.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18971.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18995.hp1 NA18995.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19074.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(31): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0030 a0031 a0033 a0035 a0036 a0038 a0039	a0001c0001 a0001c0002 a0001c0004 others(99): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0019 a0001c0020 a0001c0021 a0001c0025 a0001c0026 a0001c0033 a0001c0039 a0001c0040 a0001c0043 a0001c0045 a0001c0046 a0001c0047 a0001c0049 a0001c0050 a0001c0059 a0001c0061 a0001c0068 a0001c0071 a0001c0079 a0001c0081 a0001c0085 a0001c0090 a0001c0093 a0001c0094 a0001c0102 a0001c0105 a0001c0108 a0001c0109 a0001c0111 a0001c0115 a0002c0012 a0002c0015 a0002c0022 a0002c0030 a0002c0031 a0002c0032 a0002c0035 a0002c0036 a0002c0037 a0002c0041 a0002c0048 a0002c0051 a0002c0053 a0002c0054 a0002c0060 a0002c0070 a0002c0072 a0002c0074 a0002c0075 a0002c0078 a0002c0084 a0002c0089 a0002c0091 a0002c0092 a0003c0014 a0003c0034 a0003c0057 a0003c0058 a0004c0056 a0004c0087 a0004c0099 a0005c0064 a0005c0065 a0005c0107 a0006c0083 a0006c0116 a0007c0029 a0007c0088 a0008c0008 a0008c0067 a0009c0113 a0010c0112 a0011c0110 a0012c0104 a0013c0027 a0014c0010 a0015c0062 a0016c0063 a0017c0106 a0018c0044 a0019c0018 a0020c0024 a0021c0016 a0022c0013 a0023c0095 a0024c0038 a0025c0096 a0026c0082 a0027c0023 a0030c0052 a0031c0069 a0033c0042 a0035c0098 a0036c0100 a0038c0066 a0039c0009	a0001c0001t0002 a0001c0001t0039 a0001c0002t0002 others(104): Show a0001c0001t0002 a0001c0001t0039 a0001c0002t0002 a0001c0002t0028 a0001c0002t0061 a0001c0004t0020 a0001c0004t0063 a0001c0005t0007 a0001c0006t0002 a0001c0007t0001 a0001c0007t0032 a0001c0019t0078 a0001c0020t0016 a0001c0021t0005 a0001c0025t0003 a0001c0026t0006 a0001c0033t0003 a0001c0039t0066 a0001c0040t0019 a0001c0043t0031 a0001c0045t0012 a0001c0046t0073 a0001c0047t0014 a0001c0049t0002 a0001c0050t0053 a0001c0059t0001 a0001c0061t0001 a0001c0068t0015 a0001c0071t0069 a0001c0079t0072 a0001c0081t0037 a0001c0085t0020 a0001c0090t0001 a0001c0093t0009 a0001c0094t0002 a0001c0102t0005 a0001c0105t0001 a0001c0108t0054 a0001c0109t0038 a0001c0111t0045 a0001c0115t0042 a0002c0012t0017 a0002c0015t0021 a0002c0022t0036 a0002c0030t0016 a0002c0031t0015 a0002c0032t0050 a0002c0035t0047 a0002c0036t0029 a0002c0037t0009 a0002c0041t0027 a0002c0048t0013 a0002c0051t0006 a0002c0053t0022 a0002c0054t0079 a0002c0060t0006 a0002c0070t0046 a0002c0072t0003 a0002c0074t0041 a0002c0075t0026 a0002c0078t0044 a0002c0084t0018 a0002c0089t0001 a0002c0091t0002 a0002c0092t0001 a0003c0014t0055 a0003c0034t0030 a0003c0057t0080 a0003c0058t0057 a0004c0056t0062 a0004c0087t0001 a0004c0099t0014 a0005c0064t0051 a0005c0065t0023 a0005c0107t0068 a0006c0083t0004 a0006c0116t0004 a0007c0029t0011 a0007c0088t0076 a0008c0008t0082 a0008c0067t0059 a0009c0113t0011 a0010c0112t0081 a0011c0110t0074 a0012c0104t0071 a0013c0027t0003 a0014c0010t0070 a0015c0062t0056 a0016c0063t0010 a0017c0106t0012 a0018c0044t0064 a0019c0018t0058 a0020c0024t0077 a0021c0016t0048 a0022c0013t0007 a0023c0095t0002 a0024c0038t0075 a0025c0096t0067 a0026c0082t0052 a0027c0023t0001 a0030c0052t0049 a0031c0069t0043 a0033c0042t0004 a0035c0098t0025 a0036c0100t0017 a0038c0066t0010 a0039c0009t0001	a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 others(105): Show a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 a0001c0002t0002g0083 a0001c0002t0028g0005 a0001c0002t0061g0069 a0001c0004t0020g0086 a0001c0004t0063g0095 a0001c0005t0007g0070 a0001c0006t0002g0109 a0001c0007t0001g0035 a0001c0007t0032g0033 a0001c0019t0078g0105 a0001c0020t0016g0065 a0001c0021t0005g0012 a0001c0025t0003g0077 a0001c0026t0006g0093 a0001c0033t0003g0059 a0001c0039t0066g0080 a0001c0040t0019g0123 a0001c0043t0031g0044 a0001c0045t0012g0010 a0001c0046t0073g0091 a0001c0047t0014g0024 a0001c0049t0002g0071 a0001c0050t0053g0120 a0001c0059t0001g0036 a0001c0061t0001g0021 a0001c0068t0015g0049 a0001c0071t0069g0115 a0001c0079t0072g0113 a0001c0081t0037g0030 a0001c0085t0020g0060 a0001c0090t0001g0027 a0001c0093t0009g0007 a0001c0094t0002g0110 a0001c0102t0005g0034 a0001c0105t0001g0029 a0001c0108t0054g0074 a0001c0109t0038g0013 a0001c0111t0045g0063 a0001c0115t0042g0055 a0002c0012t0017g0088 a0002c0015t0021g0008 a0002c0022t0036g0048 a0002c0030t0016g0122 a0002c0031t0015g0001 a0002c0032t0050g0061 a0002c0035t0047g0076 a0002c0036t0029g0009 a0002c0037t0009g0046 a0002c0041t0027g0018 a0002c0048t0013g0015 a0002c0051t0006g0081 a0002c0053t0022g0041 a0002c0054t0079g0096 a0002c0060t0006g0094 a0002c0070t0046g0092 a0002c0072t0003g0066 a0002c0074t0041g0031 a0002c0075t0026g0051 a0002c0078t0044g0064 a0002c0084t0018g0087 a0002c0089t0001g0037 a0002c0091t0002g0114 a0002c0092t0001g0011 a0003c0014t0055g0056 a0003c0034t0030g0038 a0003c0057t0080g0075 a0003c0058t0057g0117 a0004c0056t0062g0072 a0004c0087t0001g0022 a0004c0099t0014g0020 a0005c0064t0051g0078 a0005c0065t0023g0050 a0005c0107t0068g0073 a0006c0083t0004g0006 a0006c0116t0004g0039 a0007c0029t0011g0054 a0007c0088t0076g0057 a0008c0008t0082g0126 a0008c0067t0059g0079 a0009c0113t0011g0043 a0010c0112t0081g0090 a0011c0110t0074g0082 a0012c0104t0071g0058 a0013c0027t0003g0099 a0014c0010t0070g0084 a0015c0062t0056g0062 a0016c0063t0010g0045 a0017c0106t0012g0042 a0018c0044t0064g0085 a0019c0018t0058g0068 a0020c0024t0077g0104 a0021c0016t0048g0106 a0022c0013t0007g0112 a0023c0095t0002g0124 a0024c0038t0075g0067 a0025c0096t0067g0116 a0026c0082t0052g0097 a0027c0023t0001g0052 a0030c0052t0049g0098 a0031c0069t0043g0100 a0033c0042t0004g0004 a0035c0098t0025g0019 a0036c0100t0017g0121 a0038c0066t0010g0032 a0039c0009t0001g0002	108	126	0.8571	14	c.156 others(35): Show c.1561+12393_1561+12394insAGACAGTGGGTGCA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3485538	C C	CACACACA others(7): Show CACACACACACAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01261.hp2 HG02257.hp1 others(11): Show HG01243.hp1 HG01261.hp2 HG02257.hp1 HG02683.hp1 HG02723.hp2 HG03209.hp2 HG03225.hp2 HG03669.hp2 HG03710.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18984.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0016 a0022 a0027	a0001c0001 a0001c0021 a0001c0025 others(9): Show a0001c0001 a0001c0021 a0001c0025 a0001c0059 a0002c0060 a0002c0072 a0005c0064 a0005c0065 a0007c0088 a0016c0063 a0022c0013 a0027c0023	a0001c0001t0002 a0001c0001t0039 a0001c0021t0005 others(10): Show a0001c0001t0002 a0001c0001t0039 a0001c0021t0005 a0001c0025t0003 a0001c0059t0001 a0002c0060t0006 a0002c0072t0003 a0005c0064t0051 a0005c0065t0023 a0007c0088t0076 a0016c0063t0010 a0022c0013t0007 a0027c0023t0001	a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 others(11): Show a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 a0001c0021t0005g0012 a0001c0025t0003g0077 a0001c0059t0001g0036 a0002c0060t0006g0094 a0002c0072t0003g0066 a0005c0064t0051g0078 a0005c0065t0023g0050 a0007c0088t0076g0057 a0016c0063t0010g0045 a0022c0013t0007g0112 a0027c0023t0001g0052	14	126	0.1111	14	c.144 others(33): Show c.1448+8084_1448+8085insCTCTGTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	11/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3485538	C C	CACACACA others(7): Show CACACACACAGAGAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01071.hp2 HG02886.hp1 others(4): Show HG00735.hp1 HG01071.hp2 HG02886.hp1 HG02965.hp1 HG03195.hp1 HG03834.hp1 NA19030.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0021 a0030	a0001c0019 a0001c0039 a0001c0047 others(4): Show a0001c0019 a0001c0039 a0001c0047 a0002c0054 a0004c0087 a0021c0016 a0030c0052	a0001c0019t0078 a0001c0039t0066 a0001c0047t0014 others(4): Show a0001c0019t0078 a0001c0039t0066 a0001c0047t0014 a0002c0054t0079 a0004c0087t0001 a0021c0016t0048 a0030c0052t0049	a0001c0019t0078g0105 a0001c0039t0066g0080 a0001c0047t0014g0024 others(4): Show a0001c0019t0078g0105 a0001c0039t0066g0080 a0001c0047t0014g0024 a0002c0054t0079g0096 a0004c0087t0001g0022 a0021c0016t0048g0106 a0030c0052t0049g0098	7	126	0.0556	14	c.144 others(33): Show c.1448+8084_1448+8085insCTCTCTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	11/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3520019	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0016 a0001c0020t0016	a0001c0020t0016g0065 a0001c0020t0016g0065	1	126	0.0079	14	c.134 others(35): Show c.1345-26294_1345-26293insATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3520039	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02723.hp2 HG06807.hp2 others(2): Show HG02257.hp2 HG02723.hp2 HG06807.hp2 NA18983.hp1 NA19060.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0061 a0001c0068 a0002c0048 others(2): Show a0001c0061 a0001c0068 a0002c0048 a0002c0075 a0005c0065	a0001c0061t0001 a0001c0068t0015 a0002c0048t0013 others(2): Show a0001c0061t0001 a0001c0068t0015 a0002c0048t0013 a0002c0075t0026 a0005c0065t0023	a0001c0061t0001g0021 a0001c0068t0015g0049 a0002c0048t0013g0015 others(2): Show a0001c0061t0001g0021 a0001c0068t0015g0049 a0002c0048t0013g0015 a0002c0075t0026g0051 a0005c0065t0023g0050	5	126	0.0397	14	c.134 others(35): Show c.1345-26314_1345-26313insGTATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3523949	A A	ATACACAT others(7): Show ATACACATGCACACT	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19240.hp2 HG03098.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0045 a0001c0002 a0001c0045	a0001c0002t0028 a0001c0045t0012 a0001c0002t0028 a0001c0045t0012	a0001c0002t0028g0005 a0001c0045t0012g0010 a0001c0002t0028g0005 a0001c0045t0012g0010	2	126	0.0159	14	c.134 others(35): Show c.1345-30237_1345-30224dupAGTGTGCATGTGTA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3556391	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03579.hp2 HG06807.hp2 others(1): Show HG02723.hp2 HG03579.hp2 HG06807.hp2 NA18971.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0020	a0001c0068 a0002c0077 a0005c0065 others(1): Show a0001c0068 a0002c0077 a0005c0065 a0020c0024	a0001c0068t0015 a0002c0077t0001 a0005c0065t0023 others(1): Show a0001c0068t0015 a0002c0077t0001 a0005c0065t0023 a0020c0024t0077	a0001c0068t0015g0049 a0002c0077t0001g0016 a0005c0065t0023g0050 others(1): Show a0001c0068t0015g0049 a0002c0077t0001g0016 a0005c0065t0023g0050 a0020c0024t0077g0104	4	126	0.0318	14	c.134 others(35): Show c.1344+18553_1344+18554insTATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3564517	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01074.hp1 HG01243.hp1 others(11): Show HG00438.hp2 HG01074.hp1 HG01243.hp1 HG01884.hp2 HG02074.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp1 HG02683.hp1 HG02965.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp1 NA20129.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0014 a0029 a0032 a0038	a0001c0004 a0001c0017 a0001c0021 others(11): Show a0001c0004 a0001c0017 a0001c0021 a0001c0025 a0001c0079 a0001c0081 a0002c0022 a0002c0075 a0003c0014 a0005c0064 a0014c0010 a0029c0028 a0032c0011 a0038c0066	a0001c0004t0020 a0001c0017t0005 a0001c0021t0005 others(11): Show a0001c0004t0020 a0001c0017t0005 a0001c0021t0005 a0001c0025t0003 a0001c0079t0072 a0001c0081t0037 a0002c0022t0036 a0002c0075t0026 a0003c0014t0055 a0005c0064t0051 a0014c0010t0070 a0029c0028t0024 a0032c0011t0065 a0038c0066t0010	a0001c0004t0020g0086 a0001c0017t0005g0003 a0001c0021t0005g0012 others(11): Show a0001c0004t0020g0086 a0001c0017t0005g0003 a0001c0021t0005g0012 a0001c0025t0003g0077 a0001c0079t0072g0113 a0001c0081t0037g0030 a0002c0022t0036g0048 a0002c0075t0026g0051 a0003c0014t0055g0056 a0005c0064t0051g0078 a0014c0010t0070g0084 a0029c0028t0024g0040 a0032c0011t0065g0101 a0038c0066t0010g0032	14	126	0.1111	14	c.134 others(35): Show c.1344+10414_1344+10427dupCACACACACACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3658464	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0009 a0001c0093t0009	a0001c0093t0009g0007 a0001c0093t0009g0007	1	126	0.0079	14	c.101 others(35): Show c.1010-41668_1010-41667insTATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3695087	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02074.hp1 HG02922.hp2 others(7): Show HG01884.hp1 HG02074.hp1 HG02922.hp2 HG03098.hp1 HG03139.hp2 HG03516.hp1 HG04204.hp2 NA18522.hp2 NA19043.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0031	a0001c0001 a0001c0002 a0001c0033 others(7): Show a0001c0001 a0001c0002 a0001c0033 a0001c0045 a0001c0046 a0001c0050 a0001c0079 a0002c0072 a0003c0014 a0031c0069	a0001c0001t0002 a0001c0002t0028 a0001c0033t0003 others(7): Show a0001c0001t0002 a0001c0002t0028 a0001c0033t0003 a0001c0045t0012 a0001c0046t0073 a0001c0050t0053 a0001c0079t0072 a0002c0072t0003 a0003c0014t0055 a0031c0069t0043	a0001c0001t0002g0102 a0001c0002t0028g0005 a0001c0033t0003g0059 others(7): Show a0001c0001t0002g0102 a0001c0002t0028g0005 a0001c0033t0003g0059 a0001c0045t0012g0010 a0001c0046t0073g0091 a0001c0050t0053g0120 a0001c0079t0072g0113 a0002c0072t0003g0066 a0003c0014t0055g0056 a0031c0069t0043g0100	10	126	0.0794	14	c.100 others(35): Show c.1009+13313_1009+13326dupACACACACACACAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3695115	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0027 a0027	a0027c0023 a0027c0023	a0027c0023t0001 a0027c0023t0001	a0027c0023t0001g0052 a0027c0023t0001g0052	1	126	0.0079	14	c.100 others(35): Show c.1009+13298_1009+13299insGCACACACACACAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3709680	G G	GGCTTTTT others(7): Show GGCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0082 a0008c0008t0082	a0008c0008t0082g0126 a0008c0008t0082g0126	1	126	0.0079	14	c.932 others(31): Show c.932-1190_932-1189insAAAAAAAAAAAAGC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3714561	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01074.hp1 HG01074.hp2 others(29): Show HG00438.hp1 HG01074.hp1 HG01074.hp2 HG01123.hp2 HG01255.hp1 HG01261.hp1 HG01934.hp1 HG01934.hp2 HG02129.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03516.hp1 HG03579.hp2 HG03834.hp2 HG04204.hp2 HG06807.hp1 NA18982.hp2 NA18984.hp2 NA19043.hp2 NA19060.hp1 NA19074.hp2 NA19090.hp2 NA19240.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0020 a0026 a0029 a0031 a0032 a0038	a0001c0001 a0001c0003 a0001c0005 others(27): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0025 a0001c0040 a0001c0050 a0001c0085 a0001c0090 a0001c0094 a0001c0103 a0001c0108 a0002c0030 a0002c0031 a0002c0035 a0002c0037 a0002c0054 a0002c0060 a0002c0078 a0002c0092 a0003c0014 a0003c0058 a0004c0056 a0004c0099 a0020c0024 a0026c0082 a0029c0028 a0031c0069 a0032c0011 a0038c0066	a0001c0001t0002 a0001c0003t0008 a0001c0003t0013 others(29): Show a0001c0001t0002 a0001c0003t0008 a0001c0003t0013 a0001c0003t0019 a0001c0005t0002 a0001c0007t0001 a0001c0025t0003 a0001c0040t0019 a0001c0050t0053 a0001c0085t0020 a0001c0090t0001 a0001c0094t0002 a0001c0103t0033 a0001c0108t0054 a0002c0030t0016 a0002c0031t0015 a0002c0035t0047 a0002c0037t0009 a0002c0054t0079 a0002c0060t0006 a0002c0078t0044 a0002c0092t0001 a0003c0014t0055 a0003c0058t0057 a0004c0056t0062 a0004c0099t0014 a0020c0024t0077 a0026c0082t0052 a0029c0028t0024 a0031c0069t0043 a0032c0011t0065 a0038c0066t0010	a0001c0001t0002g0102 a0001c0003t0008g0053 a0001c0003t0013g0026 others(29): Show a0001c0001t0002g0102 a0001c0003t0008g0053 a0001c0003t0013g0026 a0001c0003t0019g0107 a0001c0005t0002g0111 a0001c0007t0001g0035 a0001c0025t0003g0077 a0001c0040t0019g0123 a0001c0050t0053g0120 a0001c0085t0020g0060 a0001c0090t0001g0027 a0001c0094t0002g0110 a0001c0103t0033g0028 a0001c0108t0054g0074 a0002c0030t0016g0122 a0002c0031t0015g0001 a0002c0035t0047g0076 a0002c0037t0009g0046 a0002c0054t0079g0096 a0002c0060t0006g0094 a0002c0078t0044g0064 a0002c0092t0001g0011 a0003c0014t0055g0056 a0003c0058t0057g0117 a0004c0056t0062g0072 a0004c0099t0014g0020 a0020c0024t0077g0104 a0026c0082t0052g0097 a0029c0028t0024g0040 a0031c0069t0043g0100 a0032c0011t0065g0101 a0038c0066t0010g0032	32	126	0.2540	14	c.932 others(31): Show c.932-6084_932-6071dupTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar

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