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
CRYZ_chr1_74700486_74738050	74702929	A A	AAGTGTGT others(4): Show AAGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	372	0.0027	11	c.33 others(22): Show c.3366_*3367insACACACACACT	CRYZ	ENSG00000116791.14	transcript	ENST00000340866.10	protein_coding		2556		chr1	TogoVar
CSAD_chr12_53152663_53185925	53184114	G G	GTGTGTGT others(4): Show GTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	334	0.0030	11	c.-34 others(22): Show c.-3474_-3473insACACACACACA	CSAD	ENSG00000139631.20	transcript	ENST00000444623.6	protein_coding		3190		chr12	TogoVar
CSAG2_chrX_152703261_152714273	152709605	A A	AGAGAGAG others(4): Show AGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	211	0.0047	11	c.-49 others(20): Show c.-494_-493insCTCTCTCTCTC	CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding		333		chrX	TogoVar
CSDC2_chr22_41556010_41581666	41561045	G G	GCACACAC others(4): Show GCACACACACAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0018 a0001c0001t0048g0018	1	288	0.0035	11	c.-26 others(20): Show c.-262_-261insCACACACACAC	CSDC2	ENSG00000172346.15	transcript	ENST00000306149.12	protein_coding	1/4	10920		chr22	TogoVar
CSDC2_chr22_41556010_41581666	41568134	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0082 a0001c0001t0026g0082	1	288	0.0035	11	c.-12 others(30): Show c.-123-3701_-123-3700insTTTTTTTTTTT	CSDC2	ENSG00000172346.15	transcript	ENST00000306149.12	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
CSE1L_chr20_49041312_49101949	49047564	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03710.hp2 NA18747.hp1 others(1): Show HG02895.hp1 HG03710.hp2 NA18747.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 others(1): Show a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290	4	386	0.0104	11	c.-12 others(28): Show c.-12+1159_-12+1169dupTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSE1L_chr20_49041312_49101949	49065311	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	386	0.0026	11	c.229 others(26): Show c.229-881_229-880insTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	3/24			chr20	TogoVar
CSE1L_chr20_49041312_49101949	49065586	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03710.hp1 HG04228.hp2 others(3): Show HG01978.hp1 HG03710.hp1 HG04228.hp2 NA18993.hp1 NA19011.hp1 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0189 others(3): Show a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0189 a0001c0001t0001g0194 a0002c0003t0001g0166 a0002c0003t0001g0179	6	386	0.0155	11	c.229 others(26): Show c.229-590_229-580dupTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSE1L_chr20_49041312_49101949	49085562	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0239 a0005c0005t0001g0239	1	386	0.0026	11	c.172 others(28): Show c.1723+193_1723+203dupTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	16/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSE1L_chr20_49041312_49101949	49097938	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02622.hp1 others(2): Show HG02109.hp2 HG02559.hp1 HG02622.hp1 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0226 a0001c0001t0002g0227 others(2): Show a0001c0001t0002g0003 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0231	5	386	0.0130	11	c.15 others(22): Show c.1500_*1501insTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding		990		chr20	TogoVar
CSF1R_chr5_150048295_150091554	150079482	T T	TCACACGC others(4): Show TCACACGCACCC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0358 a0001c0005t0004g0358	1	406	0.0025	11	c.592 others(26): Show c.592+559_592+569dupGGGTGCGTGTG	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	3/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084388	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18985.hp1 NA18981.hp2 NA18985.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0001c0002 a0002c0008	a0001c0002t0001 a0002c0008t0001 a0001c0002t0001 a0002c0008t0001	a0001c0002t0001g0123 a0002c0008t0001g0239 a0001c0002t0001g0123 a0002c0008t0001g0239	2	406	0.0049	11	c.49+ others(26): Show c.49+1990_49+1991insCTTTCTTTCTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150085277	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02145.hp1 others(14): Show HG01243.hp2 HG01884.hp2 HG02145.hp1 HG02280.hp1 HG02486.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02896.hp2 HG02922.hp1 HG03130.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0002 a0001c0006 others(7): Show a0001c0001 a0001c0002 a0001c0006 a0002c0008 a0003c0007 a0003c0014 a0003c0015 a0006c0011 a0007c0025 a0007c0026	a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 others(11): Show a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0006t0003 a0001c0006t0004 a0002c0008t0001 a0003c0007t0003 a0003c0007t0006 a0003c0007t0013 a0003c0014t0012 a0003c0015t0003 a0006c0011t0006 a0007c0025t0003 a0007c0026t0006	a0001c0001t0005g0085 a0001c0001t0005g0391 a0001c0001t0005g0392 others(14): Show a0001c0001t0005g0085 a0001c0001t0005g0391 a0001c0001t0005g0392 a0001c0001t0006g0082 a0001c0001t0006g0386 a0001c0002t0001g0387 a0001c0006t0003g0235 a0001c0006t0004g0081 a0002c0008t0001g0236 a0003c0007t0003g0390 a0003c0007t0006g0388 a0003c0007t0013g0389 a0003c0014t0012g0087 a0003c0015t0003g0086 a0006c0011t0006g0015 a0007c0025t0003g0083 a0007c0026t0006g0084	17	406	0.0419	11	c.49+ others(26): Show c.49+1091_49+1101dupTTTTTTTTTTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150085286	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01943.hp2 HG02132.hp2 others(5): Show HG00423.hp1 HG01943.hp2 HG02132.hp2 HG02559.hp2 HG03017.hp1 HG03017.hp2 NA18984.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0028	a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0028t0002	a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0007g0099 others(5): Show a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0007g0099 a0001c0002t0001g0092 a0001c0002t0001g0095 a0001c0002t0002g0093 a0001c0005t0001g0098 a0001c0028t0002g0096	8	406	0.0197	11	c.49+ others(26): Show c.49+1092_49+1093insGTTTTTTTTTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF2RA_chrX_1263814_1314935	1282031	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02155.hp2 HG02273.hp1 others(2): Show HG01346.hp2 HG02155.hp2 HG02273.hp1 NA18984.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 a0001c0001t0001 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0017 a0001c0001t0001g0047 a0001c0001t0001g0101 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0047 a0001c0001t0001g0101 a0001c0002t0003g0059 a0001c0002t0004g0058	5	159	0.0315	11	c.-26 others(26): Show c.-26-633_-26-623dupAAAAAAAAAAA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1282038	A A	AAAACAAA others(4): Show AAAACAAAAAAC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0004 a0011c0021t0004	a0011c0021t0004g0074 a0011c0021t0004g0074	1	159	0.0063	11	c.-26 others(26): Show c.-26-637_-26-636insCAAAAAACAAA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1297568	C C	CAACCCCC others(4): Show CAACCCCCGGTG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0112 a0001c0002t0002g0112	1	159	0.0063	11	c.810 others(28): Show c.810+2112_810+2113insAACCCCCGGTG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12			chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1298521	A A	ACACTCTC others(4): Show ACACTCTCCTAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	1	159	0.0063	11	c.811 others(28): Show c.811-1970_811-1969insCACTCTCCTAC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12			chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1298524	G G	GTCTCCTA others(4): Show GTCTCCTACCCA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	159	0.0063	11	c.811 others(28): Show c.811-1966_811-1965insCTCCTACCCAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1298615	C C	CAACCCCC others(4): Show CAACCCCCGGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0006 a0004c0010t0006	a0004c0010t0006g0033 a0004c0010t0006g0033	1	159	0.0063	11	c.811 others(28): Show c.811-1876_811-1875insAACCCCCGGTG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12			chrX	TogoVar
CSGALNACT1_chr8_19399161_19762277	19507528	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0046 a0002c0003t0046	a0002c0003t0046g0081 a0002c0003t0046g0081	1	238	0.0042	11	c.-29 others(30): Show c.-296-1409_-296-1399dupTTTTTTTTTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19541553	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03486.hp1 NA19054.hp2 HG02015.hp2 HG03486.hp1 NA19054.hp2	a0003 a0004 a0003 a0004	a0003c0005 a0004c0009 a0003c0005 a0004c0009	a0003c0005t0004 a0004c0009t0003 a0003c0005t0004 a0004c0009t0003	a0003c0005t0004g0007 a0004c0009t0003g0107 a0004c0009t0003g0215 a0003c0005t0004g0007 a0004c0009t0003g0107 a0004c0009t0003g0215	3	238	0.0126	11	c.-29 others(32): Show c.-296-35434_-296-35424dupAAAAAAAAAAA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19542200	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18977.hp1 HG02647.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0005 a0001c0001t0010 a0001c0002t0005	a0001c0001t0010g0202 a0001c0002t0005g0172 a0001c0001t0010g0202 a0001c0002t0005g0172	2	238	0.0084	11	c.-29 others(32): Show c.-296-36071_-296-36070insGTGTGTGTGTG	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19599525	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0165 a0001c0001t0017g0165	1	238	0.0042	11	c.-29 others(30): Show c.-297+2245_-297+2246insCTTTCTTTCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19612946	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0153 a0001c0002t0004g0153	1	238	0.0042	11	c.-39 others(32): Show c.-391-11092_-391-11082dupTTTTTTTTTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19649819	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG00673.hp1 others(30): Show HG00323.hp2 HG00597.hp1 HG00673.hp1 HG00673.hp2 HG01071.hp1 HG01074.hp2 HG01258.hp2 HG01261.hp2 HG01978.hp2 HG02056.hp1 HG02132.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02897.hp1 HG03041.hp1 HG03195.hp1 HG03669.hp1 HG03942.hp1 HG04115.hp2 HG04228.hp1 NA18942.hp1 NA18952.hp1 NA18968.hp2 NA18977.hp1 NA18977.hp2 NA18984.hp2 NA18988.hp1 NA18993.hp2 NA19030.hp1 NA19054.hp2 NA19087.hp2 NA19240.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0013 a0014	a0001c0001 a0001c0002 a0001c0006 others(9): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0002c0003 a0002c0004 a0002c0008 a0002c0012 a0003c0005 a0004c0009 a0013c0014 a0014c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0002t0002 a0001c0002t0008 a0001c0002t0016 a0001c0006t0002 a0001c0007t0031 a0002c0003t0003 a0002c0003t0004 a0002c0003t0038 a0002c0004t0012 a0002c0008t0003 a0002c0012t0042 a0003c0005t0027 a0004c0009t0003 a0004c0009t0012 a0013c0014t0006 a0014c0013t0004	a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0085 others(30): Show a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0085 a0001c0001t0001g0123 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0006g0005 a0001c0001t0006g0152 a0001c0001t0010g0122 a0001c0001t0010g0202 a0001c0002t0002g0010 a0001c0002t0002g0103 a0001c0002t0002g0234 a0001c0002t0008g0022 a0001c0002t0016g0162 a0001c0006t0002g0063 a0001c0006t0002g0135 a0001c0006t0002g0136 a0001c0007t0031g0029 a0002c0003t0003g0105 a0002c0003t0004g0014 a0002c0003t0038g0221 a0002c0004t0012g0200 a0002c0008t0003g0140 a0002c0008t0003g0155 a0002c0012t0042g0091 a0003c0005t0027g0229 a0004c0009t0003g0107 a0004c0009t0012g0070 a0013c0014t0006g0230 a0014c0013t0004g0220	33	238	0.1387	11	c.-39 others(32): Show c.-391-47965_-391-47955dupTTTTTTTTTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666808	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0202 a0001c0001t0010g0202	1	238	0.0042	11	c.-39 others(32): Show c.-391-64944_-391-64943insCTTTCTTTCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667047	G G	GGAAGGAA others(4): Show GGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	238	0.0042	11	c.-39 others(32): Show c.-391-65183_-391-65182insTTCCTTCCTTC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19701153	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp1 HG03669.hp1 others(2): Show HG02451.hp2 HG02647.hp1 HG03669.hp1 NA18522.hp2 NA18952.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0003 a0001c0001 a0001c0010 a0002c0003	a0001c0001t0002 a0001c0010t0018 a0002c0003t0003 others(2): Show a0001c0001t0002 a0001c0010t0018 a0002c0003t0003 a0002c0003t0007 a0002c0003t0046	a0001c0001t0002g0204 a0001c0010t0018g0026 a0002c0003t0003g0099 others(2): Show a0001c0001t0002g0204 a0001c0010t0018g0026 a0002c0003t0003g0099 a0002c0003t0007g0051 a0002c0003t0046g0081	5	238	0.0210	11	c.-39 others(32): Show c.-392+56022_-392+56032dupAAAAAAAAAAA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19701160	T T	TTTTTTTT others(4): Show TTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0236 a0001c0002t0002g0236	1	238	0.0042	11	c.-39 others(32): Show c.-392+56025_-392+56026insGAAAAAAAAAA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19755456	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01070.hp1 HG01257.hp1 others(13): Show HG00408.hp2 HG01070.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01496.hp2 HG02015.hp2 HG02155.hp2 HG03492.hp2 HG03688.hp1 HG03834.hp1 HG04228.hp1 NA18953.hp1 NA18966.hp2 NA19056.hp1 NA20752.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0004 others(2): Show a0001c0001 a0001c0002 a0002c0004 a0002c0008 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 a0001c0002t0008 a0002c0004t0013 a0002c0008t0003 a0004c0009t0003	a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 others(13): Show a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0002g0163 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0006g0152 a0001c0002t0002g0164 a0001c0002t0008g0216 a0002c0004t0013g0219 a0002c0008t0003g0156 a0004c0009t0003g0215	16	238	0.0672	11	c.-39 others(30): Show c.-392+1719_-392+1729dupTTTTTTTTTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT2_chr10_43133445_43190302	43146963	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18941.hp1 NA18950.hp2 others(9): Show HG02155.hp1 NA18941.hp1 NA18950.hp2 NA18953.hp2 NA18957.hp1 NA18964.hp1 NA18982.hp1 NA18988.hp1 NA19002.hp1 NA19079.hp2 NA19080.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0043 a0001c0001t0004g0291 others(5): Show a0001c0001t0004g0009 a0001c0001t0004g0043 a0001c0001t0004g0291 a0001c0001t0004g0296 a0001c0001t0004g0298 a0001c0001t0004g0304 a0001c0001t0004g0311 a0001c0001t0004g0316	12	398	0.0302	11	c.-25 others(30): Show c.-253-7918_-253-7908dupTTTTTTTTTTT	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(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01109.hp1 HG02886.hp1 others(5): Show HG01071.hp2 HG01109.hp1 HG02886.hp1 HG03669.hp2 NA18940.hp1 NA18991.hp2 NA19009.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0020 a0002c0002t0001	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0009g0095 others(5): Show a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0009g0095 a0001c0001t0010g0045 a0001c0001t0010g0266 a0001c0001t0020g0188 a0002c0002t0001g0149 a0002c0002t0001g0154	8	398	0.0201	11	c.-25 others(30): Show c.-253-1553_-253-1552insAAAAAAAAAAA	CSGALNACT2	ENSG00000169826.8	transcript	ENST00000374466.4	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CSH1_chr17_63889918_63901574	63898144	T T	TTCTTCTC others(4): Show TTCTTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	11	c.-16 others(22): Show c.-1634_-1633insGAGAGAGAAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1571		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898175	T T	TCTCTCTC others(4): Show TCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG04199.hp1 HG02165.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	428	0.0047	11	c.-16 others(22): Show c.-1665_-1664insGAGAGAGAGAG	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1602		chr17	TogoVar
CSHL1_chr17_63904608_63916258	63904785	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0012 a0009c0010t0012	a0009c0010t0012g0046 a0009c0010t0012g0046	1	438	0.0023	11	c.49 others(22): Show c.4925_*4926insAAAAAAAAAAA	CSHL1	ENSG00000204414.14	transcript	ENST00000309894.6	protein_coding		4822		chr17	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(4): Show TTTTTTTTTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0133 a0001c0001t0006g0133	1	394	0.0025	11	c.-66 others(28): Show c.-66+3294_-66+3295insTTTTTTTGTGT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSMD1_chr8_2930361_4999914	2930963	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG03130.hp2 HG02486.hp2 HG03130.hp2	a0002 a0018 a0002 a0018	a0002c0070 a0018c0044 a0002c0070 a0018c0044	a0002c0070t0046 a0018c0044t0064 a0002c0070t0046 a0018c0044t0064	a0002c0070t0046g0092 a0018c0044t0064g0085 a0002c0070t0046g0092 a0018c0044t0064g0085	2	126	0.0159	11	c.76 others(22): Show c.7621_*7622insCTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding		4397		chr8	TogoVar
CSMD1_chr8_2930361_4999914	2994145	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18906.hp2 HG02280.hp1 NA18906.hp2	a0002 a0008 a0002 a0008	a0002c0053 a0008c0067 a0002c0053 a0008c0067	a0002c0053t0022 a0008c0067t0059 a0002c0053t0022 a0008c0067t0059	a0002c0053t0022g0041 a0008c0067t0059g0079 a0002c0053t0022g0041 a0008c0067t0059g0079	2	126	0.0159	11	c.837 others(30): Show c.8377+3855_8377+3865dupTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	54/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3083648	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0109 a0001c0109	a0001c0109t0038 a0001c0109t0038	a0001c0109t0038g0013 a0001c0109t0038g0013	1	126	0.0079	11	c.747 others(30): Show c.7474+3448_7474+3449insATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	49/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3083649	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0036 a0036	a0036c0100 a0036c0100	a0036c0100t0017 a0036c0100t0017	a0036c0100t0017g0121 a0036c0100t0017g0121	1	126	0.0079	11	c.747 others(30): Show c.7474+3447_7474+3448insTATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	49/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3155359	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02572.hp2 HG02683.hp1 others(2): Show HG01261.hp2 HG02572.hp2 HG02683.hp1 HG02683.hp2 NA18971.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0016 a0023	a0001c0021 a0002c0037 a0007c0029 others(2): Show a0001c0021 a0002c0037 a0007c0029 a0016c0063 a0023c0095	a0001c0021t0005 a0002c0037t0009 a0007c0029t0011 others(2): Show a0001c0021t0005 a0002c0037t0009 a0007c0029t0011 a0016c0063t0010 a0023c0095t0002	a0001c0021t0005g0012 a0002c0037t0009g0046 a0007c0029t0011g0054 others(2): Show a0001c0021t0005g0012 a0002c0037t0009g0046 a0007c0029t0011g0054 a0016c0063t0010g0045 a0023c0095t0002g0124	5	126	0.0397	11	c.591 others(30): Show c.5914+2527_5914+2537dupAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	39/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3235916	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02257.hp2 HG03209.hp1 others(1): Show HG01934.hp1 HG02257.hp2 HG03209.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0020 a0002c0075 others(1): Show a0001c0003 a0001c0020 a0002c0075 a0002c0092	a0001c0003t0019 a0001c0020t0016 a0002c0075t0026 others(1): Show a0001c0003t0019 a0001c0020t0016 a0002c0075t0026 a0002c0092t0001	a0001c0003t0019g0107 a0001c0020t0016g0065 a0002c0075t0026g0051 others(1): Show a0001c0003t0019g0107 a0001c0020t0016g0065 a0002c0075t0026g0051 a0002c0092t0001g0011	4	126	0.0318	11	c.415 others(30): Show c.4154-5696_4154-5686dupAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	26/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3248523	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0058 a0003c0058	a0003c0058t0057 a0003c0058t0057	a0003c0058t0057g0117 a0003c0058t0057g0117	1	126	0.0079	11	c.415 others(32): Show c.4154-18303_4154-18293dupAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	26/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3331237	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0017 a0017	a0017c0106 a0017c0106	a0017c0106t0012 a0017c0106t0012	a0017c0106t0012g0042 a0017c0106t0012g0042	1	126	0.0079	11	c.363 others(32): Show c.3631+12046_3631+12056dupTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	23/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439122	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02922.hp2 HG00438.hp2 HG02922.hp2	a0001 a0031 a0001 a0031	a0001c0081 a0031c0069 a0001c0081 a0031c0069	a0001c0081t0037 a0031c0069t0043 a0001c0081t0037 a0031c0069t0043	a0001c0081t0037g0030 a0031c0069t0043g0100 a0001c0081t0037g0030 a0031c0069t0043g0100	2	126	0.0159	11	c.156 others(32): Show c.1562-29528_1562-29518dupTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439309	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0060 a0002c0060	a0002c0060t0006 a0002c0060t0006	a0002c0060t0006g0094 a0002c0060t0006g0094	1	126	0.0079	11	c.156 others(32): Show c.1561+29402_1561+29403insATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439309	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03225.hp2 HG01261.hp2 HG03225.hp2	a0001 a0016 a0001 a0016	a0001c0025 a0016c0063 a0001c0025 a0016c0063	a0001c0025t0003 a0016c0063t0010 a0001c0025t0003 a0016c0063t0010	a0001c0025t0003g0077 a0016c0063t0010g0045 a0001c0025t0003g0077 a0016c0063t0010g0045	2	126	0.0159	11	c.156 others(32): Show c.1561+29402_1561+29403insAAATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439309	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02683.hp1 HG02723.hp2 HG01243.hp1 HG02683.hp1 HG02723.hp2	a0001 a0005 a0001 a0005	a0001c0021 a0005c0064 a0005c0065 a0001c0021 a0005c0064 a0005c0065	a0001c0021t0005 a0005c0064t0051 a0005c0065t0023 a0001c0021t0005 a0005c0064t0051 a0005c0065t0023	a0001c0021t0005g0012 a0005c0064t0051g0078 a0005c0065t0023g0050 a0001c0021t0005g0012 a0005c0064t0051g0078 a0005c0065t0023g0050	3	126	0.0238	11	c.156 others(32): Show c.1561+29402_1561+29403insAAAAATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439309	A A	ATATTTTT others(4): Show ATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0111 a0001c0005t0002g0111	1	126	0.0079	11	c.156 others(32): Show c.1561+29402_1561+29403insAAAAAAAAATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar

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