Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CFAP77_chr9_132405211_132578319	132486045	TGTATATG others(32): Show TGTATATGTATGTGTGTGTGTGTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	322	0.0031	-39	c.196 others(58): Show c.196-12649_196-12611delGTATATGTATGTGTGTGTGTGTATAT ATATATATATATA		CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5						chr9	TogoVar
CFAP77_chr9_132405211_132578319	132492351	GGGCTTCT others(32): Show GGGCTTCTCCTGTGTATAAGGCTCTGTGCTGTGCACCGTT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	322	0.0031	-39	c.196 others(56): Show c.196-6342_196-6304delGCTTCTCCTGTGTATAAGGCTCTGTGCT GTGCACCGTTG		CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843554	CCTCCTTC others(32): Show CCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0375 a0001c0001t0001g0375	1	380	0.0026	-39	c.153 others(54): Show c.153-960_153-922delCCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCT		CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843557	CCTTCTTC others(32): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0371 a0001c0001t0001g0371	1	380	0.0026	-39	c.153 others(54): Show c.153-925_153-887delTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTC		CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP97D2_chr13_114174257_114228085	114198654	TTTACGGT others(32): Show TTTACGGTCCCCGCTGAGGCGTGACAGTGGGTCCCCGTGC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	400	0.0025	-39	c.172 others(56): Show c.172-1670_172-1632delTTACGGTCCCCGCTGAGGCGTGACAGTG GGTCCCCGTGC		CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3						chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199843	GGTGACGG others(32): Show GGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGATGAGGC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02148.hp1 HG00323.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	2	400	0.0050	-39	c.172 others(54): Show c.172-349_172-311delCGTGCTTACGGTCCCCGATGAGGCGTGACG GCGCGTCCC		CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114200061	TCGGTCCC others(32): Show TCGGTCCCCGCTTAGGGGTGACGGCGTGTCCCCGTGCTTA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03942.hp1 HG03225.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0115 a0001c0001t0003g0170 a0001c0001t0001g0115 a0001c0001t0003g0170	2	400	0.0050	-39	c.172 others(54): Show c.172-252_172-214delTAGGGGTGACGGCGTGTCCCCGTGCTTACG GTCCCCGCT		CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114225459	GAGGGGGA others(32): Show GAGGGGGAGGGAAAGGGGGAGGGGAGGGAGGGGGAGGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG04115.hp1 HG03942.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0096 a0001c0001t0001g0101	2	400	0.0050	-39	c.29 others(50): Show c.2953_*2991delAGGGGGAGGGAAAGGGGGAGGGGAGGGAGGGGGA GGGAA		CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding					2375		chr13	TogoVar
CHD5_chr1_6096787_6185321	6155107	AAAACACC others(32): Show AAAACACCCAGCTTCCTGTCCACACCCACAGCCCACCCCC	A A	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0101 a0001c0004t0006g0101	1	320	0.0031	-39	c.507 others(54): Show c.507-248_507-210delGGGGGTGGGCTGTGGGTGTGGACAGGAAGC TGGGTGTTT		CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	4/41						chr1	TogoVar
CHD5_chr1_6096787_6185321	6155113	CCCAGCTT others(32): Show CCCAGCTTCCTGTCCACACCCACAGCCCACCCCCAAAACA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0014 a0001c0028t0014	a0001c0028t0014g0058 a0001c0028t0014g0058	1	320	0.0031	-39	c.507 others(54): Show c.507-254_507-216delTGTTTTGGGGGTGGGCTGTGGGTGTGGACA GGAAGCTGG		CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	4/41						chr1	TogoVar
CHFR_chr12_132827356_132892605	132831922	CGCCACTC others(32): Show CGCCACTCTGACGTGGTGAAACAAACCATGGACCACCCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01192.hp2 HG00733.hp1 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0121 a0002c0002t0122 a0002c0002t0121 a0002c0002t0122	a0002c0002t0121g0061 a0002c0002t0122g0058 a0002c0002t0121g0061 a0002c0002t0122g0058	2	378	0.0053	-39	c.95 others(50): Show c.9593_*9631delATGGGTGGTCCATGGTTTGTTTCACCACGTCAGA GTGGC		CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding					433		chr12	TogoVar
CHFR_chr12_132827356_132892605	132868917	CTGCTGGT others(32): Show CTGCTGGTGGGGCCGAGGGGAAGGGGACATGGGGAGTGAT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0197 a0001c0004t0003g0197	1	378	0.0027	-39	c.583 others(54): Show c.583+663_583+701delATCACTCCCCATGTCCCCTTCCCCTCGGCC CCACCAGCA		CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	6/17						chr12	TogoVar
CHFR_chr12_132827356_132892605	132869046	TCGAGGGG others(32): Show TCGAGGGGAAGGGGACATGGGGAGTGACTGCTGGTGGGGC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02055.hp2 others(12): Show HG01109.hp2 HG01891.hp1 HG02055.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02723.hp2 HG02965.hp1 HG02970.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03540.hp2 NA18906.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0012 a0001c0001 a0002c0002 a0007c0012	a0001c0001t0009 a0001c0001t0023 a0001c0001t0073 others(3): Show a0001c0001t0009 a0001c0001t0023 a0001c0001t0073 a0001c0001t0119 a0002c0002t0049 a0007c0012t0071	a0001c0001t0009g0005 a0001c0001t0009g0030 a0001c0001t0009g0031 others(9): Show a0001c0001t0009g0005 a0001c0001t0009g0030 a0001c0001t0009g0031 a0001c0001t0009g0033 a0001c0001t0009g0036 a0001c0001t0009g0037 a0001c0001t0023g0001 a0001c0001t0073g0032 a0001c0001t0119g0035 a0002c0002t0049g0042 a0002c0002t0049g0043 a0007c0012t0071g0019	15	378	0.0397	-39	c.583 others(54): Show c.583+534_583+572delGCCCCACCAGCAGTCACTCCCCATGTCCCC TTCCCCTCG		CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	6/17						chr12	TogoVar
CHI3L2_chr1_111222713_111248440	111231545	ATATTCAG others(32): Show ATATTCAGAAAATTCTGAATTATTTACATGAATGTTTTTC	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0003 a0010c0014t0003	a0010c0014t0003g0092 a0010c0014t0003g0092	1	434	0.0023	-39	c.329 others(54): Show c.329+252_329+290delTATTCAGAAAATTCTGAATTATTTACATGA ATGTTTTTC		CHI3L2	ENSG00000064886.14	transcript	ENST00000369748.9	protein_coding	4/10						chr1	TogoVar
CHMP3_chr2_86498430_86568443	86544954	GGGGCGGC others(32): Show GGGGCGGCCGGGCAGAGGCGCTCCTCACCTCCCAGACGAA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01358.hp1 HG02572.hp2 others(5): Show HG01167.hp1 HG01358.hp1 HG02572.hp2 HG02717.hp1 HG02735.hp1 HG03195.hp1 HG03540.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0025	a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0004g0157 others(5): Show a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0160 a0001c0001t0005g0080 a0001c0001t0005g0081 a0001c0001t0025g0083	8	336	0.0238	-39	c.46- others(54): Show c.46-2681_46-2643delTTCGTCTGGGAGGTGAGGAGCGCCTCTGCC CGGCCGCCC		CHMP3	ENSG00000115561.16	transcript	ENST00000263856.9	protein_coding	1/5						chr2	TogoVar
CHMP3_chr2_86498430_86568443	86544987	AGACGAAG others(32): Show AGACGAAGGGCGGCCGGGCAGAGGCGCTCCTCACCTCCCG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA20752.hp2 NA18906.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0113 a0001c0001t0004g0140 a0001c0001t0002g0113 a0001c0001t0004g0140	2	336	0.0060	-39	c.46- others(54): Show c.46-2714_46-2676delCGGGAGGTGAGGAGCGCCTCTGCCCGGCCG CCCTTCGTC		CHMP3	ENSG00000115561.16	transcript	ENST00000263856.9	protein_coding	1/5						chr2	TogoVar
CHMP6_chr17_80986841_81005133	80994696	TGGGGCCC others(32): Show TGGGGCCCGGGCAGCGTGGGCACCCTGTCGGCTGGGGTGG	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG01255.hp2 others(47): Show HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01261.hp2 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18984.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 a0001c0001 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0019 a0001c0001t0028 a0001c0001t0029 a0001c0005t0003 a0001c0008t0003	a0001c0001t0001g0077 a0001c0001t0003g0005 a0001c0001t0003g0015 others(19): Show a0001c0001t0001g0077 a0001c0001t0003g0005 a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0034 a0001c0001t0003g0039 a0001c0001t0003g0062 a0001c0001t0003g0090 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0006g0073 a0001c0001t0007g0078 a0001c0001t0008g0023 a0001c0001t0009g0015 a0001c0001t0010g0023 a0001c0001t0012g0005 a0001c0001t0019g0005 a0001c0001t0028g0005 a0001c0001t0029g0015 a0001c0005t0003g0018 a0001c0008t0003g0018	50	438	0.1142	-39	c.174 others(52): Show c.174-81_174-43delGGGCAGCGTGGGCACCCTGTCGGCTGGGGTGG GGGGCCC		CHMP6	ENSG00000176108.9	transcript	ENST00000325167.9	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr17	TogoVar
CHST8_chr19_33616953_33778506	33618397	GTCTTCTT others(32): Show GTCTTCTTCTTCTTCTTCTTCTTCCTCGTCTTCTTCTTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03041.hp2 HG03579.hp2 others(1): Show HG02622.hp2 HG03041.hp2 HG03579.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0014 a0001c0001t0001g0251 a0001c0002t0001g0070 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0251 a0001c0002t0001g0070 a0001c0002t0001g0071	4	254	0.0158	-39	c.-40 others(50): Show c.-4062_-4024delTCTTCTTCTTCTTCTTCTTCTTCCTCGTCTTCTT CTTCT		CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding					3555		chr19	TogoVar
CHST8_chr19_33616953_33778506	33625302	CGATCTCC others(32): Show CGATCTCCTGACCTCGTGATCCGCCCACCTTGGCCTCCCA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG01167.hp1 others(23): Show HG00597.hp1 HG00609.hp2 HG01167.hp1 HG01243.hp2 HG01255.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG02071.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02300.hp1 HG02683.hp2 HG03017.hp1 HG03139.hp2 HG03710.hp1 HG04199.hp2 NA18944.hp1 NA18962.hp2 NA18983.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0065 a0001c0001t0002g0011 a0001c0001t0002g0036 others(23): Show a0001c0001t0001g0065 a0001c0001t0002g0011 a0001c0001t0002g0036 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0175	26	254	0.1024	-39	c.-16 others(58): Show c.-164+3009_-164+3047delTCTCCTGACCTCGTGATCCGCCCACC TTGGCCTCCCAGA		CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757383	AAAAGAAG others(32): Show AAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG01168.hp2 others(2): Show HG00280.hp1 HG00544.hp1 HG01168.hp2 HG01169.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0103 a0001c0001t0001g0187 a0001c0001t0001g0193 others(2): Show a0001c0001t0001g0103 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0223 a0001c0003t0003g0016	5	254	0.0197	-39	c.131 others(58): Show c.131-14023_131-13985delGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAA		CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757490	GAAAGAAA others(32): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01515.hp2 HG01517.hp2 HG00597.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0077 a0001c0001t0004g0002 a0001c0001t0004g0006 a0001c0001t0001g0077 a0001c0001t0004g0002 a0001c0001t0004g0006	3	254	0.0118	-39	c.131 others(58): Show c.131-13920_131-13882delAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAGAAAGAAA		CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHSY1_chr15_101170727_101257048	101223517	ATCTACTA others(32): Show ATCTACTACAGAGTACTTCCACACTGGGACTCAGGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0265 a0001c0004t0003g0265	1	422	0.0024	-39	c.816 others(58): Show c.816+11526_816+11564delCGAGGCCTGAGTCCCAGTGTGGAAGT ACTCTGTAGTAGA		CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	2/2						chr15	TogoVar
CHSY1_chr15_101170727_101257048	101223530	TACTTCCA others(32): Show TACTTCCACACTGGGACTCAGGCCTCGTCTACTACAGAGG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0291 a0001c0003t0020g0291	1	422	0.0024	-39	c.816 others(58): Show c.816+11513_816+11551delCCTCTGTAGTAGACGAGGCCTGAGTC CCAGTGTGGAAGT		CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	2/2						chr15	TogoVar
CHSY1_chr15_101170727_101257048	101223722	GAGGACTT others(32): Show GAGGACTTCCACACTGGGACTCAGGCCTCGTCTACTACAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp1 HG00639.hp1 others(84): Show HG00323.hp1 HG00597.hp1 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02109.hp2 HG02135.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18968.hp2 NA18974.hp1 NA19009.hp1 NA19012.hp1 NA19043.hp2 NA19057.hp2 NA19068.hp1 NA19086.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0004 a0001c0005 others(11): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009 a0001c0013 a0001c0019 a0001c0023 a0001c0025 a0001c0031 a0001c0032 a0002c0002 a0005c0010 a0005c0012 a0007c0030	a0001c0001t0017 a0001c0001t0030 a0001c0001t0062 others(26): Show a0001c0001t0017 a0001c0001t0030 a0001c0001t0062 a0001c0001t0063 a0001c0004t0003 a0001c0004t0014 a0001c0004t0019 a0001c0004t0036 a0001c0004t0037 a0001c0004t0052 a0001c0005t0001 a0001c0005t0011 a0001c0005t0022 a0001c0005t0042 a0001c0009t0003 a0001c0009t0066 a0001c0013t0009 a0001c0013t0021 a0001c0013t0023 a0001c0019t0008 a0001c0023t0017 a0001c0025t0017 a0001c0031t0019 a0001c0032t0003 a0002c0002t0002 a0005c0010t0001 a0005c0010t0055 a0005c0012t0003 a0007c0030t0003	a0001c0001t0017g0369 a0001c0001t0017g0371 a0001c0001t0030g0365 others(80): Show a0001c0001t0017g0369 a0001c0001t0017g0371 a0001c0001t0030g0365 a0001c0001t0030g0366 a0001c0001t0062g0370 a0001c0001t0063g0374 a0001c0004t0003g0020 a0001c0004t0003g0021 a0001c0004t0003g0247 a0001c0004t0003g0248 a0001c0004t0003g0249 a0001c0004t0003g0251 a0001c0004t0003g0252 a0001c0004t0003g0253 a0001c0004t0003g0254 a0001c0004t0003g0256 a0001c0004t0003g0257 a0001c0004t0003g0258 a0001c0004t0003g0259 a0001c0004t0003g0260 a0001c0004t0003g0261 a0001c0004t0003g0262 a0001c0004t0003g0264 a0001c0004t0003g0269 a0001c0004t0003g0270 a0001c0004t0003g0271 a0001c0004t0003g0272 a0001c0004t0003g0274 a0001c0004t0003g0275 a0001c0004t0003g0276 a0001c0004t0003g0278 a0001c0004t0003g0280 a0001c0004t0003g0282 a0001c0004t0003g0283 a0001c0004t0003g0286 a0001c0004t0003g0287 a0001c0004t0003g0289 a0001c0004t0014g0309 a0001c0004t0014g0310 a0001c0004t0014g0311 a0001c0004t0014g0312 a0001c0004t0019g0273 a0001c0004t0036g0027 a0001c0004t0037g0028 a0001c0004t0052g0300 a0001c0005t0001g0200 a0001c0005t0011g0326 a0001c0005t0011g0327 a0001c0005t0011g0328 a0001c0005t0011g0329 a0001c0005t0022g0005 a0001c0005t0042g0056 a0001c0009t0003g0226 a0001c0009t0003g0227 a0001c0009t0003g0228 a0001c0009t0003g0229 a0001c0009t0003g0230 a0001c0009t0003g0231 a0001c0009t0003g0232 a0001c0009t0066g0393 a0001c0013t0009g0301 a0001c0013t0009g0302 a0001c0013t0021g0313 a0001c0013t0023g0029 a0001c0013t0023g0030 a0001c0019t0008g0075 a0001c0019t0008g0076 a0001c0023t0017g0373 a0001c0025t0017g0372 a0001c0031t0019g0279 a0001c0032t0003g0290 a0002c0002t0002g0101 a0005c0010t0001g0094 a0005c0010t0001g0151 a0005c0010t0001g0152 a0005c0010t0001g0183 a0005c0010t0055g0321 a0005c0012t0003g0022 a0005c0012t0003g0246 a0005c0012t0003g0250 a0005c0012t0003g0266 a0005c0012t0003g0267 a0007c0030t0003g0277	87	422	0.2062	-39	c.816 others(58): Show c.816+11321_816+11359delTTGTAGTAGACGAGGCCTGAGTCCCA GTGTGGAAGTCCT		CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	2/2						chr15	TogoVar
CIB4_chr2_26576205_26646366	26589033	TTCTTCTT others(32): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCCTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp1 HG02897.hp2 others(2): Show HG01496.hp2 HG01891.hp1 HG02897.hp2 HG04204.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0241 a0001c0001t0001g0247 a0002c0003t0002g0038 others(2): Show a0001c0001t0001g0241 a0001c0001t0001g0247 a0002c0003t0002g0038 a0002c0003t0002g0039 a0002c0003t0002g0214	5	344	0.0145	-39	c.329 others(56): Show c.329-5174_329-5136delGGAAGAGGAAGAGGAAGAAGAAGAAGAA GAAGAAGAAGA		CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6						chr2	TogoVar
CIB4_chr2_26576205_26646366	26589069	TTCCTCTT others(32): Show TTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0043 a0002c0002t0002g0043	1	344	0.0029	-39	c.329 others(56): Show c.329-5210_329-5172delGGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAGGA		CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6						chr2	TogoVar
CLEC10A_chr17_7069537_7085251	7078906	ACTAAGTT others(32): Show ACTAAGTTGGAGCCAAGGGCAGGGCTGACGTTGAGTTGGG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0008 a0005c0008t0008	a0005c0008t0008g0057 a0005c0008t0008g0057	1	458	0.0022	-39	c.-73 others(52): Show c.-73-60_-73-22delCCCAACTCAACGTCAGCCCTGCCCTTGGCTCC AACTTAG		CLEC10A	ENSG00000132514.14	transcript	ENST00000416562.7	protein_coding	1/8						chr17	TogoVar
CLPTM1L_chr5_1312752_1350099	1313467	AACAGCCA others(32): Show AACAGCCATGTCCCCCCTGGGTCTGTGCCCAAAGGCAGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	370	0.0027	-39	c.48 others(50): Show c.4863_*4901delGCCTGCCTTTGGGCACAGACCCAGGGGGGACATG GCTGT		CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding					4284		chr5	TogoVar
CLTA_chr9_36185921_36217059	36216427	CCGGGTTC others(32): Show CCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	-39	c.46 others(50): Show c.4654_*4692delCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCG AGTAG		CLTA	ENSG00000122705.18	transcript	ENST00000345519.10	protein_coding					4369		chr9	TogoVar
CLUL1_chr18_591988_655182	626912	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAGGAAAGAAGGAAAGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	414	0.0024	-39	c.424 others(54): Show c.424-181_424-143delAAAGAAAGAAAGAAGGAAAGAAGGAAAGAA GGAAGGAAG		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
CLUL1_chr18_591988_655182	626970	GGAAGGAA others(32): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03927.hp1 HG02572.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0375 a0001c0001t0003g0110 a0001c0001t0001g0375 a0001c0001t0003g0110	2	414	0.0048	-39	c.424 others(53): Show c.424-126_424-88delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAA		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9						chr18	TogoVar
CMIP_chr16_81439808_81716762	81627140	AACTATTT others(32): Show AACTATTTTATGAATGTGTGTGTGTGTGGCCTGTAGGGTG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0254 a0001c0001t0001g0255	2	268	0.0075	-39	c.477 others(56): Show c.477+6227_477+6265delATGTGTGTGTGTGTGGCCTGTAGGGTGA CTATTTTATGA		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	3/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CMTR1_chr6_37428221_37486508	37485309	TTGGCAGG others(32): Show TTGGCAGGGCAGGGCACCCAGGCCTGTCTTCCCTGGAGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0270	1	358	0.0028	-39	c.51 others(50): Show c.5165_*5203delTGGCAGGGCAGGGCACCCAGGCCTGTCTTCCCTG GAGTG		CMTR1	ENSG00000137200.13	transcript	ENST00000373451.9	protein_coding					3802		chr6	TogoVar
CNGA1_chr4_47930977_48021681	47938978	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0153 a0002c0002t0002g0153	1	366	0.0027	-39	c.653 others(56): Show c.653-1188_653-1150delCTTTCTCTTTCTTTCTTTCTTTCTCTTT CTTTCTTTCTT		CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	10/10						chr4	TogoVar
CNNM4_chr2_96755902_96816874	96805284	ACTATAAA others(32): Show ACTATAAACTATAAACTGTAAACTAGGAAACTGTAGTTTC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0092 a0001c0001t0005g0092	1	270	0.0037	-39	c.194 others(58): Show c.1949-3273_1949-3235delTAAACTATAAACTGTAAACTAGGAAA CTGTAGTTTCCTA		CNNM4	ENSG00000158158.12	transcript	ENST00000377075.3	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
CNOT4_chr7_135356795_135515102	135496121	CTCACTCC others(32): Show CTCACTCCGTCACCCAGGCTGGAGTGCAGTGGCGCAATCT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02083.hp1 NA19078.hp2 others(1): Show HG00673.hp2 HG02083.hp1 NA19078.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 others(1): Show a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0003g0362	4	362	0.0111	-39	c.-93 others(58): Show c.-93+13729_-93+13767delAGATTGCGCCACTGCACTCCAGCCTG GGTGACGGAGTGA		CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11						chr7	TogoVar
CNOT6_chr5_180489379_180583358	180531520	GGCTCCTC others(32): Show GGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG01358.hp1 others(1): Show HG00099.hp1 HG00738.hp1 HG01358.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0004 a0001c0001t0018g0005 a0001c0001t0018g0006 others(1): Show a0001c0001t0018g0004 a0001c0001t0018g0005 a0001c0001t0018g0006 a0001c0001t0018g0007	4	334	0.0120	-39	c.112 others(56): Show c.112+2142_112+2180delATCCCAGACGATGGGCGGCCAGGCAGAG ACGCTCCTCAC		CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CNTN4_chr3_2093866_3062959	2228326	TAAAATTA others(32): Show TAAAATTATATAGCATTTAAATTTCATTGTCCATAAATAA	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0072 a0001c0003t0002g0072	1	116	0.0086	-39	c.-14 others(62): Show c.-144-110849_-144-110811delAATTATATAGCATTTAAATTTC ATTGTCCATAAATAAAA		CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2287672	AGAAGAAG others(32): Show AGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02738.hp2 HG02615.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0002 a0001c0001t0004 a0001c0003t0002	a0001c0001t0004g0081 a0001c0003t0002g0072 a0001c0001t0004g0081 a0001c0003t0002g0072	2	116	0.0172	-39	c.-14 others(60): Show c.-144-51485_-144-51447delGGAAGAAGAAGAAGAAGAGGAAGA AGAAGAAGAAGAAGA		CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2287693	GGAAGAAG others(32): Show GGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0015 a0001c0024t0015	a0001c0024t0015g0057 a0001c0024t0015g0057	1	116	0.0086	-39	c.-14 others(60): Show c.-144-51467_-144-51429delGGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGA		CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2287711	GGAAGAAG others(32): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0112 a0001c0002t0007g0112	1	116	0.0086	-39	c.-14 others(60): Show c.-144-51438_-144-51400delAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAG		CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	99890541	CATACATA others(32): Show CATACATATATGATTGAAATAGACATGTGTGTGTGTATAT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG06807.hp2 HG03041.hp1 HG06807.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0012 a0001c0001 a0009c0012	a0001c0001t0001 a0009c0012t0008 a0001c0001t0001 a0009c0012t0008	a0001c0001t0001g0020 a0009c0012t0008g0026 a0001c0001t0001g0020 a0009c0012t0008g0026	2	66	0.0303	-39	c.578 others(58): Show c.578-25494_578-25456delTAGACATGTGTGTGTGTATATATACA TATATGATTGAAA		CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	6/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTNAP2_chr7_146111801_148425998	147976881	TTCAAAAT others(32): Show TTCAAAATTGTTATTTCTATTCAGACTGAATAGTAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0030 a0001c0003t0023g0030	1	40	0.0250	-39	c.225 others(56): Show c.2256-977_2256-939delAAATTGTTATTTCTATTCAGACTGAATA GTAAAAAATCA		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	14/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148330582	GATGGAGT others(32): Show GATGGAGTGGACGGATGAAGTGGACGGATGGAATGGACAC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02976.hp1 HG02886.hp2 HG02976.hp1	a0001 a0001	a0001c0005 a0001c0015 a0001c0005 a0001c0015	a0001c0005t0022 a0001c0015t0001 a0001c0005t0022 a0001c0015t0001	a0001c0005t0022g0032 a0001c0015t0001g0011 a0001c0005t0022g0032 a0001c0015t0001g0011	2	40	0.0500	-39	c.347 others(60): Show c.3476-53052_3476-53014delTGAAGTGGACGGATGGAATGGACA CATGGAGTGGACGGA		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148330877	CTGGATGG others(32): Show CTGGATGGAATGGATGGATGGAATGGACGGATGGAGTGGA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03098.hp1 HG03239.hp2 others(3): Show HG02976.hp2 HG03098.hp1 HG03239.hp2 HG03540.hp2 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013	a0001c0001t0001 a0001c0001t0018 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0018 a0001c0002t0002 a0001c0003t0004 a0001c0003t0020 a0001c0013t0003	a0001c0001t0001g0003 a0001c0001t0018g0001 a0001c0002t0002g0040 others(3): Show a0001c0001t0001g0003 a0001c0001t0018g0001 a0001c0002t0002g0040 a0001c0003t0004g0029 a0001c0003t0020g0017 a0001c0013t0003g0039	6	40	0.1500	-39	c.347 others(60): Show c.3476-52758_3476-52720delTGGATGGAATGGACGGATGGAGTG GATGGATGGAATGGA		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23					INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76522686	CCTTTCTT others(32): Show CCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01109.hp2 HG02257.hp2 others(11): Show HG00673.hp1 HG01109.hp2 HG02257.hp2 HG02602.hp2 HG02970.hp1 HG03139.hp1 HG03540.hp1 HG03579.hp1 NA18944.hp2 NA18994.hp2 NA19060.hp1 NA19082.hp1 NA19088.hp2 NA20752.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0026	a0001c0001 a0002c0002 a0002c0005 others(4): Show a0001c0001 a0002c0002 a0002c0005 a0004c0007 a0004c0010 a0008c0017 a0026c0041	a0001c0001t0003 a0001c0001t0004 a0002c0002t0002 others(6): Show a0001c0001t0003 a0001c0001t0004 a0002c0002t0002 a0002c0002t0028 a0002c0005t0004 a0004c0007t0002 a0004c0010t0002 a0008c0017t0002 a0026c0041t0004	a0001c0001t0003g0254 a0001c0001t0004g0053 a0001c0001t0004g0191 others(11): Show a0001c0001t0003g0254 a0001c0001t0004g0053 a0001c0001t0004g0191 a0002c0002t0002g0128 a0002c0002t0002g0182 a0002c0002t0028g0239 a0002c0005t0004g0104 a0002c0005t0004g0132 a0004c0007t0002g0199 a0004c0010t0002g0085 a0004c0010t0002g0086 a0004c0010t0002g0186 a0008c0017t0002g0214 a0026c0041t0004g0193	14	274	0.0511	-39	c.275 others(56): Show c.2755+434_2755+472delCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTT		CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23					INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124707111	AGGAAGAA others(32): Show AGGAAGAAGAAGAAAGAAGAAGAAGAAGAGGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	64	0.0156	-39	c.207 others(60): Show c.2078-40117_2078-40079delGGAAGAAGAAGAAAGAAGAAGAAG AAGAGGAAGAAGAAG		CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23						chr2	TogoVar
COA1_chr7_43634257_43734523	43691270	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	384	0.0026	-39	c.-39 others(58): Show c.-39+38120_-39+38158delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTT		COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5						chr7	TogoVar
COL18A1_chr21_45400165_45518720	45442778	CGGTCCTG others(32): Show CGGTCCTGGTGTGGGCGGTGGTGGTGCTGGTGTGGGCGGA	C C	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01346.hp2 HG01258.hp2 HG01346.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0110 a0001c0003t0001g0287 a0001c0003t0001g0110 a0001c0003t0001g0287	2	292	0.0069	-39	c.107 others(58): Show c.107-25446_107-25408delTGGTGGTGCTGGTGTGGGCGGAGGTC CTGGTGTGGGCGG		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45497073	CGGGCCTC others(32): Show CGGGCCTCCAGGATTGCCAGGTGAGGGTCCTGGGCTCACA	C C	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG02257.hp1 HG02257.hp1	a0027 a0027	a0027c0070 a0027c0070	a0027c0070t0001 a0027c0070t0001	a0027c0070t0001g0012 a0027c0070t0001g0012	1	292	0.0034	-39	c.260 others(51): Show c.2603_2620+21delGGCCTCCAGGATTGCCAGGTGAGGGTCCTGGGC TCACAG	p.Pro others(13): Show p.Pro869_Gly874del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	31/42	2669/5408	2603/4020	868/1339		INFO_REALIGN_3_PRIME	chr21	TogoVar

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