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
CNTN6_chr3_1088024_1409217	1160344	G G	GTATGTAT others(23): Show GTATGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0110 a0001c0004t0005g0110	1	232	0.0043	30	c.55+ others(47): Show c.55+12284_55+12285insGTATATATATATATATATATATATATAT AT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1160365	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03453.hp1 HG01884.hp2 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0001 a0001c0007t0001 a0001c0005t0001 a0001c0007t0001	a0001c0005t0001g0188 a0001c0007t0001g0133 a0001c0005t0001g0188 a0001c0007t0001g0133	2	232	0.0086	30	c.55+ others(47): Show c.55+12305_55+12306insTATATATATATATATATATATATATACA TA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1245219	T T	TATATATA others(23): Show TATATATAACATATATATATATATATATAAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0005 a0001c0005t0001g0005	1	232	0.0043	30	c.358 others(49): Show c.358+17233_358+17234insACATATATATATATATATATAACATA TATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP1_chr17_42677531_42704993	42680626	G G	GTCAAATG others(23): Show GTCAAATGAGAGGCGGGATCTTATGAGACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	364	0.0028	30	c.-22 others(41): Show c.-2204_-2203insTCAAATGAGAGGCGGGATCTTATGAGACAC	CNTNAP1	ENSG00000108797.12	transcript	ENST00000264638.9	protein_coding		1904		chr17	TogoVar
CNTNAP2_chr7_146111801_148425998	146502226	T T	TATATATG others(23): Show TATATATGTGTGTATATATATATATATATGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp1 HG02486.hp1 others(1): Show HG00735.hp2 HG01891.hp1 HG02486.hp1 HG02630.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0012 a0001c0019 others(1): Show a0001c0001 a0001c0012 a0001c0019 a0004c0014	a0001c0001t0007 a0001c0012t0004 a0001c0019t0006 others(1): Show a0001c0001t0007 a0001c0012t0004 a0001c0019t0006 a0004c0014t0021	a0001c0001t0007g0020 a0001c0012t0004g0026 a0001c0019t0006g0015 others(1): Show a0001c0001t0007g0020 a0001c0012t0004g0026 a0001c0019t0006g0015 a0004c0014t0021g0022	4	40	0.1000	30	c.98- others(49): Show c.98-272039_98-272038insGTGTGTATATATATATATATATGAAT ATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146502228	T T	TATATGTG others(23): Show TATATGTGTGTATATATATATATATATATGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0015 a0002c0017t0015	a0002c0017t0015g0037 a0002c0017t0015g0037	1	40	0.0250	30	c.98- others(49): Show c.98-272039_98-272038insGTGTGTATATATATATATATATATGA ATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146535365	G G	GTATATTA others(23): Show GTATATTATATATGATATAATATATGATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0015 a0002c0017t0015	a0002c0017t0015g0037 a0002c0017t0015g0037	1	40	0.0250	30	c.98- others(49): Show c.98-238864_98-238835dupTGATATAATATATGATATATATATTA TATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147421585	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0004t0003g0035 a0001c0004t0003g0036	2	40	0.0500	30	c.167 others(51): Show c.1670+25834_1670+25835insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147510850	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 NA21309.hp1 HG02896.hp2 HG02897.hp2 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0010 a0001c0004 a0001c0010	a0001c0004t0003 a0001c0010t0002 a0001c0004t0003 a0001c0010t0002	a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0010t0002g0014 a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0010t0002g0014	3	40	0.0750	30	c.177 others(51): Show c.1777+24830_1777+24831insTATATATATATATATATATATATA TATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147583512	A A	ATATATAT others(23): Show ATATATATATATACATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	40	0.0250	30	c.189 others(51): Show c.1897+21267_1897+21268insCATATATATATATATATGTATATA TATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147802794	G G	GGGGAGAG others(23): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	40	0.0250	30	c.209 others(53): Show c.2099-100763_2099-100734dupGGAGAGGGAGAGGGAGAGGGAG AGGGAGAG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147919459	C C	CTTTCTTT others(23): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp1 HG03540.hp2 others(1): Show HG02717.hp1 HG03225.hp1 HG03540.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0006 a0001c0009 others(1): Show a0001c0003 a0001c0006 a0001c0009 a0002c0017	a0001c0003t0004 a0001c0006t0009 a0001c0009t0019 others(1): Show a0001c0003t0004 a0001c0006t0009 a0001c0009t0019 a0002c0017t0015	a0001c0003t0004g0029 a0001c0006t0009g0028 a0001c0009t0019g0027 others(1): Show a0001c0003t0004g0029 a0001c0006t0009g0028 a0001c0009t0019g0027 a0002c0017t0015g0037	4	40	0.1000	30	c.225 others(51): Show c.2255+15741_2255+15742insCTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	41934122	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0024 a0024	a0024c0029 a0024c0029	a0024c0029t0006 a0024c0029t0006	a0024c0029t0006g0087 a0024c0029t0006g0087	1	108	0.0093	30	c.223 others(49): Show c.2237+4121_2237+4122insGTGTATATATATATATATATATATAT ATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	14/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	41934122	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0019 a0019	a0019c0031 a0019c0031	a0019c0031t0028 a0019c0031t0028	a0019c0031t0028g0088 a0019c0031t0028g0088	1	108	0.0093	30	c.223 others(49): Show c.2237+4121_2237+4122insGTATATATATATATATATATATATAT ATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	14/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42090783	C C	CATATGTG others(23): Show CATATGTGTGTGTGTGTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0026 a0026	a0026c0025 a0026c0025	a0026c0025t0019 a0026c0025t0019	a0026c0025t0019g0028 a0026c0025t0019g0028	1	108	0.0093	30	c.197 others(49): Show c.197-13722_197-13721insATATATATATATATACACACACACAC ATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	2/23			chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03209.hp2 HG00438.hp2 HG03209.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0006 a0001c0001t0003 a0003c0003t0006	a0001c0001t0003g0118 a0003c0003t0006g0262 a0001c0001t0003g0118 a0003c0003t0006g0262	2	274	0.0073	30	c.133 others(49): Show c.1334-1182_1334-1181insAAAAAAAAAAAATATATATATATATA TATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	274	0.0037	30	c.133 others(49): Show c.1334-1182_1334-1181insAAAAAAAAAATATATATATATATATA TATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAATATA others(23): Show AAAATATATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0207 a0002c0002t0004g0207	1	274	0.0037	30	c.133 others(49): Show c.1334-1182_1334-1181insAATATATATACATATATATATATATA TATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76470481	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0250 a0001c0001t0010g0250	1	274	0.0037	30	c.165 others(49): Show c.1655+2958_1655+2959insTATATATATATATATATATATATATA TATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23			chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76470482	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp2 NA19062.hp2 others(1): Show HG00735.hp2 HG01192.hp2 NA19062.hp2 NA19091.hp1	a0002 a0006 a0007 a0002 a0006 a0007	a0002c0005 a0006c0009 a0007c0013 a0002c0005 a0006c0009 a0007c0013	a0002c0005t0002 a0006c0009t0003 a0007c0013t0004 a0002c0005t0002 a0006c0009t0003 a0007c0013t0004	a0002c0005t0002g0187 a0002c0005t0002g0188 a0006c0009t0003g0031 others(1): Show a0002c0005t0002g0187 a0002c0005t0002g0188 a0006c0009t0003g0031 a0007c0013t0004g0035	4	274	0.0146	30	c.165 others(49): Show c.1655+2974_1655+2975insTATATATATATATATATATATATATA TATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76470495	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0221 a0005c0008t0001g0221	1	274	0.0037	30	c.165 others(49): Show c.1655+2974_1655+2975insTATATATATATATATATATATATATA TTTA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76522687	C C	CTTTCTTT others(23): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	274	0.0037	30	c.275 others(47): Show c.2755+493_2755+522dupTCTTTTCTTTTCTTTTCTTTTCTTTTCT TT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124703235	C C	CCTCCCTT others(23): Show CCTCCCTTTCTTTCTTCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG03139.hp1 others(1): Show HG01891.hp1 HG02257.hp2 HG03139.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0017 a0001c0002t0002 others(1): Show a0001c0001t0005 a0001c0001t0017 a0001c0002t0002 a0001c0002t0005	a0001c0001t0005g0040 a0001c0001t0017g0012 a0001c0002t0002g0030 others(1): Show a0001c0001t0005g0040 a0001c0001t0017g0012 a0001c0002t0002g0030 a0001c0002t0005g0045	4	64	0.0625	30	c.207 others(51): Show c.2078-43969_2078-43968insTCCTTCTCCCTTTCTTTCTTCTTC CTTCCT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124706795	A A	AAGAAGAA others(23): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGGAGG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	64	0.0156	30	c.207 others(51): Show c.2078-40432_2078-40431insAAGAAGAAGAAGAAGAAGAAGAAG GAGGAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124706893	G G	GGAAGAAG others(23): Show GGAAGAAGGAGAAGGAGAAGAGGAAGAGGAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	64	0.0156	30	c.207 others(51): Show c.2078-40329_2078-40328insGAGAAGGAGAAGAGGAAGAGGAAG AAGAAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124707060	G G	GAGGAGGA others(23): Show GAGGAGGAGGAGGAGAAGGAGGAGGAGGAGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG03139.hp1 HG01891.hp1 HG02257.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0017 a0001c0002t0005 a0001c0001t0005 a0001c0001t0017 a0001c0002t0005	a0001c0001t0005g0040 a0001c0001t0017g0012 a0001c0002t0005g0045 a0001c0001t0005g0040 a0001c0001t0017g0012 a0001c0002t0005g0045	3	64	0.0469	30	c.207 others(51): Show c.2078-40167_2078-40166insGAGGAGGAGGAGAAGGAGGAGGAG GAGAAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COA1_chr7_43634257_43734523	43644817	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0365 a0001c0001t0001g0365	1	384	0.0026	30	c.264 others(45): Show c.264+433_264+434insGTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43664103	A A	AAGAGAGA others(23): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	384	0.0026	30	c.-38 others(49): Show c.-38-15452_-38-15451insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43710375	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02148.hp1 HG01517.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0373 a0001c0001t0001g0376 a0001c0001t0001g0373 a0001c0001t0001g0376	2	384	0.0052	30	c.-39 others(49): Show c.-39+19053_-39+19054insATATATATATATATATATATATATTT TTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA6_chr1_234368456_234390080	234383064	G G	GAGGGAGG others(23): Show GAGGGAGGGAGGGAGGGAGGGAAGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01358.hp2 HG02896.hp2 others(1): Show HG01069.hp2 HG01358.hp2 HG02896.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 others(1): Show a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0123	4	406	0.0099	30	c.373 others(45): Show c.373-654_373-653insGGGAGGGAGGGAGGGAAGGAAGGGAAGGGA	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
COBLL1_chr2_164675188_164846823	164803582	T T	TAAATAAA others(23): Show TAAATAAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18906.hp1 HG03209.hp1 NA18906.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0025 a0008c0011t0025	a0008c0011t0025g0011 a0008c0011t0025g0012 a0008c0011t0025g0011 a0008c0011t0025g0012	2	212	0.0094	30	c.41+ others(47): Show c.41+37573_41+37574insTATTTTATTTTATTTTATTTTATTTTAT TT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805328	T T	TATATATA others(23): Show TATATATATATATTTATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	212	0.0047	30	c.41+ others(47): Show c.41+35827_41+35828insTTATATATATATATATAAATATATATAT AT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805332	T T	TATATAAA others(23): Show TATATAAATATATATAAATATATATGTATAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02922.hp2 HG02965.hp1 HG02615.hp1 HG02922.hp2 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0046 a0001c0002t0010 a0001c0002t0046	a0001c0002t0010g0017 a0001c0002t0010g0018 a0001c0002t0046g0016 a0001c0002t0010g0017 a0001c0002t0010g0018 a0001c0002t0046g0016	3	212	0.0142	30	c.41+ others(47): Show c.41+35823_41+35824insTTATACATATATATTTATATATATTTAT AT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51070392	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03710.hp1 NA19010.hp1 others(1): Show HG03704.hp2 HG03710.hp1 NA19010.hp1 NA19055.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0004 a0003c0001 a0009c0012 a0001c0004 a0003c0001 a0009c0012	a0001c0004t0001 a0003c0001t0001 a0009c0012t0001 a0001c0004t0001 a0003c0001t0001 a0009c0012t0001	a0001c0004t0001g0197 a0003c0001t0001g0203 a0009c0012t0001g0194 others(1): Show a0001c0004t0001g0197 a0003c0001t0001g0203 a0009c0012t0001g0194 a0009c0012t0001g0208	4	230	0.0174	30	c.109 others(51): Show c.1096+14744_1096+14773dupGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51098224	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA18906.hp2 NA18945.hp1 others(1): Show HG01255.hp1 NA18906.hp2 NA18945.hp1 NA18960.hp1	a0003 a0005 a0012 a0003 a0005 a0012	a0003c0001 a0005c0006 a0012c0024 a0003c0001 a0005c0006 a0012c0024	a0003c0001t0002 a0005c0006t0003 a0012c0024t0016 a0003c0001t0002 a0005c0006t0003 a0012c0024t0016	a0003c0001t0002g0054 a0005c0006t0003g0036 a0005c0006t0003g0196 others(1): Show a0003c0001t0002g0054 a0005c0006t0003g0036 a0005c0006t0003g0196 a0012c0024t0016g0229	4	230	0.0174	30	c.958 others(49): Show c.958-12921_958-12920insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COCH_chr14_30869559_30895618	30882120	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0394 a0002c0002t0001g0394	1	478	0.0021	30	c.629 others(47): Show c.629+1413_629+1414insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	COCH	ENSG00000100473.18	transcript	ENST00000396618.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
COG3_chr13_45459939_45541701	45486339	C C	CGGGAGAG others(23): Show CGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01261.hp2 NA19003.hp1 HG01099.hp2 HG01261.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0096 a0001c0001t0001g0130 a0001c0001t0001g0044 a0001c0001t0001g0096 a0001c0001t0001g0130	3	342	0.0088	30	c.844 others(45): Show c.844-155_844-126dupGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45513185	A A	ATATATAT others(23): Show ATATATATATATATAATATATACATATAAAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0012 a0002c0005t0012	a0002c0005t0012g0148 a0002c0005t0012g0148	1	342	0.0029	30	c.180 others(49): Show c.1809+1344_1809+1373dupTAATATATACATATAAATTATATATA TATA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45513217	A A	ATATATAT others(23): Show ATATATATATATATAATATATACATATAAAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0011 a0002c0005t0011	a0002c0005t0011g0150 a0002c0005t0011g0150	1	342	0.0029	30	c.180 others(49): Show c.1809+1373_1809+1374insTATAATATATACATATAAATTATATA TATA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL11A1_chr1_102871473_103113522	102878475	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0154 a0002c0001t0001g0154	1	184	0.0054	30	c.527 others(47): Show c.5275-311_5275-310insATATATATATATATATATATATATATAT AT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	66/66			chr1	TogoVar
COL12A1_chr6_75079326_75211053	75208156	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	206	0.0049	30	c.-24 others(41): Show c.-2416_-2415insAAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2104		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208160	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	206	0.0049	30	c.-24 others(41): Show c.-2420_-2419insAAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2108		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208164	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0014 a0014	a0014c0025 a0014c0025	a0014c0025t0001 a0014c0025t0001	a0014c0025t0001g0069 a0014c0025t0001g0069	1	206	0.0049	30	c.-24 others(41): Show c.-2424_-2423insAAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2112		chr6	TogoVar
COL13A1_chr10_69796906_69964144	69855778	G G	GGGGAGGG others(23): Show GGGGAGGGATGCAAGAGGGAGGGATGCAAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(82): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01516.hp1 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp2 HG02630.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18973.hp2 NA18977.hp2 NA18980.hp1 NA18982.hp2 NA18994.hp1 NA19000.hp1 NA19002.hp2 NA19009.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19074.hp2 NA19091.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0009	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0017 a0001c0019 a0002c0008 a0003c0014 a0003c0023 a0005c0012 a0007c0021 a0009c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0007t0001 a0001c0009t0005 a0001c0017t0001 a0001c0019t0001 a0002c0008t0001 a0003c0014t0002 a0003c0023t0004 a0005c0012t0002 a0007c0021t0001 a0009c0027t0002	a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0040 others(82): Show a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0002g0017 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0070 a0001c0001t0002g0087 a0001c0001t0002g0102 a0001c0001t0002g0144 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0013g0068 a0001c0002t0001g0161 a0001c0002t0001g0177 a0001c0002t0001g0212 a0001c0002t0001g0218 a0001c0002t0001g0221 a0001c0002t0001g0249 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0002g0158 a0001c0002t0002g0229 a0001c0002t0003g0259 a0001c0002t0003g0268 a0001c0002t0003g0313 a0001c0002t0003g0315 a0001c0002t0003g0316 a0001c0002t0003g0320 a0001c0002t0004g0293 a0001c0002t0004g0300 a0001c0002t0004g0310 a0001c0002t0006g0287 a0001c0002t0008g0319 a0001c0002t0009g0209 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0018 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0066 a0001c0003t0002g0109 a0001c0003t0002g0133 a0001c0004t0001g0217 a0001c0004t0002g0163 a0001c0004t0002g0276 a0001c0004t0005g0244 a0001c0004t0005g0248 a0001c0007t0001g0208 a0001c0009t0005g0239 a0001c0017t0001g0027 a0001c0019t0001g0032 a0002c0008t0001g0148 a0003c0014t0002g0028 a0003c0023t0004g0312 a0005c0012t0002g0089 a0007c0021t0001g0024 a0009c0027t0002g0189	85	324	0.2624	30	c.365 others(49): Show c.365-11991_365-11990insAGGGAGGGATGCAAGAGGGAGGGATG CAAG	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	2/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69949931	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTTTGTGTGTGC	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0098 a0001c0003t0002g0098	1	324	0.0031	30	c.205 others(49): Show c.2058+2606_2058+2607insTGTTTGTGTGTGCGTGTGTGTGTGTG TGTG	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	38/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69949933	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGCGTGTGTTTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0223 a0001c0002t0001g0224	2	324	0.0062	30	c.205 others(49): Show c.2058+2604_2058+2605insCGTGTGTTTGTGTGTGCGTGTGTGTG TGTG	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	38/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69949967	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGCATGTGTTTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 NA18942.hp2 others(3): Show HG00323.hp2 HG00544.hp2 NA18942.hp2 NA18949.hp1 NA18954.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0019 a0001c0001 a0001c0002 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0019t0001	a0001c0001t0001g0094 a0001c0001t0002g0034 a0001c0002t0002g0285 others(3): Show a0001c0001t0001g0094 a0001c0001t0002g0034 a0001c0002t0002g0285 a0001c0002t0003g0247 a0001c0002t0004g0298 a0001c0019t0001g0032	6	324	0.0185	30	c.205 others(49): Show c.2058+2638_2058+2639insCATGTGTTTGTGTGTGCGTGTGTGTG TGTG	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	38/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL14A1_chr8_120120102_120378573	120138114	C C	CTCTATCA others(23): Show CTCTATCAATATATCTATATACCGATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00140.hp1 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0173 a0001c0001t0002g0186 a0001c0001t0001g0173 a0001c0001t0002g0186	2	218	0.0092	30	c.-37 others(47): Show c.-37-9669_-37-9640dupGATATATATCTATCAATATATCTATATA CC	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL14A1_chr8_120120102_120378573	120166875	A A	AGTGTGTG others(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	218	0.0046	30	c.350 others(47): Show c.350-1268_350-1239dupTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL14A1_chr8_120120102_120378573	120200048	A A	AGCATATA others(23): Show AGCATATATATATGCATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0007 a0003c0010t0007	a0003c0010t0007g0073 a0003c0010t0007g0073	1	218	0.0046	30	c.877 others(45): Show c.877+494_877+495insGCATATATATATATATATGCATATATATAT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	8/47		INFO_REALIGN_3_PRIME	chr8	TogoVar

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