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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CNTN6_chr3_1088024_1409217	1332526	G G	GGAAGGAA others(16): Show GGAAGGAAGGGGCGAGCAAGGAAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02486.hp1 HG03654.hp2 others(1): Show HG02015.hp1 HG02486.hp1 HG03654.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001	a0001c0001t0001g0093 a0001c0002t0001g0018 a0001c0002t0003g0079 others(1): Show a0001c0001t0001g0093 a0001c0002t0001g0018 a0001c0002t0003g0079 a0001c0003t0001g0101	4	232	0.0172	23	c.136 others(42): Show c.1364+2597_1364+2598insAGGGGCGAGCAAGGAATGAAGGA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146285848	C C	CCTTCCCC others(16): Show CCTTCCCCTCCCCTCGCCTCCTCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02897.hp1 HG02922.hp1 others(7): Show HG02451.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03225.hp1 HG03225.hp2 NA18522.hp1 NA19030.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0010 a0001c0013 a0001c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0002t0001 a0001c0003t0023 a0001c0004t0005 a0001c0009t0019 a0001c0010t0002 a0001c0013t0003 a0001c0018t0002	a0001c0001t0001g0038 a0001c0001t0002g0006 a0001c0001t0012g0034 others(7): Show a0001c0001t0001g0038 a0001c0001t0002g0006 a0001c0001t0012g0034 a0001c0002t0001g0008 a0001c0003t0023g0030 a0001c0004t0005g0004 a0001c0009t0019g0027 a0001c0010t0002g0014 a0001c0013t0003g0039 a0001c0018t0002g0012	10	40	0.2500	23	c.97+ others(42): Show c.97+168876_97+168877insTTCCCCTCCCCTCGCCTCCTCTC	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146426185	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0006 a0001c0019t0006	a0001c0019t0006g0015 a0001c0019t0006g0015	1	40	0.0250	23	c.97+ others(42): Show c.97+309215_97+309237dupAAAAAAAAAAAAAAAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146721889	A A	ATATATTT others(16): Show ATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	40	0.0250	23	c.98- others(40): Show c.98-52381_98-52380insATATTTTTTTTTTTTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147919459	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0010 a0001c0003t0013g0010	1	40	0.0250	23	c.225 others(44): Show c.2255+15741_2255+15742insCTTTCTTTTTTTTTTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148351744	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0014 a0001c0010t0002g0014	1	40	0.0250	23	c.347 others(44): Show c.3476-31889_3476-31888insAAAAAAAAAAAAAAAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148369359	T T	TGGCTAAT others(16): Show TGGCTAATTTGTGCCACTACACCC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0019 a0001c0009t0019	a0001c0009t0019g0027 a0001c0009t0019g0027	1	40	0.0250	23	c.347 others(44): Show c.3476-14267_3476-14245dupCGGCTAATTTGTGCCACTACACC	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148405420	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	40	0.0250	23	c.371 others(42): Show c.3716-3967_3716-3945dupTTTTTTTTTTTTTTTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP3_chr9_39059710_39293167	39101461	T T	TAGCAAAA others(16): Show TAGCAAAATATATTTTTCCCAAGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02109.hp1 HG02109.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0004 a0001c0001t0003 a0002c0003t0004	a0001c0001t0003g0002 a0002c0003t0004g0001 a0001c0001t0003g0002 a0002c0003t0004g0001	2	4	0.5000	23	c.275 others(42): Show c.2755+1035_2755+1036insCCTTGGGAAAAATATATTTTGCT	CNTNAP3	ENSG00000106714.18	transcript	ENST00000297668.11	protein_coding	17/23			chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76373121	T T	TATAAATA others(16): Show TATAAATAGGTGAATATATTCCAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02630.hp1 HG02647.hp2 others(3): Show HG01433.hp1 HG02630.hp1 HG02647.hp2 HG02895.hp2 NA19030.hp1 NA19240.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0002c0014 a0003c0006 others(2): Show a0002c0002 a0002c0014 a0003c0006 a0003c0028 a0004c0007	a0002c0002t0004 a0002c0014t0013 a0003c0006t0021 others(3): Show a0002c0002t0004 a0002c0014t0013 a0003c0006t0021 a0003c0028t0005 a0004c0007t0002 a0004c0007t0004	a0002c0002t0004g0207 a0002c0014t0013g0263 a0003c0006t0021g0001 others(3): Show a0002c0002t0004g0207 a0002c0014t0013g0263 a0003c0006t0021g0001 a0003c0028t0005g0274 a0004c0007t0002g0002 a0004c0007t0004g0055	6	274	0.0219	23	c.390 others(42): Show c.390+17729_390+17751dupAATAGGTGAATATATTCCACATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	274	0.0037	23	c.133 others(42): Show c.1334-1182_1334-1181insAAAAAAAAAAAAATATATATATA	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(16): Show AAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18970.hp2 HG03579.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0256 a0001c0001t0004g0053 a0001c0001t0003g0256 a0001c0001t0004g0053	2	274	0.0073	23	c.133 others(42): Show c.1334-1182_1334-1181insAAAAAAAAAAATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124057448	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02293.hp1 HG02723.hp1 others(2): Show HG01070.hp1 HG02293.hp1 HG02723.hp1 HG03225.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0002t0016	a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0002t0001g0054 others(2): Show a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0002t0001g0054 a0001c0002t0003g0056 a0001c0002t0016g0055	5	64	0.0781	23	c.82+ others(40): Show c.82+31717_82+31739dupTTTTTTTTTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124541179	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03704.hp2 homoSapiens_chm13v2.hp1 HG03486.hp1 HG03704.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0026 a0001c0001t0001g0043 a0001c0002t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0043 a0001c0002t0001g0016	3	64	0.0469	23	c.164 others(44): Show c.1649+13740_1649+13741insTTTTTTTTTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COA1_chr7_43634257_43734523	43664103	A A	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01884.hp1 HG02976.hp1 others(2): Show HG01106.hp2 HG01884.hp1 HG02976.hp1 HG03098.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0067 a0001c0001t0001g0118 others(2): Show a0001c0001t0001g0034 a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0001g0147 a0001c0001t0001g0153	5	384	0.0130	23	c.-38 others(42): Show c.-38-15452_-38-15451insCTCTCTCTCTCTCTCTCTCTCTC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691265	A A	AAAAGAAA others(16): Show AAAAGAAAAGAAAAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	384	0.0026	23	c.-39 others(42): Show c.-39+38163_-39+38164insCTTTCTTTTCTTTTCTTTTCTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA6_chr1_234368456_234390080	234370412	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01255.hp2 HG01358.hp1 others(2): Show HG01099.hp2 HG01255.hp2 HG01358.hp1 HG01516.hp2 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0113 a0002c0002t0001g0016 a0002c0002t0001g0171 a0001c0001t0001g0113 a0002c0002t0001g0016 a0002c0002t0001g0171	5	406	0.0123	23	c.-30 others(34): Show c.-3055_-3054insTTTTTTTTTTTTTTTTTTTTTTT	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding		3043		chr1	TogoVar
COBLL1_chr2_164675188_164846823	164801438	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0178 a0001c0002t0010g0178	1	212	0.0047	23	c.41+ others(40): Show c.41+39695_41+39717dupTTTTTTTTTTTTTTTTTTTTTTT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51098224	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0001 a0007c0020t0001	a0007c0020t0001g0168 a0007c0020t0001g0168	1	230	0.0044	23	c.958 others(42): Show c.958-12921_958-12920insAAAAAAAAAAAAAAAAAAAAAAA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COCH_chr14_30869559_30895618	30882120	G G	GTTTTTTT others(16): Show GTTTTTTTTTTGTTTGTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0002 a0009c0012t0002	a0009c0012t0002g0159 a0009c0012t0002g0159	1	478	0.0021	23	c.629 others(40): Show c.629+1396_629+1397insGTTTGTTTGTTTTTTTTTTTTTT	COCH	ENSG00000100473.18	transcript	ENST00000396618.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
COCH_chr14_30869559_30895618	30882120	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	478	0.0021	23	c.629 others(40): Show c.629+1399_629+1400insGTTTTGTTTTTTTTTTTTTTTTT	COCH	ENSG00000100473.18	transcript	ENST00000396618.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
COCH_chr14_30869559_30895618	30895053	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	478	0.0021	23	c.52 others(34): Show c.5262_*5263insAAAAAAAAAAAAAAAAAAAAAAA	COCH	ENSG00000100473.18	transcript	ENST00000396618.9	protein_coding		4436		chr14	TogoVar
COG3_chr13_45459939_45541701	45486338	A A	AGGGAGAG others(16): Show AGGGAGAGGGAGAGGGAGAGGGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02622.hp2 HG03669.hp2 others(4): Show HG01243.hp2 HG02622.hp2 HG03669.hp2 NA18951.hp2 NA18966.hp1 NA18985.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0091 a0001c0001t0001g0107 others(4): Show a0001c0001t0001g0076 a0001c0001t0001g0091 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0133 a0001c0001t0001g0137	7	342	0.0205	23	c.844 others(38): Show c.844-157_844-156insGGGAGAGGGAGAGGGAGAGGGAG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22			chr13	TogoVar
COG6_chr13_39650662_39757628	39684243	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0324 a0002c0002t0002g0324	1	370	0.0027	23	c.788 others(40): Show c.788+1982_788+2004dupTTTTTTTTTTTTTTTTTTTTTTT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39730773	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	370	0.0027	23	c.182 others(42): Show c.1826+3229_1826+3251dupAAAAAAAAAAAAAAAAAAAAAAA	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG7_chr16_23383493_23458189	23408121	A A	AGGGGCGA others(16): Show AGGGGCGAGTGGGGCGGGAGGCAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp2 HG01346.hp2 others(39): Show HG00639.hp1 HG01106.hp2 HG01346.hp2 HG02155.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03688.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04204.hp1 NA18522.hp2 NA18906.hp1 NA18948.hp2 NA18952.hp1 NA18959.hp2 NA18966.hp1 NA18968.hp2 NA18986.hp1 NA19007.hp2 NA19012.hp1 NA19043.hp1 NA19057.hp1 NA19068.hp2 NA19081.hp2 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0008 a0006c0006 a0001c0001 a0001c0008 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0008t0001 a0006c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0015 others(32): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0144 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0002g0004 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0008t0001g0223 a0006c0006t0001g0210	42	272	0.1544	23	c.147 others(42): Show c.1476-1882_1476-1860dupCTGCCTCCCGCCCCACTCGCCCC	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	11/16			chr16	TogoVar
COG7_chr16_23383493_23458189	23408195	C C	CGAGTGTG others(16): Show CGAGTGTGGCGGGAGGCAGTGGGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02280.hp2 HG02572.hp1 others(9): Show HG01099.hp1 HG02280.hp2 HG02572.hp1 HG02647.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03098.hp1 HG03471.hp1 HG03579.hp2 HG03834.hp2 NA18522.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0011 a0001c0001 a0002c0002 a0004c0011	a0001c0001t0002 a0002c0002t0003 a0004c0011t0007 a0001c0001t0002 a0002c0002t0003 a0004c0011t0007	a0001c0001t0002g0005 a0001c0001t0002g0018 a0001c0001t0002g0023 others(8): Show a0001c0001t0002g0005 a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0002c0002t0003g0117 a0004c0011t0007g0016	12	272	0.0441	23	c.147 others(42): Show c.1476-1934_1476-1933insTCCCACTGCCTCCCGCCACACTC	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	11/16			chr16	TogoVar
COG7_chr16_23383493_23458189	23408247	T T	TGGCGGGA others(16): Show TGGCGGGAGGCAGGGGGCGAGTGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0250 a0001c0003t0007g0250	1	272	0.0037	23	c.147 others(42): Show c.1476-2008_1476-1986dupCCACTCGCCCCCTGCCTCCCGCC	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	11/16			chr16	TogoVar
COL11A1_chr1_102871473_103113522	102976289	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02300.hp2 HG03704.hp1 HG00639.hp2 HG02300.hp2 HG03704.hp1	a0003 a0011 a0003 a0011	a0003c0011 a0011c0037 a0003c0011 a0011c0037	a0003c0011t0001 a0011c0037t0001 a0003c0011t0001 a0011c0037t0001	a0003c0011t0001g0060 a0003c0011t0001g0105 a0011c0037t0001g0103 a0003c0011t0001g0060 a0003c0011t0001g0105 a0011c0037t0001g0103	3	184	0.0163	23	c.275 others(42): Show c.2755-1429_2755-1407dupAAAAAAAAAAAAAAAAAAAAAAA	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	35/66			chr1	TogoVar
COL12A1_chr6_75079326_75211053	75208156	C C	CTCTCTCT others(16): Show CTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	206	0.0049	23	c.-24 others(34): Show c.-2416_-2415insAGAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2104		chr6	TogoVar
COL15A1_chr9_98938907_99075787	98943824	T T	TGCGCCGC others(16): Show TGCGCCGCCGCTGCCCGAGGTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00558.hp1 others(77): Show HG00280.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02738.hp2 HG02895.hp2 HG03017.hp1 HG03017.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp2 NA18942.hp2 NA18944.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18960.hp2 NA18967.hp2 NA18981.hp2 NA18991.hp2 NA18992.hp1 NA18998.hp1 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19064.hp1 NA19066.hp1 NA19078.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(23): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0021 a0023 a0025 a0026 a0027 a0031 a0043 a0046 a0049	a0001c0001 a0001c0013 a0002c0002 others(29): Show a0001c0001 a0001c0013 a0002c0002 a0002c0003 a0003c0004 a0003c0006 a0003c0036 a0004c0005 a0005c0015 a0005c0019 a0006c0078 a0007c0008 a0008c0009 a0009c0011 a0010c0012 a0011c0016 a0012c0014 a0014c0020 a0014c0049 a0015c0018 a0016c0022 a0017c0021 a0018c0023 a0021c0025 a0023c0027 a0025c0032 a0026c0053 a0027c0035 a0031c0041 a0043c0052 a0046c0079 a0049c0071	a0001c0001t0002 a0001c0001t0003 a0001c0013t0001 others(32): Show a0001c0001t0002 a0001c0001t0003 a0001c0013t0001 a0002c0002t0001 a0002c0003t0002 a0003c0004t0002 a0003c0004t0003 a0003c0006t0001 a0003c0036t0001 a0004c0005t0001 a0005c0015t0001 a0005c0019t0003 a0006c0078t0001 a0007c0008t0002 a0008c0009t0002 a0009c0011t0003 a0010c0012t0002 a0010c0012t0005 a0011c0016t0001 a0012c0014t0002 a0014c0020t0001 a0014c0049t0001 a0015c0018t0001 a0016c0022t0001 a0017c0021t0001 a0018c0023t0002 a0021c0025t0003 a0023c0027t0002 a0025c0032t0002 a0026c0053t0001 a0027c0035t0003 a0031c0041t0001 a0043c0052t0002 a0046c0079t0004 a0049c0071t0001	a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0253 others(77): Show a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0265 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0308 a0001c0001t0003g0234 a0001c0013t0001g0257 a0002c0002t0001g0235 a0002c0002t0001g0245 a0002c0002t0001g0281 a0002c0002t0001g0302 a0002c0002t0001g0305 a0002c0003t0002g0236 a0002c0003t0002g0241 a0003c0004t0002g0256 a0003c0004t0002g0270 a0003c0004t0002g0271 a0003c0004t0002g0272 a0003c0004t0002g0275 a0003c0004t0002g0284 a0003c0004t0002g0299 a0003c0004t0002g0303 a0003c0004t0003g0263 a0003c0006t0001g0264 a0003c0006t0001g0269 a0003c0006t0001g0279 a0003c0006t0001g0298 a0003c0036t0001g0274 a0004c0005t0001g0261 a0004c0005t0001g0276 a0004c0005t0001g0295 a0004c0005t0001g0307 a0005c0015t0001g0273 a0005c0015t0001g0290 a0005c0019t0003g0289 a0006c0078t0001g0231 a0007c0008t0002g0238 a0007c0008t0002g0239 a0007c0008t0002g0240 a0007c0008t0002g0244 a0007c0008t0002g0247 a0007c0008t0002g0262 a0007c0008t0002g0268 a0007c0008t0002g0293 a0007c0008t0002g0306 a0008c0009t0002g0237 a0008c0009t0002g0258 a0008c0009t0002g0285 a0008c0009t0002g0297 a0009c0011t0003g0246 a0010c0012t0002g0277 a0010c0012t0005g0304 a0011c0016t0001g0309 a0012c0014t0002g0229 a0012c0014t0002g0250 a0012c0014t0002g0280 a0014c0020t0001g0294 a0014c0049t0001g0300 a0015c0018t0001g0252 a0015c0018t0001g0282 a0016c0022t0001g0301 a0017c0021t0001g0230 a0017c0021t0001g0232 a0018c0023t0002g0248 a0018c0023t0002g0266 a0018c0023t0002g0267 a0021c0025t0003g0255 a0023c0027t0002g0233 a0025c0032t0002g0243 a0025c0032t0002g0260 a0026c0053t0001g0291 a0027c0035t0003g0286 a0027c0035t0003g0296 a0031c0041t0001g0292 a0043c0052t0002g0259 a0046c0079t0004g0283 a0049c0071t0001g0278	80	310	0.2581	23	c.-23 others(32): Show c.-238_-237insGCGCCGCCGCTGCCCGAGGTGGG	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding		82		chr9	TogoVar
COL15A1_chr9_98938907_99075787	99024268	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0047 a0047	a0047c0070 a0047c0070	a0047c0070t0011 a0047c0070t0011	a0047c0070t0011g0169 a0047c0070t0011g0169	1	310	0.0032	23	c.185 others(40): Show c.1855-598_1855-597insTTTTTTTTTTTTTTTTTTTTTTT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	14/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL15A1_chr9_98938907_99075787	99066599	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02129.hp1 HG02273.hp1 others(2): Show HG02071.hp1 HG02129.hp1 HG02273.hp1 HG04199.hp2 NA18747.hp1	a0002 a0003 a0008 others(2): Show a0002 a0003 a0008 a0009 a0014	a0002c0002 a0003c0004 a0008c0009 others(2): Show a0002c0002 a0003c0004 a0008c0009 a0009c0011 a0014c0020	a0002c0002t0001 a0003c0004t0001 a0008c0009t0001 others(2): Show a0002c0002t0001 a0003c0004t0001 a0008c0009t0001 a0009c0011t0001 a0014c0020t0001	a0002c0002t0001g0310 a0003c0004t0001g0030 a0008c0009t0001g0208 others(2): Show a0002c0002t0001g0310 a0003c0004t0001g0030 a0008c0009t0001g0208 a0009c0011t0001g0103 a0014c0020t0001g0129	5	310	0.0161	23	c.365 others(40): Show c.3652-280_3652-258dupTTTTTTTTTTTTTTTTTTTTTTT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	39/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL16A1_chr1_31647263_31709017	31707385	T T	TTTTCTTT others(16): Show TTTTCTTTTCTTTTATTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0066 a0002c0004t0001g0066	1	342	0.0029	23	c.-35 others(34): Show c.-3584_-3583insGAAAGAAAATAAAAGAAAAGAAA	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		3369		chr1	TogoVar
COL16A1_chr1_31647263_31709017	31707385	T T	TTTTCTTT others(16): Show TTTTCTTTTCTTTTCTTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00738.hp2 HG01069.hp1 others(7): Show HG00423.hp1 HG00738.hp2 HG01069.hp1 HG02683.hp2 HG03225.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 NA18991.hp1 NA19005.hp2	a0002 a0006 a0009 others(1): Show a0002 a0006 a0009 a0015	a0002c0002 a0002c0004 a0006c0013 others(2): Show a0002c0002 a0002c0004 a0006c0013 a0009c0027 a0015c0031	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0006c0013t0002 a0009c0027t0001 a0015c0031t0001	a0002c0002t0001g0059 a0002c0002t0002g0006 a0002c0002t0002g0055 others(7): Show a0002c0002t0001g0059 a0002c0002t0002g0006 a0002c0002t0002g0055 a0002c0002t0002g0057 a0002c0002t0002g0075 a0002c0004t0001g0047 a0006c0013t0002g0060 a0006c0013t0002g0062 a0009c0027t0001g0067 a0015c0031t0001g0077	10	342	0.0292	23	c.-35 others(34): Show c.-3584_-3583insGAAAGAAAAGAAAAGAAAAGAAA	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		3369		chr1	TogoVar
COL18A1_chr21_45400165_45518720	45409041	T T	TGCTGAGC others(16): Show TGCTGAGCACAGCCCCCAGGCTGG	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0143 a0001c0002t0003g0143	1	292	0.0034	23	c.106 others(40): Show c.106+3569_106+3570insCTGAGCACAGCCCCCAGGCTGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45484086	C C	CACACACA others(16): Show CACACACACCTCTCCAGCATATGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02886.hp2 HG03486.hp1 HG02622.hp2 HG02886.hp2 HG03486.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0004 a0002c0012t0004	a0002c0012t0004g0040 a0002c0012t0004g0049 a0002c0012t0004g0199 a0002c0012t0004g0040 a0002c0012t0004g0049 a0002c0012t0004g0199	3	292	0.0103	23	c.170 others(42): Show c.1701+1266_1701+1288dupACACACACCTCTCCAGCATATGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	15/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69896543	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0018	a0002c0003t0018g0138 a0002c0003t0018g0138	1	182	0.0055	23	c.92- others(38): Show c.92-2399_92-2377dupAAAAAAAAAAAAAAAAAAAAAAA	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	2/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	69921388	T T	TATATATC others(16): Show TATATATCATATATCATATATATC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0145 a0001c0005t0007g0145	1	182	0.0055	23	c.267 others(40): Show c.267-6507_267-6485dupCATATATATCATATATCATATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	69921413	T T	TATATATC others(16): Show TATATATCATATATATCATATATC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0068 a0002c0004t0001g0068	1	182	0.0055	23	c.267 others(40): Show c.267-6492_267-6491insATCATATATATCATATATCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL21A1_chr6_56051590_56252580	56148369	A A	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03225.hp1 NA19004.hp1 HG02486.hp1 HG03225.hp1 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0003 a0001c0001t0005 a0002c0008t0001 a0001c0001t0003 a0001c0001t0005 a0002c0008t0001	a0001c0001t0003g0066 a0001c0001t0005g0228 a0002c0008t0001g0100 a0001c0001t0003g0066 a0001c0001t0005g0228 a0002c0008t0001g0100	3	264	0.0114	23	c.143 others(42): Show c.1435-6387_1435-6386insCTCTCTCTCTCTCTCTCTCTCTC	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	10/29			chr6	TogoVar
COL23A1_chr5_178232618_178595393	178403108	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0012 a0003c0007t0001g0012	1	236	0.0042	23	c.362 others(42): Show c.362-96190_362-96189insTTTTTTTTTTTTTTTTTTTTTTT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178558808	T T	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0173 a0002c0003t0003g0173	1	236	0.0042	23	c.361 others(40): Show c.361+1873_361+1874insTCAAAAAAAAAAAAAAAAAAAAA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178562736	T T	TGGGGGGG others(16): Show TGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0044 a0003c0007t0001g0044	1	236	0.0042	23	c.295 others(40): Show c.295-1989_295-1988insCCCCCCCCCCCCCCCCCCCCCCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	85799211	A A	AAAAAAAA others(16): Show AAAAAAAAGAAAGAAAGAAGAAAG	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0189 a0005c0004t0002g0189	1	238	0.0042	23	c.395 others(44): Show c.3952-12751_3952-12750insCTTTCTTCTTTCTTTCTTTTTTT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	47/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85906264	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0009 a0009	a0009c0042 a0009c0042	a0009c0042t0003 a0009c0042t0003	a0009c0042t0003g0111 a0009c0042t0003g0111	1	238	0.0042	23	c.277 others(40): Show c.2778+929_2778+930insAAAAAAAAAAAAAAAAAAAAAAA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	28/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	86082622	T T	TATATATT others(16): Show TATATATTTATATAAATATATAAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG01071.hp2 others(39): Show HG00642.hp1 HG00741.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01255.hp1 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02083.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02559.hp2 HG02717.hp1 HG02886.hp2 HG02897.hp1 HG03041.hp1 HG03139.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG04228.hp2 HG06807.hp2 NA18944.hp1 NA18953.hp2 NA18992.hp2 NA19007.hp2 NA19088.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0006 a0007 a0009 a0022 a0023 a0032 a0036 a0042	a0001c0001 a0002c0003 a0004c0002 others(14): Show a0001c0001 a0002c0003 a0004c0002 a0004c0071 a0006c0028 a0006c0032 a0006c0058 a0006c0061 a0007c0010 a0007c0014 a0007c0076 a0009c0042 a0022c0030 a0023c0025 a0032c0064 a0036c0055 a0042c0065	a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 others(22): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0016 a0004c0002t0001 a0004c0002t0002 a0004c0002t0003 a0004c0002t0007 a0004c0071t0001 a0006c0028t0002 a0006c0028t0003 a0006c0032t0003 a0006c0058t0001 a0006c0061t0003 a0007c0010t0003 a0007c0010t0004 a0007c0014t0001 a0007c0014t0003 a0007c0076t0001 a0009c0042t0003 a0022c0030t0006 a0023c0025t0004 a0032c0064t0003 a0036c0055t0009 a0042c0065t0004	a0001c0001t0001g0119 a0002c0003t0001g0166 a0002c0003t0001g0167 others(39): Show a0001c0001t0001g0119 a0002c0003t0001g0166 a0002c0003t0001g0167 a0002c0003t0001g0220 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0003t0001g0226 a0002c0003t0002g0141 a0002c0003t0002g0156 a0002c0003t0016g0227 a0004c0002t0001g0127 a0004c0002t0001g0130 a0004c0002t0001g0153 a0004c0002t0001g0181 a0004c0002t0002g0129 a0004c0002t0003g0144 a0004c0002t0003g0228 a0004c0002t0003g0229 a0004c0002t0007g0001 a0004c0002t0007g0004 a0004c0071t0001g0152 a0006c0028t0002g0086 a0006c0028t0003g0072 a0006c0032t0003g0068 a0006c0058t0001g0082 a0006c0061t0003g0232 a0007c0010t0003g0112 a0007c0010t0003g0199 a0007c0010t0003g0200 a0007c0010t0003g0201 a0007c0010t0003g0202 a0007c0010t0004g0149 a0007c0014t0001g0203 a0007c0014t0001g0221 a0007c0014t0003g0235 a0007c0076t0001g0236 a0009c0042t0003g0111 a0022c0030t0006g0003 a0023c0025t0004g0234 a0032c0064t0003g0093 a0036c0055t0009g0005 a0042c0065t0004g0188	42	238	0.1765	23	c.170 others(42): Show c.1707+6529_1707+6551dupGTTATATATTTATATAAATATAT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	7/59			chr1	TogoVar
COL25A1_chr4_108803725_109307658	108835861	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02723.hp1 HG02809.hp2 others(1): Show HG01361.hp2 HG02723.hp1 HG02809.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0008 a0001c0001t0002 a0001c0002t0001 a0001c0002t0008	a0001c0001t0002g0109 a0001c0001t0002g0129 a0001c0002t0001g0130 others(1): Show a0001c0001t0002g0109 a0001c0001t0002g0129 a0001c0002t0001g0130 a0001c0002t0008g0087	4	130	0.0308	23	c.165 others(42): Show c.1657-3451_1657-3429dupAAAAAAAAAAAAAAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	31/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109001372	C C	CAGGCATC others(16): Show CAGGCATCTGAGATCCTGTCAGGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp2 HG03471.hp2 others(3): Show HG02723.hp2 HG02886.hp2 HG03471.hp2 NA18952.hp2 NA18998.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0002c0011	a0001c0001t0002 a0001c0002t0013 a0001c0009t0002 others(1): Show a0001c0001t0002 a0001c0002t0013 a0001c0009t0002 a0002c0011t0007	a0001c0001t0002g0091 a0001c0001t0002g0116 a0001c0002t0013g0067 others(3): Show a0001c0001t0002g0091 a0001c0001t0002g0116 a0001c0002t0013g0067 a0001c0002t0013g0070 a0001c0009t0002g0097 a0002c0011t0007g0061	6	130	0.0462	23	c.438 others(40): Show c.438+8963_438+8985dupACCTGACAGGATCTCAGATGCCT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	6/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109013484	C C	CCACACTG others(16): Show CCACACTGTGTAGGCTTTGTTCTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00558.hp1 others(86): Show HG00140.hp1 HG00140.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01071.hp2 HG01109.hp1 HG01167.hp1 HG01175.hp2 HG01243.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01884.hp2 HG01891.hp1 HG01981.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18941.hp2 NA18952.hp2 NA18998.hp1 NA18998.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19079.hp2 NA19086.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0002c0011 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0026 a0001c0001t0028 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0013 a0001c0002t0021 a0001c0002t0022 a0001c0002t0025 a0001c0003t0001 a0001c0003t0004 a0001c0003t0024 a0001c0004t0001 a0001c0004t0002 a0001c0004t0029 a0001c0005t0005 a0001c0006t0015 a0001c0009t0002 a0002c0011t0007 a0003c0008t0003	a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0048 others(86): Show a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0099 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0063 a0001c0001t0002g0071 a0001c0001t0002g0085 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0003g0005 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0033 a0001c0001t0004g0004 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0006g0049 a0001c0001t0006g0051 a0001c0001t0006g0064 a0001c0001t0006g0072 a0001c0001t0006g0076 a0001c0001t0011g0047 a0001c0001t0012g0096 a0001c0001t0014g0012 a0001c0001t0026g0046 a0001c0001t0028g0084 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0052 a0001c0002t0001g0066 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0110 a0001c0002t0001g0125 a0001c0002t0001g0130 a0001c0002t0003g0010 a0001c0002t0004g0011 a0001c0002t0004g0028 a0001c0002t0005g0065 a0001c0002t0005g0112 a0001c0002t0007g0115 a0001c0002t0008g0060 a0001c0002t0010g0013 a0001c0002t0010g0030 a0001c0002t0013g0067 a0001c0002t0013g0070 a0001c0002t0021g0082 a0001c0002t0022g0073 a0001c0002t0025g0050 a0001c0003t0001g0053 a0001c0003t0001g0055 a0001c0003t0001g0057 a0001c0003t0004g0001 a0001c0003t0024g0045 a0001c0004t0001g0040 a0001c0004t0001g0043 a0001c0004t0002g0083 a0001c0004t0029g0095 a0001c0005t0005g0122 a0001c0006t0015g0022 a0001c0009t0002g0097 a0002c0011t0007g0061 a0003c0008t0003g0034	89	130	0.6846	23	c.421 others(40): Show c.421-3132_421-3110dupAAGAACAAAGCCTACACAGTGTG	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	5/37			chr4	TogoVar

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