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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
COA1_chr7_43634257_43734523	43700591	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	384	0.0026	16	c.-39 others(35): Show c.-39+28822_-39+28837dupACACACACACACACAC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43708391	G G	GCTCAAGA others(9): Show GCTCAAGACTGGGAGGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00642.hp1 others(19): Show HG00140.hp2 HG00323.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG02148.hp1 HG02293.hp1 HG03654.hp1 HG03834.hp2 HG03942.hp1 NA19084.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0358 others(17): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0002t0001g0366 a0001c0002t0001g0367	22	384	0.0573	16	c.-39 others(35): Show c.-39+21037_-39+21038insGCCTCCCAGTCTTGAG	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA6_chr1_234368456_234390080	234370410	A A	ACCTTTTT others(9): Show ACCTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01258.hp2 HG01975.hp2 others(5): Show HG01167.hp2 HG01258.hp2 HG01975.hp2 HG02818.hp2 HG03453.hp1 NA18747.hp2 NA18964.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0060 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0060 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106	8	406	0.0197	16	c.-30 others(27): Show c.-3057_-3056insCCTTTTTTTTTTTTTT	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding		3045		chr1	TogoVar
COA6_chr1_234368456_234390080	234370412	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00733.hp2 others(30): Show HG00099.hp2 HG00423.hp1 HG00733.hp2 HG01169.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG02074.hp2 HG02083.hp2 HG02273.hp2 HG02622.hp2 HG02895.hp1 HG03209.hp1 HG03490.hp1 HG03927.hp2 HG04199.hp2 NA18612.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18971.hp2 NA18976.hp2 NA18982.hp2 NA18983.hp1 NA19004.hp2 NA19010.hp2 NA19090.hp2 NA19240.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0035 others(15): Show a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0053 a0001c0001t0001g0176 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0079 a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0128 a0002c0002t0001g0141 a0002c0002t0001g0169 a0002c0002t0001g0182	33	406	0.0813	16	c.-30 others(27): Show c.-3055_-3054insTTTTTTTTTTTTTTTT	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding		3043		chr1	TogoVar
COA6_chr1_234368456_234390080	234377133	T T	TTTTTTTG others(9): Show TTTTTTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01167.hp2 HG01258.hp1 others(1): Show HG00642.hp1 HG01167.hp2 HG01258.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0001t0001g0115 others(1): Show a0001c0001t0001g0101 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0002g0079	4	406	0.0099	16	c.372 others(33): Show c.372+2746_372+2747insTTTTGTTGTTGTTGTT	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
COA6_chr1_234368456_234390080	234377133	T T	TTTTTTTT others(9): Show TTTTTTTTTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02738.hp1 others(1): Show HG02055.hp1 HG02258.hp1 HG02738.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0001g0123 others(1): Show a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124	4	406	0.0099	16	c.372 others(33): Show c.372+2746_372+2747insTTTTTTTGTTGTTGTT	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
COBLL1_chr2_164675188_164846823	164725101	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	212	0.0047	16	c.662 others(33): Show c.662-2595_662-2580dupATATATATATATATAT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	5/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164789020	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01516.hp1 HG02083.hp2 others(1): Show HG01109.hp1 HG01516.hp1 HG02083.hp2 HG02293.hp1	a0001 a0003 a0018 a0001 a0003 a0018	a0001c0001 a0003c0004 a0018c0018 a0001c0001 a0003c0004 a0018c0018	a0001c0001t0001 a0003c0004t0006 a0018c0018t0001 a0001c0001t0001 a0003c0004t0006 a0018c0018t0001	a0001c0001t0001g0066 a0003c0004t0006g0065 a0003c0004t0006g0067 others(1): Show a0001c0001t0001g0066 a0003c0004t0006g0065 a0003c0004t0006g0067 a0018c0018t0001g0054	4	212	0.0189	16	c.42- others(33): Show c.42-45161_42-45146dupGTGTGTGTGTGTGTGT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805325	C C	CTATATAT others(9): Show CTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0010 a0006c0008t0001g0010	1	212	0.0047	16	c.41+ others(33): Show c.41+35830_41+35831insTATATATATATATATA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164818769	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp2 NA20300.hp1 HG02622.hp1 HG02622.hp2 NA20300.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0034 a0001c0001 a0001c0002 a0009c0034	a0001c0001t0001 a0001c0002t0051 a0009c0034t0032 a0001c0001t0001 a0001c0002t0051 a0009c0034t0032	a0001c0001t0001g0015 a0001c0002t0051g0003 a0009c0034t0032g0024 a0001c0001t0001g0015 a0001c0002t0051g0003 a0009c0034t0032g0024	3	212	0.0142	16	c.41+ others(33): Show c.41+22386_41+22387insATATATATATATATAT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164818771	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01496.hp2 HG02572.hp1 others(1): Show HG01261.hp1 HG01496.hp2 HG02572.hp1 HG02723.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0003 a0010c0027 a0001c0001 a0002c0003 a0010c0027	a0001c0001t0018 a0002c0003t0054 a0010c0027t0010 a0001c0001t0018 a0002c0003t0054 a0010c0027t0010	a0001c0001t0018g0167 a0001c0001t0018g0168 a0002c0003t0054g0169 others(1): Show a0001c0001t0018g0167 a0001c0001t0018g0168 a0002c0003t0054g0169 a0010c0027t0010g0166	4	212	0.0189	16	c.41+ others(33): Show c.41+22384_41+22385insGTATATATATATATAT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51061946	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18984.hp1 NA19043.hp2 HG02559.hp2 NA18984.hp1 NA19043.hp2	a0002 a0006 a0024 a0002 a0006 a0024	a0002c0003 a0006c0029 a0024c0066 a0002c0003 a0006c0029 a0024c0066	a0002c0003t0003 a0006c0029t0003 a0024c0066t0003 a0002c0003t0003 a0006c0029t0003 a0024c0066t0003	a0002c0003t0003g0093 a0006c0029t0003g0053 a0024c0066t0003g0051 a0002c0003t0003g0093 a0006c0029t0003g0053 a0024c0066t0003g0051	3	230	0.0130	16	c.109 others(37): Show c.1097-18255_1097-18254insGTGTGTGTGTGTGTGT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51061950	T T	TACACACA others(9): Show TACACACACACACATAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03579.hp2 HG02622.hp2 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0015 a0003c0031 a0001c0015 a0003c0031	a0001c0015t0014 a0003c0031t0001 a0001c0015t0014 a0003c0031t0001	a0001c0015t0014g0013 a0003c0031t0001g0066 a0001c0015t0014g0013 a0003c0031t0001g0066	2	230	0.0087	16	c.109 others(37): Show c.1097-18259_1097-18258insGTATGTGTGTGTGTGT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51061952	C C	CACACACA others(9): Show CACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0181 a0001c0015t0001g0181	1	230	0.0044	16	c.109 others(37): Show c.1097-18261_1097-18260insATGTGTGTGTGTGTGT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51061954	C C	CACACACA others(9): Show CACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp2 HG03540.hp1 others(1): Show HG03209.hp1 HG03209.hp2 HG03540.hp1 NA18522.hp1	a0012 a0016 a0030 a0012 a0016 a0030	a0012c0021 a0016c0022 a0030c0059 a0012c0021 a0016c0022 a0030c0059	a0012c0021t0001 a0016c0022t0001 a0030c0059t0001 a0012c0021t0001 a0016c0022t0001 a0030c0059t0001	a0012c0021t0001g0127 a0016c0022t0001g0125 a0016c0022t0001g0126 others(1): Show a0012c0021t0001g0127 a0016c0022t0001g0125 a0016c0022t0001g0126 a0030c0059t0001g0039	4	230	0.0174	16	c.109 others(37): Show c.1097-18263_1097-18262insATGTGTGTGTGTGTGT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51070392	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02970.hp1 HG02970.hp2 others(4): Show HG02895.hp1 HG02970.hp1 HG02970.hp2 HG03139.hp1 HG04199.hp2 NA18906.hp1 NA19068.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0011	a0001c0004 a0001c0015 a0002c0026 others(3): Show a0001c0004 a0001c0015 a0002c0026 a0004c0025 a0005c0005 a0011c0014	a0001c0004t0006 a0001c0015t0006 a0002c0026t0001 others(3): Show a0001c0004t0006 a0001c0015t0006 a0002c0026t0001 a0004c0025t0002 a0005c0005t0003 a0011c0014t0003	a0001c0004t0006g0003 a0001c0004t0006g0081 a0001c0015t0006g0022 others(4): Show a0001c0004t0006g0003 a0001c0004t0006g0081 a0001c0015t0006g0022 a0002c0026t0001g0211 a0004c0025t0002g0015 a0005c0005t0003g0101 a0011c0014t0003g0162	7	230	0.0304	16	c.109 others(37): Show c.1096+14758_1096+14773dupGTGTGTGTGTGTGTGT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51098224	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18522.hp1 HG02970.hp1 NA18522.hp1	a0004 a0016 a0004 a0016	a0004c0025 a0016c0022 a0004c0025 a0016c0022	a0004c0025t0002 a0016c0022t0001 a0004c0025t0002 a0016c0022t0001	a0004c0025t0002g0015 a0016c0022t0001g0126 a0004c0025t0002g0015 a0016c0022t0001g0126	2	230	0.0087	16	c.958 others(35): Show c.958-12921_958-12920insAAAAAAAAAAAAAAAA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51108917	G G	GACACACA others(9): Show GACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02280.hp1 NA19010.hp1 others(1): Show HG02004.hp1 HG02280.hp1 NA19010.hp1 NA19055.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0004 a0004c0010 a0009c0012 a0001c0004 a0004c0010 a0009c0012	a0001c0004t0001 a0004c0010t0007 a0009c0012t0001 a0001c0004t0001 a0004c0010t0007 a0009c0012t0001	a0001c0004t0001g0193 a0004c0010t0007g0011 a0009c0012t0001g0194 others(1): Show a0001c0004t0001g0193 a0004c0010t0007g0011 a0009c0012t0001g0194 a0009c0012t0001g0208	4	230	0.0174	16	c.958 others(35): Show c.958-23629_958-23614dupGTGTGTGTGTGTGTGT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51187310	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0113 a0003c0001t0001g0113	1	230	0.0044	16	c.686 others(33): Show c.686-3127_686-3112dupTATATATATATATATA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	4/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51226522	T T	TTGAGTGA others(9): Show TTGAGTGAGTGAGTGAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01109.hp2 HG01934.hp2 others(16): Show HG01070.hp1 HG01109.hp2 HG01934.hp2 HG01975.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp1 HG02145.hp2 HG02683.hp1 HG02896.hp1 HG03041.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03710.hp2 NA18612.hp2 NA18988.hp2 NA18994.hp2 NA20300.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0012 a0023 a0025	a0001c0035 a0002c0007 a0003c0001 others(9): Show a0001c0035 a0002c0007 a0003c0001 a0003c0031 a0004c0009 a0004c0037 a0004c0046 a0006c0032 a0007c0018 a0012c0021 a0023c0033 a0025c0036	a0001c0035t0002 a0002c0007t0001 a0003c0001t0001 others(10): Show a0001c0035t0002 a0002c0007t0001 a0003c0001t0001 a0003c0001t0005 a0003c0031t0001 a0004c0009t0001 a0004c0037t0001 a0004c0046t0001 a0006c0032t0004 a0007c0018t0003 a0012c0021t0001 a0023c0033t0001 a0025c0036t0003	a0001c0035t0002g0173 a0002c0007t0001g0107 a0002c0007t0001g0172 others(16): Show a0001c0035t0002g0173 a0002c0007t0001g0107 a0002c0007t0001g0172 a0002c0007t0001g0174 a0002c0007t0001g0176 a0002c0007t0001g0177 a0002c0007t0001g0178 a0002c0007t0001g0179 a0003c0001t0001g0216 a0003c0001t0005g0044 a0003c0031t0001g0066 a0004c0009t0001g0005 a0004c0037t0001g0175 a0004c0046t0001g0048 a0006c0032t0004g0065 a0007c0018t0003g0171 a0012c0021t0001g0063 a0023c0033t0001g0064 a0025c0036t0003g0090	19	230	0.0826	16	c.42- others(31): Show c.42-6594_42-6579dupCTCACTCACTCACTCA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	1/12			chr7	TogoVar
COCH_chr14_30869559_30895618	30882120	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02886.hp1 HG02055.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0153 a0001c0001t0001g0123 a0001c0001t0001g0153	2	478	0.0042	16	c.629 others(33): Show c.629+1398_629+1413dupTTTTTTTTTTTTTTTT	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(9): Show CAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18999.hp1 NA19078.hp1 NA18522.hp2 NA18999.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0023 a0001c0001t0003g0069 a0001c0001t0002g0023 a0001c0001t0003g0069	3	478	0.0063	16	c.52 others(27): Show c.5262_*5263insAAAAAAAAAAAAAAAA	COCH	ENSG00000100473.18	transcript	ENST00000396618.9	protein_coding		4436		chr14	TogoVar
COG1_chr17_73188055_73213507	73190196	A A	AACACACA others(9): Show AACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02818.hp1 HG03098.hp1 HG01884.hp1 HG02818.hp1 HG03098.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0006 a0002c0001t0001g0051 a0002c0001t0001g0056 a0002c0001t0001g0006 a0002c0001t0001g0051 a0002c0001t0001g0056	3	428	0.0070	16	c.-28 others(27): Show c.-2874_-2873insACACACACACACACAC	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		2858		chr17	TogoVar
COG1_chr17_73188055_73213507	73207092	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02922.hp2 HG03139.hp2 others(3): Show HG02809.hp2 HG02922.hp2 HG03139.hp2 NA18994.hp2 NA19007.hp2 NA19063.hp1	a0002 a0002	a0002c0001 a0002c0006 a0002c0001 a0002c0006	a0002c0001t0001 a0002c0006t0001 a0002c0001t0001 a0002c0006t0001	a0002c0001t0001g0065 a0002c0001t0001g0107 a0002c0001t0001g0110 others(3): Show a0002c0001t0001g0065 a0002c0001t0001g0107 a0002c0001t0001g0110 a0002c0006t0001g0091 a0002c0006t0001g0095 a0002c0006t0001g0103	6	428	0.0140	16	c.273 others(31): Show c.2730-82_2730-67dupAAAAAAAAAAAAAAAA	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
COG3_chr13_45459939_45541701	45521577	G G	GCACACAC others(9): Show GCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0010 a0002c0005t0003g0010	1	342	0.0029	16	c.215 others(35): Show c.2154+2493_2154+2508dupACACACACACACACAC	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45525633	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0011 a0002c0005t0011	a0002c0005t0011g0150 a0002c0005t0011g0150	1	342	0.0029	16	c.223 others(33): Show c.2230+582_2230+583insTTTTTTTTTTTTTTTT	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	20/22			chr13	TogoVar
COG4_chr16_70475571_70528554	70506593	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02965.hp2 HG02809.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0124 a0001c0002t0004g0126 a0001c0002t0004g0124 a0001c0002t0004g0126	2	354	0.0057	16	c.106 others(35): Show c.1061+1797_1061+1812dupTTTTTTTTTTTTTTTT	COG4	ENSG00000103051.21	transcript	ENST00000323786.10	protein_coding	8/18			chr16	TogoVar
COG6_chr13_39650662_39757628	39651677	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01975.hp1 HG02040.hp1 others(15): Show HG00423.hp1 HG01975.hp1 HG02040.hp1 HG02083.hp1 HG02280.hp2 HG02647.hp1 HG04184.hp1 NA18522.hp1 NA18964.hp2 NA18982.hp1 NA18986.hp1 NA19009.hp1 NA19010.hp1 NA19064.hp1 NA19066.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0012t0003	a0001c0001t0003g0001 a0001c0001t0003g0025 a0001c0001t0003g0031 others(14): Show a0001c0001t0003g0001 a0001c0001t0003g0025 a0001c0001t0003g0031 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0056 a0001c0001t0003g0064 a0001c0001t0003g0069 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0078 a0001c0001t0004g0086 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0005g0209 a0001c0012t0003g0073	18	370	0.0487	16	c.-40 others(27): Show c.-4050_-4049insTTTTTTTTTTTTTTTT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding		3984		chr13	TogoVar
COG6_chr13_39650662_39757628	39706255	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG01884.hp1 HG02055.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0001 a0001c0001t0004 a0003c0003t0001	a0001c0001t0004g0091 a0003c0003t0001g0177 a0001c0001t0004g0091 a0003c0003t0001g0177	2	370	0.0054	16	c.128 others(35): Show c.1284+6645_1284+6660dupATATATATATATATAT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39730773	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01516.hp1 HG01934.hp2 others(16): Show HG01106.hp1 HG01516.hp1 HG01934.hp2 HG02027.hp2 HG02056.hp1 HG02129.hp2 HG02486.hp1 HG02683.hp2 HG03471.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp2 HG03834.hp2 NA19001.hp2 NA19002.hp1 NA19009.hp2 NA19082.hp2 NA19086.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0125 others(16): Show a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0194	19	370	0.0514	16	c.182 others(35): Show c.1826+3236_1826+3251dupAAAAAAAAAAAAAAAA	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39730790	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18994.hp2 NA18959.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0139 a0001c0001t0001g0140	2	370	0.0054	16	c.182 others(35): Show c.1826+3251_1826+3252insAAAAAAGAAAAAAAAA	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG7_chr16_23383493_23458189	23409088	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02145.hp2 HG02922.hp2 HG01928.hp2 HG02145.hp2 HG02922.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0010 a0001c0001 a0002c0002 a0005c0010	a0001c0001t0002 a0002c0002t0003 a0005c0010t0003 a0001c0001t0002 a0002c0002t0003 a0005c0010t0003	a0001c0001t0002g0065 a0002c0002t0003g0098 a0005c0010t0003g0097 a0001c0001t0002g0065 a0002c0002t0003g0098 a0005c0010t0003g0097	3	272	0.0110	16	c.147 others(35): Show c.1475+1206_1475+1207insGCGCGCACACACACAC	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	11/16			chr16	TogoVar
COG7_chr16_23383493_23458189	23409088	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00438.hp1 others(46): Show HG00099.hp2 HG00140.hp1 HG00438.hp1 HG01081.hp2 HG01175.hp1 HG01516.hp1 HG02015.hp2 HG02056.hp2 HG02083.hp2 HG02257.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02622.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG02976.hp2 HG03225.hp1 HG03239.hp1 HG03669.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18948.hp1 NA18952.hp2 NA18957.hp1 NA18966.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18990.hp1 NA18992.hp1 NA19003.hp1 NA19004.hp1 NA19009.hp2 NA19010.hp2 NA19057.hp2 NA19060.hp1 NA19077.hp2 NA19084.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0009 a0008c0004 a0001c0001 a0001c0009 a0008c0004	a0001c0001t0002 a0001c0001t0005 a0001c0009t0002 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0009t0002 a0008c0004t0002	a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0020 others(46): Show a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0197 a0001c0001t0005g0012 a0001c0001t0005g0041 a0001c0001t0005g0044 a0001c0001t0005g0059 a0001c0009t0002g0066 a0008c0004t0002g0010	49	272	0.1802	16	c.147 others(35): Show c.1475+1206_1475+1207insGCGCACACACACACAC	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	11/16			chr16	TogoVar
COG7_chr16_23383493_23458189	23409088	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0007 a0004c0011t0007	a0004c0011t0007g0016 a0004c0011t0007g0016	1	272	0.0037	16	c.147 others(35): Show c.1475+1206_1475+1207insGCACACACACACACAC	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	11/16			chr16	TogoVar
COL11A1_chr1_102871473_103113522	102878475	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(11): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG01109.hp2 HG01243.hp2 HG01256.hp1 HG01358.hp1 HG01358.hp2 HG01978.hp2 HG02258.hp1 HG02886.hp2 HG02970.hp2 HG03209.hp1 HG03471.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0014	a0001c0002 a0001c0006 a0001c0016 others(4): Show a0001c0002 a0001c0006 a0001c0016 a0001c0019 a0002c0001 a0004c0007 a0014c0036	a0001c0002t0003 a0001c0006t0001 a0001c0016t0001 others(4): Show a0001c0002t0003 a0001c0006t0001 a0001c0016t0001 a0001c0019t0003 a0002c0001t0001 a0004c0007t0001 a0014c0036t0001	a0001c0002t0003g0104 a0001c0006t0001g0036 a0001c0006t0001g0045 others(11): Show a0001c0002t0003g0104 a0001c0006t0001g0036 a0001c0006t0001g0045 a0001c0006t0001g0159 a0001c0016t0001g0102 a0001c0019t0003g0051 a0002c0001t0001g0128 a0002c0001t0001g0142 a0002c0001t0001g0148 a0002c0001t0001g0162 a0002c0001t0001g0181 a0004c0007t0001g0089 a0004c0007t0001g0115 a0014c0036t0001g0118	14	184	0.0761	16	c.527 others(33): Show c.5275-326_5275-311dupATATATATATATATAT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	66/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	102889383	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18939.hp1 NA18984.hp1 others(2): Show HG03195.hp2 NA18939.hp1 NA18984.hp1 NA19063.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0013 a0001c0002 a0004c0013	a0001c0002t0003 a0001c0002t0011 a0004c0013t0001 a0001c0002t0003 a0001c0002t0011 a0004c0013t0001	a0001c0002t0003g0068 a0001c0002t0011g0091 a0004c0013t0001g0096 others(2): Show a0001c0002t0003g0068 a0001c0002t0011g0091 a0004c0013t0001g0096 a0004c0013t0001g0106 a0004c0013t0001g0107	5	184	0.0272	16	c.446 others(31): Show c.4464+56_4464+71dupCACACACACACACACA	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	59/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	103006178	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(17): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00639.hp2 HG00738.hp2 HG01256.hp1 HG01358.hp2 HG02004.hp2 HG02300.hp2 HG02683.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03710.hp2 NA18939.hp1 NA18984.hp1 NA19057.hp1 NA19082.hp1 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0014	a0001c0002 a0001c0005 a0001c0016 others(8): Show a0001c0002 a0001c0005 a0001c0016 a0001c0031 a0002c0001 a0002c0034 a0003c0011 a0004c0007 a0004c0013 a0004c0021 a0014c0036	a0001c0002t0011 a0001c0005t0004 a0001c0016t0001 others(8): Show a0001c0002t0011 a0001c0005t0004 a0001c0016t0001 a0001c0031t0001 a0002c0001t0001 a0002c0034t0001 a0003c0011t0001 a0004c0007t0001 a0004c0013t0001 a0004c0021t0008 a0014c0036t0001	a0001c0002t0011g0091 a0001c0005t0004g0015 a0001c0016t0001g0102 others(17): Show a0001c0002t0011g0091 a0001c0005t0004g0015 a0001c0016t0001g0102 a0001c0031t0001g0172 a0002c0001t0001g0125 a0002c0001t0001g0151 a0002c0001t0001g0162 a0002c0034t0001g0182 a0003c0011t0001g0060 a0003c0011t0001g0105 a0003c0011t0001g0161 a0004c0007t0001g0089 a0004c0007t0001g0090 a0004c0007t0001g0092 a0004c0007t0001g0093 a0004c0007t0001g0115 a0004c0013t0001g0096 a0004c0013t0001g0106 a0004c0021t0008g0081 a0014c0036t0001g0118	20	184	0.1087	16	c.173 others(31): Show c.1737+68_1738-58dupATTTATTTATTTATTT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	16/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	103027396	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0169 a0002c0001t0001g0169	1	184	0.0054	16	c.781 others(33): Show c.781-1080_781-1065dupATATATATATATATAT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	5/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	103065522	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0062 a0001c0002t0003g0062	1	184	0.0054	16	c.651 others(33): Show c.651+9080_651+9095dupTTTTTTTTTTTTTTTT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	4/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	103111808	T T	TATAGATA others(9): Show TATAGATAGATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0099 a0002c0001t0002g0099	1	184	0.0054	16	c.-36 others(27): Show c.-3631_-3630insCTATCTATCTATCTAT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding		3287		chr1	TogoVar
COL11A1_chr1_102871473_103113522	103111839	A A	AGATAGAT others(9): Show AGATAGATAGATAGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00738.hp2 HG01884.hp1 others(19): Show HG00408.hp2 HG00738.hp2 HG01884.hp1 HG01978.hp2 HG02027.hp1 HG02055.hp1 HG02257.hp1 HG02572.hp2 HG02809.hp1 HG02922.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03704.hp2 HG03927.hp2 NA18522.hp1 NA18942.hp2 NA18966.hp2 NA18977.hp1 NA18998.hp2 NA19075.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0016	a0001c0002 a0001c0005 a0001c0009 others(8): Show a0001c0002 a0001c0005 a0001c0009 a0001c0016 a0002c0001 a0002c0024 a0003c0011 a0003c0023 a0004c0014 a0007c0015 a0016c0027	a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 others(10): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0001c0005t0005 a0001c0009t0007 a0001c0016t0001 a0002c0001t0001 a0002c0024t0002 a0003c0011t0001 a0003c0023t0002 a0004c0014t0003 a0007c0015t0005 a0016c0027t0005	a0001c0002t0002g0155 a0001c0002t0003g0062 a0001c0002t0003g0063 others(19): Show a0001c0002t0002g0155 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0011g0091 a0001c0005t0005g0070 a0001c0005t0005g0071 a0001c0005t0005g0078 a0001c0005t0005g0080 a0001c0009t0007g0056 a0001c0009t0007g0057 a0001c0016t0001g0050 a0002c0001t0001g0117 a0002c0001t0001g0121 a0002c0001t0001g0142 a0002c0024t0002g0075 a0003c0011t0001g0161 a0003c0023t0002g0079 a0004c0014t0003g0059 a0007c0015t0005g0113 a0007c0015t0005g0114 a0016c0027t0005g0076	22	184	0.1196	16	c.-36 others(27): Show c.-3662_-3661insCATCTATCTATCTATC	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding		3318		chr1	TogoVar
COL12A1_chr6_75079326_75211053	75181927	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0006 a0005c0016t0006	a0005c0016t0006g0028 a0005c0016t0006g0028	1	206	0.0049	16	c.189 others(33): Show c.1892-717_1892-716insTTTTTTTTTTTTTTTT	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding	10/65			chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208124	T T	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0082 a0001c0001t0004g0082	1	206	0.0049	16	c.-23 others(27): Show c.-2384_-2383insGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2072		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208154	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG02896.hp2 HG03492.hp2 HG01261.hp1 HG02896.hp2 HG03492.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0039 a0008c0011 a0001c0001 a0001c0039 a0008c0011	a0001c0001t0001 a0001c0039t0001 a0008c0011t0007 a0001c0001t0001 a0001c0039t0001 a0008c0011t0007	a0001c0001t0001g0104 a0001c0039t0001g0140 a0008c0011t0007g0042 a0001c0001t0001g0104 a0001c0039t0001g0140 a0008c0011t0007g0042	3	206	0.0146	16	c.-24 others(27): Show c.-2414_-2413insAAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2102		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208156	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0027 a0027	a0027c0018 a0027c0018	a0027c0018t0007 a0027c0018t0007	a0027c0018t0007g0145 a0027c0018t0007g0145	1	206	0.0049	16	c.-24 others(27): Show c.-2416_-2415insAAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2104		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208160	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA19066.hp1 NA18946.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0087 a0001c0001t0001g0055 a0001c0001t0001g0087	2	206	0.0097	16	c.-24 others(27): Show c.-2420_-2419insAAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2108		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208162	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	206	0.0049	16	c.-24 others(27): Show c.-2422_-2421insAAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2110		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208168	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 NA19090.hp1 HG03942.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0002 a0001c0001t0001 a0002c0006t0002	a0001c0001t0001g0074 a0002c0006t0002g0119 a0001c0001t0001g0074 a0002c0006t0002g0119	2	206	0.0097	16	c.-24 others(27): Show c.-2428_-2427insAAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2116		chr6	TogoVar
COL13A1_chr10_69796906_69964144	69810376	G G	GAGAGAGA others(9): Show GAGAGAGACACAGAGAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0207 a0001c0002t0001g0207	1	324	0.0031	16	c.294 others(33): Show c.294+7664_294+7665insGACACAGAGACAGAGA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69858115	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0021 a0001c0011t0002g0021	1	324	0.0031	16	c.365 others(33): Show c.365-9678_365-9663dupAAAAAAAAAAAAAAAA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	2/40		INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)