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
CNTNAP2_chr7_146111801_148425998	148135973	G G	GAGGAAGG others(14): Show GAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03540.hp1 HG03139.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0010 a0001c0008t0001 a0001c0002t0010 a0001c0008t0001	a0001c0002t0010g0002 a0001c0008t0001g0025 a0001c0002t0010g0002 a0001c0008t0001g0025	2	40	0.0500	21	c.255 others(42): Show c.2555-11517_2555-11497dupAGGAAGGAAGGAAGGAAGGAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148351744	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA21309.hp2 HG02451.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0002t0001 a0001c0001t0018 a0001c0002t0001	a0001c0001t0018g0001 a0001c0002t0001g0007 a0001c0001t0018g0001 a0001c0002t0001g0007	2	40	0.0500	21	c.347 others(42): Show c.3476-31889_3476-31888insAAAAAAAAAAAAAAAAAAAAA	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(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0002 a0001c0002t0010g0002	1	40	0.0250	21	c.371 others(40): Show c.3716-3965_3716-3945dupTTTTTTTTTTTTTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	41956387	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02056.hp2 HG02145.hp2 others(2): Show HG02040.hp2 HG02056.hp2 HG02145.hp2 HG03453.hp2 NA18970.hp2	a0001 a0006 a0034 a0001 a0006 a0034	a0001c0001 a0006c0007 a0006c0041 others(1): Show a0001c0001 a0006c0007 a0006c0041 a0034c0038	a0001c0001t0002 a0006c0007t0011 a0006c0041t0002 others(1): Show a0001c0001t0002 a0006c0007t0011 a0006c0041t0002 a0034c0038t0002	a0001c0001t0002g0002 a0001c0001t0002g0024 a0006c0007t0011g0017 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0024 a0006c0007t0011g0017 a0006c0041t0002g0020 a0034c0038t0002g0016	5	108	0.0463	21	c.187 others(40): Show c.1877-3002_1877-3001insATTATTATTATTATTATTATT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	12/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	41981892	C C	CAATAATA others(14): Show CAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01071.hp2 HG01934.hp2 others(16): Show HG00323.hp1 HG01071.hp2 HG01934.hp2 HG01943.hp1 HG02083.hp2 HG02145.hp1 HG02559.hp1 HG02572.hp1 HG03041.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp2 NA18949.hp1 NA18974.hp2 NA18998.hp1 NA19086.hp1 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0012 a0014 a0015	a0001c0001 a0002c0002 a0002c0010 others(5): Show a0001c0001 a0002c0002 a0002c0010 a0002c0015 a0006c0007 a0012c0022 a0014c0018 a0015c0019	a0001c0001t0002 a0002c0002t0001 a0002c0002t0022 others(6): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0022 a0002c0010t0001 a0002c0015t0001 a0006c0007t0011 a0012c0022t0001 a0014c0018t0001 a0015c0019t0001	a0001c0001t0002g0004 a0001c0001t0002g0018 a0002c0002t0001g0044 others(16): Show a0001c0001t0002g0004 a0001c0001t0002g0018 a0002c0002t0001g0044 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0056 a0002c0002t0001g0059 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0022g0068 a0002c0010t0001g0058 a0002c0015t0001g0046 a0006c0007t0011g0021 a0012c0022t0001g0055 a0014c0018t0001g0067 a0015c0019t0001g0066	19	108	0.1759	21	c.147 others(40): Show c.1477+4255_1477+4275dupATTATTATTATTATTATTATT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	9/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	41981916	T T	TAATAATA others(14): Show TAATAATAATAATAATAATAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0009 a0009c0008t0009	a0009c0008t0009g0107 a0009c0008t0009g0107	1	108	0.0093	21	c.147 others(40): Show c.1477+4251_1477+4252insTTTATTATTATTATTATTATT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	9/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42030813	G G	GAGAGAGA others(14): Show GAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	108	0.0093	21	c.391 others(40): Show c.391-17289_391-17288insTCTCTCTCTCTCTCTCTCTCT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	3/23			chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	274	0.0037	21	c.133 others(40): Show c.1334-1182_1334-1181insAAAAAAAAATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76470483	A A	ATATATAT others(14): Show ATATATATATATATATAATATT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp1 HG02630.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0172 a0001c0001t0010g0240 a0001c0001t0004g0172 a0001c0001t0010g0240	2	274	0.0073	21	c.165 others(40): Show c.1655+2974_1655+2975insTAATATTTATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124037479	A A	AAAAAGTG others(14): Show AAAAAGTGTCAGTATAGATTCT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0001 a0002c0004t0001g0001	1	64	0.0156	21	c.82+ others(38): Show c.82+11747_82+11748insAAAAGTGTCAGTATAGATTCT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23			chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124100086	G G	GCAGCCTG others(14): Show GCAGCCTGTACAGGAAGCATAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 NA21309.hp2 HG02897.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0024 a0001c0002t0001g0054 a0001c0001t0002g0024 a0001c0002t0001g0054	2	64	0.0313	21	c.82+ others(38): Show c.82+74358_82+74359insCTGTACAGGAAGCATAACAGC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124419140	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 homoSapiens_chm13v2.hp1 NA19000.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0043 a0001c0002t0002g0034 a0001c0001t0001g0043 a0001c0002t0002g0034	2	64	0.0313	21	c.529 others(38): Show c.529+1553_529+1573dupAAAAAAAAAAAAAAAAAAAAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124541179	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	64	0.0156	21	c.164 others(42): Show c.1649+13740_1649+13741insTTTTTTTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124706746	C C	CAAGAAGA others(14): Show CAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02922.hp1 HG01261.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0002 a0001c0001t0014 a0001c0002t0002	a0001c0001t0014g0037 a0001c0002t0002g0031 a0001c0001t0014g0037 a0001c0002t0002g0031	2	64	0.0313	21	c.207 others(42): Show c.2078-40452_2078-40432dupAAGAAGAAGAAGAAGAAGAAG	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(14): Show AAGAAGAAGAAGAAGAAGGAGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA20300.hp2 HG02145.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0002c0008t0001 a0001c0001t0001 a0002c0008t0001	a0001c0001t0001g0011 a0002c0008t0001g0038 a0001c0001t0001g0011 a0002c0008t0001g0038	2	64	0.0313	21	c.207 others(42): Show c.2078-40432_2078-40431insAAGAAGAAGAAGAAGGAGGAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124706795	A A	AAGAAGGA others(14): Show AAGAAGGAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	64	0.0156	21	c.207 others(42): Show c.2078-40432_2078-40431insAAGGAGGAGGAGGAGGAGGAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124706900	G G	GGAGAAGG others(14): Show GGAGAAGGAGAAGAGGAAGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0038 a0002c0008t0001g0038	1	64	0.0156	21	c.207 others(42): Show c.2078-40329_2078-40328insGAGAAGGAGAAGAGGAAGAGA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23			chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124707140	G G	GGAAGAAG others(14): Show GGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA20300.hp1 HG02145.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0002 a0002c0008t0001 a0001c0001t0002 a0002c0008t0001	a0001c0001t0002g0022 a0002c0008t0001g0038 a0001c0001t0002g0022 a0002c0008t0001g0038	2	64	0.0313	21	c.207 others(42): Show c.2078-40043_2078-40023dupGAAGAAGAAGAAGAAGAAGAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124721514	T T	TAAATAAA others(14): Show TAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02970.hp2 HG03453.hp1 others(1): Show HG02886.hp1 HG02970.hp2 HG03453.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0002t0003	a0001c0001t0001g0011 a0001c0001t0003g0006 a0001c0001t0013g0041 others(1): Show a0001c0001t0001g0011 a0001c0001t0003g0006 a0001c0001t0013g0041 a0001c0002t0003g0004	4	64	0.0625	21	c.207 others(42): Show c.2078-25706_2078-25705insAATAAATAAATAAAATAAATA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COA1_chr7_43634257_43734523	43664103	A A	AGAGAGAG others(14): Show AGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03834.hp1 HG03516.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0071 a0001c0001t0001g0035 a0001c0001t0001g0071	2	384	0.0052	21	c.-38 others(40): Show c.-38-15452_-38-15451insCTCTCTCTCTCTCTCTCTCTC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA6_chr1_234368456_234390080	234370410	A A	ACCTTTTT others(14): Show ACCTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02922.hp2 HG02965.hp2 others(1): Show HG02630.hp1 HG02922.hp2 HG02965.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0099	4	406	0.0099	21	c.-30 others(32): Show c.-3057_-3056insCCTTTTTTTTTTTTTTTTTTT	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding		3045		chr1	TogoVar
COA6_chr1_234368456_234390080	234370412	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01433.hp1 HG03704.hp2 others(2): Show HG01168.hp2 HG01433.hp1 HG03704.hp2 HG04115.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0002g0003 others(2): Show a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0002g0003 a0002c0002t0001g0016 a0002c0002t0001g0151	5	406	0.0123	21	c.-30 others(32): Show c.-3055_-3054insTTTTTTTTTTTTTTTTTTTTT	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding		3043		chr1	TogoVar
COBL_chr7_51011212_51321809	51070425	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0190 a0002c0003t0001g0190	1	230	0.0044	21	c.109 others(42): Show c.1096+14740_1096+14741insGTGTGTGTGTGTGTGTGTGTG	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COCH_chr14_30869559_30895618	30882120	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03704.hp1 HG01243.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0238 a0001c0001t0002g0191 a0001c0001t0002g0238	2	478	0.0042	21	c.629 others(38): Show c.629+1393_629+1413dupTTTTTTTTTTTTTTTTTTTTT	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(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	478	0.0021	21	c.52 others(32): Show c.5262_*5263insAAAAAAAAAAAAAAAAAAAAA	COCH	ENSG00000100473.18	transcript	ENST00000396618.9	protein_coding		4436		chr14	TogoVar
COG1_chr17_73188055_73213507	73207092	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0104 a0002c0001t0001g0104	1	428	0.0023	21	c.273 others(36): Show c.2730-87_2730-67dupAAAAAAAAAAAAAAAAAAAAA	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
COG3_chr13_45459939_45541701	45486289	T T	TCGGGAGA others(14): Show TCGGGAGACGGGAGACGGGAGA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0012 a0002c0004t0001g0012	1	342	0.0029	21	c.844 others(36): Show c.844-170_844-150dupCGGGAGACGGGAGACGGGAGA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45497784	T T	TCAACAAC others(14): Show TCAACAACAACAACAACAACAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0186 a0002c0003t0002g0186	1	342	0.0029	21	c.148 others(40): Show c.1488+1488_1488+1508dupCAACAACAACAACAACAACAA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45508068	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0197 a0003c0006t0004g0197	1	342	0.0029	21	c.159 others(40): Show c.1595-1613_1595-1593dupAAAAAAAAAAAAAAAAAAAAA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39651677	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	370	0.0027	21	c.-40 others(32): Show c.-4050_-4049insTTTTTTTTTTTTTTTTTTTTT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding		3984		chr13	TogoVar
COG6_chr13_39650662_39757628	39730773	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	370	0.0027	21	c.182 others(40): Show c.1826+3231_1826+3251dupAAAAAAAAAAAAAAAAAAAAA	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL11A2_chr6_33157694_33197467	33194092	G G	GCCCCTTC others(14): Show GCCCCTTCACCACCACCACCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02922.hp1 HG02965.hp2 others(2): Show HG01123.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0023 a0001c0008t0003g0053 a0001c0008t0003g0023 a0001c0008t0003g0053	5	367	0.0136	21	c.-18 others(32): Show c.-1873_-1853dupGTGGTGGTGGTGGTGAAGGGG	COL11A2	ENSG00000204248.12	transcript	ENST00000341947.7	protein_coding		1626		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208158	C C	CTCTCTCT others(14): Show CTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG04204.hp1 HG01243.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0153 a0001c0001t0001g0070 a0001c0001t0001g0153	2	206	0.0097	21	c.-24 others(32): Show c.-2418_-2417insAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2106		chr6	TogoVar
COL13A1_chr10_69796906_69964144	69933135	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03669.hp2 HG03654.hp1 HG03669.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0005 a0001c0004t0001 a0001c0004t0005	a0001c0004t0001g0227 a0001c0004t0005g0248 a0001c0004t0001g0227 a0001c0004t0005g0248	2	324	0.0062	21	c.172 others(38): Show c.1728+543_1728+563dupAAAAAAAAAAAAAAAAAAAAA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	31/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL15A1_chr9_98938907_99075787	98972858	G G	GAGAGCCA others(14): Show GAGAGCCACAAGGAAAGCTTGA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0235 a0002c0002t0001g0235	1	310	0.0032	21	c.101 others(40): Show c.101-12705_101-12685dupGAGCCACAAGGAAAGCTTGAA	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL15A1_chr9_98938907_99075787	99024268	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18944.hp2 NA18950.hp1 others(5): Show HG04204.hp1 NA18944.hp2 NA18950.hp1 NA18991.hp2 NA18999.hp1 NA19010.hp1 NA19078.hp1 NA19087.hp1	a0002 a0029 a0002 a0029	a0002c0002 a0002c0003 a0029c0072 a0002c0002 a0002c0003 a0029c0072	a0002c0002t0001 a0002c0003t0002 a0029c0072t0001 a0002c0002t0001 a0002c0003t0002 a0029c0072t0001	a0002c0002t0001g0043 a0002c0002t0001g0066 a0002c0002t0001g0076 others(5): Show a0002c0002t0001g0043 a0002c0002t0001g0066 a0002c0002t0001g0076 a0002c0002t0001g0176 a0002c0002t0001g0235 a0002c0002t0001g0305 a0002c0003t0002g0241 a0029c0072t0001g0034	8	310	0.0258	21	c.185 others(38): Show c.1855-598_1855-597insTTTTTTTTTTTTTTTTTTTTT	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(14): Show GTTTTTTTTTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01981.hp2 HG02004.hp1 HG01928.hp1 HG01981.hp2 HG02004.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0029 a0005c0015t0001g0154 a0005c0015t0001g0273 a0005c0015t0001g0029 a0005c0015t0001g0154 a0005c0015t0001g0273	3	310	0.0097	21	c.365 others(38): Show c.3652-272_3652-271insGTTTTTTTTTTTTTTTTTTTT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	39/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL15A1_chr9_98938907_99075787	99066599	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG01175.hp1 others(18): Show HG00280.hp1 HG00558.hp1 HG01175.hp1 HG02040.hp1 HG02055.hp2 HG02074.hp1 NA18939.hp2 NA18944.hp2 NA18946.hp2 NA18955.hp2 NA18967.hp2 NA18981.hp1 NA18981.hp2 NA18999.hp1 NA19009.hp2 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19084.hp2 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0014 a0029 a0033 a0034 a0039	a0001c0013 a0001c0031 a0002c0002 others(9): Show a0001c0013 a0001c0031 a0002c0002 a0002c0010 a0003c0006 a0014c0020 a0014c0049 a0029c0072 a0029c0073 a0033c0038 a0034c0042 a0039c0050	a0001c0013t0001 a0001c0031t0001 a0002c0002t0001 others(9): Show a0001c0013t0001 a0001c0031t0001 a0002c0002t0001 a0002c0010t0001 a0003c0006t0001 a0014c0020t0001 a0014c0049t0001 a0029c0072t0001 a0029c0073t0001 a0033c0038t0001 a0034c0042t0001 a0039c0050t0001	a0001c0013t0001g0068 a0001c0013t0001g0257 a0001c0031t0001g0157 others(18): Show a0001c0013t0001g0068 a0001c0013t0001g0257 a0001c0031t0001g0157 a0002c0002t0001g0076 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0178 a0002c0002t0001g0281 a0002c0002t0001g0302 a0002c0010t0001g0021 a0002c0010t0001g0161 a0003c0006t0001g0269 a0014c0020t0001g0294 a0014c0049t0001g0300 a0029c0072t0001g0034 a0029c0073t0001g0162 a0033c0038t0001g0028 a0034c0042t0001g0133 a0039c0050t0001g0183	21	310	0.0677	21	c.365 others(38): Show c.3652-278_3652-258dupTTTTTTTTTTTTTTTTTTTTT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	39/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL16A1_chr1_31647263_31709017	31707389	C C	CTTTTCTT others(14): Show CTTTTCTTTTCTTTTCTTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp2 NA19087.hp1 NA18970.hp1 NA18970.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0205 a0001c0003t0001g0203 a0001c0003t0001g0233 a0001c0001t0001g0205 a0001c0003t0001g0203 a0001c0003t0001g0233	3	342	0.0088	21	c.-35 others(32): Show c.-3588_-3587insAGAAAAGAAAAGAAAAGAAAA	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		3373		chr1	TogoVar
COL19A1_chr6_69861556_70217468	69896543	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0004 a0002c0009t0004	a0002c0009t0004g0128 a0002c0009t0004g0128	1	182	0.0055	21	c.92- others(36): Show c.92-2397_92-2377dupAAAAAAAAAAAAAAAAAAAAA	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	2/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	69921016	T T	TATATATA others(14): Show TATATATATTCATATATATATC	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18948.hp1 NA18966.hp1 others(3): Show HG00408.hp1 NA18948.hp1 NA18966.hp1 NA18997.hp2 NA19010.hp2 NA19074.hp1	a0002 a0006 a0002 a0006	a0002c0003 a0002c0006 a0002c0011 others(1): Show a0002c0003 a0002c0006 a0002c0011 a0006c0023	a0002c0003t0002 a0002c0006t0003 a0002c0006t0007 others(2): Show a0002c0003t0002 a0002c0006t0003 a0002c0006t0007 a0002c0011t0005 a0006c0023t0042	a0002c0003t0002g0100 a0002c0003t0002g0103 a0002c0006t0003g0098 others(3): Show a0002c0003t0002g0100 a0002c0003t0002g0103 a0002c0006t0003g0098 a0002c0006t0007g0101 a0002c0011t0005g0142 a0006c0023t0042g0095	6	182	0.0330	21	c.267 others(38): Show c.267-6875_267-6874insATCATATATATTCATATATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL22A1_chr8_138583235_138919041	138658866	A A	ATCTTCTC others(14): Show ATCTTCTCTCTTCTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp2 HG02896.hp2 others(1): Show HG02486.hp2 HG02572.hp2 HG02896.hp2 NA19240.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0016 a0003c0031 others(1): Show a0001c0001 a0001c0016 a0003c0031 a0010c0030	a0001c0001t0001 a0001c0016t0001 a0003c0031t0004 others(1): Show a0001c0001t0001 a0001c0016t0001 a0003c0031t0004 a0010c0030t0004	a0001c0001t0001g0083 a0001c0016t0001g0097 a0003c0031t0004g0031 others(1): Show a0001c0001t0001g0083 a0001c0016t0001g0097 a0003c0031t0004g0031 a0010c0030t0004g0021	4	158	0.0253	21	c.328 others(40): Show c.3285+1549_3285+1569dupGAGAAGAGAGAAGAGAGAAGA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	44/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138663036	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0151 a0001c0002t0005g0151	1	158	0.0063	21	c.318 others(38): Show c.3186+668_3186+669insGTGTGTGTGTGTGTGTGTGTG	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	42/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178403108	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0026	1	236	0.0042	21	c.362 others(40): Show c.362-96190_362-96189insTTTTTTTTTTTTTTTTTTTTT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	85799211	A A	AAAAAAAA others(14): Show AAAAAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0002 a0008c0006t0002	a0008c0006t0002g0055 a0008c0006t0002g0055	1	238	0.0042	21	c.395 others(42): Show c.3952-12751_3952-12750insCTTTCTTTCTTTCTTTTTTTT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	47/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85799211	A A	AAAAAGAA others(14): Show AAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0185 a0005c0004t0002g0185	1	238	0.0042	21	c.395 others(42): Show c.3952-12751_3952-12750insCTTTCTTTCTTTCTTTCTTTT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	47/59			chr1	TogoVar
COL25A1_chr4_108803725_109307658	108873522	C C	CTAGTAGT others(14): Show CTAGTAGTAGTAGTAGTAGTAG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	130	0.0077	21	c.102 others(40): Show c.1021-4393_1021-4373dupCTACTACTACTACTACTACTA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	19/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109203747	T T	TAAAAGTA others(14): Show TAAAAGTAAAAAAAATAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03704.hp2 HG03710.hp2 others(1): Show HG00558.hp2 HG03704.hp2 HG03710.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0007 a0001c0004t0004 a0001c0001t0001 a0001c0002t0007 a0001c0004t0004	a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0002t0007g0115 others(1): Show a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0002t0007g0115 a0001c0004t0004g0027	4	130	0.0308	21	c.367 others(40): Show c.367+96835_367+96836insTTTTTTATTTTTTTTACTTTT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109218357	G G	GTTTTTTT others(14): Show GTTTTTTTTTTGTTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01071.hp1 HG02486.hp1 others(3): Show HG00735.hp1 HG01071.hp1 HG02486.hp1 HG03471.hp1 HG03579.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0001c0004t0029	a0001c0001t0001g0041 a0001c0001t0001g0080 a0001c0001t0002g0054 others(3): Show a0001c0001t0001g0041 a0001c0001t0001g0080 a0001c0001t0002g0054 a0001c0002t0001g0039 a0001c0004t0001g0128 a0001c0004t0029g0095	6	130	0.0462	21	c.367 others(40): Show c.367+82225_367+82226insAAAAAACAAACAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109218357	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02523.hp1 NA18998.hp2 others(2): Show HG00735.hp2 HG02523.hp1 NA18998.hp2 NA19079.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0002t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0004 a0001c0002t0010 a0001c0003t0004	a0001c0001t0002g0120 a0001c0001t0003g0005 a0001c0002t0004g0028 others(2): Show a0001c0001t0002g0120 a0001c0001t0003g0005 a0001c0002t0004g0028 a0001c0002t0010g0030 a0001c0003t0004g0026	5	130	0.0385	21	c.367 others(40): Show c.367+82225_367+82226insAAAAAACAAAAAAAAAAAAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar

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