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
CNTNAP5_chr2_124020287_124926219	124510477	GTATATAT others(9): Show GTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0014 a0001c0001t0020g0014	1	64	0.0156	-16	c.132 others(35): Show c.1327+5948_1327+5963delTATATATATATATATA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124565574	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02886.hp1 HG02922.hp1 others(5): Show HG02293.hp1 HG02886.hp1 HG02922.hp1 HG03098.hp1 HG03453.hp1 HG03471.hp1 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011	a0001c0001t0001g0002 a0001c0001t0002g0050 a0001c0001t0003g0006 others(5): Show a0001c0001t0001g0002 a0001c0001t0002g0050 a0001c0001t0003g0006 a0001c0002t0001g0054 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0003g0004 a0001c0002t0011g0029	8	64	0.1250	-16	c.175 others(35): Show c.1756+2279_1756+2294delTTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124603002	TCTCCCTC others(9): Show TCTCCCTCCCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02886.hp2 HG03471.hp2 HG02257.hp1 HG02886.hp2 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0001 a0001c0002t0012 a0003c0007t0001 a0001c0002t0001 a0001c0002t0012 a0003c0007t0001	a0001c0002t0001g0063 a0001c0002t0012g0018 a0003c0007t0001g0017 a0001c0002t0001g0063 a0001c0002t0012g0018 a0003c0007t0001g0017	3	64	0.0469	-16	c.175 others(35): Show c.1757-6788_1757-6773delCCCTCCCTCCCTCCCT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124619842	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01261.hp1 HG01261.hp2 others(7): Show HG01070.hp2 HG01261.hp1 HG01261.hp2 HG02293.hp2 HG02451.hp2 HG02698.hp1 HG02723.hp2 HG03704.hp2 NA19000.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0005 a0001c0001 a0001c0002 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0005c0005t0001	a0001c0001t0001g0026 a0001c0001t0002g0027 a0001c0001t0002g0049 others(7): Show a0001c0001t0001g0026 a0001c0001t0002g0027 a0001c0001t0002g0049 a0001c0001t0014g0037 a0001c0001t0020g0014 a0001c0002t0001g0054 a0001c0002t0002g0034 a0001c0002t0006g0028 a0001c0002t0007g0009 a0005c0005t0001g0008	10	64	0.1563	-16	c.187 others(35): Show c.1876+9950_1876+9965delTATATATATATATATA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124661045	GTGAGGCA others(9): Show GTGAGGCAGAGAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02717.hp1 HG02723.hp1 others(4): Show HG02145.hp1 HG02717.hp1 HG02723.hp1 HG02886.hp1 HG03453.hp1 HG03471.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0010	a0001c0001t0001g0033 a0001c0001t0003g0006 a0001c0002t0001g0005 others(4): Show a0001c0001t0001g0033 a0001c0001t0003g0006 a0001c0002t0001g0005 a0001c0002t0002g0030 a0001c0002t0003g0004 a0001c0002t0003g0056 a0001c0002t0010g0032	7	64	0.1094	-16	c.207 others(37): Show c.2077+13091_2077+13106delGGCAGAGAGGGAATGA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124674509	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03139.hp2 HG02897.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0007 a0001c0001t0009	a0001c0001t0007g0039 a0001c0001t0009g0061 a0001c0001t0007g0039 a0001c0001t0009g0061	2	64	0.0313	-16	c.207 others(37): Show c.2077+26580_2077+26595delTCTTTCTTTCTTTCTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124707124	AAGAAGAA others(9): Show AAGAAGAAGAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	64	0.0156	-16	c.207 others(37): Show c.2078-40104_2078-40089delAGAAGAAGAAGAAGAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23			chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124713302	TTCTTTCT others(9): Show TTCTTTCTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	64	0.0156	-16	c.207 others(37): Show c.2078-33926_2078-33911delTCTTTCTCTTTCTTTC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23			chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124713318	CCTTTCTT others(9): Show CCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03098.hp1 NA21309.hp1 HG00423.hp1 HG03098.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0002g0019 a0001c0001t0003g0057 a0001c0001t0001g0002 a0001c0001t0002g0019 a0001c0001t0003g0057	3	64	0.0469	-16	c.207 others(37): Show c.2078-33863_2078-33848delTCTTTCTTTCTTTCTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124773935	TGTGTGTG others(9): Show TGTGTGTGTGTGTGAGA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03139.hp1 HG03225.hp2 HG02257.hp2 HG03139.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0005 a0001c0002t0016 a0001c0001t0005 a0001c0002t0005 a0001c0002t0016	a0001c0001t0005g0040 a0001c0002t0005g0045 a0001c0002t0016g0055 a0001c0001t0005g0040 a0001c0002t0005g0045 a0001c0002t0016g0055	3	64	0.0469	-16	c.275 others(33): Show c.2752+920_2752+935delTGTGTGTGTGTGAGAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124786336	AAAGAAAG others(9): Show AAAGAAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	64	0.0156	-16	c.275 others(35): Show c.2753-3550_2753-3535delGAAGAAAGAAAGAAAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124786386	AGAAAGAA others(9): Show AGAAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03139.hp2 HG03453.hp1 HG02886.hp1 HG03139.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0009 a0001c0002t0003 a0001c0001t0003 a0001c0001t0009 a0001c0002t0003	a0001c0001t0003g0006 a0001c0001t0009g0061 a0001c0002t0003g0004 a0001c0001t0003g0006 a0001c0001t0009g0061 a0001c0002t0003g0004	3	64	0.0469	-16	c.275 others(35): Show c.2753-3512_2753-3497delAGAAAGAAAGAAGGAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124786390	AGAAAGAA others(9): Show AGAAAGAAAGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0013 a0004c0006t0001g0013	1	64	0.0156	-16	c.275 others(35): Show c.2753-3508_2753-3493delAGAAAGAAGGAAGGAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124804996	CCTCTTTG others(9): Show CCTCTTTGTATGAAATA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA20300.hp1 HG02922.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0022 a0001c0001t0002g0023	2	64	0.0313	-16	c.321 others(35): Show c.3217+6698_3217+6713delTGTATGAAATACTCTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124855167	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp2 HG02897.hp1 others(2): Show HG02145.hp2 HG02723.hp2 HG02897.hp1 HG02970.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 a0001c0001 a0001c0002 a0002c0008	a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0002c0008t0001	a0001c0001t0007g0039 a0001c0002t0001g0064 a0001c0002t0002g0060 others(2): Show a0001c0001t0007g0039 a0001c0002t0001g0064 a0001c0002t0002g0060 a0001c0002t0007g0009 a0002c0008t0001g0038	5	64	0.0781	-16	c.321 others(37): Show c.3218-10125_3218-10110delTTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124860436	CTTCCTTC others(9): Show CTTCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	64	0.0156	-16	c.321 others(35): Show c.3218-4854_3218-4839delTTTCCTTCCTTCCTTC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124860488	CTTCCTTC others(9): Show CTTCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0034 a0001c0002t0002g0034	1	64	0.0156	-16	c.321 others(35): Show c.3218-4802_3218-4787delTTTCCTTCCTTCCTTC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTRL_chr9_121069955_121182610	121070384	GATATATA others(9): Show GATATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(61): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00609.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01978.hp1 HG01993.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02155.hp1 HG02257.hp2 HG02486.hp2 HG02683.hp1 HG02683.hp2 HG03017.hp1 HG03239.hp2 HG03492.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 NA18941.hp2 NA18943.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18959.hp2 NA18964.hp1 NA18967.hp1 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18985.hp1 NA18990.hp1 NA18999.hp1 NA19003.hp1 NA19006.hp1 NA19007.hp2 NA19060.hp1 NA19070.hp1 NA19076.hp1 NA19083.hp1 NA19084.hp1 NA20300.hp1 NA20905.hp2	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0012 a0016	a0002c0002 a0002c0023 a0003c0003 others(3): Show a0002c0002 a0002c0023 a0003c0003 a0005c0008 a0012c0025 a0016c0020	a0002c0002t0001 a0002c0002t0002 a0002c0023t0001 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0023t0001 a0003c0003t0001 a0005c0008t0001 a0012c0025t0001 a0016c0020t0001	a0002c0002t0001g0006 a0002c0002t0001g0022 a0002c0002t0001g0034 others(60): Show a0002c0002t0001g0006 a0002c0002t0001g0022 a0002c0002t0001g0034 a0002c0002t0001g0037 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0075 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0110 a0002c0002t0001g0112 a0002c0002t0001g0120 a0002c0002t0002g0114 a0002c0023t0001g0092 a0003c0003t0001g0117 a0003c0003t0001g0118 a0005c0008t0001g0062 a0005c0008t0001g0073 a0005c0008t0001g0076 a0005c0008t0001g0077 a0005c0008t0001g0094 a0012c0025t0001g0111 a0016c0020t0001g0115	64	330	0.1939	-16	c.-48 others(27): Show c.-4887_-4872delATATATATATATATAT	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding		4570		chr9	TogoVar
COA1_chr7_43634257_43734523	43644782	GCAGGCAG others(9): Show GCAGGCAGGCAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01243.hp1 HG01978.hp1 others(4): Show HG00733.hp2 HG01243.hp1 HG01978.hp1 HG02886.hp2 HG02976.hp1 HG03098.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0118 a0001c0001t0001g0124 others(4): Show a0001c0001t0001g0034 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0148	7	384	0.0182	-16	c.264 others(31): Show c.264+453_264+468delTCTCTCTGCCTGCCTG	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691062	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0368 a0001c0001t0001g0368	1	384	0.0026	-16	c.-39 others(35): Show c.-39+38351_-39+38366delGTTTTTTTTTTTTTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691265	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0338 a0001c0001t0002g0338	1	384	0.0026	-16	c.-39 others(35): Show c.-39+38148_-39+38163delCTTTCTTTCTTTCTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691340	AGAGGGAG others(9): Show AGAGGGAGGGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp2 HG01074.hp2 others(35): Show HG00423.hp1 HG00642.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01884.hp1 HG01943.hp1 HG02132.hp1 HG02155.hp1 HG02738.hp1 HG02818.hp2 HG03834.hp1 NA18943.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18952.hp1 NA18955.hp1 NA18956.hp1 NA18971.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18992.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19065.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19240.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0002c0003t0001 a0001c0001t0001 a0001c0001t0006 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0032 others(34): Show a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0006g0379 a0002c0003t0001g0108	38	384	0.0990	-16	c.-39 others(35): Show c.-39+38073_-39+38088delCCTCCCTCCCTCCCTC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691365	GAGGGAGG others(9): Show GAGGGAGGGAGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02055.hp1 HG02717.hp1 others(7): Show HG02040.hp1 HG02055.hp1 HG02717.hp1 HG03486.hp1 HG03516.hp1 HG03654.hp1 NA18962.hp2 NA19043.hp1 NA19086.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(7): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0001g0238 a0001c0001t0001g0365	10	384	0.0260	-16	c.-39 others(35): Show c.-39+38048_-39+38063delTCCTCCCTCCCTCCCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691369	GAGGGAGG others(9): Show GAGGGAGGGAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02615.hp2 HG01261.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0258 a0001c0001t0001g0237 a0001c0001t0001g0258	2	384	0.0052	-16	c.-39 others(35): Show c.-39+38044_-39+38059delTCCTTCCTCCCTCCCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691373	GAGGGAGG others(9): Show GAGGGAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02970.hp1 NA18959.hp2 HG01496.hp1 HG02970.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0188 a0001c0001t0001g0198 a0001c0001t0001g0172 a0001c0001t0001g0188 a0001c0001t0001g0198	3	384	0.0078	-16	c.-39 others(35): Show c.-39+38040_-39+38055delTCCTTCCTTCCTCCCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691421	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp2 HG00741.hp1 others(23): Show HG00423.hp1 HG00642.hp2 HG00741.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01175.hp1 HG01993.hp2 HG02155.hp1 HG03041.hp1 HG03486.hp1 HG03540.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18977.hp2 NA18989.hp1 NA18999.hp1 NA19004.hp2 NA19074.hp2 NA19081.hp2 NA19088.hp1 NA19240.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0002c0003t0001 a0001c0001t0001 a0001c0001t0006 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0028 others(22): Show a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0251 a0001c0001t0006g0379 a0002c0003t0001g0108	26	384	0.0677	-16	c.-39 others(35): Show c.-39+37992_-39+38007delCTTTCTTTCTTTCTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA3_chr17_42792625_42803704	42801533	ATATATAT others(9): Show ATATATATATATATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	310	0.0032	-16	c.-28 others(27): Show c.-2868_-2853delATTATATATATATATA	COA3	ENSG00000183978.8	transcript	ENST00000328434.8	protein_coding		2830		chr17	TogoVar
COBLL1_chr2_164675188_164846823	164725119	TATATATA others(9): Show TATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0034 a0001c0002t0034g0034	1	212	0.0047	-16	c.662 others(33): Show c.662-2613_662-2598delTTATATATATATATAT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	5/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805287	GTCTCTCT others(9): Show GTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18747.hp1 NA18942.hp2 others(3): Show HG00609.hp2 NA18747.hp1 NA18942.hp2 NA18955.hp1 NA18970.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 others(3): Show a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0105	6	212	0.0283	-16	c.41+ others(33): Show c.41+35853_41+35868delGAGAGAGAGAGAGAGA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805323	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA19056.hp2 HG03704.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0040 a0001c0001t0001 a0001c0001t0040	a0001c0001t0001g0095 a0001c0001t0040g0082 a0001c0001t0001g0095 a0001c0001t0040g0082	2	212	0.0094	-16	c.41+ others(33): Show c.41+35817_41+35832delTAGAGAGAGAGAGAGA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805325	CTCTCTCT others(9): Show CTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA18972.hp1 NA19091.hp1 HG00280.hp2 NA18972.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0020g0106 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0020g0106	3	212	0.0142	-16	c.41+ others(33): Show c.41+35815_41+35830delTATAGAGAGAGAGAGA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805327	CTCTCTCT others(9): Show CTCTCTCTCTCTATATA	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG03831.hp2 HG02004.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0052 a0001c0001t0001 a0001c0015t0052	a0001c0001t0001g0089 a0001c0015t0052g0081 a0001c0001t0001g0089 a0001c0015t0052g0081	2	212	0.0094	-16	c.41+ others(33): Show c.41+35813_41+35828delTATATAGAGAGAGAGA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51018905	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03453.hp1 HG03516.hp2 others(1): Show HG02615.hp2 HG03453.hp1 HG03516.hp2 NA18950.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0049 a0002c0065 others(1): Show a0001c0002 a0002c0049 a0002c0065 a0004c0009	a0001c0002t0002 a0002c0049t0001 a0002c0065t0001 others(1): Show a0001c0002t0002 a0002c0049t0001 a0002c0065t0001 a0004c0009t0005	a0001c0002t0002g0133 a0002c0049t0001g0046 a0002c0065t0001g0059 others(1): Show a0001c0002t0002g0133 a0002c0049t0001g0046 a0002c0065t0001g0059 a0004c0009t0005g0222	4	230	0.0174	-16	c.376 others(35): Show c.3769-1353_3769-1338delATATATATATATATAT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	12/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51024653	GTGAATGA others(9): Show GTGAATGAATGAATGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(55): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00597.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01109.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01517.hp1 HG01517.hp2 HG02004.hp1 HG02056.hp1 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02895.hp1 HG02897.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG06807.hp1 NA18612.hp1 NA18943.hp2 NA18950.hp1 NA18951.hp2 NA18963.hp2 NA18964.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19003.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19055.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0009 a0017 a0022 a0034	a0001c0004 a0002c0003 a0002c0007 others(12): Show a0001c0004 a0002c0003 a0002c0007 a0002c0019 a0002c0026 a0002c0028 a0003c0001 a0003c0011 a0004c0009 a0004c0010 a0004c0037 a0009c0012 a0017c0038 a0022c0047 a0034c0053	a0001c0004t0001 a0002c0003t0001 a0002c0007t0001 others(13): Show a0001c0004t0001 a0002c0003t0001 a0002c0007t0001 a0002c0019t0001 a0002c0026t0001 a0002c0028t0001 a0003c0001t0001 a0003c0001t0013 a0003c0011t0001 a0004c0009t0001 a0004c0010t0001 a0004c0037t0001 a0009c0012t0001 a0017c0038t0001 a0022c0047t0001 a0034c0053t0001	a0001c0004t0001g0119 a0001c0004t0001g0141 a0001c0004t0001g0193 others(55): Show a0001c0004t0001g0119 a0001c0004t0001g0141 a0001c0004t0001g0193 a0001c0004t0001g0195 a0001c0004t0001g0197 a0001c0004t0001g0225 a0002c0003t0001g0083 a0002c0003t0001g0088 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0157 a0002c0003t0001g0190 a0002c0003t0001g0192 a0002c0007t0001g0174 a0002c0007t0001g0178 a0002c0019t0001g0031 a0002c0026t0001g0209 a0002c0026t0001g0211 a0002c0028t0001g0007 a0002c0028t0001g0128 a0003c0001t0001g0009 a0003c0001t0001g0018 a0003c0001t0001g0025 a0003c0001t0001g0029 a0003c0001t0001g0030 a0003c0001t0001g0034 a0003c0001t0001g0113 a0003c0001t0001g0118 a0003c0001t0001g0123 a0003c0001t0001g0149 a0003c0001t0001g0199 a0003c0001t0001g0202 a0003c0001t0001g0203 a0003c0001t0001g0210 a0003c0001t0001g0215 a0003c0001t0001g0216 a0003c0001t0001g0218 a0003c0001t0001g0220 a0003c0001t0001g0228 a0003c0001t0013g0186 a0003c0011t0001g0049 a0003c0011t0001g0056 a0003c0011t0001g0068 a0003c0011t0001g0198 a0004c0009t0001g0005 a0004c0009t0001g0017 a0004c0009t0001g0055 a0004c0010t0001g0089 a0004c0010t0001g0129 a0004c0037t0001g0175 a0009c0012t0001g0188 a0009c0012t0001g0189 a0009c0012t0001g0194 a0009c0012t0001g0206 a0009c0012t0001g0208 a0017c0038t0001g0154 a0022c0047t0001g0217 a0034c0053t0001g0095	58	230	0.2522	-16	c.376 others(33): Show c.3768+440_3768+455delTTCATTCATTCATTCA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	12/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51036336	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0029 a0029	a0029c0042 a0029c0042	a0029c0042t0001 a0029c0042t0001	a0029c0042t0001g0166 a0029c0042t0001g0166	1	230	0.0044	-16	c.140 others(35): Show c.1407-5443_1407-5428delTTTTTTTTTTTTTTTT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	8/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51108942	ACACACAC others(9): Show ACACACACACACACACC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02809.hp1 HG02809.hp2 others(1): Show HG02258.hp1 HG02809.hp1 HG02809.hp2 NA21309.hp2	a0001 a0008 a0010 a0001 a0008 a0010	a0001c0015 a0008c0060 a0010c0030 others(1): Show a0001c0015 a0008c0060 a0010c0030 a0010c0064	a0001c0015t0001 a0008c0060t0008 a0010c0030t0001 others(1): Show a0001c0015t0001 a0008c0060t0008 a0010c0030t0001 a0010c0064t0011	a0001c0015t0001g0169 a0008c0060t0008g0061 a0010c0030t0001g0114 others(1): Show a0001c0015t0001g0169 a0008c0060t0008g0061 a0010c0030t0001g0114 a0010c0064t0011g0062	4	230	0.0174	-16	c.958 others(35): Show c.958-23654_958-23639delGGTGTGTGTGTGTGTG	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51155589	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0073 a0004c0010t0002g0073	1	230	0.0044	-16	c.784 others(35): Show c.784-19274_784-19259delTTTTTTTTTTTTTTTT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	5/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51177775	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02818.hp1 HG02896.hp2 others(1): Show HG02622.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0076 a0003c0016t0001g0077 a0003c0016t0001g0079 others(1): Show a0003c0016t0001g0076 a0003c0016t0001g0077 a0003c0016t0001g0079 a0003c0016t0001g0080	4	230	0.0174	-16	c.783 others(33): Show c.783+6311_783+6326delATTTATTTATTTATTT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	5/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51214272	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp2 HG02615.hp2 others(5): Show HG01884.hp1 HG02451.hp2 HG02615.hp2 HG02818.hp2 HG02922.hp1 HG02976.hp1 HG03486.hp1 HG06807.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0012 a0033	a0001c0004 a0002c0003 a0002c0049 others(3): Show a0001c0004 a0002c0003 a0002c0049 a0003c0001 a0012c0024 a0033c0044	a0001c0004t0001 a0001c0004t0007 a0002c0003t0001 others(4): Show a0001c0004t0001 a0001c0004t0007 a0002c0003t0001 a0002c0049t0001 a0003c0001t0005 a0012c0024t0001 a0033c0044t0010	a0001c0004t0001g0183 a0001c0004t0007g0016 a0002c0003t0001g0047 others(5): Show a0001c0004t0001g0183 a0001c0004t0007g0016 a0002c0003t0001g0047 a0002c0049t0001g0046 a0003c0001t0005g0043 a0003c0001t0005g0044 a0012c0024t0001g0042 a0033c0044t0010g0041	8	230	0.0348	-16	c.245 others(33): Show c.245+5453_245+5468delATTTATTTATTTATTT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	2/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51294295	CATAAATA others(9): Show CATAAATAAATAAATAA	C C	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18975.hp2 NA18981.hp2 others(2): Show NA18964.hp1 NA18975.hp2 NA18981.hp2 NA18988.hp1 NA19003.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0002c0003 others(1): Show a0001c0002 a0001c0004 a0002c0003 a0003c0001	a0001c0002t0002 a0001c0004t0001 a0001c0004t0003 others(2): Show a0001c0002t0002 a0001c0004t0001 a0001c0004t0003 a0002c0003t0002 a0003c0001t0001	a0001c0002t0002g0224 a0001c0004t0001g0225 a0001c0004t0003g0227 others(2): Show a0001c0002t0002g0224 a0001c0004t0001g0225 a0001c0004t0003g0227 a0002c0003t0002g0226 a0003c0001t0001g0228	5	230	0.0217	-16	c.41+ others(33): Show c.41+22282_41+22297delTTATTTATTTATTTAT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	1/12			chr7	TogoVar
COG3_chr13_45459939_45541701	45500092	GTGTATAT others(9): Show GTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00438.hp1 others(79): Show HG00099.hp1 HG00323.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp1 HG02165.hp2 HG02486.hp2 HG02602.hp2 HG02735.hp1 HG02818.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp2 HG04184.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18949.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp2 NA19010.hp1 NA19012.hp1 NA19064.hp1 NA19066.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA20129.hp2 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0008 a0005c0019 a0001c0001 a0001c0008 a0005c0019	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0008t0001 a0005c0019t0001	a0001c0001t0001g0003 a0001c0001t0001g0041 a0001c0001t0001g0043 others(78): Show a0001c0001t0001g0003 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0006g0064 a0001c0001t0008g0051 a0001c0008t0001g0121 a0005c0019t0001g0070	82	342	0.2398	-16	c.148 others(35): Show c.1489-3150_1489-3135delGTATATATATATATAT	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45500094	GTATATAT others(9): Show GTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02040.hp2 HG02071.hp2 others(15): Show HG01106.hp1 HG02040.hp2 HG02071.hp2 HG02698.hp1 NA18943.hp2 NA18951.hp1 NA18952.hp1 NA18957.hp2 NA18962.hp1 NA18968.hp2 NA18970.hp1 NA18974.hp1 NA18983.hp2 NA18986.hp1 NA19005.hp1 NA19011.hp1 NA19089.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0002t0001g0253 others(15): Show a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0002t0001g0253 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0280 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0291 a0001c0002t0001g0295 a0001c0002t0001g0297 a0001c0002t0001g0303	18	342	0.0526	-16	c.148 others(35): Show c.1489-3143_1489-3128delTATATATATATATATA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG8_chr16_69321428_69344564	69333055	TTGTGTCA others(9): Show TTGTGTCACTTTATTAA	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0130 a0001c0002t0004g0130	1	360	0.0028	-16	c.141 others(33): Show c.1414-189_1414-174delTTAATAAAGTGACACA	COG8	ENSG00000213380.16	transcript	ENST00000306875.10	protein_coding	3/5			chr16	TogoVar
COL11A1_chr1_102871473_103113522	103027396	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00735.hp1 HG00738.hp1 others(36): Show HG00408.hp1 HG00735.hp1 HG00738.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp2 HG01256.hp2 HG01358.hp1 HG01433.hp1 HG01517.hp1 HG01891.hp2 HG02027.hp2 HG02055.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04184.hp2 HG04228.hp1 NA18955.hp1 NA18966.hp1 NA18998.hp1 NA19057.hp2 NA19063.hp1 NA19075.hp1 NA19090.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0008 a0013 a0018	a0001c0006 a0002c0001 a0003c0003 others(6): Show a0001c0006 a0002c0001 a0003c0003 a0004c0014 a0006c0017 a0006c0039 a0008c0018 a0013c0030 a0018c0022	a0001c0006t0001 a0002c0001t0001 a0002c0001t0009 others(7): Show a0001c0006t0001 a0002c0001t0001 a0002c0001t0009 a0003c0003t0002 a0004c0014t0001 a0006c0017t0001 a0006c0039t0003 a0008c0018t0001 a0013c0030t0002 a0018c0022t0002	a0001c0006t0001g0034 a0002c0001t0001g0117 a0002c0001t0001g0121 others(36): Show a0001c0006t0001g0034 a0002c0001t0001g0117 a0002c0001t0001g0121 a0002c0001t0001g0125 a0002c0001t0001g0126 a0002c0001t0001g0128 a0002c0001t0001g0129 a0002c0001t0001g0134 a0002c0001t0001g0139 a0002c0001t0001g0145 a0002c0001t0001g0149 a0002c0001t0001g0153 a0002c0001t0001g0156 a0002c0001t0001g0162 a0002c0001t0001g0163 a0002c0001t0001g0181 a0002c0001t0009g0146 a0003c0003t0002g0030 a0003c0003t0002g0119 a0003c0003t0002g0120 a0003c0003t0002g0123 a0003c0003t0002g0124 a0003c0003t0002g0127 a0003c0003t0002g0133 a0003c0003t0002g0135 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0002g0141 a0003c0003t0002g0157 a0003c0003t0002g0165 a0004c0014t0001g0013 a0006c0017t0001g0024 a0006c0017t0001g0025 a0006c0017t0001g0026 a0006c0039t0003g0083 a0008c0018t0001g0023 a0008c0018t0001g0082 a0013c0030t0002g0158 a0018c0022t0002g0007	39	184	0.2120	-16	c.781 others(33): Show c.781-1080_781-1065delATATATATATATATAT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	5/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	103038095	GATGGAGG others(9): Show GATGGAGGTAAAATAGC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG00735.hp2 others(12): Show HG00408.hp2 HG00621.hp1 HG00735.hp2 HG02027.hp1 HG03704.hp2 HG03927.hp2 NA18942.hp2 NA18952.hp1 NA18955.hp2 NA18966.hp2 NA18977.hp1 NA18985.hp1 NA18998.hp2 NA19075.hp2 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0015 a0016	a0001c0005 a0002c0024 a0003c0023 others(3): Show a0001c0005 a0002c0024 a0003c0023 a0007c0015 a0015c0025 a0016c0027	a0001c0005t0005 a0001c0005t0012 a0002c0024t0002 others(4): Show a0001c0005t0005 a0001c0005t0012 a0002c0024t0002 a0003c0023t0002 a0007c0015t0005 a0015c0025t0005 a0016c0027t0005	a0001c0005t0005g0061 a0001c0005t0005g0070 a0001c0005t0005g0071 others(12): Show a0001c0005t0005g0061 a0001c0005t0005g0070 a0001c0005t0005g0071 a0001c0005t0005g0072 a0001c0005t0005g0074 a0001c0005t0005g0078 a0001c0005t0005g0080 a0001c0005t0012g0077 a0002c0024t0002g0075 a0003c0023t0002g0079 a0007c0015t0005g0112 a0007c0015t0005g0113 a0007c0015t0005g0114 a0015c0025t0005g0073 a0016c0027t0005g0076	15	184	0.0815	-16	c.652 others(33): Show c.652-6867_652-6852delGCTATTTTACCTCCAT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	4/66			chr1	TogoVar
COL12A1_chr6_75079326_75211053	75208168	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG03225.hp1 HG02630.hp2 HG03225.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0016 a0003c0003t0001 a0003c0003t0016	a0003c0003t0001g0167 a0003c0003t0016g0172 a0003c0003t0001g0167 a0003c0003t0016g0172	2	206	0.0097	-16	c.-24 others(27): Show c.-2443_-2428delCACACACACACACACA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2116		chr6	TogoVar
COL13A1_chr10_69796906_69964144	69804809	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00642.hp1 others(34): Show HG00099.hp1 HG00280.hp1 HG00642.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01257.hp2 HG01358.hp2 HG01928.hp2 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02602.hp2 HG02717.hp2 HG02886.hp1 HG02895.hp2 HG02965.hp1 HG03098.hp1 HG03688.hp1 HG03710.hp2 HG03942.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18954.hp2 NA18968.hp2 NA18971.hp1 NA18983.hp1 NA19065.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0011 a0001c0032 a0002c0005 a0009c0027	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0003t0001 a0001c0003t0002 a0001c0004t0002 a0001c0007t0001 a0001c0009t0001 a0001c0011t0001 a0001c0032t0001 a0002c0005t0001 a0002c0005t0002 a0009c0027t0002	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0194 others(34): Show a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0002t0001g0164 a0001c0002t0001g0169 a0001c0002t0001g0172 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0002g0165 a0001c0002t0014g0292 a0001c0003t0001g0191 a0001c0003t0002g0196 a0001c0004t0002g0173 a0001c0007t0001g0180 a0001c0009t0001g0179 a0001c0011t0001g0001 a0001c0032t0001g0170 a0002c0005t0001g0167 a0002c0005t0001g0168 a0002c0005t0001g0171 a0002c0005t0002g0166 a0009c0027t0002g0189	37	324	0.1142	-16	c.294 others(33): Show c.294+2110_294+2125delAAAAAAAAAAAAAAAA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69877699	TCACACAC others(9): Show TCACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA19002.hp1 NA20805.hp1 NA18939.hp1 NA19002.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0005 a0001c0001t0001 a0001c0002t0003 a0001c0002t0005	a0001c0001t0001g0065 a0001c0002t0003g0313 a0001c0002t0005g0256 a0001c0001t0001g0065 a0001c0002t0003g0313 a0001c0002t0005g0256	3	324	0.0093	-16	c.436 others(31): Show c.436-308_436-293delACACACACACACACAC	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	5/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69882372	AGCCTCTG others(9): Show AGCCTCTGCTCCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02027.hp2 HG03239.hp2 others(3): Show HG02015.hp2 HG02027.hp2 HG03239.hp2 NA18952.hp1 NA18952.hp2 NA18998.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0007 others(1): Show a0001c0003 a0001c0006 a0001c0007 a0001c0009	a0001c0003t0002 a0001c0006t0001 a0001c0007t0001 others(2): Show a0001c0003t0002 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0001c0009t0005	a0001c0003t0002g0105 a0001c0006t0001g0012 a0001c0007t0001g0180 others(3): Show a0001c0003t0002g0105 a0001c0006t0001g0012 a0001c0007t0001g0180 a0001c0009t0001g0179 a0001c0009t0001g0215 a0001c0009t0005g0239	6	324	0.0185	-16	c.513 others(33): Show c.513+1828_513+1843delTCCTCCCGGCCTCTGC	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	7/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69892020	ACACCGTC others(9): Show ACACCGTCCCTCTGCCC	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0283 a0001c0004t0002g0283	1	324	0.0031	-16	c.604 others(33): Show c.604-2528_604-2513delCGTCCCTCTGCCCCAC	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	10/40		INFO_REALIGN_3_PRIME	chr10	TogoVar

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