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
CNTNAP4_chr16_76272401_76565757	76522687	CTTTCTTT others(8): Show CTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG02132.hp2 others(5): Show HG00423.hp2 HG00597.hp1 HG02132.hp2 NA18943.hp2 NA19000.hp1 NA19004.hp1 NA19010.hp2 NA19080.hp2	a0001 a0006 a0012 a0001 a0006 a0012	a0001c0001 a0001c0004 a0006c0009 others(1): Show a0001c0001 a0001c0004 a0006c0009 a0012c0020	a0001c0001t0001 a0001c0001t0009 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0004t0001 a0006c0009t0001 a0012c0020t0009	a0001c0001t0001g0105 a0001c0001t0001g0123 a0001c0001t0009g0231 others(5): Show a0001c0001t0001g0105 a0001c0001t0001g0123 a0001c0001t0009g0231 a0001c0004t0001g0030 a0001c0004t0001g0087 a0001c0004t0001g0137 a0006c0009t0001g0023 a0012c0020t0009g0103	8	274	0.0292	-15	c.275 others(32): Show c.2755+508_2755+522delTCTTTTCTTTTCTTT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124086188	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	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	-15	c.82+ others(32): Show c.82+60468_82+60482delTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124255524	AAAAATAA others(8): Show AAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG01069.hp2 others(14): Show HG00423.hp1 HG00423.hp2 HG01069.hp2 HG01891.hp1 HG02451.hp2 HG02897.hp2 HG02922.hp2 HG03130.hp1 HG03139.hp2 HG03471.hp2 HG03704.hp2 NA19000.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0003 a0001c0001 a0001c0002 a0006c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0011 a0001c0002t0012 a0006c0003t0008	a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0002g0019 others(14): Show a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0003g0057 a0001c0001t0006g0025 a0001c0001t0009g0061 a0001c0001t0015g0036 a0001c0001t0017g0012 a0001c0002t0001g0064 a0001c0002t0002g0034 a0001c0002t0006g0028 a0001c0002t0011g0029 a0001c0002t0012g0018 a0006c0003t0008g0035	17	64	0.2656	-15	c.381 others(34): Show c.381+13179_381+13193delAATAAAATAAAATAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124297810	TTTATTAT others(8): Show TTTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0025 a0001c0001t0006g0025	1	64	0.0156	-15	c.381 others(34): Show c.381+55453_381+55467delATTATTATTATTATT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124322161	TAATAAAA others(8): Show TAATAAAATAAAATAA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01261.hp2 others(6): Show HG01069.hp1 HG01069.hp2 HG01261.hp2 HG02698.hp2 HG02723.hp2 HG02886.hp1 HG03130.hp2 NA19043.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001 a0001c0002t0007 a0001c0002t0011 a0002c0004t0001	a0001c0001t0001g0020 a0001c0001t0003g0006 a0001c0001t0004g0052 others(6): Show a0001c0001t0001g0020 a0001c0001t0003g0006 a0001c0001t0004g0052 a0001c0001t0014g0037 a0001c0001t0015g0036 a0001c0002t0001g0003 a0001c0002t0007g0009 a0001c0002t0011g0029 a0002c0004t0001g0001	9	64	0.1406	-15	c.381 others(34): Show c.381+79797_381+79811delAAAATAAAATAAAAT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124565574	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01261.hp1 HG02145.hp1 others(8): Show HG00423.hp2 HG01261.hp1 HG02145.hp1 HG02698.hp1 HG02698.hp2 HG02897.hp1 HG03130.hp2 HG03486.hp1 HG03704.hp1 NA18906.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0033 others(8): Show a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0002g0027 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0004g0052 a0001c0001t0007g0039 a0001c0002t0001g0016 a0001c0002t0001g0062 a0001c0002t0002g0034	11	64	0.1719	-15	c.175 others(34): Show c.1756+2280_1756+2294delTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124702346	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18906.hp2 HG03130.hp1 NA18906.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0003 a0001c0001 a0006c0003	a0001c0001t0004 a0006c0003t0008 a0001c0001t0004 a0006c0003t0008	a0001c0001t0004g0053 a0006c0003t0008g0035 a0001c0001t0004g0053 a0006c0003t0008g0035	2	64	0.0313	-15	c.207 others(36): Show c.2078-44847_2078-44833delTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124707064	GGAAGAGG others(8): Show GGAAGAGGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	64	0.0156	-15	c.207 others(36): Show c.2078-40132_2078-40118delAGAGGAAGAAGAAGA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124707140	GGAAGAAG others(8): Show GGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0014 a0001c0001t0020g0014	1	64	0.0156	-15	c.207 others(36): Show c.2078-40037_2078-40023delGAAGAAGAAGAAGAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTRL_chr9_121069955_121182610	121176375	AATTAGCA others(8): Show AATTAGCAGCAGGGCC	A A	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0101 a0002c0002t0001g0101	1	330	0.0030	-15	c.695 others(32): Show c.6955-770_6955-756delTAGCAGCAGGGCCAT	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	43/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
COA1_chr7_43634257_43734523	43691270	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02155.hp1 HG02965.hp1 others(16): Show HG00423.hp1 HG02155.hp1 HG02965.hp1 HG03098.hp1 HG03834.hp1 NA18947.hp2 NA18948.hp1 NA18955.hp1 NA18964.hp1 NA18971.hp1 NA18975.hp2 NA18985.hp1 NA18989.hp1 NA18998.hp1 NA18999.hp1 NA19065.hp1 NA19074.hp2 NA19081.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0002c0003t0001 a0001c0001t0001 a0001c0001t0006 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0001g0056 others(15): Show a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0148 a0001c0001t0006g0379 a0002c0003t0001g0108	19	384	0.0495	-15	c.-39 others(34): Show c.-39+38144_-39+38158delCTTTCTTTCTTTCTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691407	GGAAGGAA others(8): Show GGAAGGAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG01928.hp2 others(1): Show HG00408.hp2 HG00423.hp2 HG01928.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0200 a0001c0001t0001g0210 others(1): Show a0001c0001t0001g0176 a0001c0001t0001g0200 a0001c0001t0001g0210 a0001c0001t0001g0214	4	384	0.0104	-15	c.-39 others(34): Show c.-39+38007_-39+38021delTTTCTTTCTTCCTTC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA3_chr17_42792625_42803704	42801507	AAAAATAT others(8): Show AAAAATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02647.hp1 HG02647.hp2 others(6): Show HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02886.hp2 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	9	310	0.0290	-15	c.-28 others(26): Show c.-2841_-2827delATATATATATATTTT	COA3	ENSG00000183978.8	transcript	ENST00000328434.8	protein_coding		2804		chr17	TogoVar
COA3_chr17_42792625_42803704	42801509	AAATATAT others(8): Show AAATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG03579.hp2 HG02809.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	310	0.0065	-15	c.-28 others(26): Show c.-2843_-2829delATATATATATATATT	COA3	ENSG00000183978.8	transcript	ENST00000328434.8	protein_coding		2806		chr17	TogoVar
COA4_chr11_73867667_73881846	73880687	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	394	0.0025	-15	c.-39 others(26): Show c.-3962_-3948delTTTTTTTTTTTTTTT	COA4	ENSG00000181924.7	transcript	ENST00000355693.5	protein_coding		3842		chr11	TogoVar
COA7_chr1_52679449_52703347	52690026	CAAAAAAA others(8): Show CAAAAAAAAAAAAAGA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00639.hp2 others(71): Show HG00280.hp1 HG00280.hp2 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01943.hp2 HG02056.hp2 HG02257.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp2 NA19063.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0005 a0001c0001t0007 a0001c0001t0019 others(12): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0019 a0002c0002t0002 a0002c0002t0008 a0002c0002t0025 a0002c0002t0028 a0002c0002t0041 a0002c0002t0049 a0002c0002t0050 a0002c0002t0051 a0002c0002t0052 a0002c0002t0054 a0002c0002t0055 a0002c0004t0008	a0001c0001t0005g0015 a0001c0001t0005g0221 a0001c0001t0005g0223 others(47): Show a0001c0001t0005g0015 a0001c0001t0005g0221 a0001c0001t0005g0223 a0001c0001t0005g0224 a0001c0001t0005g0225 a0001c0001t0005g0226 a0001c0001t0005g0229 a0001c0001t0005g0233 a0001c0001t0007g0121 a0001c0001t0019g0231 a0001c0001t0019g0232 a0002c0002t0002g0004 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0019 a0002c0002t0002g0026 a0002c0002t0002g0029 a0002c0002t0002g0038 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0086 a0002c0002t0002g0166 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0177 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0183 a0002c0002t0008g0062 a0002c0002t0008g0153 a0002c0002t0008g0155 a0002c0002t0008g0157 a0002c0002t0008g0159 a0002c0002t0008g0160 a0002c0002t0025g0064 a0002c0002t0025g0168 a0002c0002t0028g0036 a0002c0002t0041g0176 a0002c0002t0049g0182 a0002c0002t0050g0167 a0002c0002t0051g0169 a0002c0002t0052g0185 a0002c0002t0054g0170 a0002c0002t0055g0179 a0002c0004t0008g0154	74	416	0.1779	-15	c.248 others(32): Show c.248-1873_248-1859delTCTTTTTTTTTTTTT	COA7	ENSG00000162377.6	transcript	ENST00000371538.5	protein_coding	2/2			chr1	TogoVar
COBLL1_chr2_164675188_164846823	164783416	GAAGAAGA others(8): Show GAAGAAGAGAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0020 a0001c0001t0050g0020	1	212	0.0047	-15	c.42- others(32): Show c.42-39556_42-39542delTTCTTTTCTCTTCTT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164822734	ATATTATT others(8): Show ATATTATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02615.hp1 HG02922.hp2 others(1): Show HG01261.hp1 HG02615.hp1 HG02922.hp2 HG02965.hp1	a0001 a0010 a0001 a0010	a0001c0002 a0010c0027 a0001c0002 a0010c0027	a0001c0002t0010 a0001c0002t0046 a0010c0027t0010 a0001c0002t0010 a0001c0002t0046 a0010c0027t0010	a0001c0002t0010g0017 a0001c0002t0010g0018 a0001c0002t0046g0016 others(1): Show a0001c0002t0010g0017 a0001c0002t0010g0018 a0001c0002t0046g0016 a0010c0027t0010g0166	4	212	0.0189	-15	c.41+ others(32): Show c.41+18407_41+18421delATAATAATAATAATA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51018906	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02886.hp2 others(4): Show HG01884.hp2 HG02145.hp1 HG02886.hp2 HG03130.hp1 HG03486.hp1 HG06807.hp2 NA20300.hp2	a0003 a0004 a0006 others(1): Show a0003 a0004 a0006 a0010	a0003c0001 a0004c0010 a0006c0062 others(2): Show a0003c0001 a0004c0010 a0006c0062 a0010c0030 a0010c0034	a0003c0001t0005 a0004c0010t0005 a0006c0062t0004 others(2): Show a0003c0001t0005 a0004c0010t0005 a0006c0062t0004 a0010c0030t0005 a0010c0034t0005	a0003c0001t0005g0043 a0003c0001t0005g0044 a0003c0001t0005g0099 others(4): Show a0003c0001t0005g0043 a0003c0001t0005g0044 a0003c0001t0005g0099 a0004c0010t0005g0164 a0006c0062t0004g0006 a0010c0030t0005g0052 a0010c0034t0005g0182	7	230	0.0304	-15	c.376 others(34): Show c.3769-1353_3769-1339delATATATATATATATA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	12/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51036336	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02257.hp2 others(13): Show HG01884.hp1 HG02145.hp1 HG02257.hp2 HG02451.hp2 HG02622.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03540.hp1 HG06807.hp2 NA18522.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0012 a0016 a0030 a0033	a0001c0004 a0003c0001 a0003c0016 others(5): Show a0001c0004 a0003c0001 a0003c0016 a0004c0025 a0012c0021 a0016c0022 a0030c0059 a0033c0044	a0001c0004t0001 a0003c0001t0005 a0003c0016t0001 others(5): Show a0001c0004t0001 a0003c0001t0005 a0003c0016t0001 a0004c0025t0002 a0012c0021t0001 a0016c0022t0001 a0030c0059t0001 a0033c0044t0010	a0001c0004t0001g0078 a0001c0004t0001g0183 a0001c0004t0001g0219 others(13): Show a0001c0004t0001g0078 a0001c0004t0001g0183 a0001c0004t0001g0219 a0003c0001t0005g0043 a0003c0001t0005g0044 a0003c0001t0005g0099 a0003c0016t0001g0076 a0003c0016t0001g0077 a0003c0016t0001g0079 a0003c0016t0001g0080 a0004c0025t0002g0015 a0012c0021t0001g0127 a0016c0022t0001g0125 a0016c0022t0001g0126 a0030c0059t0001g0039 a0033c0044t0010g0041	16	230	0.0696	-15	c.140 others(34): Show c.1407-5442_1407-5428delTTTTTTTTTTTTTTT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	8/12			chr7	TogoVar
COG3_chr13_45459939_45541701	45486297	CGGGAGAC others(8): Show CGGGAGACGGGAGACG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02647.hp1 others(3): Show HG01069.hp1 HG01071.hp1 HG02647.hp1 HG02922.hp2 HG02976.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0002 a0001c0002t0001 a0002c0003t0002	a0001c0002t0001g0229 a0001c0002t0001g0230 a0002c0003t0002g0007 others(2): Show a0001c0002t0001g0229 a0001c0002t0001g0230 a0002c0003t0002g0007 a0002c0003t0002g0213 a0002c0003t0002g0231	6	342	0.0175	-15	c.844 others(30): Show c.844-195_844-181delGAGACGGGAGACGGG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45492414	AGTTATTT others(8): Show AGTTATTTTCTTAAAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02015.hp1 HG02922.hp1 others(1): Show HG00408.hp1 HG02015.hp1 HG02922.hp1 HG03098.hp2	a0002 a0002	a0002c0005 a0002c0016 a0002c0005 a0002c0016	a0002c0005t0003 a0002c0016t0003 a0002c0005t0003 a0002c0016t0003	a0002c0005t0003g0157 a0002c0005t0003g0158 a0002c0005t0003g0159 others(1): Show a0002c0005t0003g0157 a0002c0005t0003g0158 a0002c0005t0003g0159 a0002c0016t0003g0156	4	342	0.0117	-15	c.118 others(32): Show c.1187+167_1187+181delTATTTTCTTAAATGT	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG4_chr16_70475571_70528554	70506603	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02717.hp1 NA18962.hp2 HG02523.hp1 HG02717.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0002 a0001c0005t0001 a0001c0001t0001 a0001c0002t0002 a0001c0005t0001	a0001c0001t0001g0106 a0001c0002t0002g0140 a0001c0005t0001g0247 a0001c0001t0001g0106 a0001c0002t0002g0140 a0001c0005t0001g0247	3	354	0.0085	-15	c.106 others(34): Show c.1061+1788_1061+1802delGTTTTTTTTTTTTTT	COG4	ENSG00000103051.21	transcript	ENST00000323786.10	protein_coding	8/18			chr16	TogoVar
COG4_chr16_70475571_70528554	70525957	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02818.hp1 HG02647.hp2 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0334 a0001c0003t0001g0086 a0001c0002t0001g0334 a0001c0003t0001g0086	2	354	0.0057	-15	c.-24 others(26): Show c.-2429_-2415delTTTTTTTTTTTTTTT	COG4	ENSG00000103051.21	transcript	ENST00000323786.10	protein_coding		2404		chr16	TogoVar
COG6_chr13_39650662_39757628	39668102	TACGATTC others(8): Show TACGATTCATGTATCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(76): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00423.hp1 HG00639.hp2 HG00733.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp2 HG01099.hp1 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02486.hp2 HG02735.hp2 HG02818.hp2 HG02970.hp2 HG03710.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp1 NA18971.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19056.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19072.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0011 others(2): Show a0001c0001 a0001c0006 a0001c0011 a0001c0012 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0006t0003 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0006t0003 a0001c0011t0003 a0001c0012t0003 a0002c0002t0002	a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0004 others(72): Show a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0207 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0004g0049 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0006t0003g0040 a0001c0006t0003g0041 a0001c0011t0003g0210 a0001c0012t0003g0073 a0002c0002t0002g0350	79	370	0.2135	-15	c.428 others(32): Show c.428+2951_428+2965delGATTCATGTATCCAC	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG7_chr16_23383493_23458189	23449380	TTAAAATA others(8): Show TTAAAATAAAATAAAA	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02809.hp1 NA18906.hp2 HG01981.hp1 HG02809.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0003t0007 a0002c0002t0003 a0001c0001t0002 a0001c0003t0007 a0002c0002t0003	a0001c0001t0002g0251 a0001c0003t0007g0250 a0002c0002t0003g0132 a0001c0001t0002g0251 a0001c0003t0007g0250 a0002c0002t0003g0132	3	272	0.0110	-15	c.169 others(32): Show c.169+3431_170-3420delTTTTATTTTATTTTA	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	1/16			chr16	TogoVar
COG8_chr16_69321428_69344564	69343359	CGACTAAG others(8): Show CGACTAAGCCCCAGAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	360	0.0028	-15	c.-38 others(26): Show c.-3822_-3808delTTCTGGGGCTTAGTC	COG8	ENSG00000213380.16	transcript	ENST00000306875.10	protein_coding		3796		chr16	TogoVar
COL12A1_chr6_75079326_75211053	75194541	CTATAAGA others(8): Show CTATAAGATCAAAGGT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0054 a0002c0054	a0002c0054t0003 a0002c0054t0003	a0002c0054t0003g0193 a0002c0054t0003g0193	1	206	0.0049	-15	c.190 others(30): Show c.190+275_190+289delACCTTTGATCTTATA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding	3/65			chr6	TogoVar
COL13A1_chr10_69796906_69964144	69804809	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02723.hp1 HG03540.hp1 others(3): Show HG01516.hp1 HG02723.hp1 HG03540.hp1 NA18969.hp1 NA19087.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0004t0002 a0001c0007t0001	a0001c0001t0001g0074 a0001c0001t0001g0185 a0001c0002t0001g0291 others(3): Show a0001c0001t0001g0074 a0001c0001t0001g0185 a0001c0002t0001g0291 a0001c0003t0002g0186 a0001c0004t0002g0163 a0001c0007t0001g0290	6	324	0.0185	-15	c.294 others(32): Show c.294+2111_294+2125delAAAAAAAAAAAAAAA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69933135	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02258.hp1 HG02895.hp1 others(2): Show HG01106.hp1 HG02258.hp1 HG02895.hp1 HG02897.hp1 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0015 a0001c0001 a0001c0002 a0003c0015	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0003c0015t0011	a0001c0001t0001g0080 a0001c0001t0001g0138 a0001c0002t0002g0206 others(2): Show a0001c0001t0001g0080 a0001c0001t0001g0138 a0001c0002t0002g0206 a0001c0002t0003g0320 a0003c0015t0011g0114	5	324	0.0154	-15	c.172 others(32): Show c.1728+549_1728+563delAAAAAAAAAAAAAAA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	31/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL14A1_chr8_120120102_120378573	120200714	TTTATATA others(8): Show TTTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA20129.hp1 HG03139.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0086 a0001c0001t0002g0143 a0001c0001t0001g0086 a0001c0001t0002g0143	2	218	0.0092	-15	c.877 others(32): Show c.877+1150_877+1164delTATATATATATATAT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	8/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL14A1_chr8_120120102_120378573	120220792	GTGATGAT others(8): Show GTGATGATAATGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0116 a0003c0004t0001g0116	1	218	0.0046	-15	c.173 others(34): Show c.1738-4290_1738-4276delATAATGGTGATGATG	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	14/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL15A1_chr9_98938907_99075787	98949150	TATTCTTT others(8): Show TATTCTTTCATGTCTG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0074 a0004c0005t0001g0074	1	310	0.0032	-15	c.100 others(32): Show c.100+4910_100+4924delTGTCTGATTCTTTCA	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL17A1_chr10_104026286_104090880	104077699	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0024 a0024	a0024c0039 a0024c0039	a0024c0039t0003 a0024c0039t0003	a0024c0039t0003g0255 a0024c0039t0003g0255	1	336	0.0030	-15	c.98- others(28): Show c.98-188_98-174delCAAAACAAAACAAAA	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	3/55			chr10	TogoVar
COL18A1_chr21_45400165_45518720	45471749	ATTTCCAG others(8): Show ATTTCCAGCTGTGTCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0023	1	292	0.0034	-15	c.652 others(32): Show c.652-2144_652-2130delTTCCAGCTGTGTCCT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45489897	CCCCCACT others(8): Show CCCCCACTTCCACCTG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0019 a0019	a0019c0096 a0019c0096	a0019c0096t0015 a0019c0096t0015	a0019c0096t0015g0045 a0019c0096t0015g0045	1	292	0.0034	-15	c.196 others(32): Show c.1960-371_1960-357delTTCCACCTGCCCCAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	19/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45489941	CCCCCACT others(8): Show CCCCCACTTCCCCCTG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0157 a0001c0037t0001g0157	1	292	0.0034	-15	c.196 others(32): Show c.1960-327_1960-313delTTCCCCCTGCCCCAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	19/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45489980	CTCCCCCA others(8): Show CTCCCCCACTTCCCCG	C C	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0267 a0001c0004t0001g0267	1	292	0.0034	-15	c.196 others(32): Show c.1960-286_1960-272delTTCCCCGTCCCCCAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	19/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45500163	GTAGTGTG others(8): Show GTAGTGTGGGGGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0020 a0020	a0020c0094 a0020c0094	a0020c0094t0011 a0020c0094t0011	a0020c0094t0011g0075 a0020c0094t0011g0075	1	292	0.0034	-15	c.268 others(34): Show c.2683+2512_2683+2526delGGTGTATAGTGTGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69871809	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0134 a0001c0001t0009g0134	1	182	0.0055	-15	c.-33 others(32): Show c.-33+5178_-33+5192delTTTTTTTTTTTTTTT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	1/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	70111690	AAAATTAT others(8): Show AAAATTATTAACTATT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0038 a0002c0004t0008g0038	1	182	0.0055	-15	c.127 others(34): Show c.1278+9469_1278+9483delAAATTATTAACTATT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	16/50			chr6	TogoVar
COL1A2_chr7_94389895_94436227	94435083	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02451.hp1 others(20): Show HG02109.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03540.hp1 HG03579.hp1 NA18522.hp1 NA18906.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0008 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 a0001c0007t0004 a0001c0008t0001 a0002c0004t0001	a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0171 others(12): Show a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0171 a0001c0001t0001g0239 a0001c0002t0001g0210 a0001c0006t0001g0231 a0001c0007t0001g0021 a0001c0007t0001g0174 a0001c0007t0004g0192 a0001c0008t0001g0005 a0001c0008t0001g0061 a0001c0008t0001g0197 a0001c0008t0001g0198 a0001c0008t0001g0230 a0002c0004t0001g0142	23	438	0.0525	-15	c.46 others(26): Show c.4691_*4705delTTTTTTTTTTTTTTT	COL1A2	ENSG00000164692.19	transcript	ENST00000297268.11	protein_coding		3857		chr7	TogoVar
COL20A1_chr20_63288186_63339806	63329852	ATGTGGGG others(8): Show ATGTGGGGTCACAGGG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0124 a0004c0006t0004g0124	1	290	0.0035	-15	c.3+ others(28): Show c.3+207_*3+221delTGTGGGGTCACAGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	35/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL21A1_chr6_56051590_56252580	56087061	CTTTTGTT others(8): Show CTTTTGTTTTGTTTTG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02886.hp1 HG02965.hp2 others(1): Show HG02622.hp2 HG02886.hp1 HG02965.hp2 HG03688.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0001c0001t0003 a0007c0010t0003 a0001c0001t0001 a0001c0001t0003 a0007c0010t0003	a0001c0001t0001g0182 a0001c0001t0003g0085 a0007c0010t0003g0069 others(1): Show a0001c0001t0001g0182 a0001c0001t0003g0085 a0007c0010t0003g0069 a0007c0010t0003g0070	4	264	0.0152	-15	c.181 others(34): Show c.1813-9503_1813-9489delCAAAACAAAACAAAA	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL22A1_chr8_138583235_138919041	138901358	GTTTTTTT others(8): Show GTTTTTTTTTTGTTTT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01081.hp2 HG02055.hp2 HG01070.hp2 HG01081.hp2 HG02055.hp2	a0002 a0004 a0012 a0002 a0004 a0012	a0002c0007 a0004c0032 a0012c0050 a0002c0007 a0004c0032 a0012c0050	a0002c0007t0001 a0004c0032t0001 a0012c0050t0002 a0002c0007t0001 a0004c0032t0001 a0012c0050t0002	a0002c0007t0001g0111 a0004c0032t0001g0115 a0012c0050t0002g0110 a0002c0007t0001g0111 a0004c0032t0001g0115 a0012c0050t0002g0110	3	158	0.0190	-15	c.-73 others(34): Show c.-73+12246_-73+12260delAAAACAAAAAAAAAA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	1/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178322583	ACGAGCTG others(8): Show ACGAGCTGGCTCCTGC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00639.hp1 others(97): Show HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00639.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02083.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18943.hp1 NA18955.hp2 NA18964.hp1 NA18971.hp1 NA18990.hp2 NA18999.hp2 NA19002.hp1 NA19005.hp1 NA19010.hp1 NA19012.hp2 NA19056.hp1 NA19060.hp1 NA19063.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0008 a0011 a0013	a0001c0001 a0001c0004 a0002c0002 others(10): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0002c0009 a0003c0005 a0003c0007 a0004c0006 a0004c0011 a0007c0019 a0008c0018 a0011c0013 a0013c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0002c0002t0001 a0002c0002t0009 a0002c0002t0010 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0006 a0002c0003t0008 a0002c0009t0008 a0003c0005t0002 a0003c0005t0003 a0003c0007t0001 a0004c0006t0003 a0004c0011t0001 a0007c0019t0005 a0008c0018t0003 a0011c0013t0005 a0013c0010t0002	a0001c0001t0001g0002 a0001c0001t0001g0199 a0001c0001t0002g0056 others(97): Show a0001c0001t0001g0002 a0001c0001t0001g0199 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0083 a0001c0001t0002g0153 a0001c0001t0002g0189 a0001c0001t0003g0067 a0001c0001t0003g0073 a0001c0001t0003g0119 a0001c0001t0003g0123 a0001c0001t0003g0159 a0001c0001t0003g0170 a0001c0001t0003g0210 a0001c0001t0003g0214 a0001c0001t0004g0011 a0001c0001t0004g0039 a0001c0001t0004g0041 a0001c0001t0004g0063 a0001c0001t0004g0069 a0001c0001t0004g0084 a0001c0001t0004g0087 a0001c0001t0004g0109 a0001c0001t0004g0111 a0001c0001t0004g0164 a0001c0001t0004g0174 a0001c0001t0004g0185 a0001c0001t0004g0204 a0001c0001t0004g0218 a0001c0001t0005g0009 a0001c0001t0005g0072 a0001c0001t0005g0078 a0001c0001t0005g0133 a0001c0001t0005g0207 a0001c0001t0005g0216 a0001c0001t0005g0222 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0230 a0001c0001t0007g0008 a0001c0001t0007g0118 a0001c0001t0014g0224 a0001c0004t0001g0070 a0001c0004t0001g0094 a0001c0004t0001g0178 a0001c0004t0001g0179 a0001c0004t0002g0120 a0001c0004t0004g0023 a0001c0004t0005g0105 a0002c0002t0001g0032 a0002c0002t0001g0052 a0002c0002t0001g0064 a0002c0002t0001g0082 a0002c0002t0001g0101 a0002c0002t0001g0141 a0002c0002t0001g0176 a0002c0002t0001g0181 a0002c0002t0009g0225 a0002c0002t0010g0228 a0002c0003t0001g0129 a0002c0003t0001g0134 a0002c0003t0001g0152 a0002c0003t0002g0034 a0002c0003t0002g0089 a0002c0003t0002g0097 a0002c0003t0002g0112 a0002c0003t0002g0138 a0002c0003t0002g0206 a0002c0003t0003g0088 a0002c0003t0003g0126 a0002c0003t0003g0157 a0002c0003t0003g0169 a0002c0003t0003g0173 a0002c0003t0005g0066 a0002c0003t0005g0146 a0002c0003t0006g0229 a0002c0003t0008g0231 a0002c0009t0008g0235 a0003c0005t0002g0005 a0003c0005t0002g0061 a0003c0005t0003g0010 a0003c0005t0003g0125 a0003c0005t0003g0127 a0003c0005t0003g0145 a0003c0005t0003g0156 a0003c0005t0003g0217 a0003c0005t0003g0220 a0003c0007t0001g0102 a0003c0007t0001g0103 a0004c0006t0003g0062 a0004c0006t0003g0128 a0004c0006t0003g0130 a0004c0006t0003g0139 a0004c0006t0003g0143 a0004c0006t0003g0172 a0004c0011t0001g0093 a0007c0019t0005g0160 a0008c0018t0003g0215 a0011c0013t0005g0132 a0013c0010t0002g0117	100	236	0.4237	-15	c.362 others(34): Show c.362-15679_362-15665delGCAGGAGCCAGCTCG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	85824903	TTTATTAT others(8): Show TTTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0145 a0002c0003t0002g0145	1	238	0.0042	-15	c.368 others(34): Show c.3682-1180_3682-1166delTAATAATAATAATAA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	43/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85945000	GTGTTTTT others(8): Show GTGTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0031 a0003c0031	a0003c0031t0004 a0003c0031t0004	a0003c0031t0004g0065 a0003c0031t0004g0065	1	238	0.0042	-15	c.256 others(36): Show c.2562+16234_2562+16248delAAAAAAAAAAAAACA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	24/59			chr1	TogoVar
COL25A1_chr4_108803725_109307658	108942483	GCTCAGGC others(8): Show GCTCAGGCTGGAGTGC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0030 a0001c0002t0010g0030	1	130	0.0077	-15	c.493 others(32): Show c.493-1061_493-1047delGCACTCCAGCCTGAG	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	8/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	108990232	AAAAAAAA others(8): Show AAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02895.hp2 HG02970.hp1 others(3): Show HG02717.hp2 HG02895.hp2 HG02970.hp1 HG03225.hp2 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0025	a0001c0001t0001g0099 a0001c0001t0005g0077 a0001c0002t0001g0098 others(3): Show a0001c0001t0001g0099 a0001c0001t0005g0077 a0001c0002t0001g0098 a0001c0002t0001g0110 a0001c0002t0001g0125 a0001c0002t0025g0050	6	130	0.0462	-15	c.439 others(34): Show c.439-15688_439-15674delATATATATTTTTTTT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	6/37			chr4	TogoVar

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