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	124777775	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02293.hp1 HG02698.hp1 others(5): Show HG01069.hp1 HG02293.hp1 HG02698.hp1 HG02717.hp1 HG03098.hp2 NA18906.hp1 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0010 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0010 a0001c0002t0011	a0001c0001t0002g0027 a0001c0001t0002g0050 a0001c0002t0001g0003 others(5): Show a0001c0001t0002g0027 a0001c0001t0002g0050 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0062 a0001c0002t0010g0032 a0001c0002t0011g0029	8	64	0.1250	-14	c.275 others(33): Show c.2752+4794_2752+4807delGTGTGTGTGTGTGT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTRL_chr9_121069955_121182610	121070384	GATATATA others(7): Show GATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01070.hp1 others(29): Show HG00621.hp2 HG00735.hp1 HG01070.hp1 HG01123.hp1 HG01361.hp2 HG02071.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02293.hp2 HG02698.hp1 HG03486.hp1 HG03490.hp2 HG03654.hp1 NA18522.hp1 NA18944.hp2 NA18952.hp2 NA18956.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp1 NA18978.hp1 NA18989.hp1 NA18991.hp1 NA18993.hp2 NA18997.hp1 NA19010.hp1 NA19063.hp2 NA19074.hp1 NA19077.hp1 NA19090.hp1	a0002 a0004 a0006 others(1): Show a0002 a0004 a0006 a0014	a0002c0002 a0002c0006 a0004c0026 others(2): Show a0002c0002 a0002c0006 a0004c0026 a0006c0010 a0014c0022	a0002c0002t0001 a0002c0002t0004 a0002c0006t0001 others(3): Show a0002c0002t0001 a0002c0002t0004 a0002c0006t0001 a0004c0026t0001 a0006c0010t0001 a0014c0022t0001	a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0007 others(25): Show a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0035 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0047 a0002c0002t0001g0050 a0002c0002t0001g0061 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0078 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0100 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0121 a0002c0002t0004g0001 a0002c0006t0001g0025 a0004c0026t0001g0135 a0006c0010t0001g0052 a0006c0010t0001g0090 a0006c0010t0001g0091 a0014c0022t0001g0039	32	330	0.0970	-14	c.-48 others(25): Show c.-4887_-4874delATATATATATATAT	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding		4570		chr9	TogoVar
CNTRL_chr9_121069955_121182610	121181744	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00609.hp1 others(53): Show HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG01109.hp1 HG01261.hp2 HG02015.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03486.hp2 HG06807.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18949.hp2 NA18950.hp2 NA18954.hp1 NA18956.hp1 NA18974.hp2 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18986.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA19004.hp1 NA19007.hp1 NA19012.hp1 NA19030.hp2 NA19060.hp2 NA19070.hp2 NA19072.hp2 NA19077.hp2 NA19083.hp2 NA20129.hp2 NA21309.hp1	a0001 a0021 a0022 others(1): Show a0001 a0021 a0022 a0023	a0001c0001 a0021c0030 a0022c0028 others(1): Show a0001c0001 a0021c0030 a0022c0028 a0023c0029	a0001c0001t0001 a0001c0001t0003 a0021c0030t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0021c0030t0001 a0022c0028t0001 a0023c0029t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0194 others(51): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0021c0030t0001g0235 a0022c0028t0001g0212 a0023c0029t0001g0224	56	330	0.1697	-14	c.45 others(25): Show c.4559_*4572delTTTTTTTTTTTTTT	CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding		4135		chr9	TogoVar
CNTROB_chr17_7927206_7954920	7942596	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA20752.hp2 HG01952.hp1 NA20752.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0007 a0007c0008t0007	a0007c0008t0007g0188 a0007c0008t0007g0189 a0007c0008t0007g0188 a0007c0008t0007g0189	2	402	0.0050	-14	c.131 others(31): Show c.1312-784_1312-771delAAAAAAAAAAAAAA	CNTROB	ENSG00000170037.14	transcript	ENST00000563694.6	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
COA1_chr7_43634257_43734523	43635857	AGTTAAAA others(7): Show AGTTAAAAGATAAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00642.hp1 others(21): Show HG00140.hp2 HG00323.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG02148.hp1 HG02258.hp2 HG02293.hp1 HG03654.hp1 HG03834.hp2 HG03942.hp1 NA19084.hp2 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0358 others(19): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0002t0001g0366 a0001c0002t0001g0367	24	384	0.0625	-14	c.37 others(25): Show c.3711_*3724delACTTATCTTTTAAC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding		3399		chr7	TogoVar
COA1_chr7_43634257_43734523	43691309	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0296	1	384	0.0026	-14	c.-39 others(33): Show c.-39+38106_-39+38119delTTCTTTCTTTCTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691412	GAAGAAAG others(7): Show GAAGAAAGAAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03195.hp1 HG03490.hp1 HG01884.hp2 HG03195.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0129 a0001c0001t0001g0146 a0001c0001t0001g0147	3	384	0.0078	-14	c.-39 others(33): Show c.-39+38003_-39+38016delTCTTTTTCTTTCTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691463	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020	3	384	0.0078	-14	c.-39 others(33): Show c.-39+37952_-39+37965delCTTTCTTTCTTTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43709434	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02559.hp2 others(4): Show HG01891.hp1 HG02145.hp2 HG02559.hp2 HG02572.hp1 HG02922.hp1 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018	7	384	0.0182	-14	c.-39 others(33): Show c.-39+19981_-39+19994delCACACACACACACA	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA3_chr17_42792625_42803704	42801510	AATATATA others(7): Show AATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	310	0.0032	-14	c.-28 others(25): Show c.-2843_-2830delATATATATATATAT	COA3	ENSG00000183978.8	transcript	ENST00000328434.8	protein_coding		2807		chr17	TogoVar
COA4_chr11_73867667_73881846	73880687	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG01081.hp1 others(23): Show HG00735.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01167.hp1 HG01261.hp1 HG01515.hp1 HG01516.hp1 HG02257.hp1 HG02280.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02818.hp2 HG03486.hp2 HG04204.hp2 HG04228.hp2 NA18948.hp1 NA18963.hp1 NA18997.hp1 NA19007.hp2 NA19043.hp2 NA19057.hp2 NA19068.hp1 NA19070.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0050 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0050 a0001c0001t0001g0052	26	394	0.0660	-14	c.-39 others(25): Show c.-3961_-3948delTTTTTTTTTTTTTT	COA4	ENSG00000181924.7	transcript	ENST00000355693.5	protein_coding		3842		chr11	TogoVar
COA7_chr1_52679449_52703347	52690026	CAAAAAAA others(7): Show CAAAAAAAAAAAAAG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp1 HG02647.hp2 others(5): Show HG02451.hp2 HG02559.hp1 HG02647.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0018 a0001c0001t0009 a0001c0001t0018	a0001c0001t0009g0010 a0001c0001t0009g0075 a0001c0001t0009g0076 others(2): Show a0001c0001t0009g0010 a0001c0001t0009g0075 a0001c0001t0009g0076 a0001c0001t0018g0218 a0001c0001t0018g0219	8	416	0.0192	-14	c.248 others(31): Show c.248-1872_248-1859delCTTTTTTTTTTTTT	COA7	ENSG00000162377.6	transcript	ENST00000371538.5	protein_coding	2/2			chr1	TogoVar
COA8_chr14_103557960_103595896	103564571	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03453.hp2 HG03130.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0181 a0001c0001t0001g0182	2	382	0.0052	-14	c.123 others(31): Show c.123+1460_123+1473delTTTTTTTTTTTTTT	COA8	ENSG00000256053.9	transcript	ENST00000409074.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
COA8_chr14_103557960_103595896	103587500	CTTTTTTT others(7): Show CTTTTTTTCTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0144 a0002c0002t0001g0144	1	382	0.0026	-14	c.476 others(29): Show c.476+144_476+157delCTTTTTTTTTTTTT	COA8	ENSG00000256053.9	transcript	ENST00000409074.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
COBLL1_chr2_164675188_164846823	164725121	TATATATA others(7): Show TATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG01109.hp2 others(24): Show HG00733.hp1 HG00735.hp1 HG01109.hp2 HG01175.hp2 HG01261.hp2 HG01891.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02615.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03471.hp2 HG06807.hp2 NA18522.hp2 NA18955.hp2 NA18966.hp2 NA18995.hp2 NA19088.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0014	a0001c0002 a0001c0033 a0002c0030 others(2): Show a0001c0002 a0001c0033 a0002c0030 a0004c0032 a0014c0031	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(11): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0011 a0001c0002t0055 a0001c0002t0057 a0001c0002t0058 a0001c0002t0060 a0001c0033t0008 a0002c0030t0022 a0004c0032t0001 a0014c0031t0022	a0001c0002t0001g0044 a0001c0002t0001g0170 a0001c0002t0001g0171 others(24): Show a0001c0002t0001g0044 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0002g0165 a0001c0002t0002g0174 a0001c0002t0004g0098 a0001c0002t0004g0186 a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0004g0191 a0001c0002t0005g0133 a0001c0002t0005g0134 a0001c0002t0005g0135 a0001c0002t0005g0136 a0001c0002t0008g0175 a0001c0002t0008g0176 a0001c0002t0008g0177 a0001c0002t0011g0187 a0001c0002t0011g0201 a0001c0002t0055g0144 a0001c0002t0057g0183 a0001c0002t0058g0164 a0001c0002t0060g0162 a0001c0033t0008g0180 a0002c0030t0022g0172 a0004c0032t0001g0163 a0014c0031t0022g0181	27	212	0.1274	-14	c.662 others(31): Show c.662-2613_662-2600delTTATATATATATAT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	5/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164789020	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01243.hp1 others(24): Show HG00099.hp1 HG00735.hp2 HG01243.hp1 HG01496.hp1 HG01884.hp2 HG01952.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02698.hp1 HG02922.hp1 HG03041.hp1 HG03130.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03704.hp1 HG03831.hp1 HG04204.hp2 HG04228.hp1 NA18946.hp2 NA18963.hp2 NA18970.hp2 NA19079.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0019	a0001c0001 a0001c0002 a0001c0010 others(7): Show a0001c0001 a0001c0002 a0001c0010 a0001c0016 a0002c0003 a0003c0004 a0003c0007 a0005c0006 a0005c0029 a0019c0014	a0001c0001t0001 a0001c0001t0007 a0001c0001t0035 others(13): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0035 a0001c0001t0056 a0001c0002t0001 a0001c0002t0021 a0001c0002t0049 a0001c0010t0047 a0001c0016t0030 a0002c0003t0003 a0003c0004t0014 a0003c0007t0006 a0003c0007t0061 a0005c0006t0001 a0005c0029t0016 a0019c0014t0059	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(23): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0071 a0001c0001t0007g0042 a0001c0001t0035g0029 a0001c0001t0056g0032 a0001c0002t0001g0051 a0001c0002t0001g0202 a0001c0002t0021g0004 a0001c0002t0021g0006 a0001c0002t0049g0005 a0001c0010t0047g0040 a0001c0016t0030g0041 a0002c0003t0003g0025 a0003c0004t0014g0072 a0003c0007t0006g0050 a0003c0007t0061g0049 a0005c0006t0001g0002 a0005c0006t0001g0204 a0005c0029t0016g0203 a0019c0014t0059g0114	27	212	0.1274	-14	c.42- others(31): Show c.42-45159_42-45146delGTGTGTGTGTGTGT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805287	GTCTCTCT others(7): Show GTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	212	0.0047	-14	c.41+ others(31): Show c.41+35855_41+35868delGAGAGAGAGAGAGA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805325	CTCTCTCT others(7): Show CTCTCTCTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	212	0.0047	-14	c.41+ others(31): Show c.41+35817_41+35830delTAGAGAGAGAGAGA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164822726	ATTATATT others(7): Show ATTATATTATATTAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp1 HG01175.hp2 others(12): Show HG01106.hp2 HG01109.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp2 HG01516.hp1 HG01952.hp1 HG02083.hp2 HG02293.hp1 HG02896.hp2 HG02897.hp2 HG03490.hp2 HG03579.hp2 NA18939.hp2 NA18966.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0018	a0001c0001 a0001c0002 a0001c0033 others(3): Show a0001c0001 a0001c0002 a0001c0033 a0003c0004 a0005c0020 a0018c0018	a0001c0001t0001 a0001c0001t0027 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0027 a0001c0002t0001 a0001c0033t0008 a0003c0004t0006 a0003c0004t0014 a0005c0020t0031 a0018c0018t0001	a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 others(12): Show a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0027g0188 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0033t0008g0180 a0003c0004t0006g0062 a0003c0004t0006g0064 a0003c0004t0006g0065 a0003c0004t0006g0067 a0003c0004t0014g0059 a0005c0020t0031g0060 a0018c0018t0001g0054	15	212	0.0708	-14	c.41+ others(31): Show c.41+18416_41+18429delATAATATAATATAA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51018905	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02559.hp1 HG02622.hp1 others(3): Show HG02074.hp1 HG02559.hp1 HG02622.hp1 HG02896.hp2 HG02897.hp1 HG03486.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0006	a0002c0019 a0003c0016 a0004c0046 others(1): Show a0002c0019 a0003c0016 a0004c0046 a0006c0008	a0002c0019t0002 a0003c0016t0001 a0004c0046t0001 others(1): Show a0002c0019t0002 a0003c0016t0001 a0004c0046t0001 a0006c0008t0004	a0002c0019t0002g0120 a0003c0016t0001g0076 a0003c0016t0001g0077 others(3): Show a0002c0019t0002g0120 a0003c0016t0001g0076 a0003c0016t0001g0077 a0003c0016t0001g0079 a0004c0046t0001g0048 a0006c0008t0004g0104	6	230	0.0261	-14	c.376 others(33): Show c.3769-1351_3769-1338delATATATATATATAT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	12/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51294317	TAAATAAA others(7): Show TAAATAAATAAATAA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG02723.hp2 others(6): Show HG02451.hp1 HG02559.hp2 HG02723.hp2 HG02809.hp1 HG02922.hp2 HG03139.hp1 HG03471.hp2 NA18522.hp2 NA19043.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0024	a0001c0004 a0001c0015 a0002c0003 others(3): Show a0001c0004 a0001c0015 a0002c0003 a0006c0029 a0007c0020 a0024c0066	a0001c0004t0006 a0001c0015t0001 a0002c0003t0001 others(3): Show a0001c0004t0006 a0001c0015t0001 a0002c0003t0001 a0006c0029t0003 a0007c0020t0001 a0024c0066t0003	a0001c0004t0006g0003 a0001c0015t0001g0169 a0002c0003t0001g0001 others(6): Show a0001c0004t0006g0003 a0001c0015t0001g0169 a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0004 a0006c0029t0003g0053 a0006c0029t0003g0170 a0007c0020t0001g0168 a0024c0066t0003g0051	9	230	0.0391	-14	c.41+ others(31): Show c.41+22262_41+22275delTTATTTATTTATTT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	1/12			chr7	TogoVar
COG1_chr17_73188055_73213507	73192838	GCGCCCGC others(7): Show GCGCCCGCCCCCGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0117 a0002c0001t0001g0117	1	428	0.0023	-14	c.-23 others(23): Show c.-231_-218delCGCCCGCCCCCGCC	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		216		chr17	TogoVar
COG1_chr17_73188055_73213507	73192842	CCGCCCCC others(7): Show CCGCCCCCGCCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01884.hp1 others(12): Show HG01167.hp1 HG01169.hp1 HG01884.hp1 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG03688.hp2 NA18906.hp2 NA18945.hp1 NA18988.hp1 NA18998.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0004 a0002c0001t0001g0006 a0002c0001t0001g0013 others(7): Show a0002c0001t0001g0004 a0002c0001t0001g0006 a0002c0001t0001g0013 a0002c0001t0001g0028 a0002c0001t0001g0029 a0002c0001t0001g0051 a0002c0001t0001g0052 a0002c0001t0001g0058 a0002c0001t0001g0062 a0002c0001t0001g0063	15	428	0.0351	-14	c.-22 others(23): Show c.-227_-214delCGCCCCCGCCCCCT	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		212		chr17	TogoVar
COG1_chr17_73188055_73213507	73192846	CCCCGCCC others(7): Show CCCCGCCCCCTCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0015 a0002c0001t0001g0015	1	428	0.0023	-14	c.-22 others(23): Show c.-223_-210delCCCGCCCCCTCGCG	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		208		chr17	TogoVar
COG3_chr13_45459939_45541701	45484371	GAGGGATG others(7): Show GAGGGATGAAGTACT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp2 others(107): Show HG00099.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp1 HG02165.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02622.hp2 HG02698.hp1 HG02735.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18612.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18949.hp2 NA18951.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 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19091.hp2 NA20129.hp2 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0002c0012 a0005c0019	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0008t0001 a0001c0010t0001 a0002c0012t0001 a0005c0019t0001	a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0041 others(106): Show a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0239 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0006g0064 a0001c0001t0008g0051 a0001c0002t0001g0205 a0001c0008t0001g0042 a0001c0008t0001g0121 a0001c0010t0001g0128 a0002c0012t0001g0103 a0005c0019t0001g0070	110	342	0.3216	-14	c.843 others(31): Show c.843+1017_843+1030delAGGGATGAAGTACT	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22			chr13	TogoVar
COG3_chr13_45459939_45541701	45486289	TCGGGAGA others(7): Show TCGGGAGACGGGAGA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp2 HG01167.hp2 others(25): Show HG00639.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01261.hp2 HG01943.hp2 HG01993.hp1 HG02056.hp1 HG02071.hp1 HG02486.hp2 HG02965.hp2 HG03239.hp2 HG03579.hp1 HG04184.hp1 HG04204.hp1 NA18942.hp1 NA18944.hp2 NA18969.hp1 NA18973.hp2 NA18977.hp1 NA18985.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19012.hp1 NA19030.hp2 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0003 a0001c0001t0001 a0002c0005t0003	a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0054 others(24): Show a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0239 a0002c0005t0003g0004 a0002c0005t0003g0155	28	342	0.0819	-14	c.844 others(29): Show c.844-163_844-150delCGGGAGACGGGAGA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45500094	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00733.hp1 HG00741.hp2 others(14): Show HG00408.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp2 HG01099.hp1 HG01934.hp1 HG01981.hp1 HG02523.hp2 HG03239.hp1 HG03239.hp2 NA18951.hp2 NA18973.hp1 NA18983.hp1 NA18997.hp1 NA19002.hp1 NA19067.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 a0001c0001t0001 a0001c0002t0001 a0001c0008t0001	a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0054 others(14): Show a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0101 a0001c0001t0001g0109 a0001c0001t0001g0122 a0001c0002t0001g0248 a0001c0002t0001g0296 a0001c0002t0001g0308 a0001c0008t0001g0042	17	342	0.0497	-14	c.148 others(33): Show c.1489-3141_1489-3128delTATATATATATATA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45526076	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	342	0.0029	-14	c.223 others(33): Show c.2230+1042_2230+1055delTTTTTTTTTTTTTT	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39654359	TGGCATGT others(7): Show TGGCATGTTATCATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0216 a0002c0002t0004g0216	1	370	0.0027	-14	c.-13 others(25): Show c.-1367_-1354delGGCATGTTATCATC	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding		1302		chr13	TogoVar
COL11A1_chr1_102871473_103113522	102878475	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00621.hp1 others(37): Show HG00323.hp2 HG00408.hp2 HG00621.hp1 HG00735.hp2 HG01517.hp2 HG01891.hp1 HG01978.hp1 HG02027.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03239.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp2 NA18522.hp2 NA18942.hp2 NA18952.hp1 NA18955.hp2 NA18966.hp2 NA18977.hp1 NA18985.hp1 NA18998.hp2 NA19030.hp1 NA19043.hp2 NA19075.hp2 NA19240.hp1 NA20129.hp2 NA20805.hp2	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0009 a0010 a0015 a0016	a0001c0004 a0001c0005 a0001c0008 others(7): Show a0001c0004 a0001c0005 a0001c0008 a0001c0016 a0002c0033 a0007c0015 a0009c0029 a0010c0028 a0015c0025 a0016c0027	a0001c0004t0004 a0001c0004t0005 a0001c0005t0004 others(10): Show a0001c0004t0004 a0001c0004t0005 a0001c0005t0004 a0001c0005t0005 a0001c0005t0012 a0001c0008t0006 a0001c0016t0004 a0002c0033t0013 a0007c0015t0005 a0009c0029t0004 a0010c0028t0006 a0015c0025t0005 a0016c0027t0005	a0001c0004t0004g0014 a0001c0004t0004g0016 a0001c0004t0004g0018 others(37): Show a0001c0004t0004g0014 a0001c0004t0004g0016 a0001c0004t0004g0018 a0001c0004t0004g0031 a0001c0004t0004g0033 a0001c0004t0004g0040 a0001c0004t0004g0042 a0001c0004t0004g0084 a0001c0004t0004g0085 a0001c0004t0004g0088 a0001c0004t0004g0170 a0001c0004t0004g0171 a0001c0004t0004g0173 a0001c0004t0004g0175 a0001c0004t0004g0176 a0001c0004t0004g0179 a0001c0004t0005g0041 a0001c0005t0004g0015 a0001c0005t0005g0061 a0001c0005t0005g0070 a0001c0005t0005g0071 a0001c0005t0005g0072 a0001c0005t0005g0074 a0001c0005t0005g0078 a0001c0005t0005g0080 a0001c0005t0012g0077 a0001c0008t0006g0002 a0001c0008t0006g0003 a0001c0008t0006g0004 a0001c0008t0006g0005 a0001c0008t0006g0006 a0001c0016t0004g0058 a0002c0033t0013g0111 a0007c0015t0005g0112 a0007c0015t0005g0113 a0007c0015t0005g0114 a0009c0029t0004g0043 a0010c0028t0006g0001 a0015c0025t0005g0073 a0016c0027t0005g0076	40	184	0.2174	-14	c.527 others(31): Show c.5275-324_5275-311delATATATATATATAT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	66/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	102945247	ACTCTCTC others(7): Show ACTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG00735.hp2 others(29): Show HG00408.hp2 HG00621.hp1 HG00735.hp2 HG01071.hp1 HG01109.hp2 HG01243.hp1 HG01358.hp1 HG01433.hp2 HG01943.hp1 HG01952.hp1 HG02004.hp1 HG02027.hp1 HG02559.hp2 HG02647.hp1 HG03130.hp1 HG03486.hp2 HG03579.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04228.hp2 NA18942.hp2 NA18952.hp1 NA18955.hp2 NA18966.hp2 NA18977.hp1 NA18985.hp1 NA18998.hp2 NA19075.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0015 a0016 a0017	a0001c0004 a0001c0005 a0001c0016 others(9): Show a0001c0004 a0001c0005 a0001c0016 a0002c0001 a0002c0024 a0002c0033 a0003c0023 a0004c0014 a0007c0015 a0015c0025 a0016c0027 a0017c0038	a0001c0004t0004 a0001c0005t0004 a0001c0005t0005 others(12): Show a0001c0004t0004 a0001c0005t0004 a0001c0005t0005 a0001c0005t0012 a0001c0016t0004 a0002c0001t0001 a0002c0001t0002 a0002c0024t0002 a0002c0033t0013 a0003c0023t0002 a0004c0014t0001 a0007c0015t0005 a0015c0025t0005 a0016c0027t0005 a0017c0038t0002	a0001c0004t0004g0018 a0001c0005t0004g0015 a0001c0005t0005g0061 others(29): Show a0001c0004t0004g0018 a0001c0005t0004g0015 a0001c0005t0005g0061 a0001c0005t0005g0070 a0001c0005t0005g0071 a0001c0005t0005g0072 a0001c0005t0005g0074 a0001c0005t0005g0078 a0001c0005t0005g0080 a0001c0005t0012g0077 a0001c0016t0004g0058 a0002c0001t0001g0100 a0002c0001t0001g0110 a0002c0001t0001g0128 a0002c0001t0001g0181 a0002c0001t0002g0097 a0002c0001t0002g0098 a0002c0001t0002g0099 a0002c0001t0002g0101 a0002c0001t0002g0109 a0002c0001t0002g0183 a0002c0001t0002g0184 a0002c0024t0002g0075 a0002c0033t0013g0111 a0003c0023t0002g0079 a0004c0014t0001g0013 a0007c0015t0005g0112 a0007c0015t0005g0113 a0007c0015t0005g0114 a0015c0025t0005g0073 a0016c0027t0005g0076 a0017c0038t0002g0108	32	184	0.1739	-14	c.327 others(33): Show c.3276+1588_3276+1601delAGAGAGAGAGAGAG	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	42/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	103027396	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp2 HG01099.hp1 others(10): Show HG00323.hp1 HG00738.hp2 HG01099.hp1 HG01243.hp2 HG02300.hp2 HG02683.hp1 HG02683.hp2 HG02895.hp1 HG03041.hp1 HG03453.hp1 NA18522.hp1 NA18952.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0006 a0002c0001 others(4): Show a0001c0002 a0001c0006 a0002c0001 a0002c0034 a0003c0011 a0003c0032 a0004c0014	a0001c0002t0003 a0001c0006t0003 a0002c0001t0001 others(4): Show a0001c0002t0003 a0001c0006t0003 a0002c0001t0001 a0002c0034t0001 a0003c0011t0001 a0003c0032t0002 a0004c0014t0003	a0001c0002t0003g0068 a0001c0006t0003g0039 a0002c0001t0001g0144 others(10): Show a0001c0002t0003g0068 a0001c0006t0003g0039 a0002c0001t0001g0144 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0152 a0002c0001t0001g0164 a0002c0034t0001g0182 a0003c0011t0001g0044 a0003c0011t0001g0060 a0003c0011t0001g0161 a0003c0032t0002g0160 a0004c0014t0003g0059	13	184	0.0707	-14	c.781 others(31): Show c.781-1078_781-1065delATATATATATATAT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	5/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	103036322	GTATATAT others(7): Show GTATATATATATATA	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	-14	c.652 others(31): Show c.652-5092_652-5079delTATATATATATATA	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	4/66			chr1	TogoVar
COL12A1_chr6_75079326_75211053	75208168	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0030 a0030	a0030c0050 a0030c0050	a0030c0050t0010 a0030c0050t0010	a0030c0050t0010g0195 a0030c0050t0010g0195	1	206	0.0049	-14	c.-24 others(25): Show c.-2441_-2428delCACACACACACACA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2116		chr6	TogoVar
COL13A1_chr10_69796906_69964144	69804809	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19074.hp1 NA19030.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0003t0001 a0001c0002t0004 a0001c0003t0001	a0001c0002t0004g0297 a0001c0003t0001g0143 a0001c0002t0004g0297 a0001c0003t0001g0143	2	324	0.0062	-14	c.294 others(31): Show c.294+2112_294+2125delAAAAAAAAAAAAAA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69877697	TCTCACAC others(7): Show TCTCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0012 a0002c0031t0012	a0002c0031t0012g0153 a0002c0031t0012g0153	1	324	0.0031	-14	c.436 others(29): Show c.436-340_436-327delTCACACACACACAC	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	5/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69877699	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03942.hp2 NA20805.hp2 HG00280.hp1 HG03942.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0074 a0001c0001t0001g0195 a0001c0002t0001g0272 a0001c0001t0001g0074 a0001c0001t0001g0195 a0001c0002t0001g0272	3	324	0.0093	-14	c.436 others(29): Show c.436-306_436-293delACACACACACACAC	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	5/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69933135	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp2 HG02027.hp1 others(13): Show HG00544.hp2 HG00673.hp2 HG02027.hp1 HG02071.hp1 HG02257.hp2 HG02486.hp1 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03471.hp1 HG04184.hp1 NA18949.hp1 NA18954.hp1 NA18973.hp2 NA18986.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0019 a0001c0001 a0001c0002 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0019t0001	a0001c0001t0001g0094 a0001c0001t0001g0106 a0001c0001t0001g0111 others(13): Show a0001c0001t0001g0094 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0002g0190 a0001c0002t0001g0184 a0001c0002t0001g0207 a0001c0002t0003g0233 a0001c0002t0003g0238 a0001c0002t0003g0247 a0001c0002t0004g0295 a0001c0002t0004g0296 a0001c0002t0004g0305 a0001c0002t0004g0306 a0001c0019t0001g0032	16	324	0.0494	-14	c.172 others(31): Show c.1728+550_1728+563delAAAAAAAAAAAAAA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	31/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69936169	GAAGGAAG others(7): Show GAAGGAAGGAAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG04199.hp1 HG01069.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0204 a0001c0001t0001g0187 a0001c0001t0001g0204	2	324	0.0062	-14	c.177 others(31): Show c.1771-576_1771-563delAGGAAAGGAAGGAA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	32/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL14A1_chr8_120120102_120378573	120128228	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp1 HG02572.hp1 HG02630.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0009 a0003c0004 a0004c0009	a0003c0004t0002 a0004c0009t0007 a0003c0004t0002 a0004c0009t0007	a0003c0004t0002g0160 a0004c0009t0007g0161 a0003c0004t0002g0160 a0004c0009t0007g0161	2	218	0.0092	-14	c.-38 others(31): Show c.-38+2909_-38+2922delGTGTGTGTGTGTGT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL14A1_chr8_120120102_120378573	120200715	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01169.hp2 HG01884.hp2 others(18): Show HG01109.hp2 HG01169.hp2 HG01884.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02293.hp1 HG02630.hp2 HG02896.hp2 HG02976.hp1 HG03098.hp2 HG03195.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp1 NA18906.hp2 NA18941.hp2 NA19043.hp2 NA19062.hp2 NA19065.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0010	a0001c0001 a0001c0005 a0002c0002 others(5): Show a0001c0001 a0001c0005 a0002c0002 a0002c0016 a0002c0033 a0004c0008 a0005c0011 a0010c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0005t0005 a0002c0002t0001 a0002c0002t0002 a0002c0016t0003 a0002c0033t0001 a0004c0008t0002 a0005c0011t0004 a0010c0022t0001	a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0154 others(18): Show a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0204 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0082 a0001c0001t0002g0100 a0001c0001t0002g0111 a0001c0001t0002g0129 a0001c0001t0005g0022 a0001c0001t0010g0005 a0001c0005t0005g0141 a0002c0002t0001g0164 a0002c0002t0002g0127 a0002c0016t0003g0152 a0002c0033t0001g0211 a0004c0008t0002g0077 a0005c0011t0004g0075 a0010c0022t0001g0135	21	218	0.0963	-14	c.877 others(31): Show c.877+1187_877+1200delATATATATATATAT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	8/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL14A1_chr8_120120102_120378573	120202989	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00544.hp2 others(51): Show HG00140.hp1 HG00140.hp2 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG01071.hp1 HG01109.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp2 HG01943.hp2 HG01981.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02129.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02523.hp2 HG02615.hp2 HG02698.hp1 HG02723.hp1 HG03139.hp2 HG03492.hp1 HG03704.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18941.hp1 NA18944.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18959.hp1 NA18968.hp2 NA18979.hp2 NA18982.hp2 NA19004.hp1 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp2 NA19062.hp1 NA19065.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0009	a0001c0001 a0001c0003 a0001c0013 others(9): Show a0001c0001 a0001c0003 a0001c0013 a0001c0015 a0001c0021 a0002c0006 a0002c0012 a0002c0016 a0002c0017 a0004c0008 a0008c0028 a0009c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0013 a0001c0003t0015 a0001c0003t0016 a0001c0013t0004 a0001c0015t0003 a0001c0021t0002 a0002c0006t0002 a0002c0006t0006 a0002c0012t0002 a0002c0016t0002 a0002c0017t0002 a0004c0008t0001 a0004c0008t0008 a0008c0028t0002 a0009c0029t0001	a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0001g0113 others(51): Show a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0002g0186 a0001c0001t0003g0043 a0001c0001t0003g0093 a0001c0003t0001g0035 a0001c0003t0001g0050 a0001c0003t0001g0057 a0001c0003t0001g0064 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0095 a0001c0003t0001g0125 a0001c0003t0001g0128 a0001c0003t0001g0174 a0001c0003t0001g0182 a0001c0003t0001g0192 a0001c0003t0002g0003 a0001c0003t0002g0056 a0001c0003t0002g0060 a0001c0003t0002g0084 a0001c0003t0002g0092 a0001c0003t0002g0099 a0001c0003t0002g0108 a0001c0003t0002g0112 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0002g0168 a0001c0003t0002g0195 a0001c0003t0003g0088 a0001c0003t0003g0172 a0001c0003t0013g0190 a0001c0003t0015g0194 a0001c0003t0016g0138 a0001c0013t0004g0071 a0001c0013t0004g0085 a0001c0015t0003g0094 a0001c0015t0003g0096 a0001c0021t0002g0191 a0002c0006t0002g0033 a0002c0006t0006g0212 a0002c0012t0002g0140 a0002c0012t0002g0214 a0002c0016t0002g0074 a0002c0017t0002g0201 a0004c0008t0001g0101 a0004c0008t0001g0105 a0004c0008t0008g0217 a0008c0028t0002g0130 a0009c0029t0001g0114	54	218	0.2477	-14	c.878 others(29): Show c.878-701_878-688delATATATATATATAT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	8/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL14A1_chr8_120120102_120378573	120298597	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp1 HG02896.hp2 others(1): Show HG01243.hp1 HG01433.hp1 HG02896.hp2 HG03831.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0005 a0003c0004 a0004c0008 a0001c0005 a0003c0004 a0004c0008	a0001c0005t0001 a0003c0004t0001 a0004c0008t0002 a0001c0005t0001 a0003c0004t0001 a0004c0008t0002	a0001c0005t0001g0203 a0003c0004t0001g0123 a0003c0004t0001g0196 others(1): Show a0001c0005t0001g0203 a0003c0004t0001g0123 a0003c0004t0001g0196 a0004c0008t0002g0077	4	218	0.0184	-14	c.431 others(33): Show c.4314+1038_4314+1051delTATATATATATATA	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	35/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL16A1_chr1_31647263_31709017	31707375	TTTTCTTT others(7): Show TTTTCTTTTCTTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG02145.hp1 HG02165.hp1 others(14): Show HG00609.hp1 HG02145.hp1 HG02165.hp1 HG02451.hp1 HG02622.hp1 HG02717.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03540.hp1 NA18964.hp1 NA19011.hp1 NA19070.hp2	a0001 a0004 a0024 a0001 a0004 a0024	a0001c0005 a0001c0006 a0001c0010 others(4): Show a0001c0005 a0001c0006 a0001c0010 a0001c0052 a0001c0053 a0004c0011 a0024c0057	a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 others(7): Show a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0006t0006 a0001c0010t0001 a0001c0010t0002 a0001c0052t0001 a0001c0053t0001 a0004c0011t0001 a0024c0057t0002	a0001c0005t0001g0124 a0001c0005t0001g0135 a0001c0005t0001g0136 others(14): Show a0001c0005t0001g0124 a0001c0005t0001g0135 a0001c0005t0001g0136 a0001c0005t0002g0106 a0001c0005t0002g0108 a0001c0006t0001g0120 a0001c0006t0001g0123 a0001c0006t0006g0104 a0001c0010t0001g0112 a0001c0010t0001g0113 a0001c0010t0001g0126 a0001c0010t0001g0127 a0001c0010t0002g0114 a0001c0052t0001g0105 a0001c0053t0001g0109 a0004c0011t0001g0107 a0024c0057t0002g0110	17	342	0.0497	-14	c.-35 others(25): Show c.-3587_-3574delGAAAAGAAAAGAAA	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		3359		chr1	TogoVar
COL17A1_chr10_104026286_104090880	104038231	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02109.hp1 HG02155.hp2 others(1): Show HG00544.hp2 HG02109.hp1 HG02155.hp2 NA18948.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0008 a0002c0002 a0006c0008	a0002c0002t0005 a0006c0008t0009 a0002c0002t0005 a0006c0008t0009	a0002c0002t0005g0278 a0002c0002t0005g0279 a0002c0002t0005g0280 others(1): Show a0002c0002t0005g0278 a0002c0002t0005g0279 a0002c0002t0005g0280 a0006c0008t0009g0298	4	336	0.0119	-14	c.307 others(31): Show c.3070+161_3070+174delGTGTGTGTGTGTGT	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	45/55			chr10	TogoVar
COL18A1_chr21_45400165_45518720	45479240	CACACACC others(7): Show CACACACCACACATT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0216 a0001c0002t0017g0216	1	292	0.0034	-14	c.124 others(31): Show c.1249-650_1249-637delATTACACACCACAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	9/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69921293	TATATATC others(7): Show TATATATCATATATC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0004 a0002c0009t0004	a0002c0009t0004g0129 a0002c0009t0004g0129	1	182	0.0055	-14	c.267 others(31): Show c.267-6603_267-6590delTCATATATCATATA	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	69921397	TATATCAT others(7): Show TATATCATATATATC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0018	a0002c0003t0018g0014 a0002c0003t0018g0014	1	182	0.0055	-14	c.267 others(31): Show c.267-6507_267-6494delCATATATATCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	69950674	CCACACAC others(7): Show CCACACACACACACA	C C	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0005 a0002c0011t0005	a0002c0011t0005g0076 a0002c0011t0005g0076	1	182	0.0055	-14	c.937 others(31): Show c.937-9293_937-9280delCACACACACACACA	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	9/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	69974827	TTTTGAGA others(7): Show TTTTGAGACGGAGTC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03130.hp2 others(1): Show HG02896.hp1 HG02897.hp1 HG03130.hp2 NA19030.hp2	a0002 a0002	a0002c0004 a0002c0006 a0002c0009 a0002c0004 a0002c0006 a0002c0009	a0002c0004t0001 a0002c0006t0003 a0002c0009t0004 a0002c0004t0001 a0002c0006t0003 a0002c0009t0004	a0002c0004t0001g0161 a0002c0006t0003g0065 a0002c0006t0003g0066 others(1): Show a0002c0004t0001g0161 a0002c0006t0003g0065 a0002c0006t0003g0066 a0002c0009t0004g0176	4	182	0.0220	-14	c.102 others(35): Show c.1026+11960_1026+11973delTGAGACGGAGTCTT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	11/50		INFO_REALIGN_3_PRIME	chr6	TogoVar

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