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
COL14A1_chr8_120120102_120378573	120202989	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0184 a0003c0004t0001g0184	1	218	0.0046	26	c.878 others(41): Show c.878-713_878-688dupATATATATATATATATATATATATAT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	8/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL15A1_chr9_98938907_99075787	99024268	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03239.hp2 HG02055.hp2 HG03239.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0037 a0002c0002 a0007c0037	a0002c0002t0001 a0007c0037t0001 a0002c0002t0001 a0007c0037t0001	a0002c0002t0001g0178 a0007c0037t0001g0187 a0002c0002t0001g0178 a0007c0037t0001g0187	2	310	0.0065	26	c.185 others(43): Show c.1855-598_1855-597insTTTTTTTTTTTTTTTTTTTTTTTTTT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	14/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL15A1_chr9_98938907_99075787	99066599	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0049 a0049	a0049c0071 a0049c0071	a0049c0071t0001 a0049c0071t0001	a0049c0071t0001g0278 a0049c0071t0001g0278	1	310	0.0032	26	c.365 others(43): Show c.3652-258_3652-257insTTTTTTTTTTTTTTTTTTTTTTTTTT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	39/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL16A1_chr1_31647263_31709017	31707385	T T	TTTTCTTT others(19): Show TTTTCTTTTCTTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0068	1	342	0.0029	26	c.-35 others(37): Show c.-3584_-3583insGAAAGAAAGAAAGAAAAGAAAAGAAA	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		3369		chr1	TogoVar
COL16A1_chr1_31647263_31709017	31707389	C C	CTTTTCTT others(19): Show CTTTTCTTTTCTTTTCTTTTCTTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18980.hp1 NA18962.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0248 a0001c0001t0001g0206 a0001c0001t0001g0248	2	342	0.0059	26	c.-35 others(37): Show c.-3588_-3587insAGAAAAGAAAAGAAAAGAAAAGAAAA	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		3373		chr1	TogoVar
COL18A1_chr21_45400165_45518720	45474293	T T	TTGTGTGG others(19): Show TTGTGTGGTGTGTCTCTGTGTCTTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp2 HG03130.hp1 others(1): Show HG02109.hp2 HG02630.hp2 HG03130.hp1 HG03579.hp1	a0001 a0008 a0001 a0008	a0001c0069 a0008c0018 a0001c0069 a0008c0018	a0001c0069t0005 a0008c0018t0005 a0001c0069t0005 a0008c0018t0005	a0001c0069t0005g0038 a0008c0018t0005g0067 a0008c0018t0005g0130 others(1): Show a0001c0069t0005g0038 a0008c0018t0005g0067 a0008c0018t0005g0130 a0008c0018t0005g0132	4	292	0.0137	26	c.738 others(41): Show c.738+331_738+332insTCTTGTGTGTGTGGTGTGTCTCTGTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	4/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL21A1_chr6_56051590_56252580	56097848	T T	TATATAAA others(19): Show TATATAAATATACAAAAATATATATAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0061 a0001c0001t0008g0061	1	264	0.0038	26	c.181 others(45): Show c.1812+3623_1812+3624insTTATATATATTTTTGTATATTTATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56097871	C C	CTATAAAT others(19): Show CTATAAATATATAAATATATATAAATA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0166 a0001c0002t0002g0166	1	264	0.0038	26	c.181 others(45): Show c.1812+3575_1812+3600dupTATTTATATATATTTATATATTTATA	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56097917	A A	ATAAATAT others(19): Show ATAAATATATAAATATATAAATATATG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00639.hp1 others(37): Show HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00735.hp1 HG01074.hp1 HG01168.hp2 HG01169.hp1 HG01978.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02809.hp1 HG02895.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03471.hp2 HG03491.hp2 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18941.hp2 NA18943.hp1 NA18952.hp2 NA18965.hp2 NA18975.hp1 NA19003.hp2 NA19004.hp1 NA19043.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19074.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0021	a0001c0001t0001g0101 a0001c0001t0003g0064 a0001c0001t0003g0078 others(37): Show a0001c0001t0001g0101 a0001c0001t0003g0064 a0001c0001t0003g0078 a0001c0001t0003g0082 a0001c0001t0003g0086 a0001c0001t0005g0096 a0001c0001t0005g0135 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0178 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0005g0228 a0001c0001t0005g0231 a0001c0001t0005g0233 a0001c0001t0005g0235 a0001c0001t0005g0258 a0001c0001t0006g0020 a0001c0001t0006g0022 a0001c0001t0008g0036 a0001c0001t0008g0041 a0001c0001t0008g0042 a0001c0001t0008g0054 a0001c0001t0008g0058 a0001c0001t0008g0059 a0001c0001t0009g0031 a0001c0001t0009g0033 a0001c0001t0009g0034 a0001c0001t0009g0039 a0001c0001t0009g0040 a0001c0001t0011g0007 a0001c0001t0011g0008 a0001c0001t0011g0025 a0001c0001t0012g0002 a0001c0001t0012g0003 a0001c0001t0018g0032 a0001c0001t0021g0139	40	264	0.1515	26	c.181 others(45): Show c.1812+3554_1812+3555insCATATATTTATATATTTATATATTTA	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098638	A A	AATATATA others(19): Show AATATATAAATATATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02922.hp1 HG02647.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0029 a0001c0001t0006g0018 a0001c0001t0003g0029 a0001c0001t0006g0018	2	264	0.0076	26	c.181 others(45): Show c.1812+2833_1812+2834insATATATTTATATATATATTTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56148338	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp2 HG03654.hp1 others(2): Show HG01884.hp2 HG02572.hp2 HG03654.hp1 HG03654.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0001t0008 a0001c0014t0010 a0001c0001t0001 a0001c0001t0008 a0001c0014t0010	a0001c0001t0001g0236 a0001c0001t0001g0253 a0001c0001t0001g0255 others(2): Show a0001c0001t0001g0236 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0008g0061 a0001c0014t0010g0010	5	264	0.0189	26	c.143 others(45): Show c.1435-6381_1435-6356dupCTCTCTCTCTCTCTCTCTCTCTCTCT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	10/29			chr6	TogoVar
COL22A1_chr8_138583235_138919041	138623237	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG06807.hp2 HG02451.hp1 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0024 a0004c0040 a0001c0024 a0004c0040	a0001c0024t0004 a0004c0040t0004 a0001c0024t0004 a0004c0040t0004	a0001c0024t0004g0136 a0004c0040t0004g0035 a0001c0024t0004g0136 a0004c0040t0004g0035	2	158	0.0127	26	c.377 others(43): Show c.3771+494_3771+495insATATATATATATATATATATATATAT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	52/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138663012	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp1 HG00741.hp2 others(14): Show HG00280.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01255.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01981.hp1 HG02280.hp1 HG02451.hp2 HG02895.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0002 a0001c0006 others(8): Show a0001c0001 a0001c0002 a0001c0006 a0002c0007 a0002c0022 a0002c0023 a0002c0052 a0003c0013 a0005c0021 a0005c0051 a0006c0038	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0006t0001 a0002c0007t0001 a0002c0022t0001 a0002c0023t0001 a0002c0052t0002 a0003c0013t0001 a0003c0013t0003 a0005c0021t0001 a0005c0051t0001 a0006c0038t0004	a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0129 others(14): Show a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0129 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0002t0003g0009 a0001c0006t0001g0054 a0002c0007t0001g0137 a0002c0022t0001g0040 a0002c0023t0001g0036 a0002c0052t0002g0058 a0003c0013t0001g0125 a0003c0013t0003g0002 a0005c0021t0001g0070 a0005c0021t0001g0079 a0005c0051t0001g0052 a0006c0038t0004g0033	17	158	0.1076	26	c.318 others(43): Show c.3186+692_3186+693insTGTGTGTGTGTGTGTGTGTGTGTGTG	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	42/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138663012	T T	TCTCACAC others(19): Show TCTCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0038 a0001c0026t0001g0038	1	158	0.0063	26	c.318 others(43): Show c.3186+692_3186+693insTGTGTGTGTGTGTGTGTGTGTGTGAG	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	42/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138795528	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0132 a0001c0016t0001g0132	1	158	0.0063	26	c.159 others(45): Show c.1596+1265_1596+1290dupGTGTGTGTGTGTGTGTGTGTGTGTGT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	12/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178258236	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0151 a0002c0003t0005g0151	1	236	0.0042	26	c.730 others(41): Show c.730-695_730-670dupATATATATATATATATATATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	12/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178258262	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0096 a0002c0002t0001g0096	1	236	0.0042	26	c.730 others(41): Show c.730-696_730-695insGTGTATATATATATATATATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	12/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178258262	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02015.hp1 HG01517.hp2 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0181 a0002c0002t0001g0064 a0002c0002t0001g0181	2	236	0.0085	26	c.730 others(41): Show c.730-696_730-695insGTATATATATATATATATATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	12/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178523163	C C	CATATATA others(19): Show CATATATATATATATATATATACACAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	236	0.0042	26	c.361 others(45): Show c.361+37518_361+37519insATGTGTATATATATATATATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	85799211	A A	AAAAAAGA others(19): Show AAAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0006 a0006	a0006c0047 a0006c0047	a0006c0047t0005 a0006c0047t0005	a0006c0047t0005g0010 a0006c0047t0005g0010	1	238	0.0042	26	c.395 others(47): Show c.3952-12751_3952-12750insCTTTCTTTCTTTCTTTCTTTCTTT TT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	47/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85906264	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01169.hp1 HG02055.hp1 others(4): Show HG00639.hp1 HG01169.hp1 HG02055.hp1 HG03225.hp2 HG03471.hp1 NA18961.hp1 NA19240.hp1	a0001 a0003 a0013 others(3): Show a0001 a0003 a0013 a0025 a0034 a0043	a0001c0005 a0003c0019 a0013c0018 others(3): Show a0001c0005 a0003c0019 a0013c0018 a0025c0033 a0034c0053 a0043c0069	a0001c0005t0003 a0003c0019t0003 a0013c0018t0004 others(3): Show a0001c0005t0003 a0003c0019t0003 a0013c0018t0004 a0025c0033t0001 a0034c0053t0009 a0043c0069t0004	a0001c0005t0003g0224 a0003c0019t0003g0067 a0003c0019t0003g0070 others(4): Show a0001c0005t0003g0224 a0003c0019t0003g0067 a0003c0019t0003g0070 a0013c0018t0004g0061 a0025c0033t0001g0231 a0034c0053t0009g0006 a0043c0069t0004g0124	7	238	0.0294	26	c.277 others(43): Show c.2778+929_2778+930insAAAAAAAAAAAAAAAAAAAAAAAAAA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	28/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	86097458	T T	TTCCTCCC others(19): Show TTCCTCCCTCCTCCTCCTCCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	238	0.0042	26	c.160 others(45): Show c.1600-5164_1600-5139dupGGAGGAGGGAGGAGGAGGAGGGAGGA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	5/59			chr1	TogoVar
COL25A1_chr4_108803725_109307658	109019373	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0042 a0001c0002t0005g0042	1	130	0.0077	26	c.421 others(43): Show c.421-8999_421-8998insATATATATATATATATATATATATAT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	5/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109019375	C C	CACATATA others(19): Show CACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0087 a0001c0002t0008g0087	1	130	0.0077	26	c.421 others(43): Show c.421-9001_421-9000insATATATATATATATATATATATATGT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	5/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109019375	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0009 a0001c0001t0016g0009	1	130	0.0077	26	c.421 others(43): Show c.421-9001_421-9000insATATATATATATATATATATATATAT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	5/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109250369	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02071.hp1 HG02523.hp2 others(10): Show HG02056.hp1 HG02071.hp1 HG02523.hp2 HG02622.hp1 HG02630.hp2 HG02809.hp1 HG02886.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp2 NA19062.hp2 NA19079.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0002t0001 a0001c0002t0013 a0001c0009t0002	a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0081 others(10): Show a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0081 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0003g0002 a0001c0001t0007g0090 a0001c0002t0001g0089 a0001c0002t0001g0093 a0001c0002t0013g0070 a0001c0009t0002g0097	13	130	0.1000	26	c.367 others(45): Show c.367+50188_367+50213dupGTGTGTGTGTGTGTGTGTGTGTGTGT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109254469	T T	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	130	0.0077	26	c.367 others(45): Show c.367+46113_367+46114insTATATATATATATATATATATATAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109256085	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03195.hp1 HG02922.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0074 a0001c0001t0002g0118 a0001c0001t0001g0074 a0001c0001t0002g0118	2	130	0.0154	26	c.367 others(45): Show c.367+44472_367+44497dupACACACACACACACACACACACACAC	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL26A1_chr7_101357875_101564024	101390571	A A	ATGCACTA others(19): Show ATGCACTACCATGCCTGGCTACTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0085 a0001c0005t0008g0085	1	174	0.0058	26	c.158 others(45): Show c.158+27382_158+27407dupTGCACTACCATGCCTGGCTACTTTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101510027	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02451.hp2 HG01884.hp2 HG02451.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0005 a0001c0005t0029 a0001c0001t0002 a0001c0005t0005 a0001c0005t0029	a0001c0001t0002g0151 a0001c0005t0005g0144 a0001c0005t0029g0092 a0001c0001t0002g0151 a0001c0005t0005g0144 a0001c0005t0029g0092	3	174	0.0172	26	c.386 others(45): Show c.386-23041_386-23040insTTTTTTTTTTTTTTTTTTTTTTTTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101520662	A A	ACACACAC others(19): Show ACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0169 a0001c0001t0008g0169	1	174	0.0058	26	c.386 others(45): Show c.386-12419_386-12418insACACACACACACACACACACACACCC	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL28A1_chr7_7352875_7540873	7374038	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp1 HG01884.hp1 HG02647.hp1	a0012 a0020 a0012 a0020	a0012c0035 a0020c0022 a0012c0035 a0020c0022	a0012c0035t0002 a0020c0022t0002 a0012c0035t0002 a0020c0022t0002	a0012c0035t0002g0072 a0020c0022t0002g0163 a0012c0035t0002g0072 a0020c0022t0002g0163	2	196	0.0102	26	c.236 others(43): Show c.2360-493_2360-492insATATATATATATTTTTTTTTTTTTTT	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	31/34			chr7	TogoVar
COL4A1_chr13_110143963_110312157	110219662	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18906.hp1 HG02257.hp1 NA18906.hp1	a0002 a0004 a0002 a0004	a0002c0018 a0004c0067 a0002c0018 a0004c0067	a0002c0018t0001 a0004c0067t0001 a0002c0018t0001 a0004c0067t0001	a0002c0018t0001g0176 a0004c0067t0001g0007 a0002c0018t0001g0176 a0004c0067t0001g0007	2	344	0.0058	26	c.145 others(43): Show c.145-5648_145-5647insTATACATATATATATATATATATACA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110509245	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0100 a0001c0002t0005g0100	1	372	0.0027	26	c.488 others(45): Show c.4881+1025_4881+1050dupTATATATATATATATATATATATATA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	47/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227202979	A A	ATATGTGT others(19): Show ATATGTGTATATATACACATATATGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0003 a0003c0011t0003	a0003c0011t0003g0337 a0003c0011t0003g0337	1	344	0.0029	26	c.88- others(43): Show c.88-34987_88-34986insTGTGTATATATACACATATATGTGTA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203112	T T	TATATATA others(19): Show TATATATACATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0204 a0005c0005t0002g0204	1	344	0.0029	26	c.88- others(43): Show c.88-34850_88-34849insACATATATGTGTATATATACATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203140	T T	TATATATA others(19): Show TATATATACATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0234 a0002c0004t0006g0234	1	344	0.0029	26	c.88- others(43): Show c.88-34822_88-34821insACATATATGTGTATATATACATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203168	T T	TATATATA others(19): Show TATATATACATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	344	0.0029	26	c.88- others(43): Show c.88-34794_88-34793insACATATATGTGTATATATACATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203203	G G	GTGTATAT others(19): Show GTGTATATATGTGTATATATACATATA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0192 a0004c0003t0004g0192	1	344	0.0029	26	c.88- others(43): Show c.88-34757_88-34756insTGTGTATATATACATATATGTATATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203214	C C	CGTATATA others(19): Show CGTATATATACATATATGTGTATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02615.hp1 HG02723.hp2 others(1): Show HG00609.hp1 HG02615.hp1 HG02723.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0024 a0001c0001t0002 a0001c0001t0005 a0001c0001t0024	a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0005g0051 others(1): Show a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0005g0051 a0001c0001t0024g0290	4	344	0.0116	26	c.88- others(43): Show c.88-34754_88-34753insGTATATATACATATATGTGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203244	C C	CACACACA others(19): Show CACACACATATGTGTATATATGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG01109.hp2 HG02055.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0003 a0003c0011t0003	a0003c0011t0003g0010 a0003c0011t0003g0337 a0003c0011t0003g0010 a0003c0011t0003g0337	2	344	0.0058	26	c.88- others(43): Show c.88-34723_88-34722insCACACATATGTGTATATATGTGTGTA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203559	A A	ATATACAT others(19): Show ATATACATATATGTGTGTATATATGTG	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA19240.hp1 HG03209.hp1 NA19240.hp1	a0006 a0006	a0006c0010 a0006c0031 a0006c0010 a0006c0031	a0006c0010t0006 a0006c0031t0006 a0006c0010t0006 a0006c0031t0006	a0006c0010t0006g0113 a0006c0031t0006g0081 a0006c0010t0006g0113 a0006c0031t0006g0081	2	344	0.0058	26	c.88- others(43): Show c.88-34405_88-34404insCATATATGTGTGTATATATGTGTATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203589	A A	ATATACAT others(19): Show ATATACATATATGTGTGTATATATGTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01433.hp2 others(1): Show HG01167.hp2 HG01169.hp1 HG01433.hp2 NA19030.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0016 a0001c0001 a0006c0016	a0001c0001t0001 a0006c0016t0006 a0001c0001t0001 a0006c0016t0006	a0001c0001t0001g0119 a0001c0001t0001g0219 a0001c0001t0001g0284 others(1): Show a0001c0001t0001g0119 a0001c0001t0001g0219 a0001c0001t0001g0284 a0006c0016t0006g0267	4	344	0.0116	26	c.88- others(43): Show c.88-34375_88-34374insCATATATGTGTGTATATATGTGTATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203603	G G	GTGTATAT others(19): Show GTGTATATATGTGTATATATACATATA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	344	0.0029	26	c.88- others(43): Show c.88-34362_88-34361insATATATGTGTATATATACATATATGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203663	G G	GTGTATAT others(19): Show GTGTATATATGTGTATATATACATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00673.hp2 others(14): Show HG00280.hp1 HG00438.hp2 HG00673.hp2 HG02257.hp2 HG02615.hp2 HG02647.hp1 HG02723.hp1 HG02886.hp2 HG03491.hp1 HG06807.hp2 NA18747.hp1 NA18968.hp2 NA18977.hp1 NA18980.hp1 NA18995.hp1 NA19060.hp2 NA20129.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0008 a0010 a0012 a0035 a0036	a0001c0001 a0002c0004 a0002c0007 others(8): Show a0001c0001 a0002c0004 a0002c0007 a0003c0002 a0003c0011 a0004c0003 a0008c0009 a0010c0014 a0012c0017 a0035c0058 a0036c0057	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0004t0008 a0002c0007t0003 a0003c0002t0003 a0003c0011t0022 a0004c0003t0003 a0008c0009t0001 a0010c0014t0002 a0012c0017t0006 a0035c0058t0001 a0036c0057t0011	a0001c0001t0001g0121 a0001c0001t0001g0248 a0001c0001t0002g0286 others(14): Show a0001c0001t0001g0121 a0001c0001t0001g0248 a0001c0001t0002g0286 a0001c0001t0003g0274 a0002c0004t0008g0332 a0002c0004t0008g0333 a0002c0007t0003g0244 a0003c0002t0003g0137 a0003c0002t0003g0326 a0003c0011t0022g0001 a0004c0003t0003g0031 a0008c0009t0001g0106 a0010c0014t0002g0086 a0010c0014t0002g0324 a0012c0017t0006g0003 a0035c0058t0001g0008 a0036c0057t0011g0006	17	344	0.0494	26	c.88- others(43): Show c.88-34302_88-34301insATATATGTGTATATATACATATATGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203759	A A	ATATGTGT others(19): Show ATATGTGTATATATACATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03098.hp1 HG01106.hp2 HG03098.hp1	a0002 a0018 a0002 a0018	a0002c0007 a0018c0028 a0002c0007 a0018c0028	a0002c0007t0003 a0018c0028t0003 a0002c0007t0003 a0018c0028t0003	a0002c0007t0003g0037 a0018c0028t0003g0012 a0002c0007t0003g0037 a0018c0028t0003g0012	2	344	0.0058	26	c.88- others(43): Show c.88-34206_88-34205insGTGTATATATACATATATGTGTGTAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	344	0.0029	26	c.546 others(41): Show c.546+711_546+712insATATATATATATATATATATATATTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(19): Show ATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0002 a0010c0014t0002	a0010c0014t0002g0324 a0010c0014t0002g0324	1	344	0.0029	26	c.546 others(41): Show c.546+711_546+712insATATATATATATATTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03486.hp1 HG02109.hp1 HG03486.hp1	a0002 a0020 a0002 a0020	a0002c0007 a0020c0050 a0002c0007 a0020c0050	a0002c0007t0010 a0020c0050t0011 a0002c0007t0010 a0020c0050t0011	a0002c0007t0010g0336 a0020c0050t0011g0061 a0002c0007t0010g0336 a0020c0050t0011g0061	2	344	0.0058	26	c.546 others(41): Show c.546+711_546+712insATATATATATATTTTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(19): Show ATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0054 a0003c0002t0001g0054	1	344	0.0029	26	c.546 others(41): Show c.546+711_546+712insATATATATATTTTTTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar

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