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
COL4A3_chr2_227159624_227319792	227282273	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0001 a0012c0022t0001	a0012c0022t0001g0069 a0012c0022t0001g0069	1	344	0.0029	26	c.248 others(41): Show c.2489-91_2489-90insTATATATATATATATATATATATATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	31/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227010556	A A	ATATGTTA others(19): Show ATATGTTAAGCACCTCTGTTCTGGCAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0035 a0035	a0035c0037 a0035c0037	a0035c0037t0016 a0035c0037t0016	a0035c0037t0016g0003 a0035c0037t0016g0003	1	284	0.0035	26	c.433 others(41): Show c.4334-81_4334-56dupGTGCCAGAACAGAGGTGCTTAACATA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	45/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227089588	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18939.hp1 HG01934.hp1 NA18939.hp1	a0002 a0012 a0002 a0012	a0002c0002 a0012c0011 a0002c0002 a0012c0011	a0002c0002t0002 a0012c0011t0003 a0002c0002t0002 a0012c0011t0003	a0002c0002t0002g0140 a0012c0011t0003g0138 a0002c0002t0002g0140 a0012c0011t0003g0138	2	284	0.0070	26	c.145 others(43): Show c.1459+279_1459+280insATATATATATATATATATATATATAT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	21/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227089608	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03453.hp1 HG03209.hp2 HG03453.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0005 a0002c0019t0005	a0002c0019t0005g0029 a0002c0019t0005g0166 a0002c0019t0005g0029 a0002c0019t0005g0166	2	284	0.0070	26	c.145 others(43): Show c.1459+259_1459+260insGTATATATATATATATATATATATAT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	21/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227089611	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0004 a0007c0006t0004	a0007c0006t0004g0181 a0007c0006t0004g0181	1	284	0.0035	26	c.145 others(43): Show c.1459+256_1459+257insCATATATATATATATATATATATATA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	21/47			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108467603	A A	ATATATTC others(19): Show ATATATTCCCCCCCCCCCTCCCCCCCT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0109 a0003c0005t0001g0109	1	269	0.0037	26	c.81+ others(43): Show c.81+27399_81+27400insTATTCCCCCCCCCCCTCCCCCCCTTA	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108526595	C C	CCTTTCTT others(19): Show CCTTTCTTTCCCTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	269	0.0037	26	c.82- others(43): Show c.82-13142_82-13141insCCTTCCTTTCTTTCTTTCTTTCTTTC	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL5A1_chr9_134636803_134849843	134760082	G G	GCATACAC others(19): Show GCATACACGCCCACACACCCCCACACT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0025 a0001c0002t0005g0025	1	272	0.0037	26	c.193 others(45): Show c.1936-1814_1936-1789dupTACACGCCCACACACCCCCACACTCA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A3_chr19_9954561_10015504	9977947	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0034 a0034	a0034c0131 a0034c0131	a0034c0131t0001 a0034c0131t0001	a0034c0131t0001g0292 a0034c0131t0001g0292	1	412	0.0024	26	c.301 others(43): Show c.3019-272_3019-247dupATATATATATATATATATATATATAT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	41/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9988855	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAGAGAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00673.hp2 others(3): Show HG00408.hp2 HG00423.hp1 HG00673.hp2 NA18948.hp2 NA18986.hp2 NA19079.hp1	a0004 a0061 a0004 a0061	a0004c0010 a0004c0013 a0061c0109 a0004c0010 a0004c0013 a0061c0109	a0004c0010t0004 a0004c0013t0004 a0004c0013t0019 others(1): Show a0004c0010t0004 a0004c0013t0004 a0004c0013t0019 a0061c0109t0004	a0004c0010t0004g0157 a0004c0010t0004g0159 a0004c0013t0004g0099 others(3): Show a0004c0010t0004g0157 a0004c0010t0004g0159 a0004c0013t0004g0099 a0004c0013t0004g0308 a0004c0013t0019g0097 a0061c0109t0004g0081	6	412	0.0146	26	c.214 others(43): Show c.2145+268_2145+269insCTTTCTCTCTCTCTTTTTTTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	27/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45981680	T T	TCCCCGCC others(19): Show TCCCCGCCCCGCCCCCTCCCCTCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	128	0.0078	26	c.-17 others(35): Show c.-171_-170insCCCCGCCCCGCCCCCTCCCCTCCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		89		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981680	T T	TCCCGCCC others(19): Show TCCCGCCCCCTCCCCTCGCCCTCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	128	0.0078	26	c.-17 others(35): Show c.-171_-170insCCCGCCCCCTCCCCTCGCCCTCCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		89		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135345	T T	TCCCCACA others(19): Show TCCCCACATGGTCCCAACACCAATGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0064 a0002c0003t0001g0064	1	364	0.0028	26	c.27 others(37): Show c.2793_*2794insCCCCACATGGTCCCAACACCAATGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2498		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135350	T T	TCATGGTC others(19): Show TCATGGTCCCAACACCAATGTCCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0001 a0002c0031t0001	a0002c0031t0001g0220 a0002c0031t0001g0220	1	364	0.0028	26	c.27 others(37): Show c.2798_*2799insCATGGTCCCAACACCAATGTCCCCAA	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2503		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135886	C C	CCCCTCCC others(19): Show CCCCTCCCAGCATTCCCTCCCAGCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show HG00639.hp2 HG02055.hp2 HG02083.hp2 HG02965.hp1 HG02970.hp1 HG03516.hp1 HG03710.hp1 HG04115.hp2 HG04204.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0013	a0001c0007 a0001c0035 a0002c0013 others(4): Show a0001c0007 a0001c0035 a0002c0013 a0002c0031 a0002c0055 a0003c0063 a0013c0057	a0001c0007t0001 a0001c0035t0001 a0002c0013t0001 others(4): Show a0001c0007t0001 a0001c0035t0001 a0002c0013t0001 a0002c0031t0001 a0002c0055t0001 a0003c0063t0001 a0013c0057t0001	a0001c0007t0001g0302 a0001c0035t0001g0052 a0002c0013t0001g0217 others(6): Show a0001c0007t0001g0302 a0001c0035t0001g0052 a0002c0013t0001g0217 a0002c0013t0001g0219 a0002c0031t0001g0218 a0002c0031t0001g0220 a0002c0055t0001g0048 a0003c0063t0001g0046 a0013c0057t0001g0221	9	364	0.0247	26	c.33 others(37): Show c.3334_*3335insCCCTCCCAGCATTCCCTCCCAGCATT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		3039		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237332117	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0004 a0004	a0004c0119 a0004c0119	a0004c0119t0002 a0004c0119t0002	a0004c0119t0002g0074 a0004c0119t0002g0074	1	322	0.0031	26	c.932 others(45): Show c.9328+1332_9328+1333insCATATATATATATATATATATATATA	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A6_chr3_130512177_130682042	130531056	A A	AGTCTCTC others(19): Show AGTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0021 a0021	a0021c0030 a0021c0030	a0021c0030t0004 a0021c0030t0004	a0021c0030t0004g0103 a0021c0030t0004g0103	1	264	0.0038	26	c.-32 others(45): Show c.-32+13659_-32+13660insGTCTCTCTCTCTCTCTCTCTCTCTCT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	1/36			chr3	TogoVar
COL8A1_chr3_99633594_99804217	99669123	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA19009.hp2 NA18969.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0194 a0001c0001t0003g0195	2	262	0.0076	26	c.-12 others(47): Show c.-129+30483_-129+30484insTATATATATATATATATATATATA TA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99669146	T T	TATATATA others(19): Show TATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0200	1	262	0.0038	26	c.-12 others(47): Show c.-129+30483_-129+30484insTATATATATATAGAGAGAGAGAGA GA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99669146	T T	TATATATA others(19): Show TATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	262	0.0038	26	c.-12 others(47): Show c.-129+30483_-129+30484insTATATATATATATATAGAGAGAGA GA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99669146	T T	TATATATA others(19): Show TATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	262	0.0038	26	c.-12 others(47): Show c.-129+30483_-129+30484insTATATATATATATATATAGAGAGA GA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99669146	T T	TATATATA others(19): Show TATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	262	0.0038	26	c.-12 others(47): Show c.-129+30483_-129+30484insTATATATATATATATATATATATA GA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0214 a0001c0001t0004g0214	1	262	0.0038	26	c.-3- others(43): Show c.-3-16842_-3-16841insATATATATATATATATATATTTTTTT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATTATA others(19): Show ATATTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18953.hp2 NA18983.hp1 HG03831.hp1 NA18953.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0117 a0001c0001t0001g0237 a0001c0001t0001g0023 a0001c0001t0001g0117 a0001c0001t0001g0237	3	262	0.0115	26	c.-3- others(43): Show c.-3-16842_-3-16841insATTATATATATATATATATATATATT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773837	A A	ATATTATA others(19): Show ATATTATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	262	0.0038	26	c.-3- others(43): Show c.-3-16842_-3-16841insATTATATATATATATATATATATTTT	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773838	T T	TATATTAT others(19): Show TATATTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	262	0.0038	26	c.-3- others(43): Show c.-3-16842_-3-16841insATATTATATATATATATATATATATA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3			chr3	TogoVar
COL8A1_chr3_99633594_99804217	99773838	T T	TATTATAT others(19): Show TATTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01168.hp1 HG01169.hp1 others(4): Show HG00558.hp1 HG01168.hp1 HG01169.hp1 HG01256.hp2 HG01258.hp2 HG02280.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0058 a0001c0001t0001g0068 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0113 a0001c0001t0001g0176 a0001c0001t0001g0246	7	262	0.0267	26	c.-3- others(43): Show c.-3-16842_-3-16841insATTATATATATATATATATATATATA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	2/3			chr3	TogoVar
COL9A1_chr6_70211126_70308084	70227424	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03491.hp2 HG03831.hp1 others(9): Show HG02040.hp1 HG03491.hp2 HG03831.hp1 NA18945.hp2 NA18966.hp2 NA18970.hp2 NA18972.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA19007.hp2 NA19076.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0030 a0003c0006 a0003c0013 others(1): Show a0001c0030 a0003c0006 a0003c0013 a0007c0014	a0001c0030t0003 a0003c0006t0003 a0003c0013t0003 others(1): Show a0001c0030t0003 a0003c0006t0003 a0003c0013t0003 a0007c0014t0001	a0001c0030t0003g0121 a0003c0006t0003g0003 a0003c0006t0003g0026 others(8): Show a0001c0030t0003g0121 a0003c0006t0003g0003 a0003c0006t0003g0026 a0003c0006t0003g0027 a0003c0006t0003g0037 a0003c0006t0003g0067 a0003c0006t0003g0074 a0003c0006t0003g0158 a0003c0006t0003g0314 a0003c0013t0003g0160 a0007c0014t0001g0224	12	362	0.0332	26	c.250 others(45): Show c.2504-1416_2504-1415insTTTTTTTTTTTTTTTTTTTTTTTTTT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	36/37			chr6	TogoVar
COL9A1_chr6_70211126_70308084	70279648	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0059 a0002c0004t0001g0059	1	362	0.0028	26	c.975 others(43): Show c.975+1163_975+1164insTTTTTTTTTTTTTTTTTTTTTTTTTT	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	10/37			chr6	TogoVar
COL9A2_chr1_40295489_40322286	40318295	C C	CATACATA others(19): Show CATACATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	438	0.0023	26	c.-10 others(37): Show c.-1099_-1098insATATATATATATATATATATATGTAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1010		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	438	0.0023	26	c.-11 others(37): Show c.-1118_-1117insAAAAAATATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321123	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	438	0.0023	26	c.-39 others(37): Show c.-3927_-3926insTATATATATATATATATATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3838		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321158	T T	TATATATA others(19): Show TATATATATATATATATATATATAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0019 a0019	a0019c0024 a0019c0024	a0019c0024t0001 a0019c0024t0001	a0019c0024t0001g0092 a0019c0024t0001g0092	1	438	0.0023	26	c.-39 others(37): Show c.-3962_-3961insTTTTATATATATATATATATATATAT	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3873		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40321477	G G	GCTCAGGC others(19): Show GCTCAGGCAGGAGAATCACTTGAGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0012 a0005c0004t0002g0012	1	438	0.0023	26	c.-42 others(37): Show c.-4281_-4280insAGCCTCAAGTGATTCTCCTGCCTGAG	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		4192		chr1	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	388	0.0026	26	c.148 others(43): Show c.148+2201_148+2202insAAAAAATATATATATATATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119091595	G G	GAGAGAGA others(19): Show GAGAGAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0240	1	388	0.0026	26	c.292 others(41): Show c.292+378_292+379insGAGAGAAAGAAAGAAAGAAAGAAAGA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC11_chr2_3590112_3649644	3640963	C C	CCCGTCAC others(19): Show CCCGTCACATCCCACGGCGGACACCCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01884.hp2 HG02486.hp2 others(13): Show HG00738.hp1 HG01884.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 NA18940.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0006 others(1): Show a0001c0001 a0002c0002 a0002c0006 a0003c0010	a0001c0001t0001 a0002c0002t0001 a0002c0006t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0006t0001 a0003c0010t0001	a0001c0001t0001g0195 a0001c0001t0001g0209 a0001c0001t0001g0282 others(12): Show a0001c0001t0001g0195 a0001c0001t0001g0209 a0001c0001t0001g0282 a0002c0002t0001g0011 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0324 a0002c0006t0001g0031 a0002c0006t0001g0200 a0002c0006t0001g0315 a0002c0006t0001g0329 a0002c0006t0001g0333 a0003c0010t0001g0357	16	378	0.0423	26	c.328 others(41): Show c.328+632_328+633insCCGTCACATCCCACGGCGGACACCCA	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	5/6			chr2	TogoVar
COLEC12_chr18_311737_505701	312207	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01168.hp1 HG01169.hp2 others(11): Show HG00558.hp2 HG01168.hp1 HG01169.hp2 HG01934.hp1 HG01975.hp2 HG02080.hp1 HG03540.hp2 NA18954.hp1 NA18957.hp2 NA18962.hp2 NA18982.hp2 NA19082.hp2 NA19087.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0004 a0001c0005 others(2): Show a0001c0003 a0001c0004 a0001c0005 a0002c0001 a0003c0002	a0001c0003t0006 a0001c0003t0057 a0001c0003t0061 others(10): Show a0001c0003t0006 a0001c0003t0057 a0001c0003t0061 a0001c0004t0082 a0001c0005t0007 a0001c0005t0029 a0002c0001t0010 a0003c0002t0002 a0003c0002t0007 a0003c0002t0011 a0003c0002t0030 a0003c0002t0143 a0003c0002t0187	a0001c0003t0006g0277 a0001c0003t0057g0037 a0001c0003t0061g0292 others(11): Show a0001c0003t0006g0277 a0001c0003t0057g0037 a0001c0003t0061g0292 a0001c0004t0082g0010 a0001c0005t0007g0225 a0001c0005t0029g0287 a0001c0005t0029g0316 a0002c0001t0010g0063 a0003c0002t0002g0059 a0003c0002t0007g0207 a0003c0002t0011g0032 a0003c0002t0030g0094 a0003c0002t0143g0076 a0003c0002t0187g0229	14	366	0.0383	26	c.78 others(37): Show c.7837_*7838insATATATATATATATATATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4529		chr18	TogoVar
COLGALT2_chr1_183930834_184042728	183977812	A A	AAGAGAGA others(19): Show AAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0050 a0001c0002t0006g0050	1	340	0.0029	26	c.374 others(41): Show c.374+597_374+598insCTCTCTCTCTCTCTCTCTCTCTCTCT	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	2/11			chr1	TogoVar
COMMD10_chr5_116080025_116298287	116140231	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	350	0.0029	26	c.510 others(43): Show c.510+6078_510+6079insGTGTGTGTGTGTGTGTGTGTGTGTGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116212496	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02165.hp1 HG03195.hp1 others(1): Show HG02148.hp1 HG02165.hp1 HG03195.hp1 NA18999.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0003 a0002c0003t0001 a0001c0001t0001 a0001c0002t0003 a0002c0003t0001	a0001c0001t0001g0249 a0001c0001t0001g0290 a0001c0002t0003g0071 others(1): Show a0001c0001t0001g0249 a0001c0001t0001g0290 a0001c0002t0003g0071 a0002c0003t0001g0018	4	350	0.0114	26	c.510 others(45): Show c.510+78320_510+78345dupGTGTGTGTGTGTGTGTGTGTGTGTGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116212522	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01071.hp2 HG01192.hp1 others(21): Show HG00408.hp1 HG01071.hp2 HG01192.hp1 HG01255.hp1 HG01934.hp2 HG02083.hp2 HG02145.hp1 HG02300.hp2 HG02602.hp2 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18950.hp1 NA18964.hp1 NA18968.hp2 NA18972.hp2 NA18977.hp2 NA18979.hp1 NA18992.hp2 NA19062.hp1 NA19070.hp2 NA19084.hp2 NA19087.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0222 a0001c0001t0001g0232 a0001c0001t0001g0233 others(21): Show a0001c0001t0001g0222 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0002t0001g0094 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0129 a0001c0002t0001g0141 a0001c0002t0001g0146 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0172	24	350	0.0686	26	c.510 others(45): Show c.510+78345_510+78346insGTGTGTGTGTGTGTGTGTGTGTGTAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD1_chr2_61900674_62141058	62063868	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01192.hp1 HG01243.hp1 others(14): Show HG01071.hp2 HG01192.hp1 HG01243.hp1 HG02074.hp1 HG02135.hp1 HG02622.hp1 HG02698.hp1 HG02809.hp2 HG02818.hp1 HG03098.hp1 HG03834.hp1 HG03927.hp2 HG04204.hp2 NA18522.hp1 NA18966.hp2 NA19002.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0084 others(14): Show a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0168 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0263 a0001c0001t0001g0279 a0001c0001t0002g0252	17	286	0.0594	26	c.462 others(45): Show c.462+62891_462+62916dupATATATATATATATATATATATATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62095807	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03098.hp2 HG03209.hp2 others(3): Show HG01891.hp2 HG03098.hp2 HG03209.hp2 NA18522.hp2 NA18941.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0045 a0001c0001t0001g0093 a0001c0001t0001g0235 others(3): Show a0001c0001t0001g0045 a0001c0001t0001g0093 a0001c0001t0001g0235 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256	6	286	0.0210	26	c.463 others(45): Show c.463-40010_463-40009insATATATATATATATATATATATATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD9_chr11_36267292_36294424	36270136	C C	CGAGAGAG others(19): Show CGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0036 a0001c0001t0005g0036	1	448	0.0022	26	c.44 others(37): Show c.4495_*4496insTCTCTCTCTCTCTCTCTCTCTCTCTC	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding		2155		chr11	TogoVar
COMMD9_chr11_36267292_36294424	36270137	T T	TAGAGAGA others(19): Show TAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01243.hp2 HG03654.hp2 others(1): Show HG00609.hp1 HG01243.hp2 HG03654.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0003g0001 others(1): Show a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0003g0001 a0001c0001t0003g0223	4	448	0.0089	26	c.44 others(37): Show c.4469_*4494dupCTCTCTCTCTCTCTCTCTCTCTCTCT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding		2154		chr11	TogoVar
COMP_chr19_18777773_18796305	18787864	C C	CTTTTTCT others(19): Show CTTTTTCTTTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG03471.hp2 others(2): Show HG02257.hp2 HG02559.hp1 HG03471.hp2 HG04199.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0145 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0145 a0001c0001t0001g0170	5	398	0.0126	26	c.976 others(41): Show c.976-215_976-214insAAGAAAGAAAGAAAGAAAAAGAAAAA	COMP	ENSG00000105664.11	transcript	ENST00000222271.7	protein_coding	9/18			chr19	TogoVar
COMTD1_chr10_75228641_75240957	75232748	T T	TTTTTTTT others(19): Show TTTTTTTTTTTTTTTTTTTTTTTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	26	c.13 others(37): Show c.1324_*1325insGAAAAAAAAAAAAAAAAAAAAAAAAA	COMTD1	ENSG00000165644.11	transcript	ENST00000372538.8	protein_coding		892		chr10	TogoVar
COP1_chr1_175939831_176212286	175951437	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01071.hp2 others(8): Show HG01070.hp1 HG01070.hp2 HG01071.hp2 HG03927.hp1 HG04115.hp1 NA18970.hp1 NA19054.hp1 NA19062.hp1 NA19074.hp2 NA19090.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0054 a0001c0001t0001g0079 a0001c0001t0001g0088 others(8): Show a0001c0001t0001g0054 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0127 a0002c0003t0001g0263 a0002c0003t0001g0264	11	300	0.0367	26	c.213 others(45): Show c.2134-4199_2134-4198insATATATATATATATATATATATATAT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COP1_chr1_175939831_176212286	175955766	C C	CCACACAC others(19): Show CCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	300	0.0033	26	c.213 others(45): Show c.2134-8553_2134-8528dupTGTGTGTGTGTGTGTGTGTGTGTGTG	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar

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