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
COL5A1_chr9_134636803_134849843	134654406	TGTGTGTA others(9): Show TGTGTGTAGGGCTGGAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp2 HG01175.hp2 others(20): Show HG00099.hp1 HG01074.hp2 HG01175.hp2 HG01433.hp1 HG01934.hp1 HG01993.hp1 HG02004.hp1 HG02145.hp2 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02717.hp1 HG02735.hp2 HG03098.hp2 HG03710.hp1 NA18971.hp2 NA18986.hp1 NA19005.hp2 NA19009.hp2 NA20300.hp2 NA20805.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0015 a0001c0036 a0002c0017 a0010c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0037 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0016 a0001c0003t0001 a0001c0003t0004 a0001c0003t0036 a0001c0004t0002 a0001c0005t0003 a0001c0007t0014 a0001c0015t0002 a0001c0036t0035 a0002c0017t0003 a0010c0037t0001	a0001c0001t0001g0041 a0001c0001t0002g0220 a0001c0001t0005g0055 others(20): Show a0001c0001t0001g0041 a0001c0001t0002g0220 a0001c0001t0005g0055 a0001c0001t0037g0053 a0001c0002t0001g0050 a0001c0002t0001g0058 a0001c0002t0001g0221 a0001c0002t0001g0252 a0001c0002t0002g0056 a0001c0002t0005g0059 a0001c0002t0016g0237 a0001c0003t0001g0219 a0001c0003t0001g0222 a0001c0003t0004g0266 a0001c0003t0036g0051 a0001c0004t0002g0046 a0001c0004t0002g0052 a0001c0005t0003g0265 a0001c0007t0014g0044 a0001c0015t0002g0054 a0001c0036t0035g0045 a0002c0017t0003g0118 a0010c0037t0001g0057	23	272	0.0846	-16	c.109 others(35): Show c.109+12141_109+12156delAGGTGTGTAGGGCTGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134654868	CTAGGGCT others(9): Show CTAGGGCTGGGGGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0260 a0001c0001t0008g0260	1	272	0.0037	-16	c.109 others(35): Show c.109+12598_109+12613delGGGTGTGTAGGGCTGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134687415	TCATCCAT others(9): Show TCATCCATCCATCCATC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19030.hp1 HG03139.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0014 a0001c0001t0001 a0001c0003t0014	a0001c0001t0001g0212 a0001c0003t0014g0247 a0001c0001t0001g0212 a0001c0003t0014g0247	2	272	0.0074	-16	c.110 others(33): Show c.110-3468_110-3453delCATCCATCCATCCATC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134712622	TTCCTTCC others(9): Show TTCCTTCCTGTTCCCCC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0247 a0001c0003t0014g0247	1	272	0.0037	-16	c.654 others(35): Show c.654+11314_654+11329delGTTCCCCCTCCTTCCT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134733689	GCCTGGGC others(9): Show GCCTGGGCGGACTCACC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0187 a0001c0003t0008g0187	1	272	0.0037	-16	c.138 others(35): Show c.1389+1564_1389+1579delCTGGGCGGACTCACCC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	9/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134747913	GCACACAT others(9): Show GCACACATGCATTCATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19043.hp1 HG02109.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0065 a0001c0001 a0001c0065	a0001c0001t0004 a0001c0065t0003 a0001c0001t0004 a0001c0065t0003	a0001c0001t0004g0102 a0001c0065t0003g0009 a0001c0001t0004g0102 a0001c0065t0003g0009	2	272	0.0074	-16	c.149 others(35): Show c.1495-2608_1495-2593delCATGCATTCATACACA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	11/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134788618	GAGATAGA others(9): Show GAGATAGATGGATAGAC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp2 HG02896.hp2 others(5): Show HG01891.hp2 HG02257.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp1 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0016 others(1): Show a0001c0001 a0001c0003 a0001c0016 a0001c0025	a0001c0001t0001 a0001c0001t0012 a0001c0003t0025 others(4): Show a0001c0001t0001 a0001c0001t0012 a0001c0003t0025 a0001c0016t0001 a0001c0016t0012 a0001c0016t0046 a0001c0025t0008	a0001c0001t0001g0033 a0001c0001t0012g0242 a0001c0003t0025g0043 others(5): Show a0001c0001t0001g0033 a0001c0001t0012g0242 a0001c0003t0025g0043 a0001c0003t0025g0218 a0001c0016t0001g0022 a0001c0016t0012g0021 a0001c0016t0046g0020 a0001c0025t0008g0203	8	272	0.0294	-16	c.264 others(33): Show c.2647-482_2647-467delATGGATAGACAGATAG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	31/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134846775	TATCCATC others(9): Show TATCCATCCATTCATCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG02109.hp2 others(14): Show HG00642.hp2 HG01081.hp1 HG02109.hp2 HG02257.hp2 HG02559.hp2 HG02622.hp1 HG02723.hp2 HG02896.hp1 HG02965.hp2 HG03130.hp1 HG03225.hp1 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG04115.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(9): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0016 a0001c0032 a0001c0039 a0001c0046 a0001c0049 a0001c0060 a0001c0065	a0001c0001t0004 a0001c0003t0004 a0001c0003t0010 others(11): Show a0001c0001t0004 a0001c0003t0004 a0001c0003t0010 a0001c0004t0004 a0001c0006t0004 a0001c0006t0010 a0001c0007t0004 a0001c0016t0046 a0001c0032t0010 a0001c0039t0004 a0001c0046t0001 a0001c0049t0003 a0001c0060t0004 a0001c0065t0003	a0001c0001t0004g0102 a0001c0003t0004g0262 a0001c0003t0004g0266 others(14): Show a0001c0001t0004g0102 a0001c0003t0004g0262 a0001c0003t0004g0266 a0001c0003t0010g0039 a0001c0003t0010g0259 a0001c0004t0004g0224 a0001c0006t0004g0011 a0001c0006t0004g0184 a0001c0006t0010g0031 a0001c0007t0004g0028 a0001c0016t0046g0020 a0001c0032t0010g0238 a0001c0039t0004g0197 a0001c0046t0001g0239 a0001c0049t0003g0183 a0001c0060t0004g0240 a0001c0065t0003g0009	17	272	0.0625	-16	c.44 others(27): Show c.4473_*4488delATCCATCCATTCATCC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		1933		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134846980	CCATCTAT others(9): Show CCATCTATCCATCCATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02895.hp2 others(2): Show HG01891.hp2 HG02109.hp1 HG02895.hp2 HG02976.hp2 HG03041.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0006 a0001c0016 others(2): Show a0001c0001 a0001c0006 a0001c0016 a0001c0048 a0011c0035	a0001c0001t0012 a0001c0006t0048 a0001c0016t0012 others(2): Show a0001c0001t0012 a0001c0006t0048 a0001c0016t0012 a0001c0048t0012 a0011c0035t0012	a0001c0001t0012g0242 a0001c0006t0048g0047 a0001c0016t0012g0021 others(2): Show a0001c0001t0012g0242 a0001c0006t0048g0047 a0001c0016t0012g0021 a0001c0048t0012g0226 a0011c0035t0012g0008	5	272	0.0184	-16	c.46 others(27): Show c.4678_*4693delCATCTATCCATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		2138		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849653	CTCCCAGC others(9): Show CTCCCAGCGAGTGTGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02965.hp1 HG03041.hp2 others(1): Show HG01891.hp1 HG02965.hp1 HG03041.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0024 a0001c0044 others(1): Show a0001c0001 a0001c0024 a0001c0044 a0001c0061	a0001c0001t0001 a0001c0024t0001 a0001c0044t0057 others(1): Show a0001c0001t0001 a0001c0024t0001 a0001c0044t0057 a0001c0061t0013	a0001c0001t0001g0033 a0001c0024t0001g0207 a0001c0044t0057g0042 others(1): Show a0001c0001t0001g0033 a0001c0024t0001g0207 a0001c0044t0057g0042 a0001c0061t0013g0178	4	272	0.0147	-16	c.73 others(27): Show c.7351_*7366delTCCCAGCGAGTGTGAG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4811		chr9	TogoVar
COL5A2_chr2_189026898_189184761	189157117	GATATATC others(9): Show GATATATCTATCTATAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp2 others(121): Show HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG01069.hp2 HG01081.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01975.hp2 HG01978.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18969.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18984.hp1 NA18992.hp2 NA18998.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19070.hp1 NA19076.hp1 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20905.hp2	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0005 a0007 a0008 a0010 a0011 a0014	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0001c0010 a0001c0012 a0001c0019 a0001c0021 a0003c0014 a0004c0013 a0005c0011 a0007c0015 a0008c0029 a0010c0024 a0011c0023 a0014c0020	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(22): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0022 a0001c0001t0023 a0001c0002t0002 a0001c0002t0009 a0001c0004t0001 a0001c0004t0007 a0001c0007t0005 a0001c0008t0001 a0001c0010t0001 a0001c0010t0007 a0001c0012t0010 a0001c0019t0001 a0001c0021t0002 a0003c0014t0001 a0004c0013t0001 a0005c0011t0001 a0007c0015t0001 a0008c0029t0001 a0010c0024t0004 a0011c0023t0004 a0014c0020t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(117): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0004g0081 a0001c0001t0007g0057 a0001c0001t0013g0013 a0001c0001t0022g0086 a0001c0001t0023g0009 a0001c0002t0002g0052 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0092 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0009g0143 a0001c0004t0001g0002 a0001c0004t0001g0056 a0001c0004t0001g0160 a0001c0004t0001g0165 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0001g0212 a0001c0004t0001g0217 a0001c0004t0001g0218 a0001c0004t0001g0219 a0001c0004t0007g0216 a0001c0007t0005g0006 a0001c0007t0005g0007 a0001c0007t0005g0008 a0001c0008t0001g0213 a0001c0008t0001g0214 a0001c0008t0001g0215 a0001c0010t0001g0101 a0001c0010t0007g0075 a0001c0012t0010g0040 a0001c0012t0010g0126 a0001c0019t0001g0072 a0001c0021t0002g0142 a0003c0014t0001g0039 a0003c0014t0001g0120 a0004c0013t0001g0113 a0004c0013t0001g0114 a0005c0011t0001g0077 a0005c0011t0001g0080 a0007c0015t0001g0108 a0008c0029t0001g0235 a0010c0024t0004g0065 a0011c0023t0004g0117 a0014c0020t0001g0123	124	248	0.5000	-16	c.97+ others(33): Show c.97+22375_97+22390delATATAGATAGATATAT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	1/53			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9964854	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp2 others(46): Show HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01243.hp1 HG01261.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG02015.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02895.hp1 HG03669.hp1 HG03704.hp1 NA18612.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18957.hp2 NA18960.hp1 NA18964.hp1 NA18969.hp1 NA18969.hp2 NA18983.hp2 NA18986.hp2 NA19003.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19066.hp1 NA19067.hp2 NA19070.hp2 NA19087.hp2 NA19088.hp2	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0010 a0016 a0019 a0025 a0031 a0037 a0051 a0073 a0075	a0001c0001 a0002c0002 a0002c0020 others(20): Show a0001c0001 a0002c0002 a0002c0020 a0002c0034 a0002c0041 a0002c0083 a0002c0126 a0002c0130 a0004c0010 a0004c0013 a0004c0108 a0010c0052 a0016c0037 a0016c0074 a0016c0107 a0019c0028 a0019c0069 a0025c0031 a0031c0043 a0037c0046 a0051c0127 a0073c0096 a0075c0091	a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 others(26): Show a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0020t0001 a0002c0020t0002 a0002c0034t0002 a0002c0041t0001 a0002c0083t0005 a0002c0126t0001 a0002c0130t0001 a0004c0010t0001 a0004c0010t0004 a0004c0013t0004 a0004c0013t0019 a0004c0108t0004 a0010c0052t0001 a0016c0037t0002 a0016c0074t0002 a0016c0107t0002 a0019c0028t0001 a0019c0028t0002 a0019c0069t0002 a0025c0031t0001 a0025c0031t0004 a0031c0043t0006 a0037c0046t0003 a0051c0127t0003 a0073c0096t0002 a0075c0091t0004	a0001c0001t0004g0084 a0002c0002t0001g0313 a0002c0002t0001g0315 others(46): Show a0001c0001t0004g0084 a0002c0002t0001g0313 a0002c0002t0001g0315 a0002c0002t0002g0078 a0002c0002t0002g0218 a0002c0002t0002g0285 a0002c0002t0002g0309 a0002c0002t0002g0312 a0002c0002t0002g0316 a0002c0002t0002g0318 a0002c0002t0002g0345 a0002c0002t0002g0374 a0002c0002t0002g0408 a0002c0020t0001g0232 a0002c0020t0002g0404 a0002c0034t0002g0163 a0002c0034t0002g0258 a0002c0041t0001g0215 a0002c0083t0005g0156 a0002c0126t0001g0118 a0002c0130t0001g0314 a0004c0010t0001g0267 a0004c0010t0004g0159 a0004c0010t0004g0160 a0004c0010t0004g0162 a0004c0013t0004g0072 a0004c0013t0004g0083 a0004c0013t0004g0098 a0004c0013t0004g0099 a0004c0013t0019g0097 a0004c0108t0004g0362 a0010c0052t0001g0102 a0016c0037t0002g0249 a0016c0037t0002g0250 a0016c0037t0002g0251 a0016c0074t0002g0134 a0016c0107t0002g0235 a0019c0028t0001g0185 a0019c0028t0002g0173 a0019c0069t0002g0334 a0025c0031t0001g0296 a0025c0031t0001g0297 a0025c0031t0004g0131 a0031c0043t0006g0055 a0037c0046t0003g0027 a0037c0046t0003g0030 a0051c0127t0003g0252 a0073c0096t0002g0007 a0075c0091t0004g0014	49	412	0.1189	-16	c.478 others(35): Show c.4782+1444_4782+1459delTTTTTTTTTTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	64/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9970093	GGCTGAGT others(9): Show GGCTGAGTGGAGGCTGT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp1 HG01069.hp2 others(27): Show HG00609.hp2 HG00621.hp1 HG01069.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01952.hp1 HG03579.hp1 HG03834.hp1 HG03942.hp1 NA18747.hp1 NA18943.hp1 NA18949.hp1 NA18954.hp2 NA18963.hp1 NA18984.hp1 NA18998.hp1 NA19063.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp1 NA20300.hp2 NA20905.hp2	a0009 a0010 a0035 others(3): Show a0009 a0010 a0035 a0042 a0074 a0076	a0009c0007 a0009c0048 a0010c0015 others(8): Show a0009c0007 a0009c0048 a0010c0015 a0010c0044 a0010c0052 a0010c0119 a0010c0140 a0035c0047 a0042c0059 a0074c0094 a0076c0143	a0009c0007t0001 a0009c0007t0005 a0009c0007t0010 others(15): Show a0009c0007t0001 a0009c0007t0005 a0009c0007t0010 a0009c0007t0022 a0009c0007t0024 a0009c0048t0001 a0010c0015t0001 a0010c0015t0002 a0010c0044t0002 a0010c0044t0021 a0010c0052t0001 a0010c0052t0010 a0010c0119t0002 a0010c0140t0001 a0035c0047t0001 a0042c0059t0001 a0074c0094t0001 a0076c0143t0010	a0009c0007t0001g0220 a0009c0007t0001g0221 a0009c0007t0001g0229 others(27): Show a0009c0007t0001g0220 a0009c0007t0001g0221 a0009c0007t0001g0229 a0009c0007t0001g0231 a0009c0007t0001g0239 a0009c0007t0001g0240 a0009c0007t0001g0242 a0009c0007t0005g0230 a0009c0007t0010g0122 a0009c0007t0022g0076 a0009c0007t0024g0109 a0009c0048t0001g0234 a0009c0048t0001g0238 a0010c0015t0001g0103 a0010c0015t0001g0104 a0010c0015t0001g0254 a0010c0015t0001g0376 a0010c0015t0001g0377 a0010c0015t0002g0247 a0010c0044t0002g0268 a0010c0044t0021g0340 a0010c0052t0001g0102 a0010c0052t0010g0333 a0010c0119t0002g0397 a0010c0140t0001g0063 a0035c0047t0001g0275 a0035c0047t0001g0276 a0042c0059t0001g0187 a0074c0094t0001g0028 a0076c0143t0010g0409	30	412	0.0728	-16	c.393 others(33): Show c.3937-187_3937-172delACAGCCTCCACTCAGC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9977947	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02109.hp1 HG02486.hp2 others(11): Show HG02056.hp1 HG02109.hp1 HG02486.hp2 HG02717.hp1 HG02970.hp1 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03579.hp2 HG06807.hp1 NA18939.hp2 NA19043.hp1 NA19064.hp2	a0002 a0006 a0013 others(6): Show a0002 a0006 a0013 a0022 a0024 a0030 a0033 a0034 a0040	a0002c0002 a0002c0034 a0006c0082 others(9): Show a0002c0002 a0002c0034 a0006c0082 a0013c0008 a0022c0030 a0024c0039 a0024c0060 a0030c0080 a0030c0135 a0033c0042 a0034c0078 a0040c0068	a0002c0002t0001 a0002c0034t0002 a0006c0082t0007 others(9): Show a0002c0002t0001 a0002c0034t0002 a0006c0082t0007 a0013c0008t0001 a0022c0030t0002 a0024c0039t0014 a0024c0060t0015 a0030c0080t0015 a0030c0135t0004 a0033c0042t0001 a0034c0078t0001 a0040c0068t0003	a0002c0002t0001g0319 a0002c0034t0002g0121 a0006c0082t0007g0169 others(11): Show a0002c0002t0001g0319 a0002c0034t0002g0121 a0006c0082t0007g0169 a0013c0008t0001g0049 a0022c0030t0002g0195 a0024c0039t0014g0182 a0024c0039t0014g0192 a0024c0060t0015g0183 a0030c0080t0015g0110 a0030c0135t0004g0336 a0033c0042t0001g0115 a0033c0042t0001g0116 a0034c0078t0001g0389 a0040c0068t0003g0172	14	412	0.0340	-16	c.301 others(33): Show c.3019-262_3019-247delATATATATATATATAT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	41/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9983529	GAAGAAAG others(9): Show GAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp1 HG01192.hp1 others(26): Show HG00735.hp1 HG01081.hp1 HG01192.hp1 HG01261.hp1 HG01891.hp1 HG01952.hp2 HG02280.hp1 HG02717.hp2 HG02723.hp2 HG02970.hp1 HG03041.hp1 HG03209.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG04199.hp1 NA18939.hp2 NA18952.hp1 NA18963.hp1 NA18975.hp1 NA18979.hp1 NA19000.hp1 NA19065.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0005 a0006 others(12): Show a0001 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0014 a0017 a0026 a0030 a0033 a0040 a0050	a0001c0001 a0001c0003 a0001c0057 others(16): Show a0001c0001 a0001c0003 a0001c0057 a0005c0005 a0006c0022 a0007c0023 a0007c0051 a0008c0004 a0009c0007 a0010c0052 a0010c0119 a0011c0006 a0014c0064 a0017c0120 a0026c0086 a0030c0135 a0033c0042 a0040c0068 a0050c0115	a0001c0001t0001 a0001c0003t0001 a0001c0057t0001 others(16): Show a0001c0001t0001 a0001c0003t0001 a0001c0057t0001 a0005c0005t0010 a0006c0022t0007 a0007c0023t0003 a0007c0051t0003 a0008c0004t0001 a0009c0007t0001 a0010c0052t0001 a0010c0119t0002 a0011c0006t0003 a0014c0064t0001 a0017c0120t0002 a0026c0086t0002 a0030c0135t0004 a0033c0042t0001 a0040c0068t0003 a0050c0115t0002	a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0253 others(26): Show a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0253 a0001c0001t0001g0351 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0383 a0001c0003t0001g0216 a0001c0003t0001g0302 a0001c0057t0001g0061 a0001c0057t0001g0062 a0005c0005t0010g0261 a0006c0022t0007g0288 a0006c0022t0007g0289 a0007c0023t0003g0135 a0007c0051t0003g0082 a0008c0004t0001g0008 a0009c0007t0001g0229 a0009c0007t0001g0239 a0010c0052t0001g0102 a0010c0119t0002g0397 a0011c0006t0003g0186 a0014c0064t0001g0180 a0017c0120t0002g0400 a0026c0086t0002g0165 a0030c0135t0004g0336 a0033c0042t0001g0116 a0040c0068t0003g0172 a0050c0115t0002g0390	29	412	0.0704	-16	c.240 others(35): Show c.2407-1427_2407-1412delTCTTTCTTTCTTTCTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9994559	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0040 a0040	a0040c0068 a0040c0068	a0040c0068t0003 a0040c0068t0003	a0040c0068t0003g0172 a0040c0068t0003g0172	1	412	0.0024	-16	c.158 others(33): Show c.1588-769_1588-754delATATATATATATATAT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	16/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9999018	CTTTCTTT others(9): Show CTTTCTTTCTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02109.hp1 others(15): Show HG01884.hp2 HG01891.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02976.hp1 HG03139.hp1 HG03516.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1	a0006 a0013 a0022 others(2): Show a0006 a0013 a0022 a0034 a0066	a0006c0022 a0013c0008 a0022c0030 others(2): Show a0006c0022 a0013c0008 a0022c0030 a0034c0131 a0066c0106	a0006c0022t0007 a0006c0022t0011 a0013c0008t0001 others(3): Show a0006c0022t0007 a0006c0022t0011 a0013c0008t0001 a0022c0030t0002 a0034c0131t0001 a0066c0106t0002	a0006c0022t0007g0288 a0006c0022t0007g0289 a0006c0022t0007g0290 others(15): Show a0006c0022t0007g0288 a0006c0022t0007g0289 a0006c0022t0007g0290 a0006c0022t0007g0291 a0006c0022t0011g0117 a0013c0008t0001g0044 a0013c0008t0001g0045 a0013c0008t0001g0046 a0013c0008t0001g0047 a0013c0008t0001g0048 a0013c0008t0001g0049 a0013c0008t0001g0050 a0013c0008t0001g0051 a0013c0008t0001g0052 a0013c0008t0001g0405 a0022c0030t0002g0195 a0034c0131t0001g0292 a0066c0106t0002g0043	18	412	0.0437	-16	c.111 others(33): Show c.1111-885_1111-870delAAGAAAGAGAAAGAAA	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	8/66			chr19	TogoVar
COL6A3_chr2_237319018_237419164	237332070	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00738.hp2 HG01074.hp2 others(6): Show HG00673.hp2 HG00738.hp2 HG01074.hp2 HG01109.hp1 HG01243.hp2 HG02027.hp1 NA18747.hp2 NA18979.hp2 NA18995.hp2	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0001 a0002c0009 a0004c0003 others(1): Show a0002c0001 a0002c0009 a0004c0003 a0007c0011	a0002c0001t0001 a0002c0009t0001 a0002c0009t0003 others(2): Show a0002c0001t0001 a0002c0009t0001 a0002c0009t0003 a0004c0003t0002 a0007c0011t0001	a0002c0001t0001g0032 a0002c0001t0001g0033 a0002c0001t0001g0240 others(6): Show a0002c0001t0001g0032 a0002c0001t0001g0033 a0002c0001t0001g0240 a0002c0001t0001g0243 a0002c0009t0001g0097 a0002c0009t0001g0224 a0002c0009t0003g0069 a0004c0003t0002g0234 a0007c0011t0001g0292	9	322	0.0280	-16	c.932 others(35): Show c.9328+1364_9328+1379delATATATATATATATAT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02109.hp2 HG03098.hp1 HG02027.hp1 HG02109.hp2 HG03098.hp1	a0002 a0011 a0071 a0002 a0011 a0071	a0002c0001 a0011c0070 a0071c0138 a0002c0001 a0011c0070 a0071c0138	a0002c0001t0001 a0011c0070t0011 a0071c0138t0001 a0002c0001t0001 a0011c0070t0011 a0071c0138t0001	a0002c0001t0001g0243 a0011c0070t0011g0139 a0071c0138t0001g0166 a0002c0001t0001g0243 a0011c0070t0011g0139 a0071c0138t0001g0166	3	322	0.0093	-16	c.766 others(33): Show c.7668+820_7668+835delTTTTTTTTTTTTTTTT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237391504	CTGTTTGT others(9): Show CTGTTTGTTTGTTTGTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG02647.hp2 others(9): Show HG01884.hp2 HG02257.hp1 HG02647.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03688.hp2	a0003 a0009 a0010 others(6): Show a0003 a0009 a0010 a0013 a0040 a0041 a0059 a0060 a0069	a0003c0005 a0009c0126 a0010c0018 others(6): Show a0003c0005 a0009c0126 a0010c0018 a0013c0053 a0040c0135 a0041c0136 a0059c0055 a0060c0054 a0069c0048	a0003c0005t0007 a0009c0126t0004 a0010c0018t0003 others(7): Show a0003c0005t0007 a0009c0126t0004 a0010c0018t0003 a0010c0018t0004 a0013c0053t0004 a0040c0135t0008 a0041c0136t0001 a0059c0055t0004 a0060c0054t0004 a0069c0048t0001	a0003c0005t0007g0023 a0009c0126t0004g0179 a0010c0018t0003g0052 others(9): Show a0003c0005t0007g0023 a0009c0126t0004g0179 a0010c0018t0003g0052 a0010c0018t0003g0105 a0010c0018t0003g0106 a0010c0018t0004g0112 a0013c0053t0004g0093 a0040c0135t0008g0188 a0041c0136t0001g0165 a0059c0055t0004g0162 a0060c0054t0004g0167 a0069c0048t0001g0051	12	322	0.0373	-16	c.709 others(33): Show c.709+3067_709+3082delAACAAACAAACAAACA	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	3/43			chr2	TogoVar
COL6A5_chr3_130340672_130489846	130362314	ATATATAT others(9): Show ATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02683.hp1 HG00140.hp1 HG02683.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0002 a0004c0003t0002 a0001c0001t0002 a0004c0003t0002	a0001c0001t0002g0198 a0004c0003t0002g0197 a0001c0001t0002g0198 a0004c0003t0002g0197	2	292	0.0069	-16	c.-28 others(35): Show c.-28-11295_-28-11280delATATATATATATTTTT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130362316	ATATATAT others(9): Show ATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01106.hp1 HG01123.hp2 others(15): Show HG00280.hp1 HG01106.hp1 HG01123.hp2 HG01257.hp2 HG01515.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02698.hp2 HG03017.hp2 HG03490.hp1 HG03492.hp2 HG03704.hp1 HG06807.hp1 NA18982.hp2 NA19001.hp2 NA19002.hp2 NA19030.hp2	a0004 a0005 a0009 others(7): Show a0004 a0005 a0009 a0011 a0012 a0022 a0027 a0042 a0043 a0056	a0004c0003 a0005c0006 a0009c0009 others(7): Show a0004c0003 a0005c0006 a0009c0009 a0011c0012 a0012c0011 a0022c0024 a0027c0089 a0042c0103 a0043c0104 a0056c0095	a0004c0003t0002 a0005c0006t0007 a0009c0009t0002 others(7): Show a0004c0003t0002 a0005c0006t0007 a0009c0009t0002 a0011c0012t0002 a0012c0011t0002 a0022c0024t0002 a0027c0089t0002 a0042c0103t0002 a0043c0104t0002 a0056c0095t0007	a0004c0003t0002g0194 a0005c0006t0007g0007 a0009c0009t0002g0096 others(13): Show a0004c0003t0002g0194 a0005c0006t0007g0007 a0009c0009t0002g0096 a0009c0009t0002g0097 a0009c0009t0002g0100 a0009c0009t0002g0101 a0009c0009t0002g0281 a0009c0009t0002g0282 a0011c0012t0002g0195 a0012c0011t0002g0203 a0022c0024t0002g0003 a0022c0024t0002g0102 a0027c0089t0002g0200 a0042c0103t0002g0091 a0043c0104t0002g0092 a0056c0095t0007g0196	18	292	0.0616	-16	c.-28 others(35): Show c.-28-11293_-28-11278delATATATATATTTTTTT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A5_chr3_130340672_130489846	130362318	ATATATAT others(9): Show ATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0193 a0004c0003t0002g0193	1	292	0.0034	-16	c.-28 others(35): Show c.-28-11291_-28-11276delATATATATTTTTTTTT	COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130561634	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0019 a0019	a0019c0021 a0019c0021	a0019c0021t0003 a0019c0021t0003	a0019c0021t0003g0198 a0019c0021t0003g0198	1	264	0.0038	-16	c.64+ others(31): Show c.64+1220_64+1235delTTTTTTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590295	ATATATTT others(9): Show ATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0001 a0011c0008t0001	a0011c0008t0001g0154 a0011c0008t0001g0154	1	264	0.0038	-16	c.421 others(33): Show c.4219-744_4219-729delATATTTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590297	ATATTTTT others(9): Show ATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0001 a0011c0008t0001	a0011c0008t0001g0012 a0011c0008t0001g0012	1	264	0.0038	-16	c.421 others(33): Show c.4219-742_4219-727delATTTTTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590299	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02486.hp1 NA18947.hp1 others(1): Show HG00408.hp1 HG02486.hp1 NA18947.hp1 NA19087.hp2	a0004 a0005 a0011 others(1): Show a0004 a0005 a0011 a0025	a0004c0004 a0005c0003 a0011c0008 others(1): Show a0004c0004 a0005c0003 a0011c0008 a0025c0074	a0004c0004t0010 a0005c0003t0003 a0011c0008t0001 others(1): Show a0004c0004t0010 a0005c0003t0003 a0011c0008t0001 a0025c0074t0004	a0004c0004t0010g0250 a0005c0003t0003g0014 a0011c0008t0001g0131 others(1): Show a0004c0004t0010g0250 a0005c0003t0003g0014 a0011c0008t0001g0131 a0025c0074t0004g0215	4	264	0.0152	-16	c.421 others(33): Show c.4219-727_4219-712delTTTTTTTTTTTTTTTT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130600778	AGATGAAC others(9): Show AGATGAACAGTTGATAG	A A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0038 a0038	a0038c0065 a0038c0065	a0038c0065t0002 a0038c0065t0002	a0038c0065t0002g0203 a0038c0065t0002g0203	1	264	0.0038	-16	c.465 others(33): Show c.4653+970_4653+985delATGAACAGTTGATAGG	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	20/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130642243	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG01884.hp2 others(7): Show HG01109.hp1 HG01884.hp1 HG01884.hp2 HG02257.hp2 HG02717.hp1 HG02809.hp2 HG02896.hp1 HG03195.hp2 HG03209.hp1 NA18906.hp1	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0001 a0004c0026 a0010c0014 others(2): Show a0001c0001 a0004c0026 a0010c0014 a0010c0016 a0010c0086	a0001c0001t0001 a0001c0001t0004 a0004c0026t0001 others(5): Show a0001c0001t0001 a0001c0001t0004 a0004c0026t0001 a0004c0026t0004 a0010c0014t0001 a0010c0014t0002 a0010c0016t0004 a0010c0086t0001	a0001c0001t0001g0011 a0001c0001t0004g0207 a0004c0026t0001g0023 others(7): Show a0001c0001t0001g0011 a0001c0001t0004g0207 a0004c0026t0001g0023 a0004c0026t0004g0208 a0010c0014t0001g0017 a0010c0014t0001g0018 a0010c0014t0001g0132 a0010c0014t0002g0197 a0010c0016t0004g0209 a0010c0086t0001g0155	10	264	0.0379	-16	c.515 others(33): Show c.5154+557_5155-546delGTGTGTGTGTGTGTGT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	29/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A2_chr1_36090239_36130222	36100887	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	390	0.0026	-16	c.-16 others(31): Show c.-16-645_-16-630delAAAAAAAAAAAAAAAA	COL8A2	ENSG00000171812.13	transcript	ENST00000397799.2	protein_coding	2/3			chr1	TogoVar
COL9A1_chr6_70211126_70308084	70293631	TCACACAC others(9): Show TCACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0342 a0001c0001t0006g0342	1	362	0.0028	-16	c.696 others(31): Show c.696+520_696+535delTGTGTGTGTGTGTGTG	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	5/37			chr6	TogoVar
COL9A2_chr1_40295489_40322286	40321122	ATTATATA others(9): Show ATTATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00558.hp2 others(32): Show HG00423.hp2 HG00438.hp2 HG00558.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01123.hp1 HG01928.hp2 HG01978.hp2 HG02027.hp2 HG02273.hp1 HG02818.hp2 HG02896.hp2 HG02976.hp1 HG03130.hp1 HG03225.hp2 HG03453.hp2 HG03669.hp1 HG03927.hp1 HG04228.hp1 NA18959.hp1 NA18968.hp1 NA18973.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18993.hp1 NA18999.hp1 NA19000.hp1 NA19009.hp2 NA19065.hp1 NA19086.hp1 NA19089.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0001 a0002c0002 a0003c0005 others(2): Show a0001c0001 a0002c0002 a0003c0005 a0003c0028 a0012c0030	a0001c0001t0001 a0002c0002t0001 a0003c0005t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0005t0001 a0003c0028t0001 a0012c0030t0001	a0001c0001t0001g0003 a0001c0001t0001g0078 a0001c0001t0001g0079 others(19): Show a0001c0001t0001g0003 a0001c0001t0001g0078 a0001c0001t0001g0079 a0002c0002t0001g0047 a0002c0002t0001g0102 a0002c0002t0001g0106 a0002c0002t0001g0112 a0003c0005t0001g0004 a0003c0005t0001g0045 a0003c0005t0001g0046 a0003c0005t0001g0075 a0003c0005t0001g0076 a0003c0005t0001g0100 a0003c0005t0001g0101 a0003c0005t0001g0103 a0003c0005t0001g0105 a0003c0005t0001g0108 a0003c0005t0001g0109 a0003c0005t0001g0110 a0003c0005t0001g0113 a0003c0028t0001g0104 a0012c0030t0001g0111	35	438	0.0799	-16	c.-39 others(27): Show c.-3941_-3926delATATATATATATATAA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		3837		chr1	TogoVar
COL9A3_chr20_62812050_62846159	62823819	CCCTGCAG others(9): Show CCCTGCAGTGCCGGCCG	C C	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0288 a0001c0003t0001g0288	1	412	0.0024	-16	c.520 others(31): Show c.520-625_520-610delCCTGCAGTGCCGGCCG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	10/31			chr20	TogoVar
COLEC10_chr8_119062247_119113455	119069629	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0077 a0001c0002t0004g0077	1	388	0.0026	-16	c.148 others(33): Show c.148+2217_148+2232delATATATATATATATAT	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119078990	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19240.hp1 HG02258.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0007 a0001c0006t0001 a0001c0001t0007 a0001c0006t0001	a0001c0001t0007g0063 a0001c0006t0001g0070 a0001c0001t0007g0063 a0001c0006t0001g0070	2	388	0.0052	-16	c.149 others(35): Show c.149-10651_149-10636delACACACACACACACAC	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119091591	GAGAGAGA others(9): Show GAGAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02451.hp2 HG02615.hp1 others(5): Show HG00140.hp1 HG02451.hp2 HG02615.hp1 HG03041.hp1 HG03098.hp2 HG03209.hp1 HG03579.hp2 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0004 a0001c0007t0003 a0001c0003t0004 a0001c0007t0003	a0001c0003t0004g0159 a0001c0003t0004g0206 a0001c0003t0004g0214 others(5): Show a0001c0003t0004g0159 a0001c0003t0004g0206 a0001c0003t0004g0214 a0001c0003t0004g0215 a0001c0003t0004g0220 a0001c0003t0004g0226 a0001c0003t0004g0227 a0001c0007t0003g0200	8	388	0.0206	-16	c.292 others(31): Show c.292+375_292+390delGAGAAAGAAAGAAAGA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119091595	GAGAAAGA others(9): Show GAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02040.hp1 HG02145.hp2 others(8): Show HG01074.hp2 HG02040.hp1 HG02145.hp2 HG02698.hp2 HG02738.hp2 HG03654.hp2 HG04115.hp1 NA18747.hp1 NA19010.hp1 NA19060.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0287 others(8): Show a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0287 a0001c0001t0001g0317 a0001c0001t0001g0354 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0006g0157 a0001c0001t0006g0173 a0001c0001t0006g0176 a0001c0001t0006g0183	11	388	0.0284	-16	c.292 others(31): Show c.292+401_292+416delGAAAGAAAGAAAGAAA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC12_chr18_311737_505701	315232	TCACACAC others(9): Show TCACACACACACACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0055 a0004c0006t0055	a0004c0006t0055g0320 a0004c0006t0055g0320	1	366	0.0027	-16	c.47 others(27): Show c.4797_*4812delTGTGTGTGTGTGTGTG	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		1504		chr18	TogoVar
COLEC12_chr18_311737_505701	355047	GCATCCAT others(9): Show GCATCCATCCATCCATC	G G	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0290 a0002c0001t0001g0290	1	366	0.0027	-16	c.181 others(33): Show c.181+2337_181+2352delGATGGATGGATGGATG	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	3/9			chr18	TogoVar
COLEC12_chr18_311737_505701	442000	TCTACACA others(9): Show TCTACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp1 HG02630.hp1 others(2): Show HG01106.hp1 HG01884.hp1 HG02630.hp1 HG02886.hp2 HG06807.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0004 a0003c0002 a0003c0013 others(1): Show a0001c0004 a0003c0002 a0003c0013 a0011c0025	a0001c0004t0097 a0003c0002t0126 a0003c0002t0204 others(2): Show a0001c0004t0097 a0003c0002t0126 a0003c0002t0204 a0003c0013t0190 a0011c0025t0228	a0001c0004t0097g0080 a0003c0002t0126g0217 a0003c0002t0204g0007 others(2): Show a0001c0004t0097g0080 a0003c0002t0126g0217 a0003c0002t0204g0007 a0003c0013t0190g0330 a0011c0025t0228g0258	5	366	0.0137	-16	c.58+ others(33): Show c.58+38691_58+38706delGTGTGTGTGTGTGTAG	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLEC12_chr18_311737_505701	442114	CCGATGTT others(9): Show CCGATGTTGTATTCCTT	C C	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0157 a0001c0004t0157	a0001c0004t0157g0212 a0001c0004t0157g0212	1	366	0.0027	-16	c.58+ others(33): Show c.58+38577_58+38592delAAGGAATACAACATCG	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
COLGALT1_chr19_17550649_17588157	17552913	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(129): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18943.hp1 NA18946.hp2 NA18949.hp2 NA18954.hp1 NA18959.hp1 NA18961.hp2 NA18964.hp2 NA18971.hp2 NA18975.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18985.hp2 NA18994.hp2 NA18997.hp2 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19066.hp2 NA19070.hp2 NA19082.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0002c0010 a0003c0016 a0008c0017	a0001c0001t0008 a0001c0001t0042 a0001c0001t0043 others(27): Show a0001c0001t0008 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0009 a0001c0002t0010 a0001c0002t0013 a0001c0002t0017 a0001c0002t0021 a0001c0002t0027 a0001c0002t0031 a0001c0002t0032 a0001c0002t0047 a0001c0002t0048 a0001c0002t0050 a0001c0002t0054 a0001c0002t0055 a0001c0002t0056 a0001c0002t0057 a0001c0002t0058 a0001c0009t0003 a0001c0009t0021 a0002c0010t0002 a0002c0010t0021 a0003c0016t0013 a0008c0017t0002	a0001c0001t0008g0020 a0001c0001t0008g0037 a0001c0001t0008g0038 others(96): Show a0001c0001t0008g0020 a0001c0001t0008g0037 a0001c0001t0008g0038 a0001c0001t0008g0215 a0001c0001t0008g0216 a0001c0001t0008g0217 a0001c0001t0008g0218 a0001c0001t0008g0219 a0001c0001t0042g0038 a0001c0001t0043g0037 a0001c0001t0046g0220 a0001c0002t0001g0240 a0001c0002t0002g0002 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0022 a0001c0002t0002g0026 a0001c0002t0002g0048 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0070 a0001c0002t0002g0213 a0001c0002t0002g0222 a0001c0002t0003g0004 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0042 a0001c0002t0003g0228 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0233 a0001c0002t0003g0236 a0001c0002t0003g0239 a0001c0002t0003g0241 a0001c0002t0003g0243 a0001c0002t0003g0244 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0248 a0001c0002t0003g0249 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0256 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0005g0067 a0001c0002t0009g0040 a0001c0002t0009g0252 a0001c0002t0009g0257 a0001c0002t0009g0258 a0001c0002t0009g0259 a0001c0002t0010g0008 a0001c0002t0010g0012 a0001c0002t0010g0059 a0001c0002t0010g0064 a0001c0002t0013g0041 a0001c0002t0013g0043 a0001c0002t0013g0237 a0001c0002t0013g0253 a0001c0002t0017g0002 a0001c0002t0017g0009 a0001c0002t0017g0022 a0001c0002t0017g0068 a0001c0002t0021g0234 a0001c0002t0027g0227 a0001c0002t0027g0229 a0001c0002t0031g0232 a0001c0002t0031g0242 a0001c0002t0032g0021 a0001c0002t0047g0238 a0001c0002t0048g0251 a0001c0002t0050g0041 a0001c0002t0054g0226 a0001c0002t0055g0055 a0001c0002t0056g0002 a0001c0002t0057g0002 a0001c0002t0058g0069 a0001c0009t0003g0004 a0001c0009t0021g0004 a0002c0010t0002g0071 a0002c0010t0021g0235 a0003c0016t0013g0250 a0008c0017t0002g0002	132	396	0.3333	-16	c.-28 others(27): Show c.-2800_-2785delAAATAAATAAATAAAT	COLGALT1	ENSG00000130309.12	transcript	ENST00000252599.9	protein_coding		2735		chr19	TogoVar
COLGALT2_chr1_183930834_184042728	184003481	CAGTCATG others(9): Show CAGTCATGGGAGTGATG	C C	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0123 a0001c0002t0002g0123	1	340	0.0029	-16	c.264 others(35): Show c.264-24977_264-24962delCATCACTCCCATGACT	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	1/11			chr1	TogoVar
COLGALT2_chr1_183930834_184042728	184031817	ATCCTTCC others(9): Show ATCCTTCCTTCCTTCCT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03486.hp2 HG01891.hp2 HG03486.hp2	a0004 a0004	a0004c0021 a0004c0022 a0004c0021 a0004c0022	a0004c0021t0045 a0004c0022t0044 a0004c0021t0045 a0004c0022t0044	a0004c0021t0045g0334 a0004c0022t0044g0335 a0004c0021t0045g0334 a0004c0022t0044g0335	2	340	0.0059	-16	c.263 others(33): Show c.263+5262_263+5277delAGGAAGGAAGGAAGGA	COLGALT2	ENSG00000198756.12	transcript	ENST00000361927.9	protein_coding	1/11			chr1	TogoVar
COLQ_chr3_15445133_15526706	15465232	TTTGATTT others(9): Show TTTGATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0296	1	382	0.0026	-16	c.814 others(33): Show c.814+1093_814+1108delTAAATAAATAAATCAA	COLQ	ENSG00000206561.14	transcript	ENST00000383788.10	protein_coding	12/16			chr3	TogoVar
COMMD10_chr5_116080025_116298287	116131405	GTGTATGT others(9): Show GTGTATGTATGTATGTA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0071 a0001c0002t0003g0071	1	350	0.0029	-16	c.400 others(33): Show c.400-2651_400-2636delATGTATGTATGTATGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116215695	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00438.hp1 others(93): Show HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp2 HG02015.hp2 HG02055.hp2 HG02083.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18967.hp1 NA18968.hp1 NA18981.hp1 NA18982.hp1 NA18986.hp2 NA18989.hp2 NA18991.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19009.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19064.hp1 NA19077.hp1 NA19080.hp2 NA19082.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0001c0001t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0068 a0001c0001t0001g0072 others(90): Show a0001c0001t0001g0003 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0291 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0333 a0001c0001t0002g0292 a0001c0001t0002g0294 a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0014 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0043 a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066	96	350	0.2743	-16	c.511 others(35): Show c.511-75801_511-75786delATATATATATATATAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD1_chr2_61900674_62141058	61913592	AGCTCTAC others(9): Show AGCTCTACTAAAAATTG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01243.hp2 others(3): Show HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01928.hp2 HG01978.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(3): Show a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113	6	286	0.0210	-16	c.180 others(33): Show c.180+7765_180+7780delTGGCTCTACTAAAAAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	61996314	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18966.hp1 NA18975.hp2 others(3): Show HG00423.hp1 NA18966.hp1 NA18975.hp2 NA18998.hp1 NA19060.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0059 a0001c0001t0001g0061 others(3): Show a0001c0001t0001g0028 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0285	6	286	0.0210	-16	c.181 others(33): Show c.181-4359_181-4344delGTGTGTGTGTGTGTGT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62002491	GAAAAAAA others(9): Show GAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03579.hp1 HG03579.hp2 others(2): Show HG02055.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0220 a0001c0001t0001g0221	5	286	0.0175	-16	c.462 others(33): Show c.462+1527_462+1542delAAAAAAAAAAAAAAAA	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar

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