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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
COL2A1_chr12_47967967_48009476	47987262	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG03704.hp1 HG03942.hp1 others(1): Show HG00323.hp1 HG03704.hp1 HG03942.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0164 a0001c0002t0001g0174 a0001c0002t0001g0039 a0001c0002t0001g0164 a0001c0002t0001g0174	4	414	0.0097	0	c.126 others(6): Show c.1266+7G>A		COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding	20/53					chr12	TogoVar
COL2A1_chr12_47967967_48009476	47989761	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0001 a0001c0039t0001	a0001c0039t0001g0197 a0001c0039t0001g0197	1	414	0.0024	0	c.106 others(4): Show c.1068G>A	p.Pro others(6): Show p.Pro356Pro	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding	17/54	1223/5059	1068/4464	356/1487		chr12	TogoVar
COL2A1_chr12_47967967_48009476	47992938	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0108 a0002c0001t0002g0108	1	414	0.0024	0	c.970 others(5): Show c.970-7G>A		COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding	15/53					chr12	TogoVar
COL2A1_chr12_47967967_48009476	47995702	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp2 HG02970.hp2 HG03041.hp1 HG02622.hp2 HG02970.hp2 HG03041.hp1	a0001 a0001	a0001c0008 a0001c0051 a0001c0008 a0001c0051	a0001c0008t0001 a0001c0051t0001 a0001c0008t0001 a0001c0051t0001	a0001c0008t0001g0204 a0001c0008t0001g0222 a0001c0051t0001g0205 a0001c0008t0001g0204 a0001c0008t0001g0222 a0001c0051t0001g0205	3	414	0.0073	0	c.708 others(5): Show c.708+8C>T		COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding	10/53					chr12	TogoVar
COL2A1_chr12_47967967_48009476	47995926	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG03516.hp2 HG03540.hp1 others(2): Show HG00280.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0027 a0002c0001 a0001c0003 a0001c0027 a0002c0001	a0001c0003t0007 a0001c0027t0001 a0002c0001t0001 a0001c0003t0007 a0001c0027t0001 a0002c0001t0001	a0001c0003t0007g0021 a0001c0027t0001g0185 a0002c0001t0001g0121 a0001c0003t0007g0021 a0001c0027t0001g0185 a0002c0001t0001g0121	5	414	0.0121	0	c.610 others(5): Show c.610-7G>A		COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding	8/53					chr12	TogoVar
COL2A1_chr12_47967967_48009476	47998199	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18987.hp1 NA19070.hp1 NA18987.hp1 NA19070.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0002 a0002c0025t0002	a0002c0025t0002g0031 a0002c0025t0002g0031	2	414	0.0048	0	c.312 others(3): Show c.312A>G	p.Gly others(6): Show p.Gly104Gly	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding	4/54	467/5059	312/4464	104/1487		chr12	TogoVar
COL3A1_chr2_188969373_189017746	188987143	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0108 a0001c0003t0004g0108	1	376	0.0027	0	c.528 others(5): Show c.528+4C>T		COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	5/50					chr2	TogoVar
COL3A1_chr2_188969373_189017746	188988582	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG03516.hp2 HG02145.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0112 a0001c0001t0010g0111 a0001c0001t0001g0112 a0001c0001t0010g0111	2	376	0.0053	0	c.583 others(5): Show c.583-8C>T		COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	6/50					chr2	TogoVar
COL3A1_chr2_188969373_189017746	188991664	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0251 a0002c0002t0001g0251	1	376	0.0027	0	c.898 others(5): Show c.898-5T>C		COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	12/50					chr2	TogoVar
COL3A1_chr2_188969373_189017746	188994708	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp1 HG01074.hp1 HG01109.hp2 others(34): Show HG00741.hp1 HG01074.hp1 HG01109.hp2 HG01123.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01517.hp2 HG02132.hp2 HG02135.hp2 HG02300.hp2 HG02523.hp1 HG03490.hp2 HG03654.hp1 HG03942.hp2 NA18612.hp2 NA18941.hp2 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18962.hp1 NA18963.hp2 NA18970.hp1 NA18972.hp2 NA18977.hp1 NA18989.hp2 NA18991.hp1 NA18994.hp1 NA19002.hp1 NA19077.hp2 NA19090.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 a0002c0002t0001 a0003c0005t0002	a0001c0001t0001g0224 a0001c0004t0001g0014 a0001c0004t0001g0076 others(29): Show a0001c0001t0001g0224 a0001c0004t0001g0014 a0001c0004t0001g0076 a0001c0004t0001g0077 a0001c0004t0001g0078 a0001c0004t0001g0133 a0001c0004t0001g0134 a0001c0004t0001g0146 a0001c0004t0001g0225 a0001c0004t0001g0226 a0001c0004t0001g0227 a0001c0004t0001g0228 a0001c0004t0001g0230 a0001c0004t0002g0025 a0001c0004t0002g0145 a0001c0004t0002g0147 a0001c0004t0002g0148 a0001c0004t0002g0229 a0002c0002t0001g0313 a0003c0005t0002g0005 a0003c0005t0002g0015 a0003c0005t0002g0057 a0003c0005t0002g0058 a0003c0005t0002g0059 a0003c0005t0002g0060 a0003c0005t0002g0061 a0003c0005t0002g0062 a0003c0005t0002g0063 a0003c0005t0002g0142 a0003c0005t0002g0143 a0003c0005t0002g0144 a0003c0005t0002g0214	37	376	0.0984	-1	c.134 others(7): Show c.1348-4delT		COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	19/50				INFO_REALIGN_3_PRIME	chr2	TogoVar
COL3A1_chr2_188969373_189017746	188997223	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp2 NA19057.hp2 NA19077.hp1 HG00438.hp2 NA19057.hp2 NA19077.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0006c0010t0001 a0001c0001t0001 a0006c0010t0001	a0001c0001t0001g0315 a0006c0010t0001g0314 a0006c0010t0001g0316 a0001c0001t0001g0315 a0006c0010t0001g0314 a0006c0010t0001g0316	3	376	0.0080	0	c.181 others(6): Show c.1815+5G>A		COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	25/50					chr2	TogoVar
COL3A1_chr2_188969373_189017746	189010893	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0227 a0001c0004t0001g0227	1	376	0.0027	0	c.425 others(6): Show c.4254+3A>G		COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	50/50					chr2	TogoVar
COL4A1_chr13_110143963_110312157	110161185	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp1 HG00544.hp2 HG00558.hp1 others(79): Show HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01256.hp2 HG01516.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02129.hp1 HG02165.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02630.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG03017.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03942.hp1 NA18612.hp2 NA18906.hp1 NA18944.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18978.hp1 NA18992.hp1 NA18992.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19091.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0011	a0001c0001 a0001c0003 a0001c0006 others(24): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0020 a0001c0032 a0001c0052 a0001c0062 a0001c0064 a0001c0079 a0002c0002 a0002c0004 a0002c0011 a0002c0018 a0002c0024 a0002c0097 a0002c0106 a0002c0112 a0003c0089 a0004c0017 a0004c0021 a0004c0035 a0004c0067 a0004c0070 a0005c0034 a0011c0087	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(31): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 a0001c0007t0005 a0001c0010t0001 a0001c0020t0001 a0001c0020t0005 a0001c0032t0001 a0001c0052t0001 a0001c0062t0001 a0001c0064t0001 a0001c0079t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0012 a0002c0004t0001 a0002c0011t0001 a0002c0011t0014 a0002c0018t0001 a0002c0024t0002 a0002c0024t0010 a0002c0097t0006 a0002c0106t0001 a0002c0112t0002 a0003c0089t0003 a0004c0017t0005 a0004c0021t0001 a0004c0035t0001 a0004c0067t0001 a0004c0070t0001 a0005c0034t0001 a0011c0087t0011	a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0032 others(78): Show a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0142 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0005g0020 a0001c0001t0005g0041 a0001c0003t0001g0014 a0001c0003t0001g0088 a0001c0003t0001g0118 a0001c0003t0001g0162 a0001c0006t0001g0104 a0001c0006t0001g0138 a0001c0006t0001g0143 a0001c0006t0001g0147 a0001c0007t0001g0021 a0001c0007t0001g0145 a0001c0007t0001g0153 a0001c0007t0001g0167 a0001c0007t0005g0152 a0001c0010t0001g0058 a0001c0020t0001g0117 a0001c0020t0005g0123 a0001c0032t0001g0108 a0001c0052t0001g0149 a0001c0062t0001g0017 a0001c0064t0001g0024 a0001c0079t0001g0121 a0002c0002t0001g0200 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0248 a0002c0002t0002g0265 a0002c0002t0002g0269 a0002c0002t0002g0272 a0002c0002t0002g0275 a0002c0002t0002g0288 a0002c0002t0002g0299 a0002c0002t0002g0301 a0002c0002t0002g0304 a0002c0002t0002g0320 a0002c0002t0002g0329 a0002c0002t0012g0293 a0002c0004t0001g0214 a0002c0004t0001g0260 a0002c0011t0001g0184 a0002c0011t0014g0335 a0002c0018t0001g0171 a0002c0018t0001g0234 a0002c0024t0002g0276 a0002c0024t0002g0281 a0002c0024t0010g0336 a0002c0097t0006g0294 a0002c0106t0001g0242 a0002c0112t0002g0273 a0003c0089t0003g0253 a0004c0017t0005g0073 a0004c0021t0001g0035 a0004c0035t0001g0103 a0004c0067t0001g0007 a0004c0070t0001g0036 a0005c0034t0001g0146 a0005c0034t0001g0165 a0011c0087t0011g0289	82	344	0.2384	0	c.464 others(6): Show c.4640+7C>T		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	49/51					chr13	TogoVar
COL4A1_chr13_110143963_110312157	110167238	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0216 a0002c0011t0001g0216	1	344	0.0029	0	c.387 others(6): Show c.3877-8G>A		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	43/51					chr13	TogoVar
COL4A1_chr13_110143963_110312157	110201433	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp1 HG02723.hp2 HG02970.hp1 others(6): Show HG01081.hp1 HG02723.hp2 HG02970.hp1 HG03139.hp1 NA18522.hp2 NA19043.hp1 NA19079.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0006 a0001c0065 a0002c0015 others(4): Show a0001c0006 a0001c0065 a0002c0015 a0003c0038 a0003c0045 a0004c0035 a0007c0063	a0001c0006t0001 a0001c0065t0001 a0002c0015t0001 others(4): Show a0001c0006t0001 a0001c0065t0001 a0002c0015t0001 a0003c0038t0001 a0003c0045t0001 a0004c0035t0001 a0007c0063t0003	a0001c0006t0001g0008 a0001c0065t0001g0023 a0002c0015t0001g0199 others(6): Show a0001c0006t0001g0008 a0001c0065t0001g0023 a0002c0015t0001g0199 a0002c0015t0001g0241 a0003c0038t0001g0196 a0003c0038t0001g0228 a0003c0045t0001g0198 a0004c0035t0001g0103 a0007c0063t0003g0106	9	344	0.0262	0	c.108 others(6): Show c.1084+5C>G		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	19/51					chr13	TogoVar
COL4A1_chr13_110143963_110312157	110206722	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(117): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01891.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18981.hp2 NA18992.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19079.hp2 NA19085.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0009 a0010	a0001c0003 a0001c0006 a0001c0007 others(55): Show a0001c0003 a0001c0006 a0001c0007 a0001c0013 a0001c0020 a0001c0036 a0001c0037 a0001c0064 a0001c0065 a0001c0066 a0001c0069 a0001c0072 a0001c0073 a0001c0076 a0002c0004 a0002c0015 a0002c0018 a0002c0023 a0002c0024 a0002c0028 a0002c0029 a0002c0030 a0002c0031 a0002c0044 a0002c0048 a0002c0092 a0002c0093 a0002c0096 a0002c0097 a0002c0100 a0002c0102 a0002c0104 a0002c0108 a0003c0008 a0003c0012 a0003c0027 a0003c0038 a0003c0045 a0003c0046 a0003c0049 a0003c0094 a0003c0098 a0003c0099 a0003c0101 a0003c0103 a0003c0111 a0004c0021 a0004c0022 a0004c0035 a0004c0067 a0004c0068 a0004c0070 a0004c0071 a0004c0074 a0004c0078 a0007c0063 a0009c0113 a0010c0095	a0001c0003t0001 a0001c0006t0001 a0001c0006t0003 others(71): Show a0001c0003t0001 a0001c0006t0001 a0001c0006t0003 a0001c0007t0001 a0001c0007t0005 a0001c0013t0001 a0001c0020t0001 a0001c0020t0005 a0001c0036t0003 a0001c0037t0001 a0001c0064t0001 a0001c0065t0001 a0001c0066t0001 a0001c0069t0001 a0001c0072t0001 a0001c0073t0005 a0001c0076t0003 a0002c0004t0001 a0002c0004t0007 a0002c0015t0001 a0002c0015t0002 a0002c0015t0004 a0002c0015t0013 a0002c0018t0001 a0002c0023t0002 a0002c0023t0003 a0002c0024t0002 a0002c0024t0010 a0002c0028t0003 a0002c0028t0004 a0002c0029t0003 a0002c0030t0003 a0002c0030t0008 a0002c0031t0002 a0002c0044t0001 a0002c0044t0002 a0002c0048t0001 a0002c0092t0002 a0002c0093t0003 a0002c0096t0001 a0002c0097t0006 a0002c0100t0001 a0002c0102t0001 a0002c0104t0001 a0002c0108t0001 a0003c0008t0003 a0003c0012t0001 a0003c0012t0002 a0003c0027t0001 a0003c0027t0002 a0003c0038t0001 a0003c0045t0001 a0003c0045t0002 a0003c0046t0001 a0003c0046t0002 a0003c0049t0001 a0003c0094t0002 a0003c0098t0003 a0003c0099t0003 a0003c0101t0001 a0003c0103t0001 a0003c0111t0001 a0004c0021t0001 a0004c0022t0001 a0004c0035t0001 a0004c0067t0001 a0004c0068t0001 a0004c0070t0001 a0004c0071t0001 a0004c0074t0001 a0004c0078t0001 a0007c0063t0003 a0009c0113t0003 a0010c0095t0002	a0001c0003t0001g0094 a0001c0003t0001g0095 a0001c0003t0001g0118 others(116): Show a0001c0003t0001g0094 a0001c0003t0001g0095 a0001c0003t0001g0118 a0001c0006t0001g0008 a0001c0006t0001g0025 a0001c0006t0001g0057 a0001c0006t0001g0087 a0001c0006t0001g0104 a0001c0006t0001g0138 a0001c0006t0001g0143 a0001c0006t0001g0147 a0001c0006t0001g0163 a0001c0006t0003g0076 a0001c0007t0001g0021 a0001c0007t0001g0034 a0001c0007t0001g0046 a0001c0007t0001g0070 a0001c0007t0001g0124 a0001c0007t0001g0145 a0001c0007t0001g0153 a0001c0007t0001g0167 a0001c0007t0005g0152 a0001c0013t0001g0002 a0001c0013t0001g0022 a0001c0013t0001g0030 a0001c0013t0001g0050 a0001c0013t0001g0122 a0001c0020t0001g0090 a0001c0020t0001g0112 a0001c0020t0001g0117 a0001c0020t0005g0123 a0001c0036t0003g0061 a0001c0036t0003g0135 a0001c0037t0001g0166 a0001c0064t0001g0024 a0001c0065t0001g0023 a0001c0066t0001g0151 a0001c0069t0001g0160 a0001c0072t0001g0141 a0001c0073t0005g0060 a0001c0076t0003g0078 a0002c0004t0001g0252 a0002c0004t0001g0260 a0002c0004t0007g0174 a0002c0015t0001g0199 a0002c0015t0001g0231 a0002c0015t0001g0241 a0002c0015t0002g0317 a0002c0015t0004g0268 a0002c0015t0013g0312 a0002c0018t0001g0171 a0002c0023t0002g0290 a0002c0023t0002g0291 a0002c0023t0003g0239 a0002c0024t0002g0276 a0002c0024t0002g0281 a0002c0024t0002g0282 a0002c0024t0010g0336 a0002c0028t0003g0264 a0002c0028t0004g0330 a0002c0028t0004g0340 a0002c0029t0003g0215 a0002c0029t0003g0230 a0002c0029t0003g0258 a0002c0030t0003g0188 a0002c0030t0003g0255 a0002c0030t0008g0189 a0002c0031t0002g0308 a0002c0044t0001g0209 a0002c0044t0002g0321 a0002c0048t0001g0186 a0002c0048t0001g0187 a0002c0092t0002g0341 a0002c0093t0003g0217 a0002c0096t0001g0259 a0002c0097t0006g0294 a0002c0100t0001g0177 a0002c0102t0001g0172 a0002c0104t0001g0178 a0002c0108t0001g0251 a0003c0008t0003g0233 a0003c0012t0001g0179 a0003c0012t0001g0180 a0003c0012t0001g0202 a0003c0012t0002g0279 a0003c0012t0002g0307 a0003c0012t0002g0316 a0003c0012t0002g0318 a0003c0027t0001g0261 a0003c0027t0002g0326 a0003c0027t0002g0327 a0003c0038t0001g0196 a0003c0038t0001g0228 a0003c0045t0001g0198 a0003c0045t0002g0305 a0003c0046t0001g0222 a0003c0046t0002g0292 a0003c0049t0001g0262 a0003c0094t0002g0311 a0003c0098t0003g0206 a0003c0099t0003g0232 a0003c0101t0001g0227 a0003c0103t0001g0240 a0003c0111t0001g0218 a0004c0021t0001g0035 a0004c0021t0001g0063 a0004c0022t0001g0012 a0004c0022t0001g0100 a0004c0035t0001g0067 a0004c0035t0001g0103 a0004c0067t0001g0007 a0004c0068t0001g0136 a0004c0070t0001g0036 a0004c0071t0001g0084 a0004c0074t0001g0009 a0004c0078t0001g0068 a0007c0063t0003g0106 a0009c0113t0003g0263 a0010c0095t0002g0283	120	344	0.3488	0	c.808 others(5): Show c.808-7C>G		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	14/51					chr13	TogoVar
COL4A1_chr13_110143963_110312157	110206722	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG02451.hp1 HG02615.hp1 others(1): Show HG01891.hp1 HG02451.hp1 HG02615.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0037 a0002c0004 a0002c0031 a0001c0037 a0002c0004 a0002c0031	a0001c0037t0001 a0002c0004t0001 a0002c0031t0001 a0001c0037t0001 a0002c0004t0001 a0002c0031t0001	a0001c0037t0001g0134 a0002c0004t0001g0226 a0002c0031t0001g0194 others(1): Show a0001c0037t0001g0134 a0002c0004t0001g0226 a0002c0031t0001g0194 a0002c0031t0001g0254	4	344	0.0116	0	c.808 others(5): Show c.808-7C>A		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	14/51					chr13	TogoVar
COL4A1_chr13_110143963_110312157	110207396	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(205): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0011	a0001c0001 a0001c0003 a0001c0007 others(59): Show a0001c0001 a0001c0003 a0001c0007 a0001c0010 a0001c0016 a0001c0019 a0001c0032 a0001c0033 a0001c0050 a0001c0051 a0001c0052 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0001c0059 a0001c0062 a0001c0075 a0001c0079 a0002c0002 a0002c0004 a0002c0011 a0002c0018 a0002c0023 a0002c0026 a0002c0039 a0002c0040 a0002c0043 a0002c0047 a0002c0082 a0002c0083 a0002c0085 a0002c0088 a0002c0091 a0002c0106 a0002c0112 a0003c0008 a0003c0009 a0003c0014 a0003c0041 a0003c0049 a0003c0080 a0003c0081 a0003c0084 a0003c0086 a0003c0089 a0003c0090 a0003c0105 a0003c0107 a0004c0005 a0004c0017 a0004c0021 a0004c0022 a0004c0025 a0004c0053 a0004c0060 a0004c0061 a0004c0077 a0005c0034 a0006c0042 a0008c0054 a0011c0087	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(71): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0007t0001 a0001c0010t0001 a0001c0016t0003 a0001c0019t0001 a0001c0032t0001 a0001c0033t0001 a0001c0050t0001 a0001c0051t0001 a0001c0052t0001 a0001c0055t0001 a0001c0056t0003 a0001c0057t0001 a0001c0058t0001 a0001c0059t0001 a0001c0062t0001 a0001c0075t0003 a0001c0079t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0012 a0002c0002t0015 a0002c0004t0001 a0002c0004t0002 a0002c0011t0001 a0002c0011t0002 a0002c0011t0014 a0002c0018t0001 a0002c0023t0006 a0002c0026t0004 a0002c0039t0002 a0002c0040t0002 a0002c0043t0001 a0002c0047t0002 a0002c0082t0002 a0002c0083t0001 a0002c0085t0001 a0002c0088t0003 a0002c0091t0001 a0002c0106t0001 a0002c0112t0002 a0003c0008t0001 a0003c0008t0002 a0003c0009t0001 a0003c0009t0002 a0003c0014t0001 a0003c0014t0002 a0003c0041t0002 a0003c0049t0001 a0003c0080t0001 a0003c0081t0009 a0003c0084t0002 a0003c0086t0001 a0003c0089t0003 a0003c0090t0004 a0003c0105t0001 a0003c0107t0001 a0004c0005t0001 a0004c0017t0001 a0004c0017t0005 a0004c0021t0001 a0004c0022t0001 a0004c0025t0001 a0004c0053t0001 a0004c0060t0001 a0004c0061t0003 a0004c0077t0001 a0005c0034t0001 a0006c0042t0002 a0008c0054t0001 a0011c0087t0011	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0013 others(204): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0005g0020 a0001c0001t0005g0041 a0001c0003t0001g0014 a0001c0003t0001g0054 a0001c0003t0001g0059 a0001c0003t0001g0074 a0001c0003t0001g0085 a0001c0003t0001g0092 a0001c0003t0001g0105 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0154 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0007t0001g0065 a0001c0010t0001g0049 a0001c0010t0001g0052 a0001c0010t0001g0058 a0001c0010t0001g0086 a0001c0010t0001g0113 a0001c0010t0001g0127 a0001c0010t0001g0150 a0001c0016t0003g0006 a0001c0016t0003g0029 a0001c0016t0003g0109 a0001c0016t0003g0110 a0001c0016t0003g0111 a0001c0019t0001g0005 a0001c0019t0001g0027 a0001c0019t0001g0066 a0001c0019t0001g0168 a0001c0032t0001g0083 a0001c0032t0001g0108 a0001c0033t0001g0098 a0001c0033t0001g0099 a0001c0050t0001g0038 a0001c0051t0001g0114 a0001c0052t0001g0149 a0001c0055t0001g0064 a0001c0056t0003g0126 a0001c0057t0001g0051 a0001c0058t0001g0102 a0001c0059t0001g0091 a0001c0062t0001g0017 a0001c0075t0003g0079 a0001c0079t0001g0121 a0002c0002t0001g0175 a0002c0002t0001g0185 a0002c0002t0001g0200 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0002g0265 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0272 a0002c0002t0002g0275 a0002c0002t0002g0288 a0002c0002t0002g0295 a0002c0002t0002g0297 a0002c0002t0002g0299 a0002c0002t0002g0301 a0002c0002t0002g0304 a0002c0002t0002g0320 a0002c0002t0002g0329 a0002c0002t0002g0331 a0002c0002t0003g0195 a0002c0002t0012g0293 a0002c0002t0015g0322 a0002c0004t0001g0214 a0002c0004t0001g0236 a0002c0004t0001g0250 a0002c0004t0002g0287 a0002c0004t0002g0314 a0002c0004t0002g0323 a0002c0011t0001g0184 a0002c0011t0001g0213 a0002c0011t0001g0216 a0002c0011t0002g0277 a0002c0011t0002g0309 a0002c0011t0002g0310 a0002c0011t0014g0335 a0002c0018t0001g0224 a0002c0018t0001g0234 a0002c0023t0006g0306 a0002c0026t0004g0266 a0002c0026t0004g0313 a0002c0026t0004g0342 a0002c0039t0002g0271 a0002c0039t0002g0302 a0002c0040t0002g0274 a0002c0040t0002g0339 a0002c0043t0001g0181 a0002c0043t0001g0223 a0002c0047t0002g0337 a0002c0047t0002g0338 a0002c0082t0002g0296 a0002c0083t0001g0173 a0002c0085t0001g0245 a0002c0088t0003g0225 a0002c0091t0001g0237 a0002c0106t0001g0242 a0002c0112t0002g0273 a0003c0008t0001g0169 a0003c0008t0001g0170 a0003c0008t0001g0210 a0003c0008t0001g0211 a0003c0008t0002g0285 a0003c0008t0002g0286 a0003c0008t0002g0315 a0003c0008t0002g0333 a0003c0009t0001g0191 a0003c0009t0001g0201 a0003c0009t0001g0203 a0003c0009t0001g0205 a0003c0009t0001g0229 a0003c0009t0001g0238 a0003c0009t0002g0324 a0003c0009t0002g0334 a0003c0014t0001g0212 a0003c0014t0001g0249 a0003c0014t0002g0284 a0003c0014t0002g0298 a0003c0014t0002g0319 a0003c0014t0002g0332 a0003c0041t0002g0300 a0003c0041t0002g0303 a0003c0049t0001g0243 a0003c0080t0001g0208 a0003c0081t0009g0183 a0003c0084t0002g0328 a0003c0086t0001g0219 a0003c0089t0003g0253 a0003c0090t0004g0325 a0003c0105t0001g0235 a0003c0107t0001g0244 a0004c0005t0001g0003 a0004c0005t0001g0031 a0004c0005t0001g0033 a0004c0005t0001g0045 a0004c0005t0001g0056 a0004c0005t0001g0075 a0004c0005t0001g0077 a0004c0005t0001g0080 a0004c0005t0001g0081 a0004c0005t0001g0096 a0004c0005t0001g0101 a0004c0005t0001g0115 a0004c0005t0001g0137 a0004c0005t0001g0144 a0004c0005t0001g0164 a0004c0017t0001g0004 a0004c0017t0001g0010 a0004c0017t0001g0043 a0004c0017t0001g0093 a0004c0017t0005g0073 a0004c0021t0001g0028 a0004c0021t0001g0053 a0004c0022t0001g0048 a0004c0022t0001g0148 a0004c0025t0001g0018 a0004c0025t0001g0042 a0004c0025t0001g0132 a0004c0053t0001g0055 a0004c0060t0001g0016 a0004c0061t0003g0131 a0004c0077t0001g0015 a0005c0034t0001g0146 a0005c0034t0001g0165 a0006c0042t0002g0278 a0006c0042t0002g0280 a0008c0054t0001g0139 a0011c0087t0011g0289	208	344	0.6047	0	c.780 others(5): Show c.780+7G>A		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	13/51					chr13	TogoVar
COL4A1_chr13_110143963_110312157	110213918	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00408.hp1 HG00639.hp1 others(49): Show HG00140.hp2 HG00408.hp1 HG00639.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01981.hp1 HG02004.hp1 HG02071.hp1 HG02129.hp2 HG02165.hp2 HG02293.hp1 HG02602.hp2 HG02698.hp1 HG02717.hp2 HG02922.hp2 HG03453.hp2 HG03490.hp1 HG03540.hp1 NA18612.hp1 NA18747.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18950.hp1 NA18960.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19012.hp2 NA19056.hp1 NA19058.hp1 NA19081.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp2 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0003 a0001c0007 a0001c0013 others(17): Show a0001c0003 a0001c0007 a0001c0013 a0002c0004 a0002c0018 a0002c0023 a0002c0047 a0002c0106 a0002c0109 a0002c0110 a0003c0008 a0003c0049 a0003c0105 a0003c0107 a0003c0111 a0004c0021 a0004c0022 a0004c0025 a0004c0077 a0004c0078	a0001c0003t0001 a0001c0007t0001 a0001c0013t0001 others(19): Show a0001c0003t0001 a0001c0007t0001 a0001c0013t0001 a0002c0004t0001 a0002c0004t0002 a0002c0018t0001 a0002c0023t0006 a0002c0047t0002 a0002c0106t0001 a0002c0109t0002 a0002c0110t0003 a0003c0008t0001 a0003c0008t0002 a0003c0049t0001 a0003c0105t0001 a0003c0107t0001 a0003c0111t0001 a0004c0021t0001 a0004c0022t0001 a0004c0025t0001 a0004c0077t0001 a0004c0078t0001	a0001c0003t0001g0014 a0001c0003t0001g0054 a0001c0003t0001g0059 others(49): Show a0001c0003t0001g0014 a0001c0003t0001g0054 a0001c0003t0001g0059 a0001c0003t0001g0074 a0001c0003t0001g0085 a0001c0003t0001g0092 a0001c0003t0001g0105 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0154 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0007t0001g0065 a0001c0013t0001g0122 a0002c0004t0001g0214 a0002c0004t0001g0236 a0002c0004t0001g0250 a0002c0004t0002g0287 a0002c0004t0002g0314 a0002c0004t0002g0323 a0002c0018t0001g0224 a0002c0018t0001g0234 a0002c0023t0006g0306 a0002c0047t0002g0337 a0002c0047t0002g0338 a0002c0106t0001g0242 a0002c0109t0002g0267 a0002c0110t0003g0257 a0003c0008t0001g0169 a0003c0008t0001g0170 a0003c0008t0001g0210 a0003c0008t0001g0211 a0003c0008t0002g0285 a0003c0008t0002g0286 a0003c0008t0002g0315 a0003c0008t0002g0333 a0003c0049t0001g0243 a0003c0049t0001g0262 a0003c0105t0001g0235 a0003c0107t0001g0244 a0003c0111t0001g0218 a0004c0021t0001g0028 a0004c0021t0001g0053 a0004c0022t0001g0048 a0004c0022t0001g0148 a0004c0025t0001g0018 a0004c0025t0001g0042 a0004c0025t0001g0132 a0004c0077t0001g0015 a0004c0078t0001g0068	52	344	0.1512	0	c.234 others(5): Show c.234+8C>T		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	3/51					chr13	TogoVar
COL4A2_chr13_110302284_110518209	110438619	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18991.hp2 NA18991.hp2	a0016 a0016	a0016c0048 a0016c0048	a0016c0048t0005 a0016c0048t0005	a0016c0048t0005g0206 a0016c0048t0005g0206	1	372	0.0027	0	c.863 others(3): Show c.863G>C	p.Gly others(6): Show p.Gly288Ala	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	15/48	1152/6446	863/5139	288/1712		chr13	TogoVar
COL4A2_chr13_110302284_110518209	110446790	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0283 a0001c0001t0046g0283	1	372	0.0027	0	c.101 others(6): Show c.1012-8T>G		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	17/47					chr13	TogoVar
COL4A2_chr13_110302284_110518209	110458942	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18957.hp2 NA19065.hp2 NA18957.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0002 a0001c0002t0001 a0001c0005t0002	a0001c0002t0001g0243 a0001c0005t0002g0342 a0001c0002t0001g0243 a0001c0005t0002g0342	2	372	0.0054	0	c.159 others(6): Show c.1596+8G>C		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	22/47					chr13	TogoVar
COL4A2_chr13_110302284_110518209	110462191	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp2 HG02965.hp2 HG03453.hp2 HG02922.hp2 HG02965.hp2 HG03453.hp2	a0002 a0002	a0002c0054 a0002c0055 a0002c0056 a0002c0054 a0002c0055 a0002c0056	a0002c0054t0045 a0002c0055t0016 a0002c0056t0004 a0002c0054t0045 a0002c0055t0016 a0002c0056t0004	a0002c0054t0045g0233 a0002c0055t0016g0250 a0002c0056t0004g0266 a0002c0054t0045g0233 a0002c0055t0016g0250 a0002c0056t0004g0266	3	372	0.0081	0	c.166 others(6): Show c.1669+5G>C		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	23/47					chr13	TogoVar
COL4A2_chr13_110302284_110518209	110465398	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(153): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp2 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18955.hp2 NA18960.hp1 NA18970.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18987.hp1 NA18988.hp2 NA18991.hp2 NA18992.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19063.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0007 a0009 a0010 a0011 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0027	a0001c0001 a0001c0008 a0001c0014 others(72): Show a0001c0001 a0001c0008 a0001c0014 a0001c0022 a0001c0075 a0001c0079 a0002c0006 a0002c0013 a0002c0017 a0002c0019 a0002c0035 a0002c0038 a0002c0050 a0002c0054 a0002c0055 a0002c0056 a0002c0062 a0002c0063 a0002c0064 a0002c0065 a0002c0066 a0002c0082 a0002c0086 a0002c0087 a0002c0090 a0002c0091 a0002c0092 a0002c0107 a0002c0110 a0002c0111 a0002c0120 a0002c0121 a0003c0007 a0003c0010 a0003c0018 a0003c0026 a0003c0039 a0003c0040 a0003c0044 a0003c0067 a0003c0068 a0003c0069 a0003c0070 a0003c0071 a0003c0093 a0003c0094 a0003c0095 a0003c0105 a0003c0112 a0003c0116 a0003c0117 a0003c0118 a0004c0009 a0004c0012 a0004c0030 a0004c0058 a0004c0081 a0004c0084 a0004c0085 a0004c0089 a0007c0031 a0007c0059 a0007c0060 a0009c0057 a0009c0088 a0010c0036 a0011c0032 a0016c0048 a0017c0061 a0018c0049 a0019c0072 a0020c0096 a0021c0053 a0022c0078 a0027c0080	a0001c0001t0005 a0001c0001t0006 a0001c0008t0001 others(115): Show a0001c0001t0005 a0001c0001t0006 a0001c0008t0001 a0001c0008t0002 a0001c0008t0011 a0001c0014t0001 a0001c0022t0014 a0001c0075t0001 a0001c0079t0005 a0002c0006t0001 a0002c0006t0002 a0002c0006t0003 a0002c0006t0004 a0002c0006t0005 a0002c0006t0006 a0002c0013t0001 a0002c0013t0002 a0002c0013t0005 a0002c0013t0006 a0002c0013t0008 a0002c0013t0043 a0002c0017t0002 a0002c0017t0003 a0002c0019t0002 a0002c0019t0004 a0002c0019t0006 a0002c0019t0037 a0002c0035t0003 a0002c0035t0012 a0002c0038t0001 a0002c0038t0002 a0002c0050t0002 a0002c0054t0045 a0002c0055t0016 a0002c0056t0004 a0002c0062t0047 a0002c0063t0007 a0002c0064t0009 a0002c0065t0014 a0002c0066t0007 a0002c0082t0004 a0002c0086t0002 a0002c0087t0001 a0002c0090t0008 a0002c0091t0001 a0002c0092t0001 a0002c0107t0033 a0002c0110t0008 a0002c0111t0015 a0002c0120t0007 a0002c0121t0016 a0003c0007t0001 a0003c0007t0002 a0003c0007t0004 a0003c0007t0005 a0003c0007t0006 a0003c0007t0008 a0003c0007t0020 a0003c0007t0030 a0003c0007t0035 a0003c0007t0038 a0003c0010t0004 a0003c0010t0005 a0003c0010t0006 a0003c0010t0008 a0003c0018t0004 a0003c0018t0005 a0003c0018t0006 a0003c0026t0001 a0003c0039t0004 a0003c0039t0008 a0003c0040t0001 a0003c0040t0002 a0003c0044t0004 a0003c0067t0050 a0003c0068t0024 a0003c0069t0009 a0003c0070t0005 a0003c0071t0001 a0003c0093t0010 a0003c0094t0025 a0003c0095t0003 a0003c0105t0011 a0003c0112t0006 a0003c0116t0022 a0003c0117t0006 a0003c0118t0036 a0004c0009t0001 a0004c0009t0002 a0004c0009t0003 a0004c0012t0001 a0004c0012t0002 a0004c0012t0003 a0004c0012t0004 a0004c0012t0008 a0004c0030t0001 a0004c0058t0001 a0004c0081t0001 a0004c0084t0005 a0004c0085t0001 a0004c0089t0005 a0007c0031t0002 a0007c0031t0009 a0007c0059t0024 a0007c0060t0015 a0009c0057t0001 a0009c0088t0002 a0010c0036t0021 a0011c0032t0002 a0011c0032t0003 a0016c0048t0005 a0017c0061t0011 a0018c0049t0031 a0019c0072t0048 a0020c0096t0010 a0021c0053t0007 a0022c0078t0003 a0027c0080t0003	a0001c0001t0005g0107 a0001c0001t0005g0154 a0001c0001t0006g0047 others(152): Show a0001c0001t0005g0107 a0001c0001t0005g0154 a0001c0001t0006g0047 a0001c0008t0001g0108 a0001c0008t0001g0149 a0001c0008t0002g0344 a0001c0008t0011g0011 a0001c0014t0001g0194 a0001c0022t0014g0037 a0001c0075t0001g0106 a0001c0079t0005g0361 a0002c0006t0001g0114 a0002c0006t0001g0228 a0002c0006t0001g0258 a0002c0006t0001g0294 a0002c0006t0002g0024 a0002c0006t0003g0084 a0002c0006t0004g0272 a0002c0006t0005g0110 a0002c0006t0005g0157 a0002c0006t0006g0066 a0002c0006t0006g0070 a0002c0006t0006g0090 a0002c0006t0006g0143 a0002c0006t0006g0144 a0002c0013t0001g0044 a0002c0013t0002g0265 a0002c0013t0005g0036 a0002c0013t0005g0188 a0002c0013t0006g0118 a0002c0013t0008g0006 a0002c0013t0043g0016 a0002c0017t0002g0295 a0002c0017t0002g0300 a0002c0017t0002g0316 a0002c0017t0002g0334 a0002c0017t0002g0370 a0002c0017t0003g0126 a0002c0019t0002g0303 a0002c0019t0004g0365 a0002c0019t0006g0131 a0002c0019t0037g0026 a0002c0035t0003g0142 a0002c0035t0012g0328 a0002c0038t0001g0212 a0002c0038t0002g0360 a0002c0050t0002g0317 a0002c0054t0045g0233 a0002c0055t0016g0250 a0002c0056t0004g0266 a0002c0062t0047g0298 a0002c0063t0007g0147 a0002c0064t0009g0170 a0002c0065t0014g0028 a0002c0066t0007g0181 a0002c0082t0004g0366 a0002c0086t0002g0279 a0002c0087t0001g0256 a0002c0090t0008g0041 a0002c0091t0001g0210 a0002c0092t0001g0230 a0002c0107t0033g0174 a0002c0110t0008g0014 a0002c0111t0015g0368 a0002c0120t0007g0029 a0002c0121t0016g0238 a0003c0007t0001g0031 a0003c0007t0002g0263 a0003c0007t0004g0347 a0003c0007t0005g0169 a0003c0007t0005g0221 a0003c0007t0005g0259 a0003c0007t0006g0119 a0003c0007t0008g0038 a0003c0007t0008g0186 a0003c0007t0020g0120 a0003c0007t0030g0352 a0003c0007t0035g0025 a0003c0007t0038g0019 a0003c0010t0004g0002 a0003c0010t0004g0268 a0003c0010t0004g0351 a0003c0010t0005g0218 a0003c0010t0006g0017 a0003c0010t0006g0018 a0003c0010t0006g0134 a0003c0010t0008g0010 a0003c0018t0004g0309 a0003c0018t0005g0116 a0003c0018t0005g0117 a0003c0018t0006g0121 a0003c0018t0006g0145 a0003c0026t0001g0032 a0003c0026t0001g0034 a0003c0026t0001g0112 a0003c0039t0004g0251 a0003c0039t0008g0027 a0003c0040t0001g0203 a0003c0040t0002g0261 a0003c0044t0004g0326 a0003c0044t0004g0327 a0003c0067t0050g0151 a0003c0068t0024g0247 a0003c0069t0009g0008 a0003c0070t0005g0226 a0003c0071t0001g0209 a0003c0093t0010g0148 a0003c0094t0025g0175 a0003c0095t0003g0082 a0003c0105t0011g0168 a0003c0112t0006g0068 a0003c0116t0022g0367 a0003c0117t0006g0023 a0003c0118t0036g0139 a0004c0009t0001g0111 a0004c0009t0001g0244 a0004c0009t0002g0289 a0004c0009t0002g0325 a0004c0009t0003g0055 a0004c0009t0003g0062 a0004c0009t0003g0078 a0004c0009t0003g0122 a0004c0009t0003g0128 a0004c0012t0001g0162 a0004c0012t0001g0199 a0004c0012t0002g0277 a0004c0012t0003g0077 a0004c0012t0004g0299 a0004c0012t0004g0307 a0004c0012t0008g0009 a0004c0030t0001g0113 a0004c0030t0001g0179 a0004c0058t0001g0183 a0004c0081t0001g0246 a0004c0084t0005g0253 a0004c0085t0001g0200 a0004c0089t0005g0187 a0007c0031t0002g0364 a0007c0031t0009g0042 a0007c0059t0024g0252 a0007c0060t0015g0264 a0009c0057t0001g0234 a0009c0088t0002g0160 a0010c0036t0021g0319 a0010c0036t0021g0320 a0011c0032t0002g0302 a0011c0032t0003g0123 a0016c0048t0005g0206 a0017c0061t0011g0039 a0018c0049t0031g0045 a0019c0072t0048g0223 a0020c0096t0010g0208 a0021c0053t0007g0241 a0022c0078t0003g0138 a0027c0080t0003g0057	156	372	0.4194	0	c.177 others(6): Show c.1777-7C>T		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	24/47					chr13	TogoVar
COL4A2_chr13_110302284_110518209	110478172	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(164): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00609.hp2 HG00738.hp2 HG01074.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01261.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18992.hp1 NA18992.hp2 NA19001.hp1 NA19002.hp1 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0012 a0018 a0020 a0024 a0027	a0001c0001 a0001c0002 a0001c0003 others(61): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0022 a0001c0024 a0001c0025 a0001c0029 a0001c0045 a0001c0046 a0001c0079 a0001c0083 a0001c0100 a0001c0101 a0001c0102 a0001c0114 a0002c0006 a0002c0013 a0002c0019 a0002c0038 a0002c0041 a0002c0062 a0002c0063 a0002c0064 a0002c0082 a0002c0090 a0002c0097 a0002c0110 a0002c0111 a0002c0122 a0003c0007 a0003c0010 a0003c0039 a0003c0040 a0003c0068 a0003c0070 a0003c0071 a0003c0093 a0003c0094 a0003c0095 a0003c0105 a0003c0112 a0003c0117 a0003c0118 a0004c0009 a0004c0012 a0004c0030 a0004c0058 a0004c0081 a0005c0021 a0006c0033 a0007c0031 a0007c0059 a0012c0034 a0018c0049 a0020c0096 a0024c0076 a0027c0080	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(110): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0023 a0001c0001t0042 a0001c0001t0046 a0001c0002t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0017 a0001c0003t0049 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0001c0004t0006 a0001c0005t0001 a0001c0005t0003 a0001c0008t0001 a0001c0008t0004 a0001c0008t0007 a0001c0008t0011 a0001c0011t0004 a0001c0011t0013 a0001c0014t0005 a0001c0014t0006 a0001c0014t0009 a0001c0015t0001 a0001c0015t0002 a0001c0015t0003 a0001c0016t0003 a0001c0022t0014 a0001c0022t0018 a0001c0022t0019 a0001c0024t0003 a0001c0025t0001 a0001c0025t0002 a0001c0029t0002 a0001c0045t0003 a0001c0045t0027 a0001c0046t0009 a0001c0046t0034 a0001c0079t0005 a0001c0083t0001 a0001c0100t0001 a0001c0101t0019 a0001c0102t0011 a0001c0114t0010 a0002c0006t0001 a0002c0006t0005 a0002c0006t0006 a0002c0013t0001 a0002c0013t0005 a0002c0013t0006 a0002c0013t0008 a0002c0019t0002 a0002c0019t0004 a0002c0019t0006 a0002c0019t0037 a0002c0038t0001 a0002c0041t0002 a0002c0041t0018 a0002c0062t0047 a0002c0063t0007 a0002c0064t0009 a0002c0082t0004 a0002c0090t0008 a0002c0097t0015 a0002c0110t0008 a0002c0111t0015 a0002c0122t0003 a0003c0007t0001 a0003c0007t0002 a0003c0007t0008 a0003c0007t0038 a0003c0010t0006 a0003c0039t0004 a0003c0039t0008 a0003c0040t0001 a0003c0068t0024 a0003c0070t0005 a0003c0071t0001 a0003c0093t0010 a0003c0094t0025 a0003c0095t0003 a0003c0105t0011 a0003c0112t0006 a0003c0117t0006 a0003c0118t0036 a0004c0009t0001 a0004c0009t0002 a0004c0009t0003 a0004c0012t0001 a0004c0012t0002 a0004c0012t0004 a0004c0012t0008 a0004c0030t0001 a0004c0058t0001 a0004c0081t0001 a0005c0021t0006 a0005c0021t0028 a0006c0033t0012 a0007c0031t0009 a0007c0059t0024 a0012c0034t0001 a0018c0049t0031 a0020c0096t0010 a0024c0076t0003 a0027c0080t0003	a0001c0001t0001g0001 a0001c0001t0001g0155 a0001c0001t0001g0189 others(163): Show a0001c0001t0001g0001 a0001c0001t0001g0155 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0231 a0001c0001t0002g0306 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0092 a0001c0001t0003g0098 a0001c0001t0003g0135 a0001c0001t0004g0348 a0001c0001t0005g0154 a0001c0001t0005g0192 a0001c0001t0010g0033 a0001c0001t0010g0035 a0001c0001t0023g0329 a0001c0001t0042g0022 a0001c0001t0046g0283 a0001c0002t0005g0100 a0001c0003t0001g0165 a0001c0003t0001g0248 a0001c0003t0001g0254 a0001c0003t0002g0267 a0001c0003t0002g0293 a0001c0003t0002g0296 a0001c0003t0002g0333 a0001c0003t0002g0340 a0001c0003t0002g0353 a0001c0003t0003g0056 a0001c0003t0003g0061 a0001c0003t0003g0088 a0001c0003t0003g0089 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0017g0178 a0001c0003t0017g0245 a0001c0003t0049g0274 a0001c0004t0001g0099 a0001c0004t0002g0288 a0001c0004t0004g0278 a0001c0004t0004g0291 a0001c0004t0004g0354 a0001c0004t0004g0355 a0001c0004t0004g0356 a0001c0004t0004g0357 a0001c0004t0005g0104 a0001c0004t0005g0163 a0001c0004t0005g0229 a0001c0004t0006g0053 a0001c0005t0001g0249 a0001c0005t0001g0257 a0001c0005t0001g0362 a0001c0005t0003g0071 a0001c0008t0001g0202 a0001c0008t0001g0222 a0001c0008t0004g0282 a0001c0008t0007g0214 a0001c0008t0011g0011 a0001c0011t0004g0311 a0001c0011t0013g0105 a0001c0011t0013g0220 a0001c0011t0013g0255 a0001c0014t0005g0240 a0001c0014t0006g0095 a0001c0014t0009g0004 a0001c0015t0001g0227 a0001c0015t0002g0269 a0001c0015t0002g0284 a0001c0015t0002g0343 a0001c0015t0003g0086 a0001c0015t0003g0093 a0001c0016t0003g0094 a0001c0022t0014g0037 a0001c0022t0018g0173 a0001c0022t0019g0130 a0001c0024t0003g0060 a0001c0024t0003g0087 a0001c0025t0001g0201 a0001c0025t0002g0339 a0001c0025t0002g0346 a0001c0029t0002g0330 a0001c0045t0003g0021 a0001c0045t0027g0205 a0001c0046t0009g0171 a0001c0046t0034g0007 a0001c0079t0005g0361 a0001c0083t0001g0191 a0001c0100t0001g0164 a0001c0101t0019g0129 a0001c0102t0011g0172 a0001c0114t0010g0030 a0002c0006t0001g0114 a0002c0006t0001g0294 a0002c0006t0005g0110 a0002c0006t0006g0066 a0002c0013t0001g0044 a0002c0013t0005g0036 a0002c0013t0005g0188 a0002c0013t0006g0118 a0002c0013t0008g0006 a0002c0019t0002g0303 a0002c0019t0004g0365 a0002c0019t0006g0131 a0002c0019t0037g0026 a0002c0038t0001g0212 a0002c0041t0002g0369 a0002c0041t0018g0003 a0002c0062t0047g0298 a0002c0063t0007g0147 a0002c0064t0009g0170 a0002c0082t0004g0366 a0002c0090t0008g0041 a0002c0097t0015g0260 a0002c0110t0008g0014 a0002c0111t0015g0368 a0002c0122t0003g0020 a0003c0007t0001g0031 a0003c0007t0002g0263 a0003c0007t0008g0038 a0003c0007t0038g0019 a0003c0010t0006g0017 a0003c0010t0006g0018 a0003c0010t0006g0134 a0003c0039t0004g0251 a0003c0039t0008g0027 a0003c0040t0001g0203 a0003c0068t0024g0247 a0003c0070t0005g0226 a0003c0071t0001g0209 a0003c0093t0010g0148 a0003c0094t0025g0175 a0003c0095t0003g0082 a0003c0105t0011g0168 a0003c0112t0006g0068 a0003c0117t0006g0023 a0003c0118t0036g0139 a0004c0009t0001g0244 a0004c0009t0002g0289 a0004c0009t0003g0055 a0004c0009t0003g0062 a0004c0009t0003g0078 a0004c0009t0003g0122 a0004c0009t0003g0128 a0004c0012t0001g0162 a0004c0012t0001g0199 a0004c0012t0002g0277 a0004c0012t0004g0307 a0004c0012t0008g0009 a0004c0030t0001g0113 a0004c0030t0001g0179 a0004c0058t0001g0183 a0004c0081t0001g0246 a0005c0021t0006g0054 a0005c0021t0028g0239 a0006c0033t0012g0335 a0006c0033t0012g0336 a0007c0031t0009g0042 a0007c0059t0024g0252 a0012c0034t0001g0196 a0012c0034t0001g0197 a0018c0049t0031g0045 a0020c0096t0010g0208 a0024c0076t0003g0076 a0027c0080t0003g0057	167	372	0.4489	0	c.258 others(6): Show c.2587+8C>T		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	30/47					chr13	TogoVar
COL4A2_chr13_110302284_110518209	110482511	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00423.hp2 HG00544.hp2 others(65): Show HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01175.hp2 HG01243.hp1 HG01346.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02083.hp2 HG02135.hp1 HG02155.hp2 HG02257.hp1 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp2 HG02976.hp2 HG03017.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18945.hp1 NA18950.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18970.hp2 NA18983.hp1 NA18988.hp1 NA18992.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19062.hp1 NA19082.hp2 NA19088.hp2 NA20300.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0013 a0015 a0019	a0001c0001 a0001c0002 a0001c0003 others(34): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0022 a0001c0024 a0001c0025 a0001c0046 a0001c0114 a0001c0119 a0002c0006 a0002c0013 a0002c0017 a0002c0019 a0002c0041 a0002c0050 a0002c0065 a0002c0066 a0002c0082 a0002c0086 a0002c0091 a0002c0092 a0003c0069 a0003c0116 a0003c0117 a0004c0009 a0004c0012 a0004c0084 a0006c0033 a0007c0031 a0007c0060 a0013c0042 a0015c0109 a0019c0072	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(54): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 a0001c0002t0001 a0001c0002t0029 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0017 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0008t0003 a0001c0011t0004 a0001c0011t0022 a0001c0022t0014 a0001c0024t0003 a0001c0025t0002 a0001c0046t0034 a0001c0114t0010 a0001c0119t0032 a0002c0006t0001 a0002c0006t0002 a0002c0006t0003 a0002c0006t0006 a0002c0013t0002 a0002c0013t0008 a0002c0013t0043 a0002c0017t0002 a0002c0019t0004 a0002c0019t0006 a0002c0041t0002 a0002c0050t0002 a0002c0065t0014 a0002c0066t0007 a0002c0082t0004 a0002c0086t0002 a0002c0091t0001 a0002c0092t0001 a0003c0069t0009 a0003c0116t0022 a0003c0117t0006 a0004c0009t0001 a0004c0012t0003 a0004c0084t0005 a0006c0033t0012 a0007c0031t0002 a0007c0060t0015 a0013c0042t0002 a0015c0109t0002 a0019c0072t0048	a0001c0001t0001g0155 a0001c0001t0001g0363 a0001c0001t0003g0063 others(65): Show a0001c0001t0001g0155 a0001c0001t0001g0363 a0001c0001t0003g0063 a0001c0001t0003g0091 a0001c0001t0006g0074 a0001c0001t0006g0075 a0001c0001t0023g0329 a0001c0002t0001g0101 a0001c0002t0029g0204 a0001c0003t0001g0248 a0001c0003t0002g0333 a0001c0003t0002g0353 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0017g0178 a0001c0004t0001g0150 a0001c0004t0002g0359 a0001c0004t0003g0059 a0001c0004t0003g0140 a0001c0004t0004g0291 a0001c0004t0005g0104 a0001c0004t0005g0229 a0001c0005t0001g0102 a0001c0005t0002g0297 a0001c0005t0003g0103 a0001c0008t0003g0081 a0001c0011t0004g0207 a0001c0011t0022g0358 a0001c0022t0014g0037 a0001c0024t0003g0087 a0001c0025t0002g0346 a0001c0046t0034g0007 a0001c0114t0010g0030 a0001c0119t0032g0005 a0002c0006t0001g0258 a0002c0006t0002g0024 a0002c0006t0003g0084 a0002c0006t0006g0090 a0002c0013t0002g0265 a0002c0013t0008g0006 a0002c0013t0043g0016 a0002c0017t0002g0300 a0002c0017t0002g0316 a0002c0017t0002g0334 a0002c0017t0002g0370 a0002c0019t0004g0365 a0002c0019t0006g0131 a0002c0041t0002g0369 a0002c0050t0002g0317 a0002c0065t0014g0028 a0002c0066t0007g0181 a0002c0082t0004g0366 a0002c0086t0002g0279 a0002c0091t0001g0210 a0002c0092t0001g0230 a0003c0069t0009g0008 a0003c0116t0022g0367 a0003c0117t0006g0023 a0004c0009t0001g0111 a0004c0012t0003g0077 a0004c0084t0005g0253 a0006c0033t0012g0336 a0007c0031t0002g0364 a0007c0060t0015g0264 a0013c0042t0002g0313 a0013c0042t0002g0314 a0015c0109t0002g0321 a0019c0072t0048g0223	68	372	0.1828	0	c.275 others(6): Show c.2759-5T>C		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47					chr13	TogoVar
COL4A2_chr13_110302284_110518209	110492065	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp2 HG00642.hp2 HG01346.hp2 others(45): Show HG00423.hp2 HG00642.hp2 HG01346.hp2 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02451.hp1 HG02602.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03710.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18975.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA19007.hp2 NA19056.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19074.hp1 NA19080.hp2 NA19081.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0012 a0015 a0024 a0027	a0001c0001 a0001c0002 a0001c0003 others(21): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0014 a0001c0015 a0001c0025 a0001c0028 a0001c0029 a0001c0079 a0001c0100 a0002c0006 a0002c0050 a0002c0073 a0002c0092 a0003c0007 a0003c0069 a0004c0009 a0012c0034 a0015c0109 a0024c0076 a0027c0080	a0001c0001t0004 a0001c0001t0005 a0001c0001t0023 others(33): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0023 a0001c0002t0001 a0001c0002t0023 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0004t0004 a0001c0005t0001 a0001c0005t0002 a0001c0008t0001 a0001c0008t0004 a0001c0014t0005 a0001c0015t0001 a0001c0015t0002 a0001c0025t0001 a0001c0025t0002 a0001c0028t0001 a0001c0029t0002 a0001c0079t0005 a0001c0100t0001 a0002c0006t0005 a0002c0050t0002 a0002c0073t0002 a0002c0092t0001 a0003c0007t0020 a0003c0007t0030 a0003c0069t0009 a0004c0009t0001 a0004c0009t0002 a0012c0034t0001 a0015c0109t0002 a0024c0076t0003 a0027c0080t0003	a0001c0001t0004g0348 a0001c0001t0005g0154 a0001c0001t0023g0329 others(45): Show a0001c0001t0004g0348 a0001c0001t0005g0154 a0001c0001t0023g0329 a0001c0002t0001g0101 a0001c0002t0023g0305 a0001c0003t0001g0232 a0001c0003t0002g0296 a0001c0003t0002g0341 a0001c0003t0003g0049 a0001c0003t0003g0065 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0004t0001g0099 a0001c0004t0004g0278 a0001c0004t0004g0354 a0001c0004t0004g0355 a0001c0004t0004g0356 a0001c0004t0004g0357 a0001c0005t0001g0257 a0001c0005t0001g0362 a0001c0005t0002g0297 a0001c0008t0001g0222 a0001c0008t0004g0285 a0001c0014t0005g0240 a0001c0015t0001g0227 a0001c0015t0002g0269 a0001c0015t0002g0284 a0001c0025t0001g0201 a0001c0025t0002g0339 a0001c0025t0002g0346 a0001c0028t0001g0167 a0001c0029t0002g0330 a0001c0079t0005g0361 a0001c0100t0001g0164 a0002c0006t0005g0110 a0002c0050t0002g0317 a0002c0073t0002g0213 a0002c0092t0001g0230 a0003c0007t0020g0120 a0003c0007t0030g0352 a0003c0069t0009g0008 a0004c0009t0001g0244 a0004c0009t0002g0289 a0012c0034t0001g0196 a0012c0034t0001g0197 a0015c0109t0002g0321 a0024c0076t0003g0076 a0027c0080t0003g0057	48	372	0.1290	0	c.345 others(6): Show c.3455-5C>G		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	37/47					chr13	TogoVar
COL4A2_chr13_110302284_110518209	110493115	GAAATAAC others(27): Show GAAATAACGATGAGTGACACCCCCGCAGGTGAAAT	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0202 a0001c0008t0001g0202	1	372	0.0027	-34	c.356 others(46): Show c.3563-32_3564delGAAATAAATAACGATGAGTGACACCCCCGCAGG T	p.Gly others(6): Show p.Gly1188fs	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	39/48		3563/5139	1188/1712	INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110493286	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp2 HG00642.hp2 HG01346.hp2 others(49): Show HG00423.hp2 HG00642.hp2 HG01346.hp2 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02451.hp1 HG02602.hp2 HG03041.hp1 HG03225.hp1 HG03453.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp1 HG03688.hp1 HG03710.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18975.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA19007.hp2 NA19030.hp1 NA19056.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19074.hp1 NA19080.hp2 NA19081.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0012 a0015 a0024 a0027	a0001c0001 a0001c0002 a0001c0003 others(25): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0014 a0001c0015 a0001c0025 a0001c0028 a0001c0029 a0001c0079 a0001c0100 a0002c0006 a0002c0019 a0002c0050 a0002c0073 a0002c0091 a0002c0092 a0002c0113 a0003c0007 a0003c0069 a0003c0116 a0004c0009 a0012c0034 a0015c0109 a0024c0076 a0027c0080	a0001c0001t0004 a0001c0001t0005 a0001c0001t0023 others(37): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0023 a0001c0002t0001 a0001c0002t0023 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0004t0004 a0001c0005t0001 a0001c0005t0002 a0001c0008t0001 a0001c0008t0004 a0001c0014t0005 a0001c0015t0001 a0001c0015t0002 a0001c0025t0001 a0001c0025t0002 a0001c0028t0001 a0001c0029t0002 a0001c0079t0005 a0001c0100t0001 a0002c0006t0005 a0002c0019t0006 a0002c0050t0002 a0002c0073t0002 a0002c0091t0001 a0002c0092t0001 a0002c0113t0008 a0003c0007t0020 a0003c0007t0030 a0003c0069t0009 a0003c0116t0022 a0004c0009t0001 a0004c0009t0002 a0012c0034t0001 a0015c0109t0002 a0024c0076t0003 a0027c0080t0003	a0001c0001t0004g0348 a0001c0001t0005g0154 a0001c0001t0023g0329 others(49): Show a0001c0001t0004g0348 a0001c0001t0005g0154 a0001c0001t0023g0329 a0001c0002t0001g0101 a0001c0002t0023g0305 a0001c0003t0001g0232 a0001c0003t0002g0296 a0001c0003t0002g0341 a0001c0003t0003g0049 a0001c0003t0003g0065 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0004t0001g0099 a0001c0004t0004g0278 a0001c0004t0004g0354 a0001c0004t0004g0355 a0001c0004t0004g0356 a0001c0004t0004g0357 a0001c0005t0001g0257 a0001c0005t0001g0362 a0001c0005t0002g0297 a0001c0008t0001g0222 a0001c0008t0004g0285 a0001c0014t0005g0240 a0001c0015t0001g0227 a0001c0015t0002g0269 a0001c0015t0002g0284 a0001c0025t0001g0201 a0001c0025t0002g0339 a0001c0025t0002g0346 a0001c0028t0001g0167 a0001c0029t0002g0330 a0001c0079t0005g0361 a0001c0100t0001g0164 a0002c0006t0005g0110 a0002c0019t0006g0131 a0002c0050t0002g0317 a0002c0073t0002g0213 a0002c0091t0001g0210 a0002c0092t0001g0230 a0002c0113t0008g0040 a0003c0007t0020g0120 a0003c0007t0030g0352 a0003c0069t0009g0008 a0003c0116t0022g0367 a0004c0009t0001g0244 a0004c0009t0002g0289 a0012c0034t0001g0196 a0012c0034t0001g0197 a0015c0109t0002g0321 a0024c0076t0003g0076 a0027c0080t0003g0057	52	372	0.1398	0	c.363 others(6): Show c.3634+4C>T		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	39/47					chr13	TogoVar
COL4A2_chr13_110302284_110518209	110504262	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03195.hp1 HG03195.hp1	a0019 a0019	a0019c0072 a0019c0072	a0019c0072t0048 a0019c0072t0048	a0019c0072t0048g0223 a0019c0072t0048g0223	1	372	0.0027	0	c.440 others(4): Show c.4400A>C	p.Glu others(7): Show p.Glu1467Ala	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	45/48	4689/6446	4400/5139	1467/1712		chr13	TogoVar
COL4A2_chr13_110302284_110518209	110506330	TAGGTGCA others(34): Show TAGGTGCACCAGGCCGTCCACTCTCTCTCTTTCTCGGGCTGC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0004 a0003c0010t0004	a0003c0010t0004g0002 a0003c0010t0004g0002	2	372	0.0054	-41	c.440 others(53): Show c.4403-24_4419delCTCTCTCTCTTTCTCGGGCTGCAGGTGCACCAG GCCGTCCA	p.Ala others(6): Show p.Ala1469fs	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	46/48		4403/5139	1468/1712	INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110511927	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02717.hp1 HG02976.hp1 HG03130.hp2 HG02717.hp1 HG02976.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0042 a0001c0001t0010 a0001c0001t0042	a0001c0001t0010g0033 a0001c0001t0010g0035 a0001c0001t0042g0022 a0001c0001t0010g0033 a0001c0001t0010g0035 a0001c0001t0042g0022	3	372	0.0081	0	c.488 others(6): Show c.4882-7T>C		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	47/47					chr13	TogoVar
COL4A3_chr2_227159624_227319792	227237964	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp1 HG01169.hp2 HG01361.hp2 others(8): Show HG01167.hp1 HG01169.hp2 HG01361.hp2 HG01975.hp1 HG01981.hp2 HG02273.hp2 NA18969.hp1 NA18990.hp2 NA19007.hp2 NA19077.hp2 NA19084.hp2	a0001 a0004 a0021 a0001 a0004 a0021	a0001c0001 a0004c0003 a0021c0053 a0001c0001 a0004c0003 a0021c0053	a0001c0001t0001 a0001c0001t0002 a0004c0003t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0004c0003t0004 a0021c0053t0001	a0001c0001t0001g0205 a0001c0001t0002g0130 a0001c0001t0002g0291 others(8): Show a0001c0001t0001g0205 a0001c0001t0002g0130 a0001c0001t0002g0291 a0004c0003t0004g0016 a0004c0003t0004g0028 a0004c0003t0004g0129 a0004c0003t0004g0132 a0004c0003t0004g0213 a0004c0003t0004g0250 a0004c0003t0004g0271 a0021c0053t0001g0165	11	344	0.0320	0	c.88- others(4): Show c.88-4C>T		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51					chr2	TogoVar
COL4A3_chr2_227159624_227319792	227294944	GT GT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(215): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(27): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0020 a0021 a0022 a0023 a0024 a0026 a0027 a0028 a0030 a0033 a0034 a0035 a0036 a0038	a0001c0001 a0001c0042 a0001c0047 others(43): Show a0001c0001 a0001c0042 a0001c0047 a0002c0004 a0002c0007 a0002c0026 a0003c0002 a0003c0011 a0003c0040 a0005c0005 a0005c0020 a0005c0029 a0006c0010 a0006c0013 a0006c0016 a0006c0031 a0006c0034 a0008c0009 a0009c0008 a0010c0014 a0010c0018 a0010c0051 a0011c0012 a0012c0017 a0012c0022 a0013c0015 a0014c0023 a0014c0037 a0015c0025 a0016c0024 a0017c0019 a0018c0028 a0020c0050 a0021c0053 a0022c0052 a0023c0046 a0024c0045 a0026c0049 a0027c0048 a0028c0041 a0030c0036 a0033c0030 a0034c0033 a0035c0058 a0036c0057 a0038c0055	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(60): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 a0001c0001t0017 a0001c0001t0024 a0001c0042t0015 a0001c0047t0002 a0002c0004t0001 a0002c0004t0006 a0002c0007t0001 a0002c0007t0003 a0002c0026t0014 a0003c0002t0001 a0003c0002t0006 a0003c0011t0001 a0003c0040t0014 a0005c0005t0001 a0005c0005t0002 a0005c0005t0007 a0005c0020t0002 a0005c0029t0015 a0006c0010t0001 a0006c0010t0006 a0006c0013t0001 a0006c0016t0001 a0006c0016t0006 a0006c0031t0006 a0006c0034t0006 a0008c0009t0001 a0009c0008t0001 a0009c0008t0017 a0009c0008t0023 a0010c0014t0001 a0010c0014t0002 a0010c0018t0002 a0010c0051t0002 a0011c0012t0001 a0012c0017t0001 a0012c0017t0006 a0012c0022t0001 a0013c0015t0002 a0014c0023t0002 a0014c0037t0002 a0015c0025t0003 a0016c0024t0002 a0017c0019t0019 a0018c0028t0001 a0020c0050t0011 a0021c0053t0001 a0022c0052t0001 a0023c0046t0001 a0024c0045t0002 a0026c0049t0001 a0027c0048t0001 a0028c0041t0001 a0030c0036t0011 a0033c0030t0011 a0034c0033t0001 a0035c0058t0001 a0036c0057t0011 a0038c0055t0001	a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0020 others(215): Show a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0257 a0001c0001t0001g0279 a0001c0001t0001g0284 a0001c0001t0001g0292 a0001c0001t0001g0319 a0001c0001t0002g0033 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0097 a0001c0001t0002g0111 a0001c0001t0002g0118 a0001c0001t0002g0130 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0144 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0163 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0180 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0002g0228 a0001c0001t0002g0236 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0286 a0001c0001t0002g0291 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0318 a0001c0001t0002g0344 a0001c0001t0005g0051 a0001c0001t0007g0128 a0001c0001t0007g0278 a0001c0001t0016g0048 a0001c0001t0016g0093 a0001c0001t0017g0209 a0001c0001t0024g0290 a0001c0042t0015g0331 a0001c0047t0002g0027 a0002c0004t0001g0154 a0002c0004t0001g0168 a0002c0004t0006g0039 a0002c0004t0006g0049 a0002c0004t0006g0053 a0002c0004t0006g0234 a0002c0007t0001g0019 a0002c0007t0001g0060 a0002c0007t0001g0068 a0002c0007t0001g0115 a0002c0007t0001g0276 a0002c0007t0001g0310 a0002c0007t0001g0311 a0002c0007t0003g0037 a0002c0026t0014g0071 a0002c0026t0014g0146 a0003c0002t0001g0042 a0003c0002t0001g0229 a0003c0002t0001g0263 a0003c0002t0001g0299 a0003c0002t0006g0064 a0003c0011t0001g0002 a0003c0011t0001g0090 a0003c0011t0001g0260 a0003c0040t0014g0038 a0005c0005t0001g0032 a0005c0005t0001g0176 a0005c0005t0001g0177 a0005c0005t0001g0194 a0005c0005t0001g0243 a0005c0005t0002g0083 a0005c0005t0002g0179 a0005c0005t0002g0197 a0005c0005t0002g0204 a0005c0005t0002g0223 a0005c0005t0007g0109 a0005c0005t0007g0114 a0005c0005t0007g0157 a0005c0005t0007g0162 a0005c0005t0007g0215 a0005c0005t0007g0249 a0005c0005t0007g0280 a0005c0005t0007g0298 a0005c0020t0002g0078 a0005c0020t0002g0079 a0005c0029t0015g0295 a0006c0010t0001g0014 a0006c0010t0006g0058 a0006c0010t0006g0063 a0006c0010t0006g0072 a0006c0010t0006g0113 a0006c0010t0006g0156 a0006c0013t0001g0096 a0006c0013t0001g0329 a0006c0016t0001g0225 a0006c0016t0006g0267 a0006c0031t0006g0081 a0006c0034t0006g0070 a0008c0009t0001g0029 a0008c0009t0001g0085 a0008c0009t0001g0106 a0008c0009t0001g0183 a0008c0009t0001g0193 a0008c0009t0001g0195 a0008c0009t0001g0217 a0008c0009t0001g0241 a0008c0009t0001g0275 a0008c0009t0001g0282 a0008c0009t0001g0285 a0008c0009t0001g0309 a0008c0009t0001g0315 a0009c0008t0001g0077 a0009c0008t0001g0110 a0009c0008t0001g0167 a0009c0008t0001g0187 a0009c0008t0001g0208 a0009c0008t0001g0211 a0009c0008t0001g0224 a0009c0008t0001g0238 a0009c0008t0001g0265 a0009c0008t0001g0270 a0009c0008t0001g0277 a0009c0008t0017g0158 a0009c0008t0023g0322 a0010c0014t0001g0023 a0010c0014t0001g0164 a0010c0014t0002g0021 a0010c0014t0002g0086 a0010c0014t0002g0324 a0010c0018t0002g0104 a0010c0018t0002g0108 a0010c0018t0002g0202 a0010c0051t0002g0145 a0011c0012t0001g0189 a0011c0012t0001g0190 a0011c0012t0001g0239 a0011c0012t0001g0247 a0011c0012t0001g0261 a0011c0012t0001g0262 a0011c0012t0001g0321 a0012c0017t0001g0112 a0012c0017t0006g0003 a0012c0022t0001g0004 a0012c0022t0001g0069 a0013c0015t0002g0074 a0013c0015t0002g0075 a0013c0015t0002g0151 a0013c0015t0002g0258 a0014c0023t0002g0080 a0014c0023t0002g0338 a0014c0037t0002g0196 a0015c0025t0003g0206 a0016c0024t0002g0232 a0016c0024t0002g0294 a0017c0019t0019g0178 a0018c0028t0001g0013 a0020c0050t0011g0061 a0021c0053t0001g0165 a0022c0052t0001g0325 a0023c0046t0001g0313 a0024c0045t0002g0076 a0026c0049t0001g0272 a0027c0048t0001g0141 a0028c0041t0001g0335 a0030c0036t0011g0044 a0033c0030t0011g0043 a0034c0033t0001g0188 a0035c0058t0001g0008 a0036c0057t0011g0006 a0038c0055t0001g0007	218	344	0.6337	-1	c.341 others(7): Show c.3419-4delT		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	39/51				INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227294944	GTT GTT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00423.hp2 HG00609.hp2 others(69): Show HG00099.hp1 HG00423.hp2 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG01074.hp2 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01433.hp1 HG01516.hp2 HG01884.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02155.hp1 HG02280.hp1 HG02451.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18947.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18968.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18995.hp1 NA18998.hp2 NA19007.hp1 NA19010.hp1 NA19043.hp1 NA19057.hp1 NA19058.hp1 NA19063.hp1 NA19077.hp1 NA19085.hp2 NA19086.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0006 a0007 a0011 a0018 a0025 a0031 a0032	a0001c0001 a0002c0004 a0002c0007 others(12): Show a0001c0001 a0002c0004 a0002c0007 a0002c0027 a0003c0002 a0003c0011 a0003c0044 a0004c0003 a0006c0010 a0007c0006 a0011c0021 a0018c0028 a0025c0043 a0031c0038 a0032c0032	a0001c0001t0003 a0002c0004t0003 a0002c0004t0013 others(16): Show a0001c0001t0003 a0002c0004t0003 a0002c0004t0013 a0002c0007t0003 a0002c0027t0003 a0002c0027t0012 a0003c0002t0003 a0003c0002t0006 a0003c0011t0003 a0003c0044t0012 a0004c0003t0003 a0006c0010t0003 a0006c0010t0006 a0007c0006t0005 a0011c0021t0003 a0018c0028t0003 a0025c0043t0012 a0031c0038t0003 a0032c0032t0012	a0001c0001t0003g0274 a0002c0004t0003g0091 a0002c0004t0003g0124 others(69): Show a0001c0001t0003g0274 a0002c0004t0003g0091 a0002c0004t0003g0124 a0002c0004t0003g0125 a0002c0004t0003g0259 a0002c0004t0003g0334 a0002c0004t0013g0067 a0002c0004t0013g0339 a0002c0004t0013g0340 a0002c0007t0003g0065 a0002c0007t0003g0092 a0002c0007t0003g0244 a0002c0027t0003g0342 a0002c0027t0012g0011 a0003c0002t0003g0088 a0003c0002t0003g0089 a0003c0002t0003g0099 a0003c0002t0003g0107 a0003c0002t0003g0123 a0003c0002t0003g0136 a0003c0002t0003g0137 a0003c0002t0003g0159 a0003c0002t0003g0160 a0003c0002t0003g0171 a0003c0002t0003g0174 a0003c0002t0003g0175 a0003c0002t0003g0182 a0003c0002t0003g0207 a0003c0002t0003g0218 a0003c0002t0003g0220 a0003c0002t0003g0237 a0003c0002t0003g0269 a0003c0002t0003g0312 a0003c0002t0003g0314 a0003c0002t0003g0326 a0003c0002t0006g0045 a0003c0011t0003g0010 a0003c0011t0003g0337 a0003c0044t0012g0047 a0004c0003t0003g0031 a0004c0003t0003g0251 a0004c0003t0003g0287 a0004c0003t0003g0288 a0006c0010t0003g0095 a0006c0010t0003g0245 a0006c0010t0003g0316 a0006c0010t0006g0066 a0007c0006t0005g0017 a0007c0006t0005g0030 a0007c0006t0005g0087 a0007c0006t0005g0126 a0007c0006t0005g0133 a0007c0006t0005g0149 a0007c0006t0005g0169 a0007c0006t0005g0199 a0007c0006t0005g0200 a0007c0006t0005g0210 a0007c0006t0005g0227 a0007c0006t0005g0235 a0007c0006t0005g0283 a0007c0006t0005g0289 a0007c0006t0005g0297 a0007c0006t0005g0306 a0007c0006t0005g0327 a0007c0006t0005g0328 a0007c0006t0005g0343 a0011c0021t0003g0320 a0011c0021t0003g0323 a0018c0028t0003g0012 a0025c0043t0012g0233 a0031c0038t0003g0103 a0032c0032t0012g0062	72	344	0.2093	-2	c.341 others(15): Show c.3419-5_3419-4delTT		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	39/51				INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227304151	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	344	0.0029	0	c.415 others(6): Show c.4153+7G>A		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	46/51					chr2	TogoVar
COL4A4_chr2_226997714_227169205	227008312	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(147): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18965.hp1 NA18968.hp1 NA18975.hp2 NA18979.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19006.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19079.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(27): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0013 a0015 a0016 a0018 a0019 a0021 a0022 a0023 a0024 a0027 a0031 a0032 a0033 a0036 a0037 a0038 a0039 a0041 a0042 a0045	a0001c0010 a0002c0002 a0002c0019 others(41): Show a0001c0010 a0002c0002 a0002c0019 a0002c0021 a0002c0058 a0002c0060 a0003c0014 a0004c0004 a0004c0040 a0004c0051 a0005c0007 a0005c0046 a0005c0071 a0006c0005 a0006c0035 a0007c0006 a0007c0031 a0008c0008 a0008c0028 a0010c0018 a0011c0012 a0011c0053 a0013c0013 a0015c0024 a0015c0042 a0016c0064 a0016c0065 a0018c0023 a0019c0025 a0021c0016 a0022c0015 a0023c0039 a0024c0069 a0027c0047 a0031c0061 a0032c0057 a0033c0043 a0036c0055 a0037c0066 a0038c0038 a0039c0067 a0041c0029 a0042c0034 a0045c0030	a0001c0010t0005 a0002c0002t0002 a0002c0002t0004 others(56): Show a0001c0010t0005 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0011 a0002c0002t0026 a0002c0002t0027 a0002c0019t0005 a0002c0021t0002 a0002c0058t0005 a0002c0060t0002 a0003c0014t0002 a0004c0004t0002 a0004c0004t0005 a0004c0004t0020 a0004c0004t0037 a0004c0040t0002 a0004c0051t0005 a0005c0007t0002 a0005c0007t0005 a0005c0046t0005 a0005c0071t0005 a0006c0005t0004 a0006c0005t0009 a0006c0005t0013 a0006c0035t0036 a0007c0006t0004 a0007c0006t0035 a0007c0031t0004 a0008c0008t0004 a0008c0008t0009 a0008c0028t0034 a0010c0018t0004 a0011c0012t0006 a0011c0053t0015 a0013c0013t0006 a0015c0024t0002 a0015c0024t0012 a0015c0042t0013 a0016c0064t0005 a0016c0065t0005 a0018c0023t0002 a0019c0025t0002 a0021c0016t0014 a0022c0015t0004 a0023c0039t0007 a0024c0069t0002 a0027c0047t0015 a0031c0061t0002 a0032c0057t0002 a0033c0043t0011 a0036c0055t0029 a0037c0066t0012 a0038c0038t0005 a0039c0067t0028 a0041c0029t0004 a0042c0034t0004 a0045c0030t0033	a0001c0010t0005g0272 a0001c0010t0005g0275 a0001c0010t0005g0276 others(147): Show a0001c0010t0005g0272 a0001c0010t0005g0275 a0001c0010t0005g0276 a0001c0010t0005g0277 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0043 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0051 a0002c0002t0002g0066 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0002g0092 a0002c0002t0002g0098 a0002c0002t0002g0107 a0002c0002t0002g0110 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0140 a0002c0002t0002g0151 a0002c0002t0002g0177 a0002c0002t0002g0182 a0002c0002t0002g0185 a0002c0002t0002g0188 a0002c0002t0002g0203 a0002c0002t0002g0205 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0236 a0002c0002t0002g0239 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0259 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0004g0149 a0002c0002t0005g0142 a0002c0002t0005g0215 a0002c0002t0007g0049 a0002c0002t0007g0184 a0002c0002t0007g0225 a0002c0002t0011g0222 a0002c0002t0026g0232 a0002c0002t0027g0201 a0002c0019t0005g0029 a0002c0019t0005g0166 a0002c0021t0002g0245 a0002c0021t0002g0246 a0002c0058t0005g0214 a0002c0060t0002g0252 a0003c0014t0002g0069 a0003c0014t0002g0094 a0003c0014t0002g0242 a0004c0004t0002g0042 a0004c0004t0002g0075 a0004c0004t0002g0095 a0004c0004t0002g0147 a0004c0004t0002g0187 a0004c0004t0002g0189 a0004c0004t0002g0202 a0004c0004t0002g0218 a0004c0004t0002g0260 a0004c0004t0005g0030 a0004c0004t0005g0234 a0004c0004t0020g0217 a0004c0004t0037g0062 a0004c0040t0002g0035 a0004c0051t0005g0023 a0005c0007t0002g0053 a0005c0007t0002g0240 a0005c0007t0005g0067 a0005c0007t0005g0121 a0005c0007t0005g0134 a0005c0007t0005g0137 a0005c0046t0005g0159 a0005c0071t0005g0237 a0006c0005t0004g0148 a0006c0005t0004g0156 a0006c0005t0004g0158 a0006c0005t0004g0191 a0006c0005t0004g0193 a0006c0005t0004g0195 a0006c0005t0009g0283 a0006c0005t0013g0154 a0006c0035t0036g0270 a0007c0006t0004g0171 a0007c0006t0004g0172 a0007c0006t0004g0173 a0007c0006t0004g0175 a0007c0006t0004g0176 a0007c0006t0004g0181 a0007c0006t0035g0163 a0007c0031t0004g0170 a0008c0008t0004g0027 a0008c0008t0004g0161 a0008c0008t0004g0164 a0008c0008t0009g0165 a0008c0008t0009g0271 a0008c0028t0034g0160 a0010c0018t0004g0157 a0010c0018t0004g0162 a0011c0012t0006g0032 a0011c0012t0006g0256 a0011c0012t0006g0257 a0011c0053t0015g0152 a0013c0013t0006g0144 a0013c0013t0006g0155 a0013c0013t0006g0212 a0015c0024t0002g0120 a0015c0024t0012g0221 a0015c0042t0013g0041 a0016c0064t0005g0178 a0016c0065t0005g0150 a0018c0023t0002g0052 a0018c0023t0002g0127 a0019c0025t0002g0198 a0019c0025t0002g0261 a0021c0016t0014g0019 a0021c0016t0014g0278 a0022c0015t0004g0145 a0022c0015t0004g0146 a0023c0039t0007g0012 a0024c0069t0002g0015 a0027c0047t0015g0025 a0031c0061t0002g0021 a0032c0057t0002g0220 a0033c0043t0011g0279 a0036c0055t0029g0174 a0037c0066t0012g0059 a0038c0038t0005g0024 a0039c0067t0028g0235 a0041c0029t0004g0026 a0042c0034t0004g0274 a0045c0030t0033g0192	150	284	0.5282	0	c.452 others(6): Show c.4523-8T>C		COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	46/47					chr2	TogoVar
COL4A4_chr2_226997714_227169205	227012175	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	284	0.0035	0	c.433 others(6): Show c.4333+6G>T		COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	45/47					chr2	TogoVar
COL4A4_chr2_226997714_227169205	227027903	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(133): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18939.hp1 NA18941.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18952.hp2 NA18955.hp1 NA18965.hp1 NA18968.hp1 NA18975.hp2 NA18979.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19006.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19079.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0002 a0004 a0005 others(18): Show a0002 a0004 a0005 a0006 a0007 a0008 a0011 a0013 a0015 a0016 a0018 a0021 a0022 a0023 a0024 a0031 a0032 a0037 a0038 a0039 a0041	a0002c0002 a0002c0019 a0002c0021 others(34): Show a0002c0002 a0002c0019 a0002c0021 a0002c0058 a0002c0059 a0002c0060 a0004c0004 a0004c0040 a0004c0051 a0005c0007 a0005c0045 a0005c0046 a0005c0071 a0006c0005 a0006c0035 a0007c0006 a0007c0031 a0008c0008 a0008c0028 a0011c0012 a0011c0053 a0013c0013 a0015c0024 a0015c0042 a0016c0064 a0016c0065 a0018c0023 a0021c0016 a0022c0015 a0023c0039 a0024c0069 a0031c0061 a0032c0057 a0037c0066 a0038c0038 a0039c0067 a0041c0029	a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 others(49): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0011 a0002c0002t0026 a0002c0002t0027 a0002c0019t0005 a0002c0021t0002 a0002c0058t0005 a0002c0059t0025 a0002c0060t0002 a0004c0004t0002 a0004c0004t0005 a0004c0004t0020 a0004c0004t0037 a0004c0040t0002 a0004c0051t0005 a0005c0007t0002 a0005c0007t0005 a0005c0045t0003 a0005c0046t0005 a0005c0071t0005 a0006c0005t0004 a0006c0005t0009 a0006c0005t0013 a0006c0035t0036 a0007c0006t0004 a0007c0006t0035 a0007c0031t0004 a0008c0008t0004 a0008c0008t0009 a0008c0028t0034 a0011c0012t0006 a0011c0053t0015 a0013c0013t0006 a0015c0024t0002 a0015c0024t0012 a0015c0042t0013 a0016c0064t0005 a0016c0065t0005 a0018c0023t0002 a0021c0016t0014 a0022c0015t0004 a0023c0039t0007 a0024c0069t0002 a0031c0061t0002 a0032c0057t0002 a0037c0066t0012 a0038c0038t0005 a0039c0067t0028 a0041c0029t0004	a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0013 others(133): Show a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0043 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0051 a0002c0002t0002g0066 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0002g0092 a0002c0002t0002g0098 a0002c0002t0002g0107 a0002c0002t0002g0110 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0140 a0002c0002t0002g0151 a0002c0002t0002g0177 a0002c0002t0002g0182 a0002c0002t0002g0185 a0002c0002t0002g0188 a0002c0002t0002g0203 a0002c0002t0002g0205 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0236 a0002c0002t0002g0239 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0259 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0004g0149 a0002c0002t0005g0142 a0002c0002t0005g0215 a0002c0002t0007g0049 a0002c0002t0007g0184 a0002c0002t0007g0225 a0002c0002t0011g0222 a0002c0002t0026g0232 a0002c0002t0027g0201 a0002c0019t0005g0029 a0002c0019t0005g0166 a0002c0021t0002g0245 a0002c0021t0002g0246 a0002c0058t0005g0214 a0002c0059t0025g0037 a0002c0060t0002g0252 a0004c0004t0002g0042 a0004c0004t0002g0075 a0004c0004t0002g0095 a0004c0004t0002g0147 a0004c0004t0002g0187 a0004c0004t0002g0189 a0004c0004t0002g0202 a0004c0004t0002g0218 a0004c0004t0002g0260 a0004c0004t0005g0030 a0004c0004t0005g0234 a0004c0004t0020g0217 a0004c0004t0037g0062 a0004c0040t0002g0035 a0004c0051t0005g0023 a0005c0007t0002g0053 a0005c0007t0002g0240 a0005c0007t0005g0067 a0005c0007t0005g0121 a0005c0007t0005g0134 a0005c0007t0005g0137 a0005c0045t0003g0061 a0005c0046t0005g0159 a0005c0071t0005g0237 a0006c0005t0004g0148 a0006c0005t0004g0156 a0006c0005t0004g0158 a0006c0005t0004g0191 a0006c0005t0004g0193 a0006c0005t0004g0195 a0006c0005t0009g0283 a0006c0005t0013g0154 a0006c0035t0036g0270 a0007c0006t0004g0171 a0007c0006t0004g0172 a0007c0006t0004g0173 a0007c0006t0004g0175 a0007c0006t0004g0176 a0007c0006t0004g0181 a0007c0006t0035g0163 a0007c0031t0004g0170 a0008c0008t0004g0027 a0008c0008t0004g0161 a0008c0008t0004g0164 a0008c0008t0009g0165 a0008c0008t0009g0271 a0008c0028t0034g0160 a0011c0012t0006g0032 a0011c0012t0006g0256 a0011c0012t0006g0257 a0011c0053t0015g0152 a0013c0013t0006g0144 a0013c0013t0006g0155 a0013c0013t0006g0212 a0015c0024t0002g0120 a0015c0024t0012g0221 a0015c0042t0013g0041 a0016c0064t0005g0178 a0016c0065t0005g0150 a0018c0023t0002g0052 a0018c0023t0002g0127 a0021c0016t0014g0019 a0021c0016t0014g0278 a0022c0015t0004g0145 a0022c0015t0004g0146 a0023c0039t0007g0012 a0024c0069t0002g0015 a0031c0061t0002g0021 a0032c0057t0002g0220 a0037c0066t0012g0059 a0038c0038t0005g0024 a0039c0067t0028g0235 a0041c0029t0004g0026	136	284	0.4789	0	c.408 others(4): Show c.4080G>A	p.Pro others(7): Show p.Pro1360Pro	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	42/48	4380/9984	4080/5073	1360/1690		chr2	TogoVar
COL4A4_chr2_226997714_227169205	227057605	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00408.hp2 HG00609.hp1 others(41): Show HG00140.hp1 HG00408.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG02056.hp1 HG02071.hp2 HG02451.hp2 HG02809.hp2 HG03017.hp1 HG03471.hp1 HG03491.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG04204.hp2 HG04228.hp2 NA18939.hp2 NA18952.hp1 NA18962.hp1 NA18975.hp1 NA18993.hp2 NA19000.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19082.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 homoSapiens_chm13v2.hp1	a0003 a0012 a0014 others(6): Show a0003 a0012 a0014 a0017 a0019 a0029 a0030 a0032 a0043	a0003c0003 a0003c0014 a0003c0026 others(11): Show a0003c0003 a0003c0014 a0003c0026 a0003c0027 a0003c0073 a0012c0011 a0014c0020 a0014c0052 a0017c0022 a0019c0025 a0029c0063 a0030c0062 a0032c0057 a0043c0036	a0003c0003t0003 a0003c0003t0030 a0003c0003t0031 others(14): Show a0003c0003t0003 a0003c0003t0030 a0003c0003t0031 a0003c0014t0002 a0003c0026t0001 a0003c0027t0003 a0003c0073t0003 a0012c0011t0003 a0014c0020t0001 a0014c0020t0003 a0014c0052t0003 a0017c0022t0003 a0019c0025t0002 a0029c0063t0003 a0030c0062t0003 a0032c0057t0002 a0043c0036t0038	a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0006 others(41): Show a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0006 a0003c0003t0003g0057 a0003c0003t0003g0071 a0003c0003t0003g0076 a0003c0003t0003g0084 a0003c0003t0003g0093 a0003c0003t0003g0099 a0003c0003t0003g0101 a0003c0003t0003g0116 a0003c0003t0003g0118 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0190 a0003c0003t0003g0223 a0003c0003t0003g0228 a0003c0003t0003g0241 a0003c0003t0003g0269 a0003c0003t0030g0169 a0003c0003t0031g0250 a0003c0014t0002g0069 a0003c0014t0002g0094 a0003c0014t0002g0242 a0003c0026t0001g0010 a0003c0027t0003g0096 a0003c0027t0003g0133 a0003c0073t0003g0018 a0012c0011t0003g0138 a0012c0011t0003g0219 a0012c0011t0003g0231 a0012c0011t0003g0233 a0014c0020t0001g0007 a0014c0020t0003g0103 a0014c0052t0003g0089 a0017c0022t0003g0254 a0017c0022t0003g0255 a0019c0025t0002g0198 a0019c0025t0002g0261 a0029c0063t0003g0082 a0030c0062t0003g0265 a0032c0057t0002g0220 a0043c0036t0038g0153	44	284	0.1549	0	c.238 others(6): Show c.2384-5T>C		COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	28/47					chr2	TogoVar
COL4A5_chrX_108434838_108702545	108677501	T T	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02630.hp1 HG02630.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0252 a0008c0014t0001g0252	1	269	0.0037	0	c.381 others(4): Show c.3810T>A	p.Gly others(7): Show p.Gly1270Gly	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	44/53	4098/6531	3810/5076	1270/1691		chrX	TogoVar
COL4A6_chrX_108150614_108443422	108159454	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp2 HG01884.hp2 HG01975.hp2 others(11): Show HG01081.hp2 HG01884.hp2 HG01975.hp2 HG01978.hp1 HG02109.hp2 HG02486.hp1 HG03471.hp1 HG06807.hp1 NA18522.hp1 NA18944.hp1 NA18957.hp2 NA18984.hp1 NA19007.hp1 NA19056.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0012 a0002c0003 others(3): Show a0001c0001 a0001c0012 a0002c0003 a0003c0004 a0006c0007 a0007c0026	a0001c0001t0002 a0001c0012t0002 a0002c0003t0002 others(4): Show a0001c0001t0002 a0001c0012t0002 a0002c0003t0002 a0002c0003t0005 a0003c0004t0005 a0006c0007t0001 a0007c0026t0002	a0001c0001t0002g0012 a0001c0001t0002g0071 a0001c0001t0002g0123 others(11): Show a0001c0001t0002g0012 a0001c0001t0002g0071 a0001c0001t0002g0123 a0001c0012t0002g0232 a0002c0003t0002g0003 a0002c0003t0002g0004 a0002c0003t0002g0023 a0002c0003t0002g0032 a0002c0003t0002g0034 a0002c0003t0002g0096 a0002c0003t0005g0030 a0003c0004t0005g0055 a0006c0007t0001g0018 a0007c0026t0002g0192	14	234	0.0598	0	c.481 others(6): Show c.4812+8C>T		COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	44/44					chrX	TogoVar
COL4A6_chrX_108150614_108443422	108172536	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0226 a0002c0002t0002g0226	1	234	0.0043	0	c.313 others(6): Show c.3139-4G>A		COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	31/44					chrX	TogoVar
COL4A6_chrX_108150614_108443422	108179444	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	234	0.0043	0	c.213 others(6): Show c.2132-6G>T		COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	25/44					chrX	TogoVar
COL4A6_chrX_108150614_108443422	108196503	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	234	0.0043	0	c.903 others(5): Show c.903+8C>T		COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	14/44					chrX	TogoVar
COL4A6_chrX_108150614_108443422	108205701	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	234	0.0043	0	c.610 others(5): Show c.610-6A>C		COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	9/44					chrX	TogoVar
COL4A6_chrX_108150614_108443422	108219699	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02486.hp1 HG03654.hp1 HG02486.hp1 HG03654.hp1	a0007 a0008 a0007 a0008	a0007c0026 a0008c0025 a0007c0026 a0008c0025	a0007c0026t0002 a0008c0025t0001 a0007c0026t0002 a0008c0025t0001	a0007c0026t0002g0192 a0008c0025t0001g0161 a0007c0026t0002g0192 a0008c0025t0001g0161	2	234	0.0086	0	c.323 others(3): Show c.323C>T	p.Pro others(6): Show p.Pro108Leu	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	5/45	549/6685	323/5073	108/1690		chrX	TogoVar
COL5A1_chr9_134636803_134849843	134732063	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0262 a0001c0003t0004g0262	1	272	0.0037	0	c.133 others(6): Show c.1333-8A>G		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	8/65					chr9	TogoVar
COL5A1_chr9_134636803_134849843	134738515	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01071.hp2 HG01081.hp1 HG01106.hp2 others(20): Show HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01943.hp1 HG02055.hp2 HG02109.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02622.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03453.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2	a0001 a0006 a0011 a0001 a0006 a0011	a0001c0006 a0001c0009 a0001c0018 others(8): Show a0001c0006 a0001c0009 a0001c0018 a0001c0019 a0001c0031 a0001c0032 a0001c0033 a0001c0036 a0001c0048 a0006c0034 a0011c0035	a0001c0006t0001 a0001c0006t0004 a0001c0006t0007 others(17): Show a0001c0006t0001 a0001c0006t0004 a0001c0006t0007 a0001c0006t0010 a0001c0006t0019 a0001c0006t0047 a0001c0006t0048 a0001c0009t0001 a0001c0009t0003 a0001c0009t0023 a0001c0018t0008 a0001c0019t0001 a0001c0019t0022 a0001c0031t0006 a0001c0032t0010 a0001c0033t0006 a0001c0036t0035 a0001c0048t0012 a0006c0034t0009 a0011c0035t0012	a0001c0006t0001g0108 a0001c0006t0004g0011 a0001c0006t0004g0184 others(20): Show a0001c0006t0001g0108 a0001c0006t0004g0011 a0001c0006t0004g0184 a0001c0006t0007g0103 a0001c0006t0010g0031 a0001c0006t0019g0264 a0001c0006t0047g0019 a0001c0006t0048g0047 a0001c0009t0001g0106 a0001c0009t0001g0198 a0001c0009t0003g0261 a0001c0009t0023g0263 a0001c0018t0008g0179 a0001c0018t0008g0182 a0001c0019t0001g0214 a0001c0019t0022g0231 a0001c0031t0006g0048 a0001c0032t0010g0238 a0001c0033t0006g0190 a0001c0036t0035g0045 a0001c0048t0012g0226 a0006c0034t0009g0193 a0011c0035t0012g0008	23	272	0.0846	0	c.143 others(4): Show c.1431G>A	p.Ala others(6): Show p.Ala477Ala	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	10/66	1816/8442	1431/5517	477/1838		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134738741	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(170): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18950.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19080.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0014	a0001c0001 a0001c0003 a0001c0004 others(45): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0001c0018 a0001c0019 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0001c0028 a0001c0031 a0001c0032 a0001c0033 a0001c0036 a0001c0039 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0051 a0001c0052 a0001c0064 a0002c0013 a0002c0041 a0002c0042 a0003c0020 a0003c0021 a0005c0063 a0006c0034 a0007c0066 a0008c0030 a0009c0054 a0011c0035 a0012c0043 a0014c0053	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(117): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0020 a0001c0001t0024 a0001c0001t0027 a0001c0001t0031 a0001c0001t0037 a0001c0001t0059 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0010 a0001c0003t0014 a0001c0003t0015 a0001c0003t0016 a0001c0003t0021 a0001c0003t0025 a0001c0003t0036 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0011 a0001c0004t0018 a0001c0004t0030 a0001c0004t0033 a0001c0005t0001 a0001c0005t0003 a0001c0005t0006 a0001c0005t0009 a0001c0005t0014 a0001c0005t0022 a0001c0005t0045 a0001c0005t0050 a0001c0005t0053 a0001c0005t0054 a0001c0006t0001 a0001c0006t0004 a0001c0006t0007 a0001c0006t0010 a0001c0006t0019 a0001c0006t0047 a0001c0006t0048 a0001c0007t0001 a0001c0007t0004 a0001c0007t0006 a0001c0007t0014 a0001c0007t0015 a0001c0007t0017 a0001c0007t0023 a0001c0009t0001 a0001c0009t0003 a0001c0009t0023 a0001c0010t0001 a0001c0010t0026 a0001c0011t0001 a0001c0012t0004 a0001c0012t0039 a0001c0012t0051 a0001c0014t0002 a0001c0015t0001 a0001c0015t0002 a0001c0015t0052 a0001c0016t0001 a0001c0016t0012 a0001c0016t0046 a0001c0018t0008 a0001c0019t0001 a0001c0019t0022 a0001c0022t0001 a0001c0022t0002 a0001c0023t0001 a0001c0023t0002 a0001c0024t0001 a0001c0024t0017 a0001c0025t0008 a0001c0025t0015 a0001c0026t0006 a0001c0026t0041 a0001c0028t0004 a0001c0031t0006 a0001c0032t0010 a0001c0033t0006 a0001c0036t0035 a0001c0039t0004 a0001c0045t0004 a0001c0046t0001 a0001c0047t0003 a0001c0048t0012 a0001c0049t0003 a0001c0050t0004 a0001c0051t0007 a0001c0052t0020 a0001c0064t0019 a0002c0013t0003 a0002c0013t0021 a0002c0041t0002 a0002c0042t0002 a0003c0020t0001 a0003c0021t0001 a0005c0063t0002 a0006c0034t0009 a0007c0066t0001 a0008c0030t0001 a0009c0054t0002 a0011c0035t0012 a0012c0043t0043 a0014c0053t0029	a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0041 others(169): Show a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0147 a0001c0001t0001g0212 a0001c0001t0002g0023 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0116 a0001c0001t0002g0122 a0001c0001t0002g0139 a0001c0001t0002g0165 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0220 a0001c0001t0002g0227 a0001c0001t0003g0133 a0001c0001t0003g0146 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0005g0055 a0001c0001t0005g0155 a0001c0001t0005g0249 a0001c0001t0006g0110 a0001c0001t0006g0129 a0001c0001t0007g0215 a0001c0001t0009g0109 a0001c0001t0009g0233 a0001c0001t0010g0098 a0001c0001t0011g0229 a0001c0001t0012g0242 a0001c0001t0020g0194 a0001c0001t0024g0216 a0001c0001t0024g0217 a0001c0001t0027g0210 a0001c0001t0031g0075 a0001c0001t0037g0053 a0001c0001t0059g0093 a0001c0003t0001g0153 a0001c0003t0001g0196 a0001c0003t0001g0205 a0001c0003t0001g0219 a0001c0003t0001g0222 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0002g0001 a0001c0003t0002g0142 a0001c0003t0002g0246 a0001c0003t0003g0201 a0001c0003t0003g0255 a0001c0003t0004g0038 a0001c0003t0004g0262 a0001c0003t0004g0266 a0001c0003t0005g0070 a0001c0003t0008g0078 a0001c0003t0010g0039 a0001c0003t0010g0259 a0001c0003t0014g0247 a0001c0003t0015g0188 a0001c0003t0016g0099 a0001c0003t0021g0169 a0001c0003t0025g0043 a0001c0003t0025g0218 a0001c0003t0036g0051 a0001c0004t0001g0013 a0001c0004t0001g0204 a0001c0004t0002g0046 a0001c0004t0002g0052 a0001c0004t0002g0132 a0001c0004t0002g0172 a0001c0004t0003g0145 a0001c0004t0004g0089 a0001c0004t0004g0224 a0001c0004t0011g0080 a0001c0004t0018g0029 a0001c0004t0018g0208 a0001c0004t0030g0253 a0001c0004t0033g0131 a0001c0005t0001g0107 a0001c0005t0003g0265 a0001c0005t0006g0040 a0001c0005t0009g0256 a0001c0005t0014g0258 a0001c0005t0022g0085 a0001c0005t0045g0267 a0001c0005t0050g0271 a0001c0005t0053g0105 a0001c0005t0054g0167 a0001c0006t0001g0108 a0001c0006t0004g0011 a0001c0006t0004g0184 a0001c0006t0007g0103 a0001c0006t0010g0031 a0001c0006t0019g0264 a0001c0006t0047g0019 a0001c0006t0048g0047 a0001c0007t0001g0195 a0001c0007t0004g0028 a0001c0007t0006g0002 a0001c0007t0014g0044 a0001c0007t0015g0200 a0001c0007t0017g0241 a0001c0007t0023g0232 a0001c0009t0001g0106 a0001c0009t0001g0198 a0001c0009t0003g0261 a0001c0009t0023g0263 a0001c0010t0001g0005 a0001c0010t0001g0006 a0001c0010t0026g0049 a0001c0011t0001g0191 a0001c0011t0001g0206 a0001c0012t0004g0112 a0001c0012t0039g0230 a0001c0012t0051g0086 a0001c0014t0002g0066 a0001c0014t0002g0067 a0001c0014t0002g0161 a0001c0015t0001g0268 a0001c0015t0002g0054 a0001c0015t0052g0016 a0001c0016t0001g0022 a0001c0016t0012g0021 a0001c0016t0046g0020 a0001c0018t0008g0179 a0001c0018t0008g0182 a0001c0019t0001g0214 a0001c0019t0022g0231 a0001c0022t0001g0181 a0001c0022t0002g0159 a0001c0023t0001g0014 a0001c0023t0002g0113 a0001c0024t0001g0207 a0001c0024t0017g0180 a0001c0025t0008g0203 a0001c0025t0015g0007 a0001c0026t0006g0101 a0001c0026t0041g0036 a0001c0028t0004g0213 a0001c0031t0006g0048 a0001c0032t0010g0238 a0001c0033t0006g0190 a0001c0036t0035g0045 a0001c0039t0004g0197 a0001c0045t0004g0104 a0001c0046t0001g0239 a0001c0047t0003g0032 a0001c0048t0012g0226 a0001c0049t0003g0183 a0001c0050t0004g0034 a0001c0051t0007g0202 a0001c0052t0020g0199 a0001c0064t0019g0010 a0002c0013t0003g0061 a0002c0013t0003g0076 a0002c0013t0021g0071 a0002c0041t0002g0164 a0002c0042t0002g0234 a0003c0020t0001g0120 a0003c0020t0001g0121 a0003c0021t0001g0157 a0003c0021t0001g0166 a0005c0063t0002g0072 a0006c0034t0009g0193 a0007c0066t0001g0235 a0008c0030t0001g0137 a0009c0054t0002g0141 a0011c0035t0012g0008 a0012c0043t0043g0037 a0014c0053t0029g0134	173	272	0.6360	0	c.143 others(6): Show c.1432-5T>C		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	10/65					chr9	TogoVar

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