Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL4A3_chr2_227159624_227319792	227202744	AAAATATA others(3): Show AAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00609.hp2 others(96): Show HG00280.hp2 HG00423.hp1 HG00609.hp2 HG00735.hp1 HG00738.hp1 HG01167.hp2 HG01169.hp1 HG01433.hp2 HG01516.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18971.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18990.hp1 NA18992.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19030.hp1 NA19057.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0018 a0026 a0027 a0029 a0031 a0032 a0037 a0038	a0001c0001 a0002c0004 a0002c0007 others(27): Show a0001c0001 a0002c0004 a0002c0007 a0003c0002 a0003c0011 a0003c0044 a0004c0003 a0005c0005 a0006c0010 a0006c0016 a0006c0034 a0007c0006 a0008c0009 a0009c0008 a0010c0014 a0010c0018 a0010c0051 a0012c0017 a0013c0015 a0014c0023 a0014c0037 a0015c0025 a0018c0028 a0026c0049 a0027c0048 a0029c0035 a0031c0038 a0032c0032 a0037c0056 a0038c0055	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0017 a0002c0004t0003 a0002c0004t0006 a0002c0004t0008 a0002c0007t0001 a0003c0002t0001 a0003c0002t0003 a0003c0011t0001 a0003c0011t0010 a0003c0044t0012 a0004c0003t0003 a0004c0003t0004 a0005c0005t0002 a0006c0010t0003 a0006c0010t0006 a0006c0016t0006 a0006c0034t0006 a0007c0006t0005 a0008c0009t0001 a0009c0008t0001 a0010c0014t0001 a0010c0018t0002 a0010c0051t0002 a0012c0017t0008 a0013c0015t0002 a0014c0023t0002 a0014c0037t0002 a0015c0025t0003 a0015c0025t0004 a0018c0028t0001 a0026c0049t0001 a0027c0048t0001 a0029c0035t0004 a0031c0038t0003 a0032c0032t0012 a0037c0056t0004 a0038c0055t0001	a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0131 others(96): Show a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0203 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0231 a0001c0001t0001g0279 a0001c0001t0001g0284 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0118 a0001c0001t0002g0135 a0001c0001t0002g0172 a0001c0001t0002g0180 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0002g0236 a0001c0001t0002g0301 a0001c0001t0002g0307 a0001c0001t0005g0051 a0001c0001t0007g0278 a0001c0001t0017g0209 a0002c0004t0003g0124 a0002c0004t0003g0125 a0002c0004t0003g0259 a0002c0004t0006g0234 a0002c0004t0008g0240 a0002c0004t0008g0246 a0002c0007t0001g0311 a0003c0002t0001g0229 a0003c0002t0003g0088 a0003c0002t0003g0089 a0003c0002t0003g0123 a0003c0002t0003g0136 a0003c0002t0003g0171 a0003c0002t0003g0174 a0003c0002t0003g0175 a0003c0002t0003g0237 a0003c0002t0003g0314 a0003c0011t0001g0260 a0003c0011t0010g0341 a0003c0044t0012g0047 a0004c0003t0003g0287 a0004c0003t0003g0288 a0004c0003t0004g0139 a0004c0003t0004g0192 a0004c0003t0004g0201 a0004c0003t0004g0221 a0004c0003t0004g0293 a0005c0005t0002g0197 a0005c0005t0002g0223 a0006c0010t0003g0245 a0006c0010t0006g0066 a0006c0016t0006g0267 a0006c0034t0006g0070 a0007c0006t0005g0017 a0007c0006t0005g0030 a0007c0006t0005g0087 a0007c0006t0005g0149 a0007c0006t0005g0169 a0007c0006t0005g0200 a0007c0006t0005g0210 a0007c0006t0005g0227 a0007c0006t0005g0283 a0007c0006t0005g0289 a0007c0006t0005g0297 a0007c0006t0005g0306 a0008c0009t0001g0193 a0008c0009t0001g0275 a0009c0008t0001g0077 a0009c0008t0001g0110 a0009c0008t0001g0208 a0009c0008t0001g0211 a0009c0008t0001g0265 a0009c0008t0001g0270 a0010c0014t0001g0164 a0010c0018t0002g0202 a0010c0051t0002g0145 a0012c0017t0008g0055 a0013c0015t0002g0074 a0013c0015t0002g0075 a0014c0023t0002g0338 a0014c0037t0002g0196 a0015c0025t0003g0206 a0015c0025t0004g0127 a0018c0028t0001g0013 a0026c0049t0001g0272 a0027c0048t0001g0141 a0029c0035t0004g0308 a0031c0038t0003g0103 a0032c0032t0012g0062 a0037c0056t0004g0009 a0038c0055t0001g0007	99	344	0.2878	-10	c.88- others(27): Show c.88-35222_88-35213delAATATATATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202746	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01884.hp1 HG02280.hp1 others(8): Show HG01106.hp2 HG01884.hp1 HG02280.hp1 HG02809.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03453.hp1 HG03453.hp2 NA19043.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0012 a0018 a0019 a0033	a0001c0042 a0002c0004 a0002c0007 others(7): Show a0001c0042 a0002c0004 a0002c0007 a0002c0027 a0003c0002 a0006c0010 a0012c0022 a0018c0028 a0019c0054 a0033c0030	a0001c0042t0015 a0002c0004t0003 a0002c0007t0003 others(7): Show a0001c0042t0015 a0002c0004t0003 a0002c0007t0003 a0002c0027t0012 a0003c0002t0006 a0006c0010t0006 a0012c0022t0001 a0018c0028t0003 a0019c0054t0010 a0033c0030t0011	a0001c0042t0015g0331 a0002c0004t0003g0091 a0002c0004t0003g0334 others(8): Show a0001c0042t0015g0331 a0002c0004t0003g0091 a0002c0004t0003g0334 a0002c0007t0003g0037 a0002c0027t0012g0011 a0003c0002t0006g0064 a0006c0010t0006g0063 a0012c0022t0001g0069 a0018c0028t0003g0012 a0019c0054t0010g0073 a0033c0030t0011g0043	11	344	0.0320	-10	c.88- others(27): Show c.88-35205_88-35196delATATATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202916	CATATATG others(3): Show CATATATGTGT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01496.hp1 HG02280.hp2 others(14): Show HG01106.hp1 HG01496.hp1 HG02280.hp2 HG02559.hp2 HG02698.hp1 HG02738.hp2 HG02818.hp1 HG02922.hp2 HG03209.hp1 HG03486.hp1 HG03540.hp1 HG03669.hp2 HG03927.hp1 NA20129.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0010 a0030	a0001c0001 a0002c0007 a0002c0026 others(6): Show a0001c0001 a0002c0007 a0002c0026 a0003c0011 a0003c0039 a0006c0010 a0006c0013 a0010c0018 a0030c0036	a0001c0001t0001 a0001c0001t0002 a0002c0007t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0002c0007t0001 a0002c0007t0003 a0002c0007t0010 a0002c0026t0014 a0003c0011t0009 a0003c0039t0010 a0006c0010t0006 a0006c0013t0001 a0006c0013t0009 a0010c0018t0002 a0030c0036t0011	a0001c0001t0001g0101 a0001c0001t0001g0134 a0001c0001t0002g0318 others(14): Show a0001c0001t0001g0101 a0001c0001t0001g0134 a0001c0001t0002g0318 a0002c0007t0001g0060 a0002c0007t0001g0068 a0002c0007t0003g0092 a0002c0007t0010g0336 a0002c0026t0014g0071 a0002c0026t0014g0146 a0003c0011t0009g0102 a0003c0039t0010g0005 a0006c0010t0006g0113 a0006c0013t0001g0329 a0006c0013t0009g0216 a0006c0013t0009g0226 a0010c0018t0002g0108 a0030c0036t0011g0044	17	344	0.0494	-10	c.88- others(27): Show c.88-35025_88-35016delGTGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202982	CATATGTG others(3): Show CATATGTGTAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01256.hp2 HG01934.hp1 others(7): Show HG00099.hp1 HG01256.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG02698.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 NA20752.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0002 a0004c0003 a0001c0001 a0003c0002 a0004c0003	a0001c0001t0001 a0003c0002t0003 a0004c0003t0019 a0001c0001t0001 a0003c0002t0003 a0004c0003t0019	a0001c0001t0001g0098 a0001c0001t0001g0138 a0001c0001t0001g0161 others(7): Show a0001c0001t0001g0098 a0001c0001t0001g0138 a0001c0001t0001g0161 a0003c0002t0003g0099 a0003c0002t0003g0107 a0003c0002t0003g0159 a0003c0002t0003g0160 a0003c0002t0003g0182 a0003c0002t0003g0312 a0004c0003t0019g0105	10	344	0.0291	-10	c.88- others(27): Show c.88-34971_88-34962delGTGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203008	CATATATG others(3): Show CATATATGTGT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp1 HG01516.hp2 others(8): Show HG00639.hp1 HG01099.hp1 HG01516.hp2 HG02451.hp2 HG02559.hp1 HG02896.hp2 HG02897.hp2 NA18906.hp2 NA18975.hp2 NA18979.hp2 NA19000.hp2	a0002 a0003 a0004 others(6): Show a0002 a0003 a0004 a0007 a0009 a0010 a0029 a0031 a0037	a0002c0004 a0003c0002 a0004c0003 others(6): Show a0002c0004 a0003c0002 a0004c0003 a0007c0006 a0009c0008 a0010c0051 a0029c0035 a0031c0038 a0037c0056	a0002c0004t0008 a0003c0002t0003 a0004c0003t0004 others(6): Show a0002c0004t0008 a0003c0002t0003 a0004c0003t0004 a0007c0006t0005 a0009c0008t0001 a0010c0051t0002 a0029c0035t0004 a0031c0038t0003 a0037c0056t0004	a0002c0004t0008g0240 a0002c0004t0008g0246 a0003c0002t0003g0174 others(8): Show a0002c0004t0008g0240 a0002c0004t0008g0246 a0003c0002t0003g0174 a0004c0003t0004g0254 a0004c0003t0004g0255 a0007c0006t0005g0297 a0009c0008t0001g0208 a0010c0051t0002g0145 a0029c0035t0004g0308 a0031c0038t0003g0103 a0037c0056t0004g0009	11	344	0.0320	-10	c.88- others(27): Show c.88-34943_88-34934delGTGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203036	CATATATG others(3): Show CATATATGTGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp2 HG02647.hp1 others(1): Show HG02257.hp2 HG02615.hp2 HG02647.hp1 NA20129.hp2	a0002 a0035 a0036 a0002 a0035 a0036	a0002c0004 a0035c0058 a0036c0057 a0002c0004 a0035c0058 a0036c0057	a0002c0004t0008 a0035c0058t0001 a0036c0057t0011 a0002c0004t0008 a0035c0058t0001 a0036c0057t0011	a0002c0004t0008g0332 a0002c0004t0008g0333 a0035c0058t0001g0008 others(1): Show a0002c0004t0008g0332 a0002c0004t0008g0333 a0035c0058t0001g0008 a0036c0057t0011g0006	4	344	0.0116	-10	c.88- others(27): Show c.88-34915_88-34906delGTGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203064	CATATATG others(3): Show CATATATGTGT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18945.hp2 NA18975.hp2 others(3): Show HG04204.hp2 NA18945.hp2 NA18975.hp2 NA18979.hp2 NA19000.hp2 NA19070.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0007 a0009	a0001c0001 a0003c0002 a0004c0003 others(2): Show a0001c0001 a0003c0002 a0004c0003 a0007c0006 a0009c0008	a0001c0001t0002 a0003c0002t0001 a0003c0002t0003 others(3): Show a0001c0001t0002 a0003c0002t0001 a0003c0002t0003 a0004c0003t0004 a0007c0006t0005 a0009c0008t0001	a0001c0001t0002g0300 a0003c0002t0001g0299 a0003c0002t0003g0174 others(3): Show a0001c0001t0002g0300 a0003c0002t0001g0299 a0003c0002t0003g0174 a0004c0003t0004g0192 a0007c0006t0005g0297 a0009c0008t0001g0208	6	344	0.0174	-10	c.88- others(27): Show c.88-34877_88-34868delGTGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203130	CATATATG others(3): Show CATATATGTGT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18522.hp1 HG03486.hp1 NA18522.hp1	a0002 a0003 a0002 a0003	a0002c0007 a0003c0044 a0002c0007 a0003c0044	a0002c0007t0010 a0003c0044t0012 a0002c0007t0010 a0003c0044t0012	a0002c0007t0010g0336 a0003c0044t0012g0047 a0002c0007t0010g0336 a0003c0044t0012g0047	2	344	0.0058	-10	c.88- others(27): Show c.88-34821_88-34812delGTGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203173	ATGTGTAT others(3): Show ATGTGTATATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00558.hp1 others(21): Show HG00280.hp1 HG00438.hp2 HG00558.hp1 HG00673.hp2 HG02071.hp2 HG02074.hp1 HG02132.hp1 HG02257.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG03225.hp2 NA18747.hp1 NA18957.hp2 NA18962.hp1 NA18968.hp2 NA18977.hp1 NA18980.hp1 NA19005.hp2 NA19030.hp2 NA19058.hp2 NA19060.hp2 NA20129.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0010 a0028 a0035 a0036	a0001c0001 a0002c0004 a0003c0002 others(9): Show a0001c0001 a0002c0004 a0003c0002 a0003c0011 a0004c0003 a0007c0006 a0008c0009 a0009c0008 a0010c0014 a0028c0041 a0035c0058 a0036c0057	a0001c0001t0001 a0001c0001t0003 a0002c0004t0008 others(11): Show a0001c0001t0001 a0001c0001t0003 a0002c0004t0008 a0003c0002t0003 a0003c0002t0006 a0003c0011t0022 a0004c0003t0003 a0007c0006t0005 a0008c0009t0001 a0009c0008t0001 a0010c0014t0002 a0028c0041t0001 a0035c0058t0001 a0036c0057t0011	a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0120 others(21): Show a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0198 a0001c0001t0001g0248 a0001c0001t0003g0274 a0002c0004t0008g0040 a0002c0004t0008g0332 a0002c0004t0008g0333 a0003c0002t0003g0137 a0003c0002t0006g0045 a0003c0011t0022g0001 a0004c0003t0003g0031 a0007c0006t0005g0199 a0007c0006t0005g0283 a0008c0009t0001g0106 a0009c0008t0001g0224 a0010c0014t0002g0086 a0010c0014t0002g0324 a0028c0041t0001g0335 a0035c0058t0001g0008 a0036c0057t0011g0006	24	344	0.0698	-10	c.88- others(27): Show c.88-34785_88-34776delGTGTGTATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203186	TGTATATA others(3): Show TGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02970.hp2 others(2): Show HG02257.hp1 HG02451.hp1 HG02970.hp2 HG03453.hp2 NA19043.hp2	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0007 a0012	a0002c0004 a0003c0002 a0005c0029 others(2): Show a0002c0004 a0003c0002 a0005c0029 a0007c0006 a0012c0022	a0002c0004t0018 a0003c0002t0001 a0005c0029t0015 others(2): Show a0002c0004t0018 a0003c0002t0001 a0005c0029t0015 a0007c0006t0005 a0012c0022t0001	a0002c0004t0018g0268 a0003c0002t0001g0054 a0005c0029t0015g0295 others(2): Show a0002c0004t0018g0268 a0003c0002t0001g0054 a0005c0029t0015g0295 a0007c0006t0005g0343 a0012c0022t0001g0069	5	344	0.0145	-10	c.88- others(27): Show c.88-34781_88-34772delGTATATATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203260	CATATATG others(3): Show CATATATGTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00673.hp1 others(38): Show HG00099.hp2 HG00558.hp2 HG00673.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01934.hp2 HG01978.hp1 HG02015.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02602.hp2 HG02886.hp1 HG03491.hp2 HG03669.hp1 HG03831.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18947.hp1 NA18968.hp1 NA18969.hp2 NA18977.hp2 NA18979.hp1 NA18992.hp1 NA18994.hp1 NA18995.hp2 NA19060.hp1 NA19065.hp2 NA19079.hp2 NA19083.hp1 NA19086.hp1 NA19088.hp1 NA20805.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0013 a0017 a0022 a0024	a0001c0001 a0002c0004 a0003c0002 others(14): Show a0001c0001 a0002c0004 a0003c0002 a0004c0003 a0005c0005 a0005c0020 a0006c0010 a0006c0013 a0007c0006 a0008c0009 a0010c0014 a0011c0012 a0011c0021 a0013c0015 a0017c0019 a0022c0052 a0024c0045	a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 others(18): Show a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 a0003c0002t0003 a0004c0003t0004 a0005c0005t0002 a0005c0005t0007 a0005c0005t0009 a0005c0020t0002 a0006c0010t0003 a0006c0013t0001 a0006c0013t0009 a0007c0006t0005 a0008c0009t0001 a0010c0014t0001 a0011c0012t0001 a0011c0021t0003 a0013c0015t0002 a0017c0019t0004 a0022c0052t0001 a0024c0045t0002	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 others(38): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0170 a0001c0001t0001g0230 a0001c0001t0001g0257 a0001c0001t0001g0292 a0001c0001t0002g0153 a0001c0001t0002g0163 a0001c0001t0002g0173 a0001c0001t0002g0228 a0002c0004t0001g0154 a0003c0002t0003g0207 a0004c0003t0004g0155 a0004c0003t0004g0256 a0004c0003t0004g0296 a0004c0003t0004g0302 a0005c0005t0002g0179 a0005c0005t0007g0157 a0005c0005t0009g0116 a0005c0020t0002g0078 a0005c0020t0002g0079 a0006c0010t0003g0095 a0006c0013t0001g0096 a0006c0013t0009g0041 a0007c0006t0005g0133 a0008c0009t0001g0195 a0008c0009t0001g0217 a0008c0009t0001g0241 a0008c0009t0001g0282 a0008c0009t0001g0315 a0010c0014t0001g0023 a0011c0012t0001g0189 a0011c0012t0001g0190 a0011c0012t0001g0321 a0011c0021t0003g0320 a0011c0021t0003g0323 a0013c0015t0002g0258 a0017c0019t0004g0181 a0022c0052t0001g0325 a0024c0045t0002g0076	41	344	0.1192	-10	c.88- others(27): Show c.88-34691_88-34682delGTGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203288	CATATATG others(3): Show CATATATGTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01256.hp2 HG01934.hp1 others(7): Show HG00099.hp1 HG01256.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG02698.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 NA20752.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0002 a0004c0003 a0001c0001 a0003c0002 a0004c0003	a0001c0001t0001 a0003c0002t0003 a0004c0003t0019 a0001c0001t0001 a0003c0002t0003 a0004c0003t0019	a0001c0001t0001g0098 a0001c0001t0001g0138 a0001c0001t0001g0161 others(7): Show a0001c0001t0001g0098 a0001c0001t0001g0138 a0001c0001t0001g0161 a0003c0002t0003g0099 a0003c0002t0003g0107 a0003c0002t0003g0159 a0003c0002t0003g0160 a0003c0002t0003g0182 a0003c0002t0003g0312 a0004c0003t0019g0105	10	344	0.0291	-10	c.88- others(27): Show c.88-34663_88-34654delGTGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203427	ATATATGT others(3): Show ATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18612.hp1 NA18954.hp1 others(3): Show NA18522.hp2 NA18612.hp1 NA18954.hp1 NA18975.hp2 NA18983.hp1 NA19000.hp2	a0003 a0007 a0009 a0003 a0007 a0009	a0003c0002 a0007c0006 a0009c0008 a0003c0002 a0007c0006 a0009c0008	a0003c0002t0001 a0003c0002t0003 a0007c0006t0005 others(1): Show a0003c0002t0001 a0003c0002t0003 a0007c0006t0005 a0009c0008t0001	a0003c0002t0001g0042 a0003c0002t0003g0174 a0003c0002t0003g0175 others(3): Show a0003c0002t0001g0042 a0003c0002t0003g0174 a0003c0002t0003g0175 a0003c0002t0003g0314 a0007c0006t0005g0289 a0009c0008t0001g0208	6	344	0.0174	-10	c.88- others(27): Show c.88-34531_88-34522delGTATATGTGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227208765	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03130.hp1 HG02895.hp1 HG02897.hp1 HG03130.hp1	a0002 a0003 a0002 a0003	a0002c0004 a0003c0002 a0002c0004 a0003c0002	a0002c0004t0013 a0003c0002t0006 a0002c0004t0013 a0003c0002t0006	a0002c0004t0013g0339 a0002c0004t0013g0340 a0003c0002t0006g0064 a0002c0004t0013g0339 a0002c0004t0013g0340 a0003c0002t0006g0064	3	344	0.0087	-10	c.88- others(27): Show c.88-29171_88-29162delCACACACACA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227218070	ATATATAT others(3): Show ATATATATAGC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02895.hp2 HG03540.hp1 others(3): Show HG02145.hp1 HG02895.hp2 HG03540.hp1 HG03579.hp1 NA19030.hp1 NA21309.hp1	a0002 a0006 a0018 a0002 a0006 a0018	a0002c0004 a0002c0007 a0006c0016 others(1): Show a0002c0004 a0002c0007 a0006c0016 a0018c0028	a0002c0004t0006 a0002c0007t0001 a0006c0016t0006 others(2): Show a0002c0004t0006 a0002c0007t0001 a0006c0016t0006 a0006c0016t0018 a0018c0028t0001	a0002c0004t0006g0234 a0002c0007t0001g0060 a0002c0007t0001g0068 others(3): Show a0002c0004t0006g0234 a0002c0007t0001g0060 a0002c0007t0001g0068 a0006c0016t0006g0267 a0006c0016t0018g0036 a0018c0028t0001g0013	6	344	0.0174	-10	c.88- others(27): Show c.88-19889_88-19880delGCTATATATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227252586	GCACACAC others(3): Show GCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0290 a0001c0001t0024g0290	1	344	0.0029	-10	c.646 others(25): Show c.646-684_646-675delACACACACAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	11/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227271461	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00639.hp1 others(41): Show HG00423.hp1 HG00558.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp2 HG01361.hp2 HG01975.hp1 HG02015.hp2 HG02074.hp2 HG02083.hp2 HG02135.hp2 HG02145.hp2 HG02451.hp2 HG02486.hp2 HG02630.hp2 HG02717.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18947.hp2 NA18948.hp1 NA18957.hp1 NA18965.hp2 NA18968.hp2 NA18990.hp2 NA18992.hp2 NA19030.hp1 NA19077.hp2 NA19084.hp2 NA19240.hp1 NA20300.hp2	a0002 a0003 a0004 others(6): Show a0002 a0003 a0004 a0006 a0012 a0015 a0017 a0029 a0037	a0002c0004 a0003c0002 a0004c0003 others(9): Show a0002c0004 a0003c0002 a0004c0003 a0006c0010 a0006c0016 a0006c0031 a0006c0034 a0012c0017 a0015c0025 a0017c0019 a0029c0035 a0037c0056	a0002c0004t0006 a0003c0002t0004 a0003c0002t0006 others(11): Show a0002c0004t0006 a0003c0002t0004 a0003c0002t0006 a0004c0003t0003 a0004c0003t0004 a0006c0010t0006 a0006c0016t0006 a0006c0031t0006 a0006c0034t0006 a0012c0017t0006 a0015c0025t0004 a0017c0019t0004 a0029c0035t0004 a0037c0056t0004	a0002c0004t0006g0039 a0002c0004t0006g0049 a0002c0004t0006g0053 others(41): Show a0002c0004t0006g0039 a0002c0004t0006g0049 a0002c0004t0006g0053 a0002c0004t0006g0234 a0003c0002t0004g0273 a0003c0002t0004g0281 a0003c0002t0006g0045 a0003c0002t0006g0064 a0004c0003t0003g0031 a0004c0003t0003g0251 a0004c0003t0003g0287 a0004c0003t0003g0288 a0004c0003t0004g0016 a0004c0003t0004g0028 a0004c0003t0004g0129 a0004c0003t0004g0132 a0004c0003t0004g0139 a0004c0003t0004g0155 a0004c0003t0004g0192 a0004c0003t0004g0201 a0004c0003t0004g0213 a0004c0003t0004g0250 a0004c0003t0004g0254 a0004c0003t0004g0255 a0004c0003t0004g0256 a0004c0003t0004g0271 a0004c0003t0004g0293 a0004c0003t0004g0296 a0004c0003t0004g0302 a0004c0003t0004g0304 a0004c0003t0004g0317 a0006c0010t0006g0058 a0006c0010t0006g0063 a0006c0010t0006g0066 a0006c0010t0006g0072 a0006c0010t0006g0156 a0006c0016t0006g0267 a0006c0031t0006g0081 a0006c0034t0006g0070 a0012c0017t0006g0003 a0015c0025t0004g0127 a0017c0019t0004g0181 a0029c0035t0004g0308 a0037c0056t0004g0009	44	344	0.1279	-10	c.175 others(27): Show c.1758+528_1758+537delTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	25/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227285277	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0022 a0003c0011t0022	a0003c0011t0022g0001 a0003c0011t0022g0001	1	344	0.0029	-10	c.288 others(27): Show c.2881+950_2881+959delAAAAAAAAAA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	34/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227302677	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19060.hp1 NA18969.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0230 a0001c0001t0001g0147 a0001c0001t0001g0230	2	344	0.0058	-10	c.388 others(27): Show c.3883-341_3883-332delAAAAAAAAAA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	43/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227318541	TACACACA others(3): Show TACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG03209.hp2 HG03540.hp2 others(1): Show HG02965.hp1 HG03209.hp2 HG03540.hp2 NA18906.hp2	a0002 a0003 a0019 others(1): Show a0002 a0003 a0019 a0037	a0002c0007 a0003c0011 a0019c0054 others(1): Show a0002c0007 a0003c0011 a0019c0054 a0037c0056	a0002c0007t0010 a0003c0011t0010 a0019c0054t0010 others(1): Show a0002c0007t0010 a0003c0011t0010 a0019c0054t0010 a0037c0056t0004	a0002c0007t0010g0052 a0003c0011t0010g0341 a0019c0054t0010g0073 others(1): Show a0002c0007t0010g0052 a0003c0011t0010g0341 a0019c0054t0010g0073 a0037c0056t0004g0009	4	344	0.0116	-10	c.66 others(21): Show c.6672_*6681delACACACACAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding		3750		chr2	TogoVar
COL4A4_chr2_226997714_227169205	227039160	AGTTTTGT others(3): Show AGTTTTGTTTT	A A	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0023 a0023	a0023c0039 a0023c0039	a0023c0039t0007 a0023c0039t0007	a0023c0039t0007g0012 a0023c0039t0007g0012	1	284	0.0035	-10	c.350 others(29): Show c.3505+2978_3505+2987delAAAACAAAAC	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041838	AAGAAAGA others(3): Show AAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03139.hp1 HG03130.hp1 HG03139.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0028 a0002c0002 a0008c0028	a0002c0002t0011 a0008c0028t0034 a0002c0002t0011 a0008c0028t0034	a0002c0002t0011g0222 a0008c0028t0034g0160 a0002c0002t0011g0222 a0008c0028t0034g0160	2	284	0.0070	-10	c.350 others(27): Show c.3505+300_3505+309delCTTTCTTTCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041858	GAAAGAAA others(3): Show GAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02132.hp2 HG02129.hp1 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0048 a0002c0002t0002g0051 a0002c0002t0002g0048 a0002c0002t0002g0051	2	284	0.0070	-10	c.350 others(27): Show c.3505+280_3505+289delTTCTTTCTTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227047731	CCACACAC others(3): Show CCACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02818.hp1 NA18906.hp1 others(1): Show HG02451.hp1 HG02818.hp1 NA18906.hp1 NA21309.hp1	a0020 a0035 a0036 a0020 a0035 a0036	a0020c0041 a0020c0054 a0035c0037 others(1): Show a0020c0041 a0020c0054 a0035c0037 a0036c0055	a0020c0041t0010 a0020c0054t0010 a0035c0037t0016 others(1): Show a0020c0041t0010 a0020c0054t0010 a0035c0037t0016 a0036c0055t0029	a0020c0041t0010g0028 a0020c0054t0010g0020 a0035c0037t0016g0003 others(1): Show a0020c0041t0010g0028 a0020c0054t0010g0020 a0035c0037t0016g0003 a0036c0055t0029g0174	4	284	0.0141	-10	c.321 others(27): Show c.3215-192_3215-183delTGTGTGTGTG	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	34/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227093290	TAAACAAA others(3): Show TAAACAAAACA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0038 a0038	a0038c0038 a0038c0038	a0038c0038t0005 a0038c0038t0005	a0038c0038t0005g0024 a0038c0038t0005g0024	1	284	0.0035	-10	c.136 others(27): Show c.1369+825_1369+834delTGTTTTGTTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	20/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227140875	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03453.hp1 NA19240.hp1 HG03209.hp2 HG03453.hp1 NA19240.hp1	a0002 a0004 a0002 a0004	a0002c0019 a0004c0004 a0002c0019 a0004c0004	a0002c0019t0005 a0004c0004t0005 a0002c0019t0005 a0004c0004t0005	a0002c0019t0005g0029 a0002c0019t0005g0166 a0004c0004t0005g0030 a0002c0019t0005g0029 a0002c0019t0005g0166 a0004c0004t0005g0030	3	284	0.0106	-10	c.115 others(25): Show c.115-647_115-638delTGTGTGTGTG	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	3/47			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108502258	AGTTTTGT others(3): Show AGTTTTGTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02523.hp1 HG04228.hp1 others(1): Show HG02055.hp1 HG02523.hp1 HG04228.hp1 NA19004.hp1	a0002 a0005 a0011 a0002 a0005 a0011	a0002c0004 a0005c0007 a0011c0010 a0002c0004 a0005c0007 a0011c0010	a0002c0004t0001 a0005c0007t0001 a0011c0010t0001 a0002c0004t0001 a0005c0007t0001 a0011c0010t0001	a0002c0004t0001g0263 a0005c0007t0001g0260 a0005c0007t0001g0262 others(1): Show a0002c0004t0001g0263 a0005c0007t0001g0260 a0005c0007t0001g0262 a0011c0010t0001g0261	4	269	0.0149	-10	c.82- others(27): Show c.82-37457_82-37448delGTTTTGTTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108570424	CAGTGTGC others(3): Show CAGTGTGCTAT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02818.hp2 HG03041.hp2 others(4): Show HG02723.hp2 HG02818.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp2 NA19030.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0035 a0002c0002t0001g0037 others(4): Show a0002c0002t0001g0011 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0268	7	269	0.0260	-10	c.385 others(25): Show c.385-987_385-978delGTGTGCTATA	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	6/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108645199	CAGAAGAA others(3): Show CAGAAGAAAGG	C C	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	269	0.0037	-10	c.324 others(31): Show c.3247-10130_3247-10121delGAAGAAAGGA	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	36/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108698347	GTTTGTTT others(3): Show GTTTGTTTTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01978.hp2 HG02055.hp1 others(52): Show HG01975.hp2 HG01978.hp2 HG02055.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG04228.hp1 NA18612.hp1 NA18941.hp1 NA18944.hp1 NA18951.hp1 NA18957.hp2 NA18960.hp1 NA18967.hp1 NA18969.hp1 NA18981.hp2 NA18984.hp1 NA18986.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19068.hp1 NA19085.hp1 NA19087.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp1	a0002 a0005 a0011 a0002 a0005 a0011	a0002c0002 a0002c0004 a0002c0009 others(2): Show a0002c0002 a0002c0004 a0002c0009 a0005c0007 a0011c0010	a0002c0002t0001 a0002c0002t0013 a0002c0004t0001 others(6): Show a0002c0002t0001 a0002c0002t0013 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0012 a0002c0009t0001 a0005c0007t0001 a0011c0010t0001	a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 others(52): Show a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0013g0031 a0002c0004t0001g0263 a0002c0004t0002g0071 a0002c0004t0002g0073 a0002c0004t0003g0042 a0002c0004t0012g0072 a0002c0009t0001g0009 a0005c0007t0001g0260 a0005c0007t0001g0262 a0011c0010t0001g0261	55	269	0.2045	-10	c.19 others(21): Show c.1970_*1979delTTTGTTTTGT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding		803		chrX	TogoVar
COL4A5_chrX_108434838_108702545	108699131	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	269	0.0037	-10	c.27 others(21): Show c.2754_*2763delTGTGTGTGTG	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding		1587		chrX	TogoVar
COL4A6_chrX_108150614_108443422	108172365	GAAAAAAA others(3): Show GAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp1 HG02895.hp1 others(4): Show HG01106.hp1 HG01884.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG03471.hp1 NA19030.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0005 a0003c0004t0004 a0003c0004t0005	a0003c0004t0004g0001 a0003c0004t0004g0002 a0003c0004t0004g0054 others(4): Show a0003c0004t0004g0001 a0003c0004t0004g0002 a0003c0004t0004g0054 a0003c0004t0004g0056 a0003c0004t0004g0057 a0003c0004t0004g0062 a0003c0004t0005g0055	7	234	0.0299	-10	c.320 others(26): Show c.3202+94_3202+103delTTTTTTTTTT	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	32/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108173461	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0189 a0002c0002t0001g0189	1	234	0.0043	-10	c.313 others(27): Show c.3139-939_3139-930delACACACACAC	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	31/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108309801	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03017.hp1 HG03927.hp1 others(5): Show HG02055.hp1 HG03017.hp1 HG03927.hp1 HG04228.hp1 NA18951.hp2 NA18959.hp1 NA18969.hp2 NA19057.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0016 a0001c0001 a0005c0016	a0001c0001t0001 a0001c0001t0002 a0005c0016t0001 a0001c0001t0001 a0001c0001t0002 a0005c0016t0001	a0001c0001t0001g0075 a0001c0001t0001g0104 a0001c0001t0001g0142 others(5): Show a0001c0001t0001g0075 a0001c0001t0001g0104 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0002g0008 a0005c0016t0001g0007	8	234	0.0342	-10	c.144 others(25): Show c.144+937_144+946delGTGTGTGTGT	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	3/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108343159	ATATATAG others(3): Show ATATATAGTGT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0045	1	234	0.0043	-10	c.64- others(27): Show c.64-32341_64-32332delACACTATATA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108403233	GCTCTCTC others(3): Show GCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02071.hp1 HG02080.hp2 others(5): Show HG01358.hp1 HG02071.hp1 HG02080.hp2 HG02155.hp1 HG02622.hp1 NA18957.hp2 NA18969.hp1 NA19057.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0002c0024 a0006c0007	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0002c0024t0008 a0006c0007t0001	a0001c0001t0001g0136 a0001c0001t0001g0202 a0002c0002t0001g0172 others(5): Show a0001c0001t0001g0136 a0001c0001t0001g0202 a0002c0002t0001g0172 a0002c0003t0001g0016 a0002c0003t0001g0029 a0002c0024t0008g0035 a0006c0007t0001g0018 a0006c0007t0001g0019	8	234	0.0342	-10	c.63+ others(27): Show c.63+34699_63+34708delAGAGAGAGAG	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL5A1_chr9_134636803_134849843	134669225	CCCTTCCC others(3): Show CCCTTCCCTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03195.hp2 HG03225.hp2 HG01884.hp1 HG03195.hp2 HG03225.hp2	a0001 a0001	a0001c0024 a0001c0051 a0001c0052 a0001c0024 a0001c0051 a0001c0052	a0001c0024t0017 a0001c0051t0007 a0001c0052t0020 a0001c0024t0017 a0001c0051t0007 a0001c0052t0020	a0001c0024t0017g0180 a0001c0051t0007g0202 a0001c0052t0020g0199 a0001c0024t0017g0180 a0001c0051t0007g0202 a0001c0052t0020g0199	3	272	0.0110	-10	c.110 others(29): Show c.110-21677_110-21668delTCCTTCCCTT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134669235	TCCTTCCC others(3): Show TCCTTCCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03688.hp1 HG03927.hp2 others(1): Show HG02145.hp1 HG03688.hp1 HG03927.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0008 others(1): Show a0001c0002 a0001c0007 a0001c0008 a0001c0015	a0001c0002t0001 a0001c0007t0017 a0001c0008t0003 others(1): Show a0001c0002t0001 a0001c0007t0017 a0001c0008t0003 a0001c0015t0052	a0001c0002t0001g0018 a0001c0007t0017g0241 a0001c0008t0003g0017 others(1): Show a0001c0002t0001g0018 a0001c0007t0017g0241 a0001c0008t0003g0017 a0001c0015t0052g0016	4	272	0.0147	-10	c.110 others(29): Show c.110-21628_110-21619delTCCCTTCCCT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134759467	GCACACAC others(3): Show GCACACACACC	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03098.hp1 HG03669.hp2 others(4): Show HG02572.hp2 HG03098.hp1 HG03669.hp2 HG03688.hp2 NA18983.hp1 NA19064.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0001c0015 a0001c0028	a0001c0001t0003 a0001c0001t0020 a0001c0001t0031 others(4): Show a0001c0001t0003 a0001c0001t0020 a0001c0001t0031 a0001c0003t0036 a0001c0007t0015 a0001c0015t0001 a0001c0028t0004	a0001c0001t0003g0146 a0001c0001t0020g0194 a0001c0001t0031g0075 others(4): Show a0001c0001t0003g0146 a0001c0001t0020g0194 a0001c0001t0031g0075 a0001c0003t0036g0051 a0001c0007t0015g0200 a0001c0015t0001g0268 a0001c0028t0004g0213	7	272	0.0257	-10	c.193 others(29): Show c.1935+1187_1935+1196delACACCCACAC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134760427	CCACACAT others(3): Show CCACACATGCA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01167.hp2 others(14): Show HG00140.hp1 HG00741.hp1 HG01167.hp2 HG01169.hp2 HG01891.hp1 HG02055.hp1 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02723.hp2 HG02735.hp2 HG03516.hp1 HG04199.hp1 HG04204.hp1 NA19043.hp1 NA19240.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0001c0031 a0001c0044 a0012c0043	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0003t0008 a0001c0003t0015 a0001c0004t0002 a0001c0004t0018 a0001c0006t0019 a0001c0007t0004 a0001c0007t0017 a0001c0012t0004 a0001c0012t0039 a0001c0012t0051 a0001c0031t0006 a0001c0044t0057 a0012c0043t0043	a0001c0001t0001g0147 a0001c0001t0004g0102 a0001c0001t0009g0233 others(14): Show a0001c0001t0001g0147 a0001c0001t0004g0102 a0001c0001t0009g0233 a0001c0003t0008g0187 a0001c0003t0015g0188 a0001c0004t0002g0046 a0001c0004t0018g0029 a0001c0004t0018g0208 a0001c0006t0019g0264 a0001c0007t0004g0028 a0001c0007t0017g0241 a0001c0012t0004g0112 a0001c0012t0039g0230 a0001c0012t0051g0086 a0001c0031t0006g0048 a0001c0044t0057g0042 a0012c0043t0043g0037	17	272	0.0625	-10	c.193 others(29): Show c.1936-1487_1936-1478delCACACATGCA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134760613	ACACACAC others(3): Show ACACACACACC	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03486.hp2 HG03225.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0052 a0001c0001 a0001c0052	a0001c0001t0010 a0001c0052t0020 a0001c0001t0010 a0001c0052t0020	a0001c0001t0010g0098 a0001c0052t0020g0199 a0001c0001t0010g0098 a0001c0052t0020g0199	2	272	0.0074	-10	c.193 others(29): Show c.1936-1304_1936-1295delACCCACACAC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134812757	GGAGTGTG others(3): Show GGAGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(18): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00741.hp1 HG01071.hp2 HG01167.hp1 HG01168.hp1 HG02055.hp2 HG02145.hp1 HG02451.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG04115.hp2 HG04199.hp1 NA18906.hp2 NA18995.hp1 NA19057.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0006 a0001c0007 others(10): Show a0001c0003 a0001c0006 a0001c0007 a0001c0011 a0001c0012 a0001c0016 a0001c0019 a0001c0046 a0001c0047 a0001c0050 a0001c0057 a0001c0058 a0002c0041	a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 others(17): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0016 a0001c0006t0001 a0001c0007t0017 a0001c0011t0001 a0001c0011t0003 a0001c0012t0004 a0001c0012t0039 a0001c0012t0051 a0001c0016t0012 a0001c0019t0001 a0001c0046t0001 a0001c0047t0003 a0001c0050t0004 a0001c0057t0002 a0001c0058t0002 a0002c0041t0002	a0001c0003t0001g0205 a0001c0003t0003g0201 a0001c0003t0004g0262 others(18): Show a0001c0003t0001g0205 a0001c0003t0003g0201 a0001c0003t0004g0262 a0001c0003t0007g0003 a0001c0003t0016g0099 a0001c0006t0001g0108 a0001c0007t0017g0241 a0001c0011t0001g0191 a0001c0011t0001g0206 a0001c0011t0003g0143 a0001c0012t0004g0112 a0001c0012t0039g0230 a0001c0012t0051g0086 a0001c0016t0012g0021 a0001c0019t0001g0214 a0001c0046t0001g0239 a0001c0047t0003g0032 a0001c0050t0004g0034 a0001c0057t0002g0024 a0001c0058t0002g0127 a0002c0041t0002g0164	21	272	0.0772	-10	c.385 others(25): Show c.3852+47_3852+56delAGTGTGTGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	48/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134826864	CTGGTGTA others(3): Show CTGGTGTATGT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0040 a0001c0005t0006g0040	1	272	0.0037	-10	c.506 others(27): Show c.5067+961_5067+970delTGGTGTATGT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	63/65			chr9	TogoVar
COL5A2_chr2_189026898_189184761	189038817	GTAGCTGG others(3): Show GTAGCTGGAAC	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0072 a0001c0019t0001g0072	1	248	0.0040	-10	c.392 others(27): Show c.3925+445_3925+454delGTTCCAGCTA	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	51/53			chr2	TogoVar
COL5A2_chr2_189026898_189184761	189055501	TTATAGAT others(3): Show TTATAGATTTG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0015 a0001c0026t0015	a0001c0026t0015g0003 a0001c0026t0015g0003	1	248	0.0040	-10	c.239 others(29): Show c.2392-1299_2392-1290delCAAATCTATA	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	35/53			chr2	TogoVar
COL5A2_chr2_189026898_189184761	189072824	GTGGATAT others(3): Show GTGGATATTTA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0153 a0001c0004t0006g0153	1	248	0.0040	-10	c.110 others(27): Show c.1105-741_1105-732delTAAATATCCA	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	17/53			chr2	TogoVar
COL5A2_chr2_189026898_189184761	189089944	TCAATTAA others(3): Show TCAATTAATAA	T T	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0019 a0006c0009t0001g0019	1	248	0.0040	-10	c.568 others(27): Show c.568-1182_568-1173delTTATTAATTG	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	7/53			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9958346	TATGGTAA others(3): Show TATGGTAATGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0071 a0071	a0071c0095 a0071c0095	a0071c0095t0002 a0071c0095t0002	a0071c0095t0002g0036 a0071c0095t0002g0036	1	412	0.0024	-10	c.20 others(21): Show c.2055_*2064delTCATTACCAT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding		1214		chr19	TogoVar
COL5A3_chr19_9954561_10015504	9964854	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02622.hp1 others(5): Show HG02145.hp1 HG02145.hp2 HG02622.hp1 HG02818.hp1 HG02922.hp1 HG02970.hp2 HG03486.hp2 NA19043.hp2	a0001 a0017 a0027 others(3): Show a0001 a0017 a0027 a0058 a0063 a0066	a0001c0033 a0001c0089 a0001c0142 others(5): Show a0001c0033 a0001c0089 a0001c0142 a0017c0026 a0027c0084 a0058c0132 a0063c0134 a0066c0106	a0001c0033t0011 a0001c0089t0001 a0001c0142t0001 others(5): Show a0001c0033t0011 a0001c0089t0001 a0001c0142t0001 a0017c0026t0002 a0027c0084t0012 a0058c0132t0020 a0063c0134t0001 a0066c0106t0002	a0001c0033t0011g0168 a0001c0089t0001g0225 a0001c0142t0001g0284 others(5): Show a0001c0033t0011g0168 a0001c0089t0001g0225 a0001c0142t0001g0284 a0017c0026t0002g0391 a0027c0084t0012g0167 a0058c0132t0020g0208 a0063c0134t0001g0304 a0066c0106t0002g0043	8	412	0.0194	-10	c.478 others(29): Show c.4782+1450_4782+1459delTTTTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	64/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9965714	AAAGTGCT others(3): Show AAAGTGCTGGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18959.hp2 NA18990.hp2 others(1): Show HG00408.hp1 NA18959.hp2 NA18990.hp2 NA19012.hp2	a0002 a0051 a0002 a0051	a0002c0002 a0002c0034 a0051c0127 a0002c0002 a0002c0034 a0051c0127	a0002c0002t0002 a0002c0034t0002 a0051c0127t0003 a0002c0002t0002 a0002c0034t0002 a0051c0127t0003	a0002c0002t0002g0310 a0002c0002t0002g0342 a0002c0034t0002g0258 others(1): Show a0002c0002t0002g0310 a0002c0002t0002g0342 a0002c0034t0002g0258 a0051c0127t0003g0252	4	412	0.0097	-10	c.478 others(27): Show c.4782+590_4782+599delCCCAGCACTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	64/66			chr19	TogoVar

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Search Results (Total: 10000 hits)