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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
COL26A1_chr7_101357875_101564024	101463868	C C	CCTTTCTT others(17): Show CCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0104 a0002c0004t0001g0104	1	174	0.0058	24	c.385 others(43): Show c.385+16081_385+16082insCTTTCTTTCTTTCTTTCTTTCTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12			chr7	TogoVar
COL26A1_chr7_101357875_101564024	101489756	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	174	0.0058	24	c.385 others(43): Show c.385+42110_385+42133dupTCTTTCTTTCTTTCTTTCTTTCTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101510027	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02897.hp2 HG02922.hp2 others(6): Show HG02257.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03486.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp2 NA19240.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0005 a0002c0003 a0002c0004 others(1): Show a0001c0005 a0002c0003 a0002c0004 a0007c0019	a0001c0005t0002 a0001c0005t0008 a0001c0005t0023 others(3): Show a0001c0005t0002 a0001c0005t0008 a0001c0005t0023 a0002c0003t0026 a0002c0004t0001 a0007c0019t0028	a0001c0005t0002g0160 a0001c0005t0008g0085 a0001c0005t0023g0116 others(6): Show a0001c0005t0002g0160 a0001c0005t0008g0085 a0001c0005t0023g0116 a0002c0003t0026g0107 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0148 a0002c0004t0001g0150 a0007c0019t0028g0162	9	174	0.0517	24	c.386 others(43): Show c.386-23041_386-23040insTTTTTTTTTTTTTTTTTTTTTTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101520633	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0146 a0001c0005t0012g0146	1	174	0.0058	24	c.386 others(43): Show c.386-12442_386-12419dupACACACACACACACACACACACAC	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL27A1_chr9_114150537_114317511	114166368	A A	AATCCATC others(17): Show AATCCATCCATCCGTCCATCCATCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03579.hp1 NA19240.hp1 HG03209.hp1 HG03579.hp1 NA19240.hp1	a0005 a0028 a0005 a0028	a0005c0030 a0005c0064 a0028c0065 a0005c0030 a0005c0064 a0028c0065	a0005c0030t0003 a0005c0064t0003 a0028c0065t0006 a0005c0030t0003 a0005c0064t0003 a0028c0065t0006	a0005c0030t0003g0025 a0005c0064t0003g0013 a0028c0065t0006g0012 a0005c0030t0003g0025 a0005c0064t0003g0013 a0028c0065t0006g0012	3	308	0.0097	24	c.134 others(41): Show c.134-1309_134-1308insGTCCATCCATCCATCCATCCATCC	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	2/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL27A1_chr9_114150537_114317511	114166444	T T	TATCCATC others(17): Show TATCCATCCATCCATCCGTCCATCC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0061 a0008c0007t0001g0061	1	308	0.0033	24	c.134 others(41): Show c.134-1229_134-1228insGTCCATCCATCCATCCATCCATCC	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	2/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL27A1_chr9_114150537_114317511	114253295	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01433.hp2 others(13): Show HG01256.hp2 HG01258.hp2 HG01433.hp2 HG01934.hp2 HG01981.hp2 HG01993.hp1 HG02080.hp1 HG02145.hp2 HG02148.hp1 HG02717.hp1 NA18954.hp2 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA19000.hp2 NA19090.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0007 a0008 a0011 a0012 a0016 a0019	a0001c0142 a0002c0001 a0002c0038 others(12): Show a0001c0142 a0002c0001 a0002c0038 a0002c0041 a0003c0005 a0003c0019 a0004c0020 a0007c0011 a0007c0012 a0008c0059 a0011c0069 a0011c0113 a0012c0154 a0016c0023 a0019c0027	a0001c0142t0003 a0002c0001t0004 a0002c0038t0007 others(12): Show a0001c0142t0003 a0002c0001t0004 a0002c0038t0007 a0002c0041t0004 a0003c0005t0004 a0003c0019t0002 a0004c0020t0003 a0007c0011t0010 a0007c0012t0005 a0008c0059t0007 a0011c0069t0031 a0011c0113t0005 a0012c0154t0002 a0016c0023t0018 a0019c0027t0005	a0001c0142t0003g0123 a0002c0001t0004g0301 a0002c0038t0007g0075 others(13): Show a0001c0142t0003g0123 a0002c0001t0004g0301 a0002c0038t0007g0075 a0002c0041t0004g0154 a0003c0005t0004g0255 a0003c0019t0002g0295 a0004c0020t0003g0256 a0007c0011t0010g0296 a0007c0012t0005g0262 a0008c0059t0007g0022 a0011c0069t0031g0161 a0011c0113t0005g0053 a0012c0154t0002g0009 a0016c0023t0018g0179 a0019c0027t0005g0019 a0019c0027t0005g0020	16	308	0.0520	24	c.314 others(41): Show c.3141+365_3141+388dupAAGAAAGAAAGAAAGAAAGAAAGA	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	27/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL3A1_chr2_188969373_189017746	188972936	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19082.hp1 NA19057.hp2 NA19082.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0010 a0002c0002 a0006c0010	a0002c0002t0001 a0006c0010t0001 a0002c0002t0001 a0006c0010t0001	a0002c0002t0001g0320 a0006c0010t0001g0314 a0002c0002t0001g0320 a0006c0010t0001g0314	2	376	0.0053	24	c.-15 others(35): Show c.-1554_-1553insAAAAAAAAAAAAAAAAAAAAAAAA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding		1436		chr2	TogoVar
COL4A1_chr13_110143963_110312157	110170133	G G	GGAAAGAA others(17): Show GGAAAGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02723.hp2 HG02970.hp1 others(1): Show HG01884.hp2 HG02723.hp2 HG02970.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0015 a0002c0018 a0001c0006 a0002c0015 a0002c0018	a0001c0006t0001 a0002c0015t0001 a0002c0018t0001 a0001c0006t0001 a0002c0015t0001 a0002c0018t0001	a0001c0006t0001g0008 a0002c0015t0001g0199 a0002c0015t0001g0241 others(1): Show a0001c0006t0001g0008 a0002c0015t0001g0199 a0002c0015t0001g0241 a0002c0018t0001g0224	4	344	0.0116	24	c.374 others(41): Show c.3743-372_3743-371insTTTCCTTCCTTCCTTCCTTCTTTC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	42/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110219688	A A	ATGTATAT others(17): Show ATGTATATATATATGTATATATATG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0004 a0004	a0004c0074 a0004c0074	a0004c0074t0001 a0004c0074t0001	a0004c0074t0001g0009 a0004c0074t0001g0009	1	344	0.0029	24	c.145 others(41): Show c.145-5674_145-5673insCATATATATACATATATATATACA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255614	G G	GAGGGGGC others(17): Show GAGGGGGCAGGCAGGCAGGAAGGGA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0212 a0003c0014t0001g0212	1	344	0.0029	24	c.85- others(41): Show c.85-12904_85-12881dupTCCCTTCCTGCCTGCCTGCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385467	G G	GCCGTGGT others(17): Show GCCGTGGTTACAGTGCGTGGATAGA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0061 a0001c0003t0003g0061	1	372	0.0027	24	c.180 others(43): Show c.180+27929_180+27930insCGTGGATAGACCGTGGTTACAGTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385572	G G	GCAGTGTG others(17): Show GCAGTGTGTGGATAGGCCGTGGTTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02451.hp1 others(6): Show HG02055.hp2 HG02258.hp2 HG02451.hp1 HG02630.hp2 HG02723.hp2 HG03130.hp1 HG03209.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0018 a0021	a0001c0046 a0002c0013 a0002c0064 others(6): Show a0001c0046 a0002c0013 a0002c0064 a0002c0073 a0002c0121 a0002c0122 a0003c0071 a0018c0049 a0021c0053	a0001c0046t0034 a0002c0013t0008 a0002c0064t0009 others(6): Show a0001c0046t0034 a0002c0013t0008 a0002c0064t0009 a0002c0073t0002 a0002c0121t0016 a0002c0122t0003 a0003c0071t0001 a0018c0049t0031 a0021c0053t0007	a0001c0046t0034g0007 a0002c0013t0008g0006 a0002c0064t0009g0170 others(6): Show a0001c0046t0034g0007 a0002c0013t0008g0006 a0002c0064t0009g0170 a0002c0073t0002g0213 a0002c0121t0016g0238 a0002c0122t0003g0020 a0003c0071t0001g0209 a0018c0049t0031g0045 a0021c0053t0007g0241	9	372	0.0242	24	c.180 others(43): Show c.180+28042_180+28065dupTTACAGTGTGTGGATAGGCCGTGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385596	A A	ACAGTGTG others(17): Show ACAGTGTGTGGATAGGCCGTGGTTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(134): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02135.hp1 HG02155.hp2 HG02257.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02809.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03669.hp1 HG03688.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18971.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18991.hp2 NA18992.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19074.hp2 NA19079.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0011 a0014 a0015 a0016 a0023 a0024 a0025	a0001c0001 a0001c0002 a0001c0003 others(51): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0022 a0001c0028 a0001c0029 a0001c0037 a0001c0045 a0001c0046 a0001c0047 a0001c0074 a0001c0077 a0001c0101 a0001c0114 a0001c0119 a0002c0006 a0002c0013 a0002c0017 a0002c0019 a0002c0035 a0002c0063 a0002c0086 a0002c0120 a0003c0007 a0003c0010 a0003c0018 a0003c0039 a0003c0040 a0003c0070 a0003c0112 a0004c0009 a0004c0012 a0004c0089 a0005c0020 a0005c0043 a0006c0033 a0007c0031 a0007c0059 a0007c0060 a0010c0036 a0011c0032 a0014c0108 a0015c0109 a0016c0048 a0023c0099 a0024c0076 a0025c0103	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(99): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0023 a0001c0001t0046 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0003t0002 a0001c0003t0003 a0001c0003t0017 a0001c0003t0044 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0005t0001 a0001c0005t0002 a0001c0008t0001 a0001c0008t0002 a0001c0008t0003 a0001c0008t0004 a0001c0008t0011 a0001c0011t0003 a0001c0011t0013 a0001c0014t0001 a0001c0014t0006 a0001c0014t0026 a0001c0015t0002 a0001c0016t0001 a0001c0016t0003 a0001c0016t0007 a0001c0022t0018 a0001c0022t0019 a0001c0028t0001 a0001c0028t0002 a0001c0029t0001 a0001c0037t0020 a0001c0045t0003 a0001c0046t0009 a0001c0047t0002 a0001c0074t0014 a0001c0077t0005 a0001c0101t0019 a0001c0114t0010 a0001c0119t0032 a0002c0006t0001 a0002c0006t0003 a0002c0006t0004 a0002c0006t0005 a0002c0006t0006 a0002c0013t0002 a0002c0013t0005 a0002c0013t0043 a0002c0017t0002 a0002c0017t0003 a0002c0019t0002 a0002c0019t0037 a0002c0035t0003 a0002c0035t0012 a0002c0063t0007 a0002c0086t0002 a0002c0120t0007 a0003c0007t0001 a0003c0007t0005 a0003c0007t0008 a0003c0010t0004 a0003c0010t0006 a0003c0010t0008 a0003c0018t0004 a0003c0018t0005 a0003c0018t0006 a0003c0039t0008 a0003c0040t0002 a0003c0070t0005 a0003c0112t0006 a0004c0009t0001 a0004c0012t0001 a0004c0012t0002 a0004c0012t0004 a0004c0089t0005 a0005c0020t0002 a0005c0020t0006 a0005c0043t0001 a0006c0033t0012 a0007c0031t0009 a0007c0059t0024 a0007c0060t0015 a0010c0036t0021 a0011c0032t0002 a0014c0108t0002 a0015c0109t0002 a0016c0048t0005 a0023c0099t0006 a0024c0076t0003 a0025c0103t0004	a0001c0001t0001g0195 a0001c0001t0001g0231 a0001c0001t0003g0063 others(134): Show a0001c0001t0001g0195 a0001c0001t0001g0231 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0098 a0001c0001t0003g0124 a0001c0001t0004g0348 a0001c0001t0005g0154 a0001c0001t0006g0083 a0001c0001t0010g0033 a0001c0001t0010g0035 a0001c0001t0023g0329 a0001c0001t0046g0283 a0001c0002t0001g0152 a0001c0002t0001g0193 a0001c0002t0002g0286 a0001c0002t0003g0051 a0001c0002t0003g0067 a0001c0002t0003g0127 a0001c0002t0003g0136 a0001c0002t0004g0292 a0001c0002t0005g0158 a0001c0002t0005g0215 a0001c0002t0005g0216 a0001c0002t0008g0012 a0001c0003t0002g0267 a0001c0003t0002g0296 a0001c0003t0002g0333 a0001c0003t0002g0340 a0001c0003t0002g0341 a0001c0003t0002g0353 a0001c0003t0003g0049 a0001c0003t0003g0056 a0001c0003t0003g0065 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0017g0245 a0001c0003t0044g0242 a0001c0004t0001g0099 a0001c0004t0001g0150 a0001c0004t0002g0359 a0001c0004t0003g0140 a0001c0004t0004g0278 a0001c0004t0004g0354 a0001c0004t0004g0355 a0001c0004t0004g0356 a0001c0004t0004g0357 a0001c0005t0001g0184 a0001c0005t0002g0297 a0001c0005t0002g0332 a0001c0008t0001g0149 a0001c0008t0001g0222 a0001c0008t0002g0344 a0001c0008t0003g0081 a0001c0008t0004g0282 a0001c0008t0011g0011 a0001c0011t0003g0125 a0001c0011t0013g0105 a0001c0011t0013g0220 a0001c0011t0013g0255 a0001c0014t0001g0146 a0001c0014t0006g0095 a0001c0014t0026g0156 a0001c0015t0002g0343 a0001c0016t0001g0109 a0001c0016t0003g0094 a0001c0016t0007g0159 a0001c0016t0007g0219 a0001c0022t0018g0173 a0001c0022t0019g0130 a0001c0028t0001g0167 a0001c0028t0002g0304 a0001c0029t0001g0161 a0001c0037t0020g0069 a0001c0045t0003g0021 a0001c0046t0009g0171 a0001c0047t0002g0310 a0001c0074t0014g0043 a0001c0077t0005g0236 a0001c0101t0019g0129 a0001c0114t0010g0030 a0001c0119t0032g0005 a0002c0006t0001g0114 a0002c0006t0003g0084 a0002c0006t0004g0272 a0002c0006t0005g0110 a0002c0006t0005g0157 a0002c0006t0006g0066 a0002c0006t0006g0090 a0002c0013t0002g0265 a0002c0013t0005g0036 a0002c0013t0043g0016 a0002c0017t0002g0300 a0002c0017t0002g0316 a0002c0017t0003g0126 a0002c0019t0002g0303 a0002c0019t0037g0026 a0002c0035t0003g0142 a0002c0035t0012g0328 a0002c0063t0007g0147 a0002c0086t0002g0279 a0002c0120t0007g0029 a0003c0007t0001g0031 a0003c0007t0005g0221 a0003c0007t0008g0038 a0003c0010t0004g0268 a0003c0010t0006g0134 a0003c0010t0008g0010 a0003c0018t0004g0309 a0003c0018t0005g0116 a0003c0018t0005g0117 a0003c0018t0006g0145 a0003c0039t0008g0027 a0003c0040t0002g0261 a0003c0070t0005g0226 a0003c0112t0006g0068 a0004c0009t0001g0111 a0004c0012t0001g0199 a0004c0012t0002g0277 a0004c0012t0004g0299 a0004c0089t0005g0187 a0005c0020t0002g0271 a0005c0020t0006g0097 a0005c0043t0001g0137 a0006c0033t0012g0336 a0007c0031t0009g0042 a0007c0059t0024g0252 a0007c0060t0015g0264 a0010c0036t0021g0319 a0010c0036t0021g0320 a0011c0032t0002g0302 a0014c0108t0002g0323 a0015c0109t0002g0321 a0016c0048t0005g0206 a0023c0099t0006g0058 a0024c0076t0003g0076 a0025c0103t0004g0301	137	372	0.3683	24	c.180 others(43): Show c.180+28065_180+28066insTTGCAGTGTGTGGATAGGCCGTGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385638	G G	GTGGTTAC others(17): Show GTGGTTACAGTGTGTGGATAGGCCA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0263 a0003c0007t0002g0263	1	372	0.0027	24	c.180 others(43): Show c.180+28089_180+28090insTTACAGTGTGTGGATAGGCCATGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385744	T T	TGTGTGGA others(17): Show TGTGTGGATAGGCCGTGGTTACAGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0017 a0017	a0017c0061 a0017c0061	a0017c0061t0011 a0017c0061t0011	a0017c0061t0011g0039 a0017c0061t0011g0039	1	372	0.0027	24	c.180 others(43): Show c.180+28193_180+28194insTGTGGATAGGCCGTGGTTACAGCG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385917	G G	GGATAGGC others(17): Show GGATAGGCCGTGGTTACAGCATGTC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02155.hp1 HG03704.hp1 others(3): Show HG02040.hp2 HG02155.hp1 HG03704.hp1 NA18612.hp1 NA19007.hp2 NA19011.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0092 others(1): Show a0001c0001 a0001c0003 a0002c0092 a0004c0009	a0001c0001t0003 a0001c0003t0001 a0001c0003t0003 others(2): Show a0001c0001t0003 a0001c0003t0001 a0001c0003t0003 a0002c0092t0001 a0004c0009t0003	a0001c0001t0003g0091 a0001c0003t0001g0165 a0001c0003t0003g0061 others(3): Show a0001c0001t0003g0091 a0001c0003t0001g0165 a0001c0003t0003g0061 a0002c0092t0001g0230 a0004c0009t0003g0062 a0004c0009t0003g0078	6	372	0.0161	24	c.180 others(43): Show c.180+28368_180+28369insAGGCCGTGGTTACAGCATGTCGAT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385941	G G	GGATAGGC others(17): Show GGATAGGCCGTGGTTACAGCATGTC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0276 a0001c0008t0002g0276	1	372	0.0027	24	c.180 others(43): Show c.180+28392_180+28393insAGGCCGTGGTTACAGCATGTCGAT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385969	G G	GGGCCGTG others(17): Show GGGCCGTGGTTACAGCGTGTGGATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0004 a0003c0010t0004	a0003c0010t0004g0351 a0003c0010t0004g0351	1	372	0.0027	24	c.180 others(43): Show c.180+28426_180+28427insTACAGCGTGTGGATAGGCCGTGGT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110509245	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0167 a0001c0028t0001g0167	1	372	0.0027	24	c.488 others(43): Show c.4881+1027_4881+1050dupTATATATATATATATATATATATA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	47/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110509270	T T	TATATACA others(17): Show TATATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0026 a0001c0014t0026	a0001c0014t0026g0156 a0001c0014t0026g0156	1	372	0.0027	24	c.488 others(43): Show c.4881+1050_4881+1051insTATACACACACACACACACACACA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	47/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227193739	G G	GGGAAGAA others(17): Show GGGAAGAAGGGAGGGAGGGAGGGAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02523.hp2 HG02486.hp1 HG02523.hp2	a0006 a0009 a0006 a0009	a0006c0016 a0009c0008 a0006c0016 a0009c0008	a0006c0016t0001 a0009c0008t0001 a0006c0016t0001 a0009c0008t0001	a0006c0016t0001g0225 a0009c0008t0001g0211 a0006c0016t0001g0225 a0009c0008t0001g0211	2	344	0.0058	24	c.87+ others(41): Show c.87+28929_87+28930insAGAAGGGAGGGAGGGAGGGAAGGA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202763	A A	ATCATATA others(17): Show ATCATATATATATTATATATATATG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0046 a0002c0004t0008g0046	1	344	0.0029	24	c.88- others(41): Show c.88-35204_88-35203insCATATATATATTATATATATATGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202979	A A	ATGTGTAT others(17): Show ATGTGTATATATGTGTATATATGTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18971.hp2 NA19010.hp2 HG01361.hp1 NA18971.hp2 NA19010.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0005c0005t0001 a0001c0001t0002 a0005c0005t0001	a0001c0001t0002g0344 a0005c0005t0001g0176 a0005c0005t0001g0177 a0001c0001t0002g0344 a0005c0005t0001g0176 a0005c0005t0001g0177	3	344	0.0087	24	c.88- others(41): Show c.88-34988_88-34987insGTGTATATATGTGTATATATGTGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202982	C C	CACATATA others(17): Show CACATATATGTGTATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0019 a0017c0019t0019	a0017c0019t0019g0178 a0017c0019t0019g0178	1	344	0.0029	24	c.88- others(41): Show c.88-34985_88-34984insCATATATGTGTATATATGTGTATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203363	A A	ACACACAT others(17): Show ACACACATATGTGTATATATGTGTG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0083 a0005c0005t0002g0083	1	344	0.0029	24	c.88- others(41): Show c.88-34605_88-34604insCACACATATGTGTATATATGTGTG	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227211649	T T	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03486.hp2 HG02055.hp2 HG03486.hp2	a0006 a0012 a0006 a0012	a0006c0034 a0012c0022 a0006c0034 a0012c0022	a0006c0034t0006 a0012c0022t0001 a0006c0034t0006 a0012c0022t0001	a0006c0034t0006g0070 a0012c0022t0001g0004 a0006c0034t0006g0070 a0012c0022t0001g0004	2	344	0.0058	24	c.88- others(41): Show c.88-26316_88-26293dupTATTTATTTATTTATTTATTTATT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227218080	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	344	0.0029	24	c.88- others(41): Show c.88-19866_88-19865insTATATATATATATATATATATATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249212	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0083 a0005c0005t0002g0083	1	344	0.0029	24	c.546 others(39): Show c.546+711_546+712insATATATATATATATATATATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(17): Show ATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0237 a0003c0002t0003g0237	1	344	0.0029	24	c.546 others(39): Show c.546+711_546+712insATATATATATATATTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03579.hp1 NA21309.hp1 HG02723.hp1 HG03579.hp1 NA21309.hp1	a0002 a0003 a0018 a0002 a0003 a0018	a0002c0007 a0003c0011 a0018c0028 a0002c0007 a0003c0011 a0018c0028	a0002c0007t0001 a0003c0011t0022 a0018c0028t0001 a0002c0007t0001 a0003c0011t0022 a0018c0028t0001	a0002c0007t0001g0060 a0003c0011t0022g0001 a0018c0028t0001g0013 a0002c0007t0001g0060 a0003c0011t0022g0001 a0018c0028t0001g0013	3	344	0.0087	24	c.546 others(39): Show c.546+711_546+712insATATATATATATTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227274238	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	344	0.0029	24	c.192 others(43): Show c.1927+1134_1927+1157dupAAATAAATAAATAAATAAATAAAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	26/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227031040	C C	CGGATGGA others(17): Show CGGATGGATGGATGGATGGATGGAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA21309.hp1 HG02451.hp1 NA21309.hp1	a0020 a0035 a0020 a0035	a0020c0054 a0035c0037 a0020c0054 a0035c0037	a0020c0054t0010 a0035c0037t0016 a0020c0054t0010 a0035c0037t0016	a0020c0054t0010g0020 a0035c0037t0016g0003 a0020c0054t0010g0020 a0035c0037t0016g0003	2	284	0.0070	24	c.381 others(41): Show c.3818-443_3818-442insATCCATCCATCCATCCATCCATCC	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	40/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227031041	A A	AGATGGAT others(17): Show AGATGGATGGATGGATGGATGGATG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0020 a0004c0004t0020	a0004c0004t0020g0217 a0004c0004t0020g0217	1	284	0.0035	24	c.381 others(41): Show c.3818-467_3818-444dupCATCCATCCATCCATCCATCCATC	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	40/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041787	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGGGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0277 a0001c0010t0005g0277	1	284	0.0035	24	c.350 others(41): Show c.3505+360_3505+361insTTTCTTTCTTTCCCTTCCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227089588	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02451.hp2 HG01175.hp1 HG02451.hp2	a0002 a0012 a0002 a0012	a0002c0002 a0012c0011 a0002c0002 a0012c0011	a0002c0002t0002 a0012c0011t0003 a0002c0002t0002 a0012c0011t0003	a0002c0002t0002g0047 a0012c0011t0003g0219 a0002c0002t0002g0047 a0012c0011t0003g0219	2	284	0.0070	24	c.145 others(41): Show c.1459+279_1459+280insATATATATATATATATATATATAT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	21/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227163749	T T	TAGGAGAA others(17): Show TAGGAGAAAGAGAAAGCCCATCTTA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0005 a0003c0003t0003g0005	1	284	0.0035	24	c.-10 others(41): Show c.-102+257_-102+258insTAAGATGGGCTTTCTCTTTCTCCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	1/47			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	269	0.0037	24	c.81+ others(41): Show c.81+33428_81+33429insATATATATATATATATATATTTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL5A1_chr9_134636803_134849843	134848803	A A	AGGATCAC others(17): Show AGGATCACACCTCCCAGGAAGCACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02922.hp2 HG02723.hp1 HG02922.hp2	a0001 a0001	a0001c0016 a0001c0025 a0001c0016 a0001c0025	a0001c0016t0001 a0001c0025t0015 a0001c0016t0001 a0001c0025t0015	a0001c0016t0001g0022 a0001c0025t0015g0007 a0001c0016t0001g0022 a0001c0025t0015g0007	2	272	0.0074	24	c.65 others(35): Show c.6500_*6501insGGATCACACCTCCCAGGAAGCACG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		3961		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134848893	A A	AAGCACGG others(17): Show AAGCACGGGATCACACCTCCCAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0041 a0001c0026t0041	a0001c0026t0041g0036 a0001c0026t0041g0036	1	272	0.0037	24	c.65 others(35): Show c.6590_*6591insAGCACGGGATCACACCTCCCAGGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4051		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134848995	G G	GGGATCAC others(17): Show GGGATCACACCTCCCAGGGAGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0080 a0001c0004t0011g0080	1	272	0.0037	24	c.66 others(35): Show c.6692_*6693insGGATCACACCTCCCAGGGAGCACC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4153		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849259	A A	AGGATCAC others(17): Show AGGATCACACCTCCCAGGAAGCACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG02647.hp2 NA18967.hp2 HG00609.hp1 HG02647.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0002 a0001c0003t0002 a0001c0007t0023 a0001c0001t0002 a0001c0003t0002 a0001c0007t0023	a0001c0001t0002g0122 a0001c0003t0002g0246 a0001c0007t0023g0232 a0001c0001t0002g0122 a0001c0003t0002g0246 a0001c0007t0023g0232	3	272	0.0110	24	c.69 others(35): Show c.6956_*6957insGGATCACACCTCCCAGGAAGCACG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4417		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849693	G G	GATCACAC others(17): Show GATCACACCTCCCAGGAAGCGTGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01071.hp1 HG01071.hp2 others(1): Show HG00140.hp2 HG01071.hp1 HG01071.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 others(1): Show a0001c0002 a0001c0004 a0001c0006 a0001c0028	a0001c0002t0042 a0001c0004t0004 a0001c0006t0001 others(1): Show a0001c0002t0042 a0001c0004t0004 a0001c0006t0001 a0001c0028t0004	a0001c0002t0042g0185 a0001c0004t0004g0089 a0001c0006t0001g0108 others(1): Show a0001c0002t0042g0185 a0001c0004t0004g0089 a0001c0006t0001g0108 a0001c0028t0004g0213	4	272	0.0147	24	c.73 others(35): Show c.7390_*7391insATCACACCTCCCAGGAAGCGTGGT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4851		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849739	A A	AGGATCAC others(17): Show AGGATCACACCTCCCAGGAAGCACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00438.hp1 others(51): Show HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01952.hp1 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02145.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03516.hp2 HG03927.hp1 HG04199.hp1 NA18612.hp2 NA18747.hp2 NA18943.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18986.hp1 NA18986.hp2 NA18998.hp2 NA19004.hp2 NA19011.hp1 NA19057.hp2 NA19064.hp2 NA19070.hp2 NA19074.hp1 NA19085.hp1 NA19085.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0014 a0001c0019 a0001c0027 a0001c0036 a0001c0051 a0001c0052 a0001c0057 a0002c0041 a0004c0029	a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 others(26): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 a0001c0001t0037 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0003t0002 a0001c0003t0003 a0001c0003t0032 a0001c0004t0002 a0001c0004t0030 a0001c0005t0022 a0001c0006t0047 a0001c0007t0017 a0001c0007t0023 a0001c0008t0002 a0001c0009t0003 a0001c0010t0001 a0001c0012t0051 a0001c0014t0002 a0001c0019t0022 a0001c0027t0002 a0001c0036t0035 a0001c0051t0007 a0001c0052t0020 a0001c0057t0002 a0002c0041t0002 a0004c0029t0002	a0001c0001t0002g0023 a0001c0001t0002g0079 a0001c0001t0002g0081 others(51): Show a0001c0001t0002g0023 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0116 a0001c0001t0002g0122 a0001c0001t0002g0139 a0001c0001t0002g0165 a0001c0001t0002g0220 a0001c0001t0002g0227 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0003g0133 a0001c0001t0020g0194 a0001c0001t0037g0053 a0001c0002t0002g0030 a0001c0002t0002g0056 a0001c0002t0002g0062 a0001c0002t0002g0077 a0001c0002t0002g0096 a0001c0002t0002g0124 a0001c0002t0002g0171 a0001c0002t0003g0083 a0001c0002t0005g0059 a0001c0002t0005g0117 a0001c0003t0002g0142 a0001c0003t0002g0246 a0001c0003t0003g0201 a0001c0003t0003g0255 a0001c0003t0032g0004 a0001c0004t0002g0052 a0001c0004t0002g0172 a0001c0004t0002g0228 a0001c0004t0030g0253 a0001c0005t0022g0085 a0001c0006t0047g0019 a0001c0007t0017g0241 a0001c0007t0023g0232 a0001c0008t0002g0092 a0001c0009t0003g0261 a0001c0010t0001g0005 a0001c0010t0001g0006 a0001c0012t0051g0086 a0001c0014t0002g0066 a0001c0014t0002g0067 a0001c0014t0002g0161 a0001c0019t0022g0231 a0001c0027t0002g0090 a0001c0036t0035g0045 a0001c0051t0007g0202 a0001c0052t0020g0199 a0001c0057t0002g0024 a0002c0041t0002g0164 a0004c0029t0002g0097	54	272	0.1985	24	c.74 others(35): Show c.7436_*7437insGGATCACACCTCCCAGGAAGCACG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4897		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849762	C C	CGGGATCA others(17): Show CGGGATCACACCTCCCAGGAAGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0002 a0001c0022t0002	a0001c0022t0002g0159 a0001c0022t0002g0159	1	272	0.0037	24	c.74 others(35): Show c.7459_*7460insGGGATCACACCTCCCAGGAAGCAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4920		chr9	TogoVar
COL5A2_chr2_189026898_189184761	189059585	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	248	0.0040	24	c.208 others(41): Show c.2086-716_2086-693dupAAAAAAAAAAAAAAAAAAAAAAAA	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	31/53			chr2	TogoVar
COL5A2_chr2_189026898_189184761	189094588	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	248	0.0040	24	c.457 others(41): Show c.457-2192_457-2169dupGTGTGTGTGTGTGTGTGTGTGTGT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9977947	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0298 a0001c0003t0001g0298	1	412	0.0024	24	c.301 others(41): Show c.3019-270_3019-247dupATATATATATATATATATATATAT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	41/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9988855	A A	AAAAAAAA others(17): Show AAAAAAAAAAGAGAGAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19002.hp1 HG03486.hp2 NA19002.hp1	a0002 a0063 a0002 a0063	a0002c0020 a0063c0134 a0002c0020 a0063c0134	a0002c0020t0002 a0063c0134t0001 a0002c0020t0002 a0063c0134t0001	a0002c0020t0002g0096 a0063c0134t0001g0304 a0002c0020t0002g0096 a0063c0134t0001g0304	2	412	0.0049	24	c.214 others(41): Show c.2145+268_2145+269insCTTTCTCTCTCTCTCTTTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	27/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45981680	T T	TCCCGCCC others(17): Show TCCCGCCCCTCCCCTCCCCCTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0100 a0001c0001t0016g0100	1	128	0.0078	24	c.-17 others(33): Show c.-171_-170insCCCGCCCCTCCCCTCCCCCTCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		89		chr21	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)