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
COL3A1_chr2_188969373_189017746	189013488	A A	AATATATA others(7): Show AATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 NA18982.hp2 HG02683.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0047 a0001c0001t0001g0052	2	376	0.0053	14	c.17 others(25): Show c.1714_*1715insATATATATATATAT	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding		743		chr2	TogoVar
COL4A1_chr13_110143963_110312157	110145379	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 NA18953.hp1 NA18974.hp1 others(3): Show HG02109.hp2 NA18953.hp1 NA18974.hp1 NA18974.hp2 NA19004.hp1 NA19091.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0019 a0004c0005 others(3): Show a0001c0001 a0001c0019 a0004c0005 a0004c0017 a0004c0022 a0006c0042	a0001c0001t0001 a0001c0019t0001 a0004c0005t0001 others(3): Show a0001c0001t0001 a0001c0019t0001 a0004c0005t0001 a0004c0017t0001 a0004c0022t0001 a0006c0042t0002	a0001c0001t0001g0032 a0001c0019t0001g0005 a0004c0005t0001g0144 others(3): Show a0001c0001t0001g0032 a0001c0019t0001g0005 a0004c0005t0001g0144 a0004c0017t0001g0093 a0004c0022t0001g0100 a0006c0042t0002g0278	6	344	0.0174	14	c.49 others(25): Show c.4983_*4984insTTTTTTTTTTTTTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding		3583		chr13	TogoVar
COL4A1_chr13_110143963_110312157	110162197	C C	CACACACT others(7): Show CACACACTCAACACA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0064 a0001c0064	a0001c0064t0001 a0001c0064t0001	a0001c0064t0001g0024 a0001c0064t0001g0024	1	344	0.0029	14	c.446 others(29): Show c.4462+32_4462+33insTGTGTTGAGTGTGT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	48/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110169497	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03579.hp2 NA18906.hp2 HG02622.hp2 HG03579.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0015 a0001c0003 a0002c0002 a0002c0015	a0001c0003t0001 a0002c0002t0001 a0002c0015t0001 a0001c0003t0001 a0002c0002t0001 a0002c0015t0001	a0001c0003t0001g0095 a0002c0002t0001g0185 a0002c0015t0001g0231 a0001c0003t0001g0095 a0002c0002t0001g0185 a0002c0015t0001g0231	3	344	0.0087	14	c.387 others(31): Show c.3876+118_3876+131dupGTGTGTGTGTGTGT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	43/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110198078	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01975.hp1 HG02155.hp1 others(1): Show HG01928.hp1 HG01975.hp1 HG02155.hp1 NA19058.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0016 a0002c0040 a0004c0022 a0001c0016 a0002c0040 a0004c0022	a0001c0016t0003 a0002c0040t0002 a0004c0022t0001 a0001c0016t0003 a0002c0040t0002 a0004c0022t0001	a0001c0016t0003g0029 a0002c0040t0002g0274 a0002c0040t0002g0339 others(1): Show a0001c0016t0003g0029 a0002c0040t0002g0274 a0002c0040t0002g0339 a0004c0022t0001g0048	4	344	0.0116	14	c.128 others(31): Show c.1285+375_1285+388dupACACACACACACAC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	21/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110222771	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG04184.hp1 NA18963.hp1 HG03225.hp1 HG04184.hp1 NA18963.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0004c0071 a0001c0001 a0004c0005 a0004c0071	a0001c0001t0001 a0004c0005t0001 a0004c0071t0001 a0001c0001t0001 a0004c0005t0001 a0004c0071t0001	a0001c0001t0001g0011 a0004c0005t0001g0003 a0004c0071t0001g0084 a0001c0001t0001g0011 a0004c0005t0001g0003 a0004c0071t0001g0084	3	344	0.0087	14	c.145 others(31): Show c.145-8757_145-8756insTTTTTTTTTTTTTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110247790	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02717.hp2 HG01978.hp1 HG02717.hp2	a0003 a0004 a0003 a0004	a0003c0012 a0004c0078 a0003c0012 a0004c0078	a0003c0012t0002 a0004c0078t0001 a0003c0012t0002 a0004c0078t0001	a0003c0012t0002g0318 a0004c0078t0001g0068 a0003c0012t0002g0318 a0004c0078t0001g0068	2	344	0.0058	14	c.85- others(29): Show c.85-5070_85-5057dupACACACACACACAC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110252655	A A	ATATATAC others(7): Show ATATATACATATAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp2 HG01071.hp1 others(17): Show HG00140.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp2 HG01243.hp1 HG02055.hp1 HG02056.hp2 HG02622.hp1 HG02818.hp1 HG03239.hp2 HG03486.hp2 HG03516.hp2 NA18522.hp2 NA18906.hp1 NA18963.hp1 NA18969.hp1 NA18984.hp2 NA19004.hp1 NA19030.hp2 NA19079.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0003 a0001c0010 others(15): Show a0001c0001 a0001c0003 a0001c0010 a0001c0013 a0001c0065 a0002c0002 a0002c0004 a0002c0026 a0002c0083 a0002c0088 a0002c0108 a0003c0009 a0003c0103 a0004c0005 a0004c0021 a0004c0022 a0004c0067 a0007c0063	a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 others(15): Show a0001c0001t0001 a0001c0003t0001 a0001c0010t0001 a0001c0013t0001 a0001c0065t0001 a0002c0002t0002 a0002c0004t0001 a0002c0026t0004 a0002c0083t0001 a0002c0088t0003 a0002c0108t0001 a0003c0009t0001 a0003c0103t0001 a0004c0005t0001 a0004c0021t0001 a0004c0022t0001 a0004c0067t0001 a0007c0063t0003	a0001c0001t0001g0011 a0001c0003t0001g0105 a0001c0010t0001g0049 others(16): Show a0001c0001t0001g0011 a0001c0003t0001g0105 a0001c0010t0001g0049 a0001c0013t0001g0002 a0001c0065t0001g0023 a0002c0002t0002g0288 a0002c0004t0001g0207 a0002c0026t0004g0266 a0002c0083t0001g0173 a0002c0088t0003g0225 a0002c0108t0001g0251 a0003c0009t0001g0203 a0003c0009t0001g0238 a0003c0103t0001g0240 a0004c0005t0001g0101 a0004c0021t0001g0028 a0004c0022t0001g0100 a0004c0067t0001g0007 a0007c0063t0003g0106	20	344	0.0581	14	c.85- others(29): Show c.85-9922_85-9921insATTATATGTATATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGGAAG others(7): Show GGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0200	1	344	0.0029	14	c.85- others(31): Show c.85-12970_85-12969insTTCCTGCCTTCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110261035	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02015.hp2 HG03041.hp2 others(2): Show HG00544.hp2 HG02015.hp2 HG03041.hp2 NA18747.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0004 a0003c0038 others(1): Show a0001c0001 a0002c0004 a0003c0038 a0004c0017	a0001c0001t0001 a0002c0004t0001 a0003c0038t0001 others(1): Show a0001c0001t0001 a0002c0004t0001 a0003c0038t0001 a0004c0017t0005	a0001c0001t0001g0044 a0001c0001t0001g0072 a0002c0004t0001g0204 others(2): Show a0001c0001t0001g0044 a0001c0001t0001g0072 a0002c0004t0001g0204 a0003c0038t0001g0196 a0004c0017t0005g0073	5	344	0.0145	14	c.85- others(31): Show c.85-18302_85-18301insTTTTTTTTTTTTTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110509245	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG01433.hp1 others(29): Show HG00423.hp1 HG00621.hp1 HG01433.hp1 HG01496.hp2 HG01934.hp1 HG01975.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02129.hp1 HG02523.hp2 HG02615.hp2 HG03017.hp2 HG03669.hp2 HG03688.hp1 NA18957.hp2 NA18964.hp2 NA18966.hp2 NA18975.hp2 NA19009.hp2 NA19030.hp1 NA19063.hp1 NA19064.hp2 NA19074.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19091.hp1 NA19240.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0015 a0024	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0015 a0001c0025 a0001c0098 a0002c0017 a0002c0087 a0002c0091 a0003c0007 a0003c0010 a0003c0040 a0003c0095 a0004c0009 a0004c0012 a0015c0109 a0024c0076	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(23): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0046 a0001c0002t0004 a0001c0003t0001 a0001c0003t0003 a0001c0003t0017 a0001c0005t0002 a0001c0015t0001 a0001c0015t0002 a0001c0015t0003 a0001c0025t0002 a0001c0098t0005 a0002c0017t0002 a0002c0087t0001 a0002c0091t0001 a0003c0007t0004 a0003c0007t0005 a0003c0010t0008 a0003c0040t0002 a0003c0095t0003 a0004c0009t0003 a0004c0012t0004 a0015c0109t0002 a0024c0076t0003	a0001c0001t0004g0290 a0001c0001t0005g0107 a0001c0001t0005g0192 others(29): Show a0001c0001t0004g0290 a0001c0001t0005g0107 a0001c0001t0005g0192 a0001c0001t0006g0047 a0001c0001t0046g0283 a0001c0002t0004g0275 a0001c0003t0001g0232 a0001c0003t0003g0088 a0001c0003t0003g0089 a0001c0003t0003g0133 a0001c0003t0017g0178 a0001c0005t0002g0322 a0001c0005t0002g0342 a0001c0015t0001g0227 a0001c0015t0002g0269 a0001c0015t0002g0284 a0001c0015t0003g0093 a0001c0025t0002g0346 a0001c0098t0005g0237 a0002c0017t0002g0334 a0002c0087t0001g0256 a0002c0091t0001g0210 a0003c0007t0004g0347 a0003c0007t0005g0169 a0003c0010t0008g0010 a0003c0040t0002g0261 a0003c0095t0003g0082 a0004c0009t0003g0062 a0004c0009t0003g0128 a0004c0012t0004g0299 a0015c0109t0002g0321 a0024c0076t0003g0076	32	372	0.0860	14	c.488 others(33): Show c.4881+1037_4881+1050dupTATATATATATATA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	47/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227195665	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02129.hp2 HG02559.hp2 others(1): Show HG01081.hp1 HG02129.hp2 HG02559.hp2 HG03017.hp1	a0002 a0007 a0010 others(1): Show a0002 a0007 a0010 a0023	a0002c0026 a0007c0006 a0010c0018 others(1): Show a0002c0026 a0007c0006 a0010c0018 a0023c0046	a0002c0026t0014 a0007c0006t0005 a0010c0018t0002 others(1): Show a0002c0026t0014 a0007c0006t0005 a0010c0018t0002 a0023c0046t0001	a0002c0026t0014g0071 a0007c0006t0005g0169 a0010c0018t0002g0104 others(1): Show a0002c0026t0014g0071 a0007c0006t0005g0169 a0010c0018t0002g0104 a0023c0046t0001g0313	4	344	0.0116	14	c.87+ others(31): Show c.87+30853_87+30854insGTGTGTGTGTGTGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227195667	A A	ATATGTGT others(7): Show ATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0006 a0006c0010t0006	a0006c0010t0006g0156 a0006c0010t0006g0156	1	344	0.0029	14	c.87+ others(31): Show c.87+30855_87+30856insATGTGTGTGTGTGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202846	C C	CACATATA others(7): Show CACATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01358.hp2 HG02055.hp1 others(3): Show HG01109.hp2 HG01358.hp2 HG02055.hp1 HG02895.hp1 HG02897.hp1 HG03209.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0004 a0002c0007 a0003c0011 others(1): Show a0002c0004 a0002c0007 a0003c0011 a0005c0005	a0002c0004t0013 a0002c0007t0010 a0003c0011t0003 others(1): Show a0002c0004t0013 a0002c0007t0010 a0003c0011t0003 a0005c0005t0007	a0002c0004t0013g0339 a0002c0004t0013g0340 a0002c0007t0010g0052 others(3): Show a0002c0004t0013g0339 a0002c0004t0013g0340 a0002c0007t0010g0052 a0003c0011t0003g0010 a0003c0011t0003g0337 a0005c0005t0007g0109	6	344	0.0174	14	c.88- others(31): Show c.88-35121_88-35120insCATATATGTGTATA	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(7): Show CACATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA19074.hp2 HG02970.hp1 NA19074.hp2	a0002 a0006 a0002 a0006	a0002c0004 a0006c0010 a0002c0004 a0006c0010	a0002c0004t0001 a0006c0010t0006 a0002c0004t0001 a0006c0010t0006	a0002c0004t0001g0168 a0006c0010t0006g0072 a0002c0004t0001g0168 a0006c0010t0006g0072	2	344	0.0058	14	c.88- others(31): Show c.88-34985_88-34984insCATATATGTGTATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203018	T T	TATATGTA others(7): Show TATATGTATATATAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0014 a0006c0010t0001g0014	1	344	0.0029	14	c.88- others(31): Show c.88-34946_88-34945insGTATATATACATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203034	T T	TATGTGTA others(7): Show TATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02970.hp1 others(1): Show HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03209.hp2	a0002 a0006 a0002 a0006	a0002c0004 a0002c0007 a0006c0010 a0002c0004 a0002c0007 a0006c0010	a0002c0004t0013 a0002c0007t0010 a0006c0010t0006 a0002c0004t0013 a0002c0007t0010 a0006c0010t0006	a0002c0004t0013g0339 a0002c0004t0013g0340 a0002c0007t0010g0052 others(1): Show a0002c0004t0013g0339 a0002c0004t0013g0340 a0002c0007t0010g0052 a0006c0010t0006g0072	4	344	0.0116	14	c.88- others(31): Show c.88-34933_88-34932insTGTGTATATATACA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203062	T T	TATGTGTA others(7): Show TATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0094 a0002c0004t0008g0094	1	344	0.0029	14	c.88- others(31): Show c.88-34905_88-34904insTGTGTATATATACA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203081	G G	GTATATAT others(7): Show GTATATATACATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp1 HG01516.hp2 others(5): Show HG00639.hp1 HG01099.hp1 HG01516.hp2 HG02451.hp2 HG02559.hp1 HG02896.hp2 HG02897.hp2 NA18906.hp2	a0002 a0004 a0010 others(3): Show a0002 a0004 a0010 a0029 a0031 a0037	a0002c0004 a0004c0003 a0010c0051 others(3): Show a0002c0004 a0004c0003 a0010c0051 a0029c0035 a0031c0038 a0037c0056	a0002c0004t0008 a0004c0003t0004 a0010c0051t0002 others(3): Show a0002c0004t0008 a0004c0003t0004 a0010c0051t0002 a0029c0035t0004 a0031c0038t0003 a0037c0056t0004	a0002c0004t0008g0240 a0002c0004t0008g0246 a0004c0003t0004g0254 others(5): Show a0002c0004t0008g0240 a0002c0004t0008g0246 a0004c0003t0004g0254 a0004c0003t0004g0255 a0010c0051t0002g0145 a0029c0035t0004g0308 a0031c0038t0003g0103 a0037c0056t0004g0009	8	344	0.0233	14	c.88- others(31): Show c.88-34886_88-34885insATATATACATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203128	T T	TATGTGTA others(7): Show TATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0020 a0020	a0020c0050 a0020c0050	a0020c0050t0011 a0020c0050t0011	a0020c0050t0011g0061 a0020c0050t0011g0061	1	344	0.0029	14	c.88- others(31): Show c.88-34839_88-34838insTGTGTATATATACA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203195	A A	ATGTGTAT others(7): Show ATGTGTATATATGTG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0109 a0005c0005t0007g0109	1	344	0.0029	14	c.88- others(31): Show c.88-34773_88-34772insTGTGTATATATGTG	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203270	T T	TATGTGTA others(7): Show TATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp2 NA19240.hp2 HG02615.hp1 HG02723.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0005g0051 a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0005g0051	3	344	0.0087	14	c.88- others(31): Show c.88-34696_88-34695insGTGTATATATACAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227220136	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA19065.hp1 HG02080.hp2 NA19065.hp1	a0003 a0008 a0003 a0008	a0003c0002 a0008c0009 a0003c0002 a0008c0009	a0003c0002t0003 a0008c0009t0001 a0003c0002t0003 a0008c0009t0001	a0003c0002t0003g0123 a0008c0009t0001g0193 a0003c0002t0003g0123 a0008c0009t0001g0193	2	344	0.0058	14	c.88- others(31): Show c.88-17816_88-17803dupGTGTGTGTGTGTGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(7): Show ATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0005 a0007c0006t0005	a0007c0006t0005g0343 a0007c0006t0005g0343	1	344	0.0029	14	c.546 others(29): Show c.546+711_546+712insATATATATATTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227302677	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03486.hp1 HG03540.hp2 others(4): Show HG02602.hp2 HG03486.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 NA19000.hp2 NA19057.hp1	a0002 a0003 a0007 others(2): Show a0002 a0003 a0007 a0008 a0009	a0002c0007 a0003c0011 a0007c0006 others(2): Show a0002c0007 a0003c0011 a0007c0006 a0008c0009 a0009c0008	a0002c0007t0010 a0003c0011t0010 a0007c0006t0005 others(2): Show a0002c0007t0010 a0003c0011t0010 a0007c0006t0005 a0008c0009t0001 a0009c0008t0001	a0002c0007t0010g0336 a0003c0011t0010g0341 a0007c0006t0005g0087 others(4): Show a0002c0007t0010g0336 a0003c0011t0010g0341 a0007c0006t0005g0087 a0007c0006t0005g0133 a0008c0009t0001g0029 a0008c0009t0001g0282 a0009c0008t0001g0208	7	344	0.0204	14	c.388 others(31): Show c.3883-345_3883-332dupAAAAAAAAAAAAAA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	43/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041848	G G	GAGAAAGA others(7): Show GAGAAAGAAAGAGAA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18999.hp2 NA18979.hp2 NA18999.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0005 a0005c0007t0005	a0005c0007t0005g0121 a0005c0007t0005g0134 a0005c0007t0005g0121 a0005c0007t0005g0134	2	284	0.0070	14	c.350 others(31): Show c.3505+299_3505+300insTTCTCTTTCTTTCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227045803	T T	TATATATA others(7): Show TATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0070 a0001c0070	a0001c0070t0039 a0001c0070t0039	a0001c0070t0039g0204 a0001c0070t0039g0204	1	284	0.0035	14	c.328 others(33): Show c.3289+1671_3289+1672insGTGTATATATATAT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227047731	C C	CCACACAC others(7): Show CCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02040.hp2 HG02132.hp2 others(9): Show HG01123.hp1 HG02040.hp2 HG02132.hp2 HG02683.hp1 HG02683.hp2 HG02896.hp1 HG02897.hp2 HG03831.hp1 HG03927.hp2 NA18965.hp1 NA18995.hp2 NA19030.hp1	a0002 a0004 a0006 others(1): Show a0002 a0004 a0006 a0023	a0002c0002 a0002c0058 a0002c0059 others(4): Show a0002c0002 a0002c0058 a0002c0059 a0004c0004 a0006c0005 a0006c0035 a0023c0039	a0002c0002t0002 a0002c0058t0005 a0002c0059t0025 others(4): Show a0002c0002t0002 a0002c0058t0005 a0002c0059t0025 a0004c0004t0002 a0006c0005t0004 a0006c0035t0036 a0023c0039t0007	a0002c0002t0002g0033 a0002c0002t0002g0048 a0002c0002t0002g0092 others(9): Show a0002c0002t0002g0033 a0002c0002t0002g0048 a0002c0002t0002g0092 a0002c0002t0002g0177 a0002c0002t0002g0203 a0002c0002t0002g0210 a0002c0058t0005g0214 a0002c0059t0025g0037 a0004c0004t0002g0260 a0006c0005t0004g0193 a0006c0035t0036g0270 a0023c0039t0007g0012	12	284	0.0423	14	c.321 others(31): Show c.3215-196_3215-183dupTGTGTGTGTGTGTG	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	34/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227089588	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01261.hp1 HG01358.hp2 others(8): Show HG00621.hp1 HG01261.hp1 HG01358.hp2 HG01515.hp1 HG02004.hp2 HG02683.hp1 HG03927.hp2 NA18999.hp1 NA19009.hp1 NA19065.hp1 NA19089.hp2	a0002 a0015 a0002 a0015	a0002c0002 a0015c0024 a0002c0002 a0015c0024	a0002c0002t0002 a0015c0024t0002 a0002c0002t0002 a0015c0024t0002	a0002c0002t0002g0014 a0002c0002t0002g0073 a0002c0002t0002g0079 others(8): Show a0002c0002t0002g0014 a0002c0002t0002g0073 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0112 a0002c0002t0002g0177 a0002c0002t0002g0203 a0002c0002t0002g0239 a0002c0002t0002g0248 a0002c0002t0002g0264 a0015c0024t0002g0120	11	284	0.0387	14	c.145 others(31): Show c.1459+266_1459+279dupATATATATATATAT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	21/47			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATATAT others(7): Show ATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03195.hp2 NA20300.hp1 HG02922.hp2 HG03195.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0070 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0070	3	269	0.0112	14	c.81+ others(31): Show c.81+33428_81+33429insATATATATTTTTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108678406	C C	CTACTCAC others(7): Show CTACTCACTCCCTAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	269	0.0037	14	c.394 others(31): Show c.3942+774_3942+787dupTACTCACTCCCTAT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	44/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A6_chrX_108150614_108443422	108300724	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01192.hp1 HG01261.hp1 others(26): Show HG00621.hp1 HG01192.hp1 HG01261.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG02074.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02559.hp2 HG02976.hp1 HG03139.hp1 HG03453.hp1 NA18522.hp1 NA18747.hp1 NA18940.hp1 NA18952.hp1 NA18966.hp1 NA18979.hp1 NA18985.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19060.hp1 NA19082.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0019 a0001c0001 a0001c0012 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0012t0002 a0001c0019t0001	a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0069 others(26): Show a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0154 a0001c0001t0002g0071 a0001c0001t0002g0082 a0001c0001t0002g0089 a0001c0001t0002g0103 a0001c0001t0002g0123 a0001c0001t0003g0231 a0001c0012t0002g0232 a0001c0019t0001g0085	29	234	0.1239	14	c.144 others(33): Show c.144+10010_144+10023dupACACACACACACAC	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	3/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108343165	A A	ATATATAG others(7): Show ATATATAGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 NA18957.hp2 others(2): Show HG03491.hp1 HG03492.hp1 NA18957.hp2 NA18969.hp1 NA19057.hp2	a0002 a0006 a0002 a0006	a0002c0003 a0006c0007 a0002c0003 a0006c0007	a0002c0003t0001 a0002c0003t0002 a0006c0007t0001 a0002c0003t0001 a0002c0003t0002 a0006c0007t0001	a0002c0003t0001g0029 a0002c0003t0002g0013 a0002c0003t0002g0014 others(2): Show a0002c0003t0001g0029 a0002c0003t0002g0013 a0002c0003t0002g0014 a0006c0007t0001g0018 a0006c0007t0001g0019	5	234	0.0214	14	c.64- others(31): Show c.64-32338_64-32337insACACACACTATATA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108343165	A A	ATATATAT others(7): Show ATATATATAGTGTGT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18951.hp1 NA18967.hp1 HG02165.hp1 NA18951.hp1 NA18967.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0020 a0002c0003t0001g0024 a0002c0003t0001g0025 a0001c0001t0001g0020 a0002c0003t0001g0024 a0002c0003t0001g0025	3	234	0.0128	14	c.64- others(31): Show c.64-32338_64-32337insACACACTATATATA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108377941	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02165.hp1 NA18951.hp1 others(1): Show HG01975.hp2 HG02165.hp1 NA18951.hp1 NA18984.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0002c0003t0002 a0001c0001t0002 a0002c0003t0001 a0002c0003t0002	a0001c0001t0002g0012 a0002c0003t0001g0024 a0002c0003t0001g0025 others(1): Show a0001c0001t0002g0012 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0002g0003	4	234	0.0171	14	c.63+ others(31): Show c.63+59987_63+60000dupTTTTTTTTTTTTTT	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL5A1_chr9_134636803_134849843	134747961	G G	GCACACAT others(7): Show GCACACATGCATTCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0003 a0001c0065t0003	a0001c0065t0003g0009 a0001c0065t0003g0009	1	272	0.0037	14	c.149 others(33): Show c.1495-2574_1495-2561dupTGCATTCACACACA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	11/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A2_chr2_189026898_189184761	189094588	G G	GACACACA others(7): Show GACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG01167.hp2 others(16): Show HG00408.hp1 HG00423.hp2 HG01167.hp2 HG01169.hp2 HG01257.hp2 HG01261.hp1 HG01943.hp1 HG01981.hp2 HG02273.hp1 HG02273.hp2 HG02630.hp2 HG03098.hp1 NA18747.hp1 NA18942.hp1 NA18950.hp2 NA18965.hp1 NA18995.hp1 NA18995.hp2 NA19076.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0012c0018	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0005t0002 a0001c0005t0019 a0001c0010t0001 a0012c0018t0012	a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0133 others(16): Show a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0211 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0003t0001g0194 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0001g0208 a0001c0003t0001g0234 a0001c0005t0002g0229 a0001c0005t0019g0173 a0001c0010t0001g0101 a0012c0018t0012g0148	19	248	0.0766	14	c.457 others(31): Show c.457-2182_457-2169dupGTGTGTGTGTGTGT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9956800	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01934.hp2 HG02698.hp2 HG01175.hp1 HG01934.hp2 HG02698.hp2	a0022 a0032 a0057 a0022 a0032 a0057	a0022c0030 a0032c0122 a0057c0141 a0022c0030 a0032c0122 a0057c0141	a0022c0030t0002 a0032c0122t0001 a0057c0141t0002 a0022c0030t0002 a0032c0122t0001 a0057c0141t0002	a0022c0030t0002g0293 a0032c0122t0001g0170 a0057c0141t0002g0067 a0022c0030t0002g0293 a0032c0122t0001g0170 a0057c0141t0002g0067	3	412	0.0073	14	c.36 others(25): Show c.3610_*3611insTTTTTTTTTTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding		2760		chr19	TogoVar
COL5A3_chr19_9954561_10015504	9977947	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG01346.hp1 others(2): Show HG00099.hp2 HG00323.hp2 HG01346.hp1 HG03688.hp1 HG04228.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0004 a0001c0001 a0001c0003 a0008c0004	a0001c0001t0001 a0001c0003t0001 a0008c0004t0002 a0001c0001t0001 a0001c0003t0001 a0008c0004t0002	a0001c0001t0001g0321 a0001c0001t0001g0329 a0001c0001t0001g0353 others(2): Show a0001c0001t0001g0321 a0001c0001t0001g0329 a0001c0001t0001g0353 a0001c0003t0001g0257 a0008c0004t0002g0029	5	412	0.0121	14	c.301 others(31): Show c.3019-260_3019-247dupATATATATATATAT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	41/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9984942	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG02145.hp2 HG02970.hp2	a0001 a0001	a0001c0089 a0001c0142 a0001c0089 a0001c0142	a0001c0089t0001 a0001c0142t0001 a0001c0089t0001 a0001c0142t0001	a0001c0089t0001g0225 a0001c0142t0001g0284 a0001c0089t0001g0225 a0001c0142t0001g0284	2	412	0.0049	14	c.240 others(31): Show c.2406+886_2406+899dupAAAAAAAAAAAAAA	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9988855	A A	AAAAAAGA others(7): Show AAAAAAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG03669.hp1 others(1): Show HG01516.hp2 HG01517.hp1 HG03669.hp1 HG03834.hp1	a0010 a0025 a0010 a0025	a0010c0140 a0025c0031 a0010c0140 a0025c0031	a0010c0140t0001 a0025c0031t0001 a0025c0031t0004 a0010c0140t0001 a0025c0031t0001 a0025c0031t0004	a0010c0140t0001g0063 a0025c0031t0001g0296 a0025c0031t0001g0297 others(1): Show a0010c0140t0001g0063 a0025c0031t0001g0296 a0025c0031t0001g0297 a0025c0031t0004g0131	4	412	0.0097	14	c.214 others(31): Show c.2145+268_2145+269insCTTTCTCTCTTTTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	27/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45980808	T T	TCCTCTCT others(7): Show TCCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0124 a0001c0003t0003g0124	1	128	0.0078	14	c.-10 others(25): Show c.-1043_-1042insCCTCTCTCTCTCTC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		961		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45980847	G G	GTGTCTCT others(7): Show GTGTCTCTGTGTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0123 a0002c0002t0010g0123	1	128	0.0078	14	c.-10 others(25): Show c.-1004_-1003insTGTCTCTGTGTCTC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		922		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981651	T T	TCCCCTCC others(7): Show TCCCCTCCCGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00642.hp2 HG01515.hp2 others(9): Show HG00423.hp1 HG00642.hp2 HG01515.hp2 HG01978.hp1 HG02015.hp2 HG02071.hp2 HG02148.hp2 HG02165.hp1 HG02895.hp1 HG03927.hp2 NA18612.hp2 NA18983.hp2	a0001 a0006 a0008 others(2): Show a0001 a0006 a0008 a0010 a0012	a0001c0001 a0006c0011 a0008c0015 others(2): Show a0001c0001 a0006c0011 a0008c0015 a0010c0016 a0012c0033	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0006c0011t0002 a0008c0015t0002 a0010c0016t0014 a0012c0033t0002	a0001c0001t0002g0081 a0001c0001t0002g0094 a0001c0001t0002g0102 others(9): Show a0001c0001t0002g0081 a0001c0001t0002g0094 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0111 a0001c0001t0003g0006 a0001c0001t0016g0100 a0006c0011t0002g0097 a0008c0015t0002g0089 a0010c0016t0014g0090 a0012c0033t0002g0080	12	128	0.0938	14	c.-20 others(23): Show c.-200_-199insCCCCTCCCGCCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		118		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981662	C C	CCCGCCCC others(7): Show CCCGCCCCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0020 a0020	a0020c0013 a0020c0013	a0020c0013t0004 a0020c0013t0004	a0020c0013t0004g0018 a0020c0013t0004g0018	1	128	0.0078	14	c.-18 others(23): Show c.-189_-188insCCGCCCCTCCCCCT	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		107		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981680	T T	TCCCCTCC others(7): Show TCCCCTCCCCTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG01074.hp1 others(17): Show HG00323.hp2 HG00423.hp2 HG01074.hp1 HG01074.hp2 HG01255.hp1 HG01258.hp1 HG01361.hp1 HG01496.hp2 HG01981.hp2 HG02015.hp1 HG02809.hp2 HG02886.hp1 HG03017.hp1 HG03017.hp2 HG03688.hp1 HG03704.hp2 HG04228.hp1 HG04228.hp2 NA19067.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0015 others(1): Show a0001 a0002 a0015 a0017	a0001c0001 a0001c0003 a0001c0012 others(6): Show a0001c0001 a0001c0003 a0001c0012 a0001c0017 a0001c0024 a0002c0002 a0002c0008 a0015c0027 a0017c0029	a0001c0001t0003 a0001c0003t0003 a0001c0003t0006 others(7): Show a0001c0001t0003 a0001c0003t0003 a0001c0003t0006 a0001c0012t0005 a0001c0017t0003 a0001c0024t0003 a0002c0002t0004 a0002c0008t0004 a0015c0027t0005 a0017c0029t0003	a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0020 others(17): Show a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0020 a0001c0003t0003g0015 a0001c0003t0003g0019 a0001c0003t0003g0026 a0001c0003t0003g0036 a0001c0003t0006g0005 a0001c0003t0006g0024 a0001c0003t0006g0059 a0001c0012t0005g0074 a0001c0017t0003g0016 a0001c0024t0003g0030 a0002c0002t0004g0021 a0002c0002t0004g0023 a0002c0002t0004g0027 a0002c0002t0004g0028 a0002c0008t0004g0032 a0015c0027t0005g0076 a0017c0029t0003g0022	20	128	0.1563	14	c.-17 others(23): Show c.-171_-170insCCCCTCCCCTCCCG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		89		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981793	C C	CGCGGCGG others(7): Show CGCGGCGGCCCCTTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0125 a0001c0001t0011g0125	1	128	0.0078	14	c.-57 others(21): Show c.-57_-56insCGGCGGCCCCTTGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	1/35	56	INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135606	C C	CCCCCTCA others(7): Show CCCCCTCACAAATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp2 others(137): Show HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20752.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0014	a0001c0002 a0001c0007 a0001c0015 others(28): Show a0001c0002 a0001c0007 a0001c0015 a0001c0023 a0001c0024 a0001c0026 a0001c0033 a0001c0042 a0001c0043 a0001c0044 a0001c0047 a0001c0050 a0002c0003 a0002c0012 a0002c0013 a0002c0029 a0003c0008 a0003c0010 a0003c0016 a0003c0032 a0003c0054 a0004c0005 a0005c0017 a0005c0065 a0006c0028 a0006c0056 a0007c0030 a0007c0060 a0008c0027 a0010c0066 a0014c0051	a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 others(36): Show a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0007t0003 a0001c0007t0005 a0001c0015t0002 a0001c0023t0001 a0001c0024t0002 a0001c0026t0005 a0001c0033t0002 a0001c0042t0002 a0001c0043t0002 a0001c0044t0003 a0001c0047t0001 a0001c0050t0002 a0002c0003t0001 a0002c0012t0001 a0002c0012t0007 a0002c0013t0003 a0002c0029t0001 a0003c0008t0003 a0003c0010t0001 a0003c0010t0002 a0003c0016t0002 a0003c0032t0001 a0003c0054t0003 a0004c0005t0001 a0005c0017t0002 a0005c0065t0002 a0006c0028t0001 a0006c0056t0001 a0007c0030t0002 a0007c0060t0002 a0008c0027t0003 a0010c0066t0002 a0014c0051t0001	a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0014 others(123): Show a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0123 a0001c0002t0002g0252 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0282 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0305 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0313 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0002t0002g0329 a0001c0002t0008g0017 a0001c0002t0009g0330 a0001c0002t0012g0018 a0001c0002t0013g0314 a0001c0002t0014g0328 a0001c0007t0003g0246 a0001c0007t0003g0247 a0001c0007t0003g0263 a0001c0007t0003g0264 a0001c0007t0003g0265 a0001c0007t0005g0059 a0001c0007t0005g0060 a0001c0007t0005g0061 a0001c0007t0005g0066 a0001c0015t0002g0326 a0001c0015t0002g0327 a0001c0023t0001g0250 a0001c0023t0001g0251 a0001c0024t0002g0318 a0001c0024t0002g0320 a0001c0026t0005g0233 a0001c0026t0005g0234 a0001c0033t0002g0018 a0001c0042t0002g0295 a0001c0043t0002g0285 a0001c0044t0003g0197 a0001c0047t0001g0245 a0001c0050t0002g0298 a0002c0003t0001g0222 a0002c0003t0001g0223 a0002c0012t0001g0026 a0002c0012t0001g0030 a0002c0012t0007g0029 a0002c0012t0007g0032 a0002c0012t0007g0095 a0002c0013t0003g0067 a0002c0013t0003g0069 a0002c0029t0001g0062 a0002c0029t0001g0089 a0003c0008t0003g0044 a0003c0008t0003g0050 a0003c0008t0003g0191 a0003c0008t0003g0192 a0003c0008t0003g0193 a0003c0008t0003g0199 a0003c0008t0003g0201 a0003c0008t0003g0202 a0003c0010t0001g0189 a0003c0010t0001g0190 a0003c0010t0001g0196 a0003c0010t0002g0325 a0003c0016t0002g0023 a0003c0032t0001g0240 a0003c0032t0001g0241 a0003c0054t0003g0198 a0004c0005t0001g0099 a0004c0005t0001g0204 a0004c0005t0001g0208 a0004c0005t0001g0210 a0005c0017t0002g0257 a0005c0017t0002g0258 a0005c0017t0002g0312 a0005c0065t0002g0311 a0006c0028t0001g0096 a0006c0028t0001g0098 a0006c0056t0001g0097 a0007c0030t0002g0092 a0007c0030t0002g0093 a0007c0060t0002g0070 a0008c0027t0003g0013 a0010c0066t0002g0283 a0014c0051t0001g0225	140	364	0.3846	14	c.30 others(25): Show c.3054_*3055insCCCCTCACAAATGT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2759		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135805	C C	CCCCTCCC others(7): Show CCCCTCCCCAGCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG00738.hp1 others(2): Show HG00140.hp2 HG00735.hp2 HG00738.hp1 HG01099.hp2 HG01106.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0021 a0001c0009t0001g0253 a0001c0009t0001g0259 others(1): Show a0001c0009t0001g0021 a0001c0009t0001g0253 a0001c0009t0001g0259 a0001c0009t0001g0262	5	364	0.0137	14	c.32 others(25): Show c.3253_*3254insCCCTCCCCAGCATT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2958		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135805	C C	CCCCTCCC others(7): Show CCCCTCCCCAGCGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp2 others(104): Show HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02165.hp1 HG02258.hp2 HG02630.hp1 HG02723.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20752.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0008 a0010	a0001c0002 a0001c0004 a0001c0009 others(18): Show a0001c0002 a0001c0004 a0001c0009 a0001c0015 a0001c0023 a0001c0024 a0001c0033 a0001c0042 a0001c0043 a0001c0044 a0001c0050 a0002c0003 a0003c0008 a0003c0010 a0003c0016 a0003c0054 a0005c0017 a0005c0065 a0007c0060 a0008c0027 a0010c0066	a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 others(23): Show a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0014 a0001c0004t0001 a0001c0009t0001 a0001c0015t0002 a0001c0023t0001 a0001c0024t0002 a0001c0033t0002 a0001c0042t0002 a0001c0043t0002 a0001c0044t0003 a0001c0050t0002 a0002c0003t0001 a0003c0008t0003 a0003c0010t0002 a0003c0016t0001 a0003c0016t0002 a0003c0054t0003 a0005c0017t0002 a0005c0065t0002 a0007c0060t0002 a0008c0027t0003 a0010c0066t0002	a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0014 others(90): Show a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0123 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0282 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0296 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0305 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0313 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0002t0002g0329 a0001c0002t0008g0017 a0001c0002t0009g0330 a0001c0002t0012g0018 a0001c0002t0014g0328 a0001c0004t0001g0168 a0001c0009t0001g0331 a0001c0009t0001g0335 a0001c0015t0002g0260 a0001c0015t0002g0326 a0001c0015t0002g0327 a0001c0023t0001g0250 a0001c0023t0001g0251 a0001c0024t0002g0318 a0001c0024t0002g0320 a0001c0033t0002g0018 a0001c0042t0002g0295 a0001c0043t0002g0285 a0001c0044t0003g0197 a0001c0050t0002g0298 a0002c0003t0001g0028 a0002c0003t0001g0086 a0002c0003t0001g0222 a0003c0008t0003g0044 a0003c0008t0003g0045 a0003c0008t0003g0050 a0003c0008t0003g0191 a0003c0008t0003g0193 a0003c0008t0003g0199 a0003c0008t0003g0201 a0003c0008t0003g0202 a0003c0010t0002g0325 a0003c0016t0001g0231 a0003c0016t0002g0023 a0003c0054t0003g0198 a0005c0017t0002g0257 a0005c0017t0002g0258 a0005c0017t0002g0312 a0005c0065t0002g0311 a0007c0060t0002g0070 a0008c0027t0003g0013 a0010c0066t0002g0283	107	364	0.2940	14	c.32 others(25): Show c.3253_*3254insCCCTCCCCAGCGTT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2958		chr21	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)