Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COL28A1_chr7_7352875_7540873	7374038	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03195.hp1 HG02922.hp1 HG03195.hp1	a0025 a0029 a0025 a0029	a0025c0043 a0029c0026 a0025c0043 a0029c0026	a0025c0043t0007 a0029c0026t0007 a0025c0043t0007 a0029c0026t0007	a0025c0043t0007g0029 a0029c0026t0007g0164 a0025c0043t0007g0029 a0029c0026t0007g0164	2	196	0.0102	18	c.236 others(35): Show c.2360-493_2360-492insATATTTTTTTTTTTTTTT	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	31/34			chr7	TogoVar
COL28A1_chr7_7352875_7540873	7374038	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0173	1	196	0.0051	18	c.236 others(35): Show c.2360-493_2360-492insATATATATATTTTTTTTT	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	31/34			chr7	TogoVar
COL2A1_chr12_47967967_48009476	48008117	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG03654.hp1 HG04199.hp1 HG02647.hp2 HG03654.hp1 HG04199.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0011 a0001c0004t0001g0050 a0001c0004t0001g0205 a0001c0004t0001g0011 a0001c0004t0001g0050 a0001c0004t0001g0205	3	414	0.0073	18	c.-37 others(29): Show c.-3797_-3796insTTGTTTCTTTCTTTCTTT	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		3642		chr12	TogoVar
COL2A1_chr12_47967967_48009476	48008121	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG02080.hp2 HG02717.hp1 others(5): Show HG01361.hp2 HG02080.hp2 HG02717.hp1 NA18950.hp1 NA18992.hp1 NA18997.hp2 NA19011.hp1 NA19011.hp2	a0002 a0003 a0016 others(1): Show a0002 a0003 a0016 a0022	a0002c0001 a0003c0012 a0003c0021 others(2): Show a0002c0001 a0003c0012 a0003c0021 a0016c0038 a0022c0032	a0002c0001t0002 a0003c0012t0001 a0003c0021t0002 others(2): Show a0002c0001t0002 a0003c0012t0001 a0003c0021t0002 a0016c0038t0002 a0022c0032t0002	a0002c0001t0002g0001 a0002c0001t0002g0063 a0002c0001t0002g0078 others(4): Show a0002c0001t0002g0001 a0002c0001t0002g0063 a0002c0001t0002g0078 a0003c0012t0001g0034 a0003c0021t0002g0062 a0016c0038t0002g0088 a0022c0032t0002g0083	8	414	0.0193	18	c.-38 others(29): Show c.-3801_-3800insTTCTTCCTTTCTTTCTTT	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		3646		chr12	TogoVar
COL3A1_chr2_188969373_189017746	188972936	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	376	0.0027	18	c.-15 others(29): Show c.-1554_-1553insAAAAAAAAAAAAAAAAAA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding		1436		chr2	TogoVar
COL4A1_chr13_110143963_110312157	110198076	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA19002.hp2 NA20300.hp2 HG02970.hp2 NA19002.hp2 NA20300.hp2	a0002 a0004 a0002 a0004	a0002c0015 a0002c0103 a0004c0021 a0002c0015 a0002c0103 a0004c0021	a0002c0015t0004 a0002c0103t0001 a0004c0021t0001 a0002c0015t0004 a0002c0103t0001 a0004c0021t0001	a0002c0015t0004g0268 a0002c0103t0001g0172 a0004c0021t0001g0035 a0002c0015t0004g0268 a0002c0103t0001g0172 a0004c0021t0001g0035	3	344	0.0087	18	c.128 others(35): Show c.1285+390_1285+391insACACACACACACACACAC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	21/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110198078	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	344	0.0029	18	c.128 others(35): Show c.1285+371_1285+388dupACACACACACACACACAC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	21/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110222771	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	344	0.0029	18	c.145 others(35): Show c.145-8757_145-8756insTTTTTTTTTTTTTTTTTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255766	A A	AGGGGAAA others(11): Show AGGGGAAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0006 a0006	a0006c0042 a0006c0042	a0006c0042t0002 a0006c0042t0002	a0006c0042t0002g0280 a0006c0042t0002g0280	1	344	0.0029	18	c.85- others(35): Show c.85-13033_85-13032insCCCTTCCTGCCTTTCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255766	A A	AGGGGGAA others(11): Show AGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02615.hp2 HG02896.hp1 others(1): Show HG02015.hp2 HG02615.hp2 HG02896.hp1 HG02897.hp2	a0002 a0004 a0002 a0004	a0002c0030 a0002c0048 a0004c0017 a0002c0030 a0002c0048 a0004c0017	a0002c0030t0008 a0002c0048t0001 a0004c0017t0005 a0002c0030t0008 a0002c0048t0001 a0004c0017t0005	a0002c0030t0008g0189 a0002c0048t0001g0186 a0002c0048t0001g0187 others(1): Show a0002c0030t0008g0189 a0002c0048t0001g0186 a0002c0048t0001g0187 a0004c0017t0005g0073	4	344	0.0116	18	c.85- others(35): Show c.85-13033_85-13032insCCCTTCCTGCCTTCCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255786	A A	AGGGGAAA others(11): Show AGGGGAAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0167 a0001c0007t0001g0167	1	344	0.0029	18	c.85- others(35): Show c.85-13053_85-13052insCCCTTCCTGCCTTTCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255786	A A	AGGGGGAA others(11): Show AGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02165.hp1 NA18993.hp2 HG02135.hp2 HG02165.hp1 NA18993.hp2	a0003 a0004 a0003 a0004	a0003c0041 a0004c0005 a0004c0021 a0003c0041 a0004c0005 a0004c0021	a0003c0041t0002 a0004c0005t0001 a0004c0021t0001 a0003c0041t0002 a0004c0005t0001 a0004c0021t0001	a0003c0041t0002g0303 a0004c0005t0001g0077 a0004c0021t0001g0063 a0003c0041t0002g0303 a0004c0005t0001g0077 a0004c0021t0001g0063	3	344	0.0087	18	c.85- others(35): Show c.85-13053_85-13052insCCCTTCCTGCCTTCCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255806	A A	AGGGGAAA others(11): Show AGGGGAAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG01346.hp2 others(4): Show HG00558.hp1 HG00621.hp1 HG01346.hp2 HG02293.hp2 HG02886.hp1 NA18992.hp1 NA19012.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0010	a0002c0002 a0002c0004 a0002c0028 others(3): Show a0002c0002 a0002c0004 a0002c0028 a0003c0099 a0004c0005 a0010c0083	a0002c0002t0002 a0002c0004t0001 a0002c0028t0004 others(3): Show a0002c0002t0002 a0002c0004t0001 a0002c0028t0004 a0003c0099t0003 a0004c0005t0001 a0010c0083t0002	a0002c0002t0002g0265 a0002c0002t0002g0320 a0002c0004t0001g0182 others(4): Show a0002c0002t0002g0265 a0002c0002t0002g0320 a0002c0004t0001g0182 a0002c0028t0004g0340 a0003c0099t0003g0206 a0004c0005t0001g0075 a0010c0083t0002g0275	7	344	0.0204	18	c.85- others(35): Show c.85-13073_85-13072insCCCTTCCTGCCTTTCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255826	A A	AGGGGGAA others(11): Show AGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0120 a0001c0003t0001g0120	1	344	0.0029	18	c.85- others(35): Show c.85-13093_85-13092insCCCTTCCTGCCTTCCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110509245	T T	TTATATAC others(11): Show TTATATACATATATATATA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19007.hp2 NA18945.hp2 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0024 a0002c0100 a0001c0024 a0002c0100	a0001c0024t0001 a0002c0100t0001 a0001c0024t0001 a0002c0100t0001	a0001c0024t0001g0201 a0002c0100t0001g0230 a0001c0024t0001g0201 a0002c0100t0001g0230	2	372	0.0054	18	c.488 others(37): Show c.4881+1030_4881+1031insCATATATATATATATATA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	47/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110509245	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG06807.hp2 NA18982.hp1 others(1): Show HG01106.hp2 HG06807.hp2 NA18982.hp1 NA19087.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0002c0007 a0003c0010 others(1): Show a0001c0005 a0002c0007 a0003c0010 a0003c0017	a0001c0005t0002 a0002c0007t0005 a0003c0010t0004 others(1): Show a0001c0005t0002 a0002c0007t0005 a0003c0010t0004 a0003c0017t0006	a0001c0005t0002g0337 a0002c0007t0005g0110 a0003c0010t0004g0268 others(1): Show a0001c0005t0002g0337 a0002c0007t0005g0110 a0003c0010t0004g0268 a0003c0017t0006g0121	4	372	0.0108	18	c.488 others(37): Show c.4881+1033_4881+1050dupTATATATATATATATATA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	47/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110509270	T T	TATACACA others(11): Show TATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02965.hp2 HG02486.hp2 HG02965.hp2	a0002 a0003 a0002 a0003	a0002c0054 a0003c0006 a0002c0054 a0003c0006	a0002c0054t0045 a0003c0006t0038 a0002c0054t0045 a0003c0006t0038	a0002c0054t0045g0233 a0003c0006t0038g0019 a0002c0054t0045g0233 a0003c0006t0038g0019	2	372	0.0054	18	c.488 others(37): Show c.4881+1050_4881+1051insTACACACACACACACACA	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(11): Show TATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0003 a0003	a0003c0115 a0003c0115	a0003c0115t0011 a0003c0115t0011	a0003c0115t0011g0168 a0003c0115t0011g0168	1	372	0.0027	18	c.488 others(37): Show c.4881+1050_4881+1051insTATACACACACACACACA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	47/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110509270	T T	TATATATA others(11): Show TATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0066 a0002c0066	a0002c0066t0007 a0002c0066t0007	a0002c0066t0007g0181 a0002c0066t0007g0181	1	372	0.0027	18	c.488 others(37): Show c.4881+1050_4881+1051insTATATATACACACACACA	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(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0014 a0002c0026t0014	a0002c0026t0014g0146 a0002c0026t0014g0146	1	344	0.0029	18	c.87+ others(35): Show c.87+30853_87+30854insGTGTGTGTGTGTGTGTGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227195667	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0002 a0003c0011t0001g0002	1	344	0.0029	18	c.87+ others(35): Show c.87+30866_87+30883dupGTGTGTGTGTGTGTGTGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202926	T T	TATATATA others(11): Show TATATATACGTATATATAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0022 a0022	a0022c0048 a0022c0048	a0022c0048t0001 a0022c0048t0001	a0022c0048t0001g0141 a0022c0048t0001g0141	1	344	0.0029	18	c.88- others(35): Show c.88-35036_88-35035insACGTATATATACATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203018	T T	TATATATA others(11): Show TATATATACGTATATATAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18612.hp2 NA18955.hp1 HG02056.hp2 NA18612.hp2 NA18955.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0006 a0001c0001 a0007c0006	a0001c0001t0001 a0001c0001t0017 a0007c0006t0005 a0001c0001t0001 a0001c0001t0017 a0007c0006t0005	a0001c0001t0001g0203 a0001c0001t0017g0209 a0007c0006t0005g0210 a0001c0001t0001g0203 a0001c0001t0017g0209 a0007c0006t0005g0210	3	344	0.0087	18	c.88- others(35): Show c.88-34944_88-34943insACGTATATATACATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203046	T T	TATATATG others(11): Show TATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0035 a0035	a0035c0052 a0035c0052	a0035c0052t0001 a0035c0052t0001	a0035c0052t0001g0325 a0035c0052t0001g0325	1	344	0.0029	18	c.88- others(35): Show c.88-34905_88-34888dupACATATATGTGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203092	T T	CGTATATA others(11): Show CGTATATATACATATATGT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0211 a0009c0008t0001g0211	1	344	0.0029	18	c.88- others(35): Show c.88-34877_88-34876insCGTATATATACATATATG	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203112	T T	TATATATG others(11): Show TATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01433.hp1 HG02602.hp1 others(2): Show HG01109.hp1 HG01433.hp1 HG02602.hp1 HG03239.hp1 HG03654.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0002 a0008c0009 a0001c0001 a0003c0002 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0003c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0002t0003 a0008c0009t0001	a0001c0001t0001g0242 a0001c0001t0002g0082 a0003c0002t0003g0220 others(2): Show a0001c0001t0001g0242 a0001c0001t0002g0082 a0003c0002t0003g0220 a0008c0009t0001g0029 a0008c0009t0001g0183	5	344	0.0145	18	c.88- others(35): Show c.88-34839_88-34822dupACATATATGTGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203168	T T	TATATATG others(11): Show TATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0005 a0007c0006t0005	a0007c0006t0005g0087 a0007c0006t0005g0087	1	344	0.0029	18	c.88- others(35): Show c.88-34786_88-34785insATACATATATGTGTATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203277	G G	GTGTATAT others(11): Show GTGTATATATACCCATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0012 a0002c0027t0012	a0002c0027t0012g0011 a0002c0027t0012g0011	1	344	0.0029	18	c.88- others(35): Show c.88-34680_88-34679insCCATATATGTATATATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203284	T T	TATACATA others(11): Show TATACATATATGTGTATAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0018 a0006c0016t0018	a0006c0016t0018g0036 a0006c0016t0018g0036	1	344	0.0029	18	c.88- others(35): Show c.88-34667_88-34666insCATACATATATGTGTATA	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(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	344	0.0029	18	c.88- others(35): Show c.88-19883_88-19866dupTATATATATATATATATA	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(11): Show ATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0019 a0017c0019t0019	a0017c0019t0019g0178 a0017c0019t0019g0178	1	344	0.0029	18	c.546 others(33): Show c.546+711_546+712insATATATTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATTT others(11): Show ATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19010.hp2 NA18971.hp2 NA19010.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0176 a0005c0005t0001g0177 a0005c0005t0001g0176 a0005c0005t0001g0177	2	344	0.0058	18	c.546 others(33): Show c.546+711_546+712insATATTTTTTTTTTTTTTT	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(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02074.hp1 HG02738.hp2 others(4): Show HG01978.hp2 HG02074.hp1 HG02738.hp2 NA18948.hp2 NA18971.hp2 NA19010.hp2 NA19065.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0005c0005 a0008c0009 a0001c0001 a0005c0005 a0008c0009	a0001c0001t0001 a0005c0005t0001 a0008c0009t0001 a0001c0001t0001 a0005c0005t0001 a0008c0009t0001	a0001c0001t0001g0098 a0001c0001t0001g0134 a0001c0001t0001g0142 others(4): Show a0001c0001t0001g0098 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0198 a0005c0005t0001g0176 a0005c0005t0001g0177 a0008c0009t0001g0193	7	344	0.0204	18	c.388 others(35): Show c.3883-349_3883-332dupAAAAAAAAAAAAAAAAAA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	43/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227317956	A A	ACTAGCAA others(11): Show ACTAGCAAAGAAAGGAATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0035 a0035	a0035c0052 a0035c0052	a0035c0052t0001 a0035c0052t0001	a0035c0052t0001g0325 a0035c0052t0001g0325	1	344	0.0029	18	c.60 others(29): Show c.6086_*6087insCTAGCAAAGAAAGGAATC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding		3165		chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041848	G G	GAGAAAGA others(11): Show GAGAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA20300.hp2 HG01106.hp1 NA20300.hp2	a0007 a0022 a0007 a0022	a0007c0006 a0022c0037 a0007c0006 a0022c0037	a0007c0006t0004 a0022c0037t0005 a0007c0006t0004 a0022c0037t0005	a0007c0006t0004g0175 a0022c0037t0005g0024 a0007c0006t0004g0175 a0022c0037t0005g0024	2	284	0.0070	18	c.350 others(35): Show c.3505+299_3505+300insTTCTTTCTCTTTCTTTCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041848	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	284	0.0035	18	c.350 others(35): Show c.3505+299_3505+300insTTCTCTCTCTCTCTCTCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227047731	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0013	1	284	0.0035	18	c.321 others(35): Show c.3215-200_3215-183dupTGTGTGTGTGTGTGTGTG	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	34/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227089588	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02735.hp2 NA19060.hp2 others(1): Show HG02165.hp2 HG02735.hp2 NA19060.hp2 NA19088.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0009 a0002c0002 a0009c0009	a0002c0002t0002 a0009c0009t0001 a0002c0002t0002 a0009c0009t0001	a0002c0002t0002g0078 a0002c0002t0002g0090 a0002c0002t0002g0211 others(1): Show a0002c0002t0002g0078 a0002c0002t0002g0090 a0002c0002t0002g0211 a0009c0009t0001g0055	4	284	0.0141	18	c.145 others(35): Show c.1459+262_1459+279dupATATATATATATATATAT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	21/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227091247	C C	CAGATATA others(11): Show CAGATATAGATATAGATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG02055.hp2 HG02280.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0005 a0002c0002 a0006c0005	a0002c0002t0004 a0006c0005t0004 a0002c0002t0004 a0006c0005t0004	a0002c0002t0004g0149 a0006c0005t0004g0148 a0002c0002t0004g0149 a0006c0005t0004g0148	2	284	0.0070	18	c.137 others(37): Show c.1370-1308_1370-1291dupATATCTATATCTATATCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	20/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227138133	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02965.hp1 HG02145.hp1 HG02145.hp2 HG02965.hp1	a0012 a0015 a0026 a0012 a0015 a0026	a0012c0052 a0015c0013 a0026c0046 a0012c0052 a0015c0013 a0026c0046	a0012c0052t0015 a0015c0013t0006 a0026c0046t0015 a0012c0052t0015 a0015c0013t0006 a0026c0046t0015	a0012c0052t0015g0152 a0015c0013t0006g0155 a0026c0046t0015g0025 a0012c0052t0015g0152 a0015c0013t0006g0155 a0026c0046t0015g0025	3	284	0.0106	18	c.192 others(35): Show c.192+2010_192+2027dupATTATTATTATTATTATT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	4/47			chr2	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03942.hp1 NA18948.hp1 HG02897.hp2 HG03942.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0078 a0001c0001t0001g0182 a0001c0001t0004g0059 a0001c0001t0001g0078 a0001c0001t0001g0182 a0001c0001t0004g0059	3	269	0.0112	18	c.81+ others(35): Show c.81+33428_81+33429insATATATATATATATATTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp1 HG01243.hp1 others(6): Show HG00099.hp2 HG01069.hp1 HG01243.hp1 HG01433.hp1 HG02886.hp2 HG03490.hp1 HG03704.hp2 HG04115.hp1 NA18906.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0008c0011t0001	a0001c0001t0001g0060 a0001c0001t0001g0106 a0001c0001t0001g0199 others(6): Show a0001c0001t0001g0060 a0001c0001t0001g0106 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0005g0185 a0001c0001t0010g0198 a0008c0011t0001g0201	9	269	0.0335	18	c.81+ others(35): Show c.81+33428_81+33429insATATATATATATATTTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02486.hp1 HG02630.hp1 others(4): Show HG00735.hp1 HG02486.hp1 HG02630.hp1 HG02735.hp1 HG03209.hp1 NA18522.hp1 NA19009.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0014 a0001c0001 a0007c0014	a0001c0001t0001 a0007c0014t0001 a0001c0001t0001 a0007c0014t0001	a0001c0001t0001g0044 a0001c0001t0001g0064 a0001c0001t0001g0202 others(4): Show a0001c0001t0001g0044 a0001c0001t0001g0064 a0001c0001t0001g0202 a0001c0001t0001g0235 a0001c0001t0001g0242 a0001c0001t0001g0265 a0007c0014t0001g0252	7	269	0.0260	18	c.81+ others(35): Show c.81+33428_81+33429insATATATATATATTTTTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A5_chrX_108434838_108702545	108473633	A A	ATATATAT others(11): Show ATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0181 a0001c0001t0008g0181	1	269	0.0037	18	c.81+ others(35): Show c.81+33428_81+33429insATATATATATTTTTTTTT	COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL4A6_chrX_108150614_108443422	108300724	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA19068.hp1 NA18967.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0020 a0002c0003t0001g0022 a0001c0001t0001g0020 a0002c0003t0001g0022	2	234	0.0086	18	c.144 others(37): Show c.144+10006_144+10023dupACACACACACACACACAC	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	3/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108343165	A A	ATATATAT others(11): Show ATATATATATAGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01978.hp1 HG01975.hp2 HG01978.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0003 a0002c0003t0002g0004 a0002c0003t0002g0003 a0002c0003t0002g0004	2	234	0.0086	18	c.64- others(35): Show c.64-32338_64-32337insACACACACTATATATATA	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL4A6_chrX_108150614_108443422	108377941	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0013 a0002c0003t0002g0013	1	234	0.0043	18	c.63+ others(35): Show c.63+59983_63+60000dupTTTTTTTTTTTTTTTTTT	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding	2/44			chrX	TogoVar
COL5A2_chr2_189026898_189184761	189059585	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01884.hp1 HG02055.hp1 others(11): Show HG01517.hp2 HG01884.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02922.hp1 HG03139.hp1 HG03516.hp2 HG03688.hp2 HG03942.hp2 NA18612.hp1 NA18969.hp1 NA18979.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0001t0022	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0074 others(11): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0157 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0007g0057 a0001c0001t0013g0013 a0001c0001t0022g0086	14	248	0.0565	18	c.208 others(35): Show c.2086-710_2086-693dupAAAAAAAAAAAAAAAAAA	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	31/53			chr2	TogoVar
COL5A2_chr2_189026898_189184761	189094588	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01257.hp1 HG01258.hp2 others(3): Show HG01106.hp2 HG01257.hp1 HG01258.hp2 HG01943.hp2 NA19030.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0030	a0001c0001t0003 a0001c0002t0002 a0001c0003t0001 others(1): Show a0001c0001t0003 a0001c0002t0002 a0001c0003t0001 a0001c0030t0016	a0001c0001t0003g0045 a0001c0001t0003g0127 a0001c0001t0003g0128 others(3): Show a0001c0001t0003g0045 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0002t0002g0016 a0001c0003t0001g0202 a0001c0030t0016g0017	6	248	0.0242	18	c.457 others(35): Show c.457-2186_457-2169dupGTGTGTGTGTGTGTGTGT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
COL5A3_chr19_9954561_10015504	9970441	T T	TGGGTGAG others(11): Show TGGGTGAGTGGGGTCTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp2 HG03486.hp2 others(1): Show HG02280.hp2 HG02572.hp2 HG03486.hp2 NA21309.hp2	a0051 a0055 a0065 others(1): Show a0051 a0055 a0065 a0082	a0051c0101 a0055c0066 a0065c0140 others(1): Show a0051c0101 a0055c0066 a0065c0140 a0082c0119	a0051c0101t0004 a0055c0066t0002 a0065c0140t0001 others(1): Show a0051c0101t0004 a0055c0066t0002 a0065c0140t0001 a0082c0119t0002	a0051c0101t0004g0039 a0055c0066t0002g0335 a0065c0140t0001g0304 others(1): Show a0051c0101t0004g0039 a0055c0066t0002g0335 a0065c0140t0001g0304 a0082c0119t0002g0390	4	412	0.0097	18	c.393 others(35): Show c.3936+163_3936+180dupCACAGACCCCACTCACCC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar

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