Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
CNTNAP3B_chr9_41885536_42134426	41934112	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0058 a0002c0010t0001g0058	1	83	0.0120	44	c.223 others(63): Show c.2237+4131_2237+4132insGTGTGTGTGTGTGTATATATATATAT ATATATATATATATATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	14/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	41934112	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0001	a0002c0023t0001g0053 a0002c0023t0001g0053	1	83	0.0120	44	c.223 others(63): Show c.2237+4131_2237+4132insGTGTGTGTGTGTATATATATATATAT ATATATATATATATATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	14/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	41934112	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02145.hp1 HG01081.hp1 HG02145.hp1	a0002 a0016 a0002 a0016	a0002c0015 a0016c0017 a0002c0015 a0016c0017	a0002c0015t0001 a0016c0017t0001 a0002c0015t0001 a0016c0017t0001	a0002c0015t0001g0045 a0016c0017t0001g0041 a0002c0015t0001g0045 a0016c0017t0001g0041	2	84	0.0238	44	c.223 others(63): Show c.2237+4131_2237+4132insGTGTGTGTATATATATATATATATAT ATATATATATATATATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	14/23			chr9	TogoVar
CNTNAP3B_chr9_41885536_42134426	42090783	C C	CATATGTG others(37): Show CATATGTGTGTGTGTATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00735.hp1 others(9): Show HG00280.hp1 HG00558.hp1 HG00735.hp1 HG01071.hp2 HG01081.hp2 HG02056.hp2 HG02135.hp1 NA18947.hp1 NA18949.hp2 NA18968.hp1 NA18974.hp1 NA19090.hp1	a0001 a0007 a0011 others(1): Show a0001 a0007 a0011 a0031	a0001c0001 a0001c0012 a0001c0043 others(3): Show a0001c0001 a0001c0012 a0001c0043 a0007c0008 a0011c0037 a0031c0035	a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0012t0002 a0001c0043t0015 a0007c0008t0009 a0011c0037t0007 a0031c0035t0007	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 others(9): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0018 a0001c0001t0003g0096 a0001c0001t0018g0026 a0001c0012t0002g0007 a0001c0043t0015g0013 a0007c0008t0009g0106 a0011c0037t0007g0008 a0031c0035t0007g0023	12	68	0.1765	44	c.197 others(63): Show c.197-13722_197-13721insATATATATATATATATATATATATAT ATATACACACACACATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	2/23			chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76470481	T T	TTTTATAT others(37): Show TTTTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0051	1	268	0.0037	44	c.165 others(63): Show c.1655+2958_1655+2959insTTTATATATATATATATATATATATA TATATATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23			chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124571527	C C	CTTTTTCT others(37): Show CTTTTTCTTTTTCTCTTTTTTTTCTTTTTTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02723.hp2 HG02293.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0002t0006 a0001c0001t0020 a0001c0002t0006	a0001c0001t0020g0014 a0001c0002t0006g0009 a0001c0001t0020g0014 a0001c0002t0006g0009	2	8	0.2500	44	c.175 others(63): Show c.1756+8209_1756+8210insCTTTTTCTCTTTTTTTTCTTTTTTCT TTTTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COG3_chr13_45459939_45541701	45508068	T T	TAAAAAAA others(37): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	81	0.0123	44	c.159 others(63): Show c.1595-1593_1595-1592insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39706215	T T	TTATATAT others(37): Show TTATATATATATATATACTCCTTTATATATATATATACTCCTTTA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19010.hp1 NA19065.hp2 others(1): Show NA18955.hp2 NA19010.hp1 NA19065.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0003 a0001c0012t0003 a0001c0001t0003 a0001c0012t0003	a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0082 others(1): Show a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0082 a0001c0012t0003g0078	4	24	0.1667	44	c.128 others(63): Show c.1284+6611_1284+6612insTACTCCTTTATATATATATATACTCC TTTATATATATATATATA	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39706255	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATTTAAATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG02056.hp2 others(2): Show HG00099.hp2 HG00609.hp1 HG02056.hp2 NA18612.hp2 NA18942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0006 a0001c0001t0001 a0001c0001t0004 a0002c0002t0006	a0001c0001t0001g0114 a0001c0001t0001g0158 a0001c0001t0001g0200 others(2): Show a0001c0001t0001g0114 a0001c0001t0001g0158 a0001c0001t0001g0200 a0001c0001t0004g0107 a0002c0002t0006g0341	5	31	0.1613	44	c.128 others(63): Show c.1284+6660_1284+6661insATATATATATATTTAAATATATATAT ATATATATATATATATAT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39706255	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATTTAAATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03491.hp2 HG02683.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0172 a0001c0001t0001g0099 a0001c0001t0001g0172	2	28	0.0714	44	c.128 others(63): Show c.1284+6660_1284+6661insATATATATATTTAAATATATATATAT ATATATATATATATATAT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39706255	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATTTAAATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	27	0.0370	44	c.128 others(63): Show c.1284+6660_1284+6661insATATATATTTAAATATATATATATAT ATATATATATATATATAT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL13A1_chr10_69796906_69964144	69810376	G G	GAGAGAGA others(37): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACACAGAGAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01123.hp2 NA18939.hp2 others(2): Show HG00639.hp2 HG01123.hp2 NA18939.hp2 NA18981.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0052 a0001c0001t0001g0118 a0001c0001t0001g0120 others(2): Show a0001c0001t0001g0052 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0003t0002g0117 a0001c0003t0002g0119	5	244	0.0205	44	c.294 others(61): Show c.294+7664_294+7665insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GACACAGAGACAGAGA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL14A1_chr8_120120102_120378573	120200046	A A	AAAGCATA others(37): Show AAAGCATATATATATATATATATATATATATAAGCATATATATGT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02055.hp1 others(3): Show HG01070.hp1 HG01071.hp2 HG02055.hp1 HG02145.hp1 HG02895.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0142 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0142 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0002g0049	6	137	0.0438	44	c.877 others(59): Show c.877+497_877+498insTATATATATATATAAGCATATATATGTAAG CATATATATATATA	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	8/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL18A1_chr21_45400165_45518720	45501743	A A	ACAGCCGG others(37): Show ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0004 a0004	a0004c0030 a0004c0030	a0004c0030t0002 a0004c0030t0002	a0004c0030t0002g0148 a0004c0030t0002g0148	1	290	0.0034	44	c.268 others(63): Show c.2684-2237_2684-2236insTCAGGGGCCTCCGCAGCCGGTCACCT CCCTCTGCAGAAGGACCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501829	A A	ACAGCCGG others(37): Show ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0002 a0006c0016t0002	a0006c0016t0002g0292 a0006c0016t0002g0292	1	287	0.0035	44	c.268 others(63): Show c.2684-2151_2684-2150insTCAGGGGCCTCCGCAGCCGGTCACCT CCCTCTGCAGAAGGACCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501851	A A	AGAAGGAC others(37): Show AGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0001 a0006c0016t0001	a0006c0016t0001g0062 a0006c0016t0001g0062	1	283	0.0035	44	c.268 others(63): Show c.2684-2151_2684-2150insTCAGGGGCCTCCGCAGCCGGTCACCT CCCTCTGCCGAAGGACCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45502089	A A	ACAGCCGG others(37): Show ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03041.hp2 NA19043.hp2 HG00609.hp2 HG03041.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0051 a0001c0084 a0001c0001 a0001c0051 a0001c0084	a0001c0001t0001 a0001c0051t0001 a0001c0084t0001 a0001c0001t0001 a0001c0051t0001 a0001c0084t0001	a0001c0001t0001g0107 a0001c0051t0001g0248 a0001c0084t0001g0023 a0001c0001t0001g0107 a0001c0051t0001g0248 a0001c0084t0001g0023	3	192	0.0156	44	c.268 others(63): Show c.2684-1891_2684-1890insTCAGGGGCCTCCGCAGCCGGTCACCT CCCTCTGCAGAAGGACCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45502089	A A	ACAGCCGG others(37): Show ACAGCCGGTCACCTCCCTCTGCCGAAGGACCCTCAGGGGCCTCCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG02630.hp1 others(1): Show HG02257.hp2 HG02559.hp1 HG02630.hp1 HG02895.hp1	a0011 a0012 a0011 a0012	a0011c0049 a0011c0099 a0012c0037 a0011c0049 a0011c0099 a0012c0037	a0011c0049t0001 a0011c0099t0004 a0012c0037t0009 a0011c0049t0001 a0011c0099t0004 a0012c0037t0009	a0011c0049t0001g0198 a0011c0099t0004g0199 a0012c0037t0009g0200 others(1): Show a0011c0049t0001g0198 a0011c0099t0004g0199 a0012c0037t0009g0200 a0012c0037t0009g0201	4	193	0.0207	44	c.268 others(63): Show c.2684-1901_2684-1900insCGAAGGACCCTCAGGGGCCTCCGCAG CCGGTCACCTCCCTCTGC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45502111	A A	AGAAGGAC others(37): Show AGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0209 a0001c0013t0002g0209	1	281	0.0036	44	c.268 others(63): Show c.2684-1891_2684-1890insTCAGGGGCCTCCGCAGCCGGTCACCT CCCTCTGCCGAAGGACCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL21A1_chr6_56051590_56252580	56098586	A A	AATATATA others(37): Show AATATATATAAATATATATATAAATATATAAATATATATATAAAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0048 a0001c0001t0003g0045 a0001c0001t0003g0048	2	186	0.0108	44	c.181 others(63): Show c.1812+2885_1812+2886insATTTATATATATATTTATATATTTAT ATATATATTTATATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL22A1_chr8_138583235_138919041	138676454	A A	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01099.hp2 HG01433.hp2 others(1): Show HG00597.hp2 HG01099.hp2 HG01433.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0056 a0001c0001 a0001c0002 a0001c0056	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0056t0004	a0001c0001t0001g0052 a0001c0001t0003g0003 a0001c0002t0001g0047 others(1): Show a0001c0001t0001g0052 a0001c0001t0003g0003 a0001c0002t0001g0047 a0001c0056t0004g0040	4	89	0.0449	44	c.315 others(61): Show c.3150+103_3150+104insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	41/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138712631	T T	TCAGCAGA others(37): Show TCAGCAGAGGGTATGTGTTCTATCAGCATAGGGTAAGGGTTCTGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00597.hp2 others(132): Show HG00280.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18985.hp1 NA18985.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0001c0002 a0001c0006 others(52): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0010 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0026 a0001c0028 a0001c0044 a0001c0045 a0001c0048 a0001c0056 a0001c0057 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0009 a0002c0011 a0002c0022 a0002c0023 a0002c0025 a0002c0029 a0002c0052 a0002c0059 a0002c0060 a0003c0013 a0003c0020 a0003c0031 a0003c0033 a0003c0035 a0004c0019 a0004c0032 a0004c0040 a0004c0041 a0005c0021 a0005c0051 a0005c0061 a0006c0037 a0006c0038 a0007c0050 a0008c0036 a0009c0039 a0010c0042 a0011c0058 a0012c0047 a0013c0043 a0014c0049 a0015c0055 a0016c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(87): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0001c0010t0001 a0001c0010t0007 a0001c0012t0001 a0001c0012t0002 a0001c0012t0005 a0001c0012t0010 a0001c0014t0011 a0001c0015t0001 a0001c0015t0002 a0001c0016t0001 a0001c0017t0005 a0001c0017t0007 a0001c0018t0001 a0001c0018t0004 a0001c0026t0001 a0001c0028t0001 a0001c0028t0003 a0001c0044t0002 a0001c0045t0001 a0001c0048t0001 a0001c0056t0004 a0001c0057t0009 a0002c0003t0001 a0002c0003t0003 a0002c0003t0007 a0002c0004t0001 a0002c0004t0002 a0002c0004t0004 a0002c0004t0006 a0002c0004t0008 a0002c0005t0001 a0002c0005t0002 a0002c0005t0003 a0002c0005t0009 a0002c0007t0001 a0002c0007t0003 a0002c0007t0008 a0002c0009t0001 a0002c0009t0002 a0002c0011t0001 a0002c0011t0005 a0002c0011t0012 a0002c0022t0001 a0002c0022t0002 a0002c0023t0001 a0002c0025t0004 a0002c0029t0002 a0002c0052t0002 a0002c0059t0001 a0002c0060t0004 a0003c0013t0001 a0003c0013t0003 a0003c0020t0003 a0003c0020t0007 a0003c0031t0004 a0003c0033t0002 a0003c0035t0006 a0004c0019t0001 a0004c0019t0014 a0004c0032t0001 a0004c0040t0004 a0004c0041t0002 a0005c0021t0001 a0005c0051t0001 a0005c0061t0001 a0006c0037t0008 a0006c0038t0004 a0007c0050t0002 a0008c0036t0002 a0009c0039t0001 a0010c0042t0013 a0011c0058t0002 a0012c0047t0001 a0013c0043t0001 a0014c0049t0006 a0015c0055t0005 a0016c0030t0004	a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0081 others(132): Show a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0002g0020 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0005g0142 a0001c0001t0006g0108 a0001c0001t0006g0115 a0001c0002t0001g0017 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0050 a0001c0002t0001g0070 a0001c0002t0001g0075 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0125 a0001c0002t0002g0027 a0001c0002t0002g0044 a0001c0002t0005g0141 a0001c0002t0005g0147 a0001c0002t0005g0153 a0001c0002t0007g0156 a0001c0006t0001g0062 a0001c0006t0001g0064 a0001c0006t0001g0112 a0001c0006t0002g0033 a0001c0006t0002g0065 a0001c0008t0001g0042 a0001c0008t0002g0030 a0001c0008t0002g0088 a0001c0008t0002g0091 a0001c0008t0002g0134 a0001c0010t0001g0029 a0001c0010t0001g0031 a0001c0010t0001g0109 a0001c0010t0007g0155 a0001c0012t0001g0038 a0001c0012t0002g0061 a0001c0012t0005g0143 a0001c0012t0010g0011 a0001c0014t0011g0089 a0001c0015t0001g0069 a0001c0015t0001g0073 a0001c0015t0002g0116 a0001c0016t0001g0087 a0001c0016t0001g0133 a0001c0017t0005g0148 a0001c0017t0007g0149 a0001c0018t0001g0056 a0001c0018t0001g0074 a0001c0018t0004g0085 a0001c0026t0001g0039 a0001c0026t0001g0063 a0001c0028t0001g0036 a0001c0028t0003g0005 a0001c0044t0002g0077 a0001c0045t0001g0078 a0001c0048t0001g0126 a0001c0056t0004g0040 a0001c0057t0009g0049 a0002c0003t0001g0024 a0002c0003t0001g0067 a0002c0003t0001g0098 a0002c0003t0001g0111 a0002c0003t0003g0004 a0002c0003t0003g0012 a0002c0003t0007g0157 a0002c0004t0001g0123 a0002c0004t0002g0097 a0002c0004t0004g0084 a0002c0004t0006g0132 a0002c0004t0008g0022 a0002c0004t0008g0100 a0002c0005t0001g0068 a0002c0005t0002g0048 a0002c0005t0002g0086 a0002c0005t0003g0007 a0002c0005t0003g0008 a0002c0005t0009g0136 a0002c0007t0001g0129 a0002c0007t0001g0138 a0002c0007t0003g0010 a0002c0007t0008g0028 a0002c0009t0001g0072 a0002c0009t0001g0105 a0002c0009t0001g0114 a0002c0009t0002g0095 a0002c0011t0001g0018 a0002c0011t0005g0146 a0002c0011t0012g0139 a0002c0022t0001g0041 a0002c0022t0002g0026 a0002c0023t0001g0037 a0002c0025t0004g0104 a0002c0029t0002g0058 a0002c0052t0002g0060 a0002c0059t0001g0051 a0002c0060t0004g0107 a0003c0013t0001g0118 a0003c0013t0003g0001 a0003c0013t0003g0006 a0003c0020t0003g0014 a0003c0020t0007g0152 a0003c0031t0004g0032 a0003c0033t0002g0016 a0003c0035t0006g0076 a0004c0019t0001g0131 a0004c0019t0014g0154 a0004c0032t0001g0128 a0004c0040t0004g0035 a0004c0041t0002g0043 a0005c0021t0001g0071 a0005c0021t0001g0080 a0005c0051t0001g0055 a0005c0061t0001g0106 a0006c0037t0008g0079 a0006c0038t0004g0034 a0007c0050t0002g0127 a0008c0036t0002g0090 a0009c0039t0001g0135 a0010c0042t0013g0140 a0011c0058t0002g0092 a0012c0047t0001g0099 a0013c0043t0001g0054 a0014c0049t0006g0066 a0015c0055t0005g0150 a0016c0030t0004g0025	135	156	0.8654	44	c.251 others(63): Show c.2517+3007_2517+3050dupGCAGAACCCTTACCCTATGCTGATAG AACACATACCCTCTGCTG	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	30/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178258262	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0012 a0003c0007t0001g0012	1	138	0.0072	44	c.730 others(59): Show c.730-696_730-695insGTGTGTATATATATATATATATATATATAT ATATATATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	12/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178258262	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0098 a0003c0007t0001g0098	1	138	0.0072	44	c.730 others(59): Show c.730-696_730-695insGTGTATATATATATATATATATATATATAT ATATATATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	12/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178258262	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0004 a0002c0003t0001g0004	1	138	0.0072	44	c.730 others(59): Show c.730-696_730-695insGTATATATATATATATATATATATATATAT ATATATATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	12/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178269486	C C	CCCATCCA others(37): Show CCCATCCACCCATCCACCCATCCATCCACCCATCCACCCACCCAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(95): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG01074.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp2 NA18964.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0005 a0001c0017 others(12): Show a0001c0001 a0001c0005 a0001c0017 a0002c0002 a0002c0003 a0002c0013 a0003c0004 a0003c0007 a0004c0006 a0005c0008 a0005c0014 a0006c0010 a0007c0016 a0008c0015 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 a0001c0017t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0006 a0002c0003t0013 a0002c0013t0003 a0003c0004t0003 a0003c0004t0005 a0003c0007t0001 a0004c0006t0003 a0005c0008t0002 a0005c0014t0002 a0006c0010t0002 a0007c0016t0012 a0008c0015t0002 a0009c0012t0002	a0001c0001t0001g0091 a0001c0001t0002g0048 a0001c0001t0002g0148 others(95): Show a0001c0001t0001g0091 a0001c0001t0002g0048 a0001c0001t0002g0148 a0001c0001t0003g0018 a0001c0001t0003g0027 a0001c0001t0003g0070 a0001c0001t0003g0116 a0001c0001t0003g0119 a0001c0001t0003g0159 a0001c0001t0003g0166 a0001c0001t0003g0182 a0001c0001t0004g0022 a0001c0001t0004g0029 a0001c0001t0004g0037 a0001c0001t0004g0043 a0001c0001t0004g0054 a0001c0001t0004g0065 a0001c0001t0004g0072 a0001c0001t0004g0092 a0001c0001t0004g0184 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0197 a0001c0001t0004g0201 a0001c0001t0004g0203 a0001c0001t0005g0113 a0001c0001t0005g0133 a0001c0001t0005g0144 a0001c0001t0005g0147 a0001c0001t0005g0161 a0001c0005t0001g0007 a0001c0005t0004g0111 a0001c0005t0004g0223 a0001c0005t0005g0059 a0001c0005t0005g0060 a0001c0017t0006g0234 a0002c0002t0001g0001 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0040 a0002c0002t0001g0051 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0090 a0002c0002t0001g0176 a0002c0002t0001g0186 a0002c0002t0001g0191 a0002c0002t0001g0198 a0002c0002t0001g0219 a0002c0002t0002g0149 a0002c0002t0010g0228 a0002c0003t0001g0004 a0002c0003t0002g0104 a0002c0003t0002g0121 a0002c0003t0002g0138 a0002c0003t0002g0140 a0002c0003t0002g0206 a0002c0003t0002g0209 a0002c0003t0003g0126 a0002c0003t0003g0158 a0002c0003t0003g0195 a0002c0003t0004g0192 a0002c0003t0004g0205 a0002c0003t0004g0221 a0002c0003t0005g0068 a0002c0003t0005g0087 a0002c0003t0005g0115 a0002c0003t0005g0131 a0002c0003t0005g0151 a0002c0003t0006g0229 a0002c0003t0013g0114 a0002c0013t0003g0124 a0003c0004t0003g0010 a0003c0004t0003g0125 a0003c0004t0005g0208 a0003c0007t0001g0013 a0003c0007t0001g0030 a0003c0007t0001g0154 a0004c0006t0003g0062 a0004c0006t0003g0130 a0004c0006t0003g0143 a0004c0006t0003g0171 a0005c0008t0002g0003 a0005c0008t0002g0024 a0005c0008t0002g0053 a0005c0008t0002g0093 a0005c0008t0002g0095 a0005c0008t0002g0155 a0005c0008t0002g0187 a0005c0014t0002g0017 a0006c0010t0002g0117 a0007c0016t0012g0080 a0008c0015t0002g0109 a0009c0012t0002g0162	98	236	0.4153	44	c.469 others(59): Show c.469-731_469-730insATGGGTGGGTGGATGGGTGGATGGATGGGT GGATGGGTGGATGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	6/28			chr5	TogoVar
COL27A1_chr9_114150537_114317511	114253295	A A	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp1 NA19240.hp1 HG02615.hp2 HG03130.hp1 NA19240.hp1	a0005 a0010 a0041 a0005 a0010 a0041	a0005c0030 a0010c0042 a0041c0174 a0005c0030 a0010c0042 a0041c0174	a0005c0030t0003 a0010c0042t0008 a0041c0174t0002 a0005c0030t0003 a0010c0042t0008 a0041c0174t0002	a0005c0030t0003g0023 a0010c0042t0008g0093 a0041c0174t0002g0009 a0005c0030t0003g0023 a0010c0042t0008g0093 a0041c0174t0002g0009	3	132	0.0227	44	c.314 others(61): Show c.3141+388_3141+389insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGA	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	27/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL4A1_chr13_110143963_110312157	110219842	A A	ATGTGTAT others(37): Show ATGTGTATATATATGTATATATGTGTGTATATATGTATATATATG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0214 a0002c0011t0001g0214	1	329	0.0030	44	c.145 others(61): Show c.145-5828_145-5827insCATATATATACATATATACACACATATA TACATATATATACACA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227193887	G G	GGAAGGAA others(37): Show GGAAGGAAGGAAGGAAGGAAGGAAGGGGAGGGAGGGAGGGAAGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02698.hp1 HG03540.hp1 others(4): Show HG02055.hp2 HG02698.hp1 HG03540.hp1 HG04115.hp2 NA18906.hp1 NA20905.hp1 NA21309.hp1	a0002 a0006 a0009 others(1): Show a0002 a0006 a0009 a0012	a0002c0004 a0002c0007 a0006c0013 others(2): Show a0002c0004 a0002c0007 a0006c0013 a0009c0008 a0012c0022	a0002c0004t0008 a0002c0007t0001 a0006c0013t0009 others(2): Show a0002c0004t0008 a0002c0007t0001 a0006c0013t0009 a0009c0008t0001 a0012c0022t0001	a0002c0004t0008g0331 a0002c0007t0001g0059 a0002c0007t0001g0068 others(4): Show a0002c0004t0008g0331 a0002c0007t0001g0059 a0002c0007t0001g0068 a0006c0013t0009g0140 a0006c0013t0009g0226 a0009c0008t0001g0253 a0012c0022t0001g0004	7	308	0.0227	44	c.87+ others(61): Show c.87+29074_87+29075insGAAGGAAGGAAGGAAGGAAGGAAGGGGA GGGAGGGAGGGAAGGA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202846	C C	CACATATA others(37): Show CACATATATGTGTATATATGTGTATATATACACATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0083 a0005c0005t0002g0083	1	301	0.0033	44	c.88- others(61): Show c.88-35121_88-35120insCATATATGTGTATATATGTGTATATATA CACATATATGTGTATA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203180	T T	TATATACA others(37): Show TATATACACATATATGTGTATATACGTGTATGTGTATATATACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0014 a0006c0010t0001g0014	1	332	0.0030	44	c.88- others(61): Show c.88-34786_88-34785insATACACATATATGTGTATATACGTGTAT GTGTATATATACACAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203663	G G	GTGTATAT others(37): Show GTGTATATATACATATATGTGTATATATGTGTATATATACATATA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	324	0.0031	44	c.88- others(61): Show c.88-34302_88-34301insATATATACATATATGTGTATATATGTGT ATATATACATATATGT	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(37): Show ATATATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0009 a0006c0013t0009	a0006c0013t0009g0226 a0006c0013t0009g0226	1	56	0.0179	44	c.546 others(59): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATATATTTTTTT	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(37): Show ATATATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18957.hp1 HG02486.hp1 NA18957.hp1	a0004 a0006 a0004 a0006	a0004c0003 a0006c0016 a0004c0003 a0006c0016	a0004c0003t0003 a0006c0016t0001 a0004c0003t0003 a0006c0016t0001	a0004c0003t0003g0282 a0006c0016t0001g0225 a0004c0003t0003g0282 a0006c0016t0001g0225	2	57	0.0351	44	c.546 others(59): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATATTTTTTTTT	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(37): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18980.hp1 NA18963.hp2 NA18980.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0003 a0003c0002t0003 a0001c0001t0003 a0003c0002t0003	a0001c0001t0003g0269 a0003c0002t0003g0190 a0001c0001t0003g0269 a0003c0002t0003g0190	2	57	0.0351	44	c.546 others(59): Show c.546+711_546+712insATATATATATATATATATATATATATATAT ATATTTTTTTTTTT	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(37): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0002 a0013c0015t0002	a0013c0015t0002g0075 a0013c0015t0002g0075	1	56	0.0179	44	c.546 others(59): Show c.546+711_546+712insATATATATATATATATATATATATATTTTT TTTTTTTTTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL5A2_chr2_189026898_189184761	189094588	G G	GACACACA others(37): Show GACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01978.hp2 HG02145.hp1 others(7): Show HG00609.hp1 HG01978.hp2 HG02145.hp1 HG03195.hp2 HG03486.hp1 HG04228.hp2 NA18998.hp2 NA19001.hp1 NA19043.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0001 a0004c0009t0001 a0001c0001t0001 a0004c0009t0001	a0001c0001t0001g0012 a0001c0001t0001g0050 a0001c0001t0001g0055 others(7): Show a0001c0001t0001g0012 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0081 a0001c0001t0001g0095 a0001c0001t0001g0109 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0230 a0004c0009t0001g0019	10	29	0.3448	44	c.457 others(61): Show c.457-2212_457-2169dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
COL6A1_chr21_45976770_46010048	45977311	C C	CTCCCACC others(37): Show CTCCCACCCCTCTCCCCCTCCCCCCTCTTCCCACCCCCTCCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0125 a0001c0001t0011g0125	1	3	0.3333	44	c.-45 others(55): Show c.-4540_-4539insTCCCACCCCTCTCCCCCTCCCCCCTCTTCCCACC CCCTCCCCTG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		4458		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45977311	C C	CTCCCACC others(37): Show CTCCCACCCCTCTCCCCCTCCCCCTCTTCCCACCCCCTCCCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0124 a0001c0003t0003g0124	1	3	0.3333	44	c.-45 others(55): Show c.-4540_-4539insTCCCACCCCTCTCCCCCTCCCCCTCTTCCCACCC CCTCCCCCTG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		4458		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45977311	C C	CTCCCACC others(37): Show CTCCCACCCTCCTCCCCCTCCCCCCTCTTCCCACCCCCTCCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	3	0.3333	44	c.-45 others(55): Show c.-4540_-4539insTCCCACCCTCCTCCCCCTCCCCCCTCTTCCCACC CCCTCCCCTG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		4458		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45977311	C C	CTCCCACC others(37): Show CTCCCACCCTCTCCCCCCTCCCCCCTCTTCCCACCCCCTCCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0077 a0002c0008t0001g0077	1	3	0.3333	44	c.-45 others(55): Show c.-4540_-4539insTCCCACCCTCTCCCCCCTCCCCCCTCTTCCCACC CCCTCCCCTG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		4458		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45977311	C C	CTCCCACC others(37): Show CTCCCACCCTCTCCCCCTCCCCCCTCTTCCCACCCCCCTCCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01981.hp1 HG02572.hp2 HG01934.hp2 HG01981.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0007 a0001c0001t0002 a0001c0003t0007	a0001c0001t0002g0007 a0001c0001t0002g0091 a0001c0003t0007g0109 a0001c0001t0002g0007 a0001c0001t0002g0091 a0001c0003t0007g0109	3	5	0.6000	44	c.-45 others(55): Show c.-4540_-4539insTCCCACCCTCTCCCCCTCCCCCCTCTTCCCACCC CCCTCCCCTG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		4458		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45977311	C C	CTCCCACC others(37): Show CTCCCACCCTCTCCGCCCTCCCCCCTCTTCCCACCCCCTCCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0014 a0008c0016t0014	a0008c0016t0014g0090 a0008c0016t0014g0090	1	3	0.3333	44	c.-45 others(55): Show c.-4540_-4539insTCCCACCCTCTCCGCCCTCCCCCCTCTTCCCACC CCCTCCCCTG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		4458		chr21	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	129	0.0078	44	c.-11 others(55): Show c.-1118_-1117insAAAATATATATATATATATATATATATATATATA TATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	129	0.0078	44	c.-11 others(55): Show c.-1118_-1117insAAAAAAAAAAAATATATATATATATATATATATA TATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	129	0.0078	44	c.-11 others(55): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAATATATATATATATATA TATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0112	1	129	0.0078	44	c.-11 others(55): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAATATATATATATATA TATATATATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COLEC12_chr18_311737_505701	312207	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0280 a0001c0003t0011g0280	1	178	0.0056	44	c.78 others(55): Show c.7837_*7838insATATATATATATATATATATATATATATATATAT ATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4529		chr18	TogoVar
COMMD1_chr2_61900674_62141058	62063868	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	24	0.0417	44	c.462 others(63): Show c.462+62916_462+62917insATATATATATATATATATATATATAT ATATATATATATATATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62095807	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18955.hp2 NA18947.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0114 a0001c0001t0001g0048 a0001c0001t0001g0114	2	106	0.0189	44	c.463 others(63): Show c.463-40010_463-40009insATATATATATATATATATATATATAT ATATATATATATATATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar

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