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
COA1_chr7_43634257_43734523	43691414	A A	AGGAAGGA others(25): Show AGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	382	0.0026	32	c.-39 others(51): Show c.-39+38014_-39+38015insCTTCTTTCTTCCTTCCTTCCTTCCTT CCTTCC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43710375	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0357 a0001c0001t0001g0357	1	82	0.0122	32	c.-39 others(51): Show c.-39+19053_-39+19054insATATATATATATATATATATATATAT ATTTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA6_chr1_234368456_234390080	234383036	A A	AAGGGAGG others(25): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	185	0.0054	32	c.373 others(47): Show c.373-685_373-654dupGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GA	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
COBLL1_chr2_164675188_164846823	164725114	A A	ATATATAT others(25): Show ATATATATACATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0005 a0005	a0005c0029 a0005c0029	a0005c0029t0016 a0005c0029t0016	a0005c0029t0016g0203 a0005c0029t0016g0203	1	208	0.0048	32	c.662 others(49): Show c.662-2593_662-2592insCATATATATATATATATATATATGTATA TATA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	5/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51070392	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0013 a0003c0001t0013	a0003c0001t0013g0185 a0003c0001t0013g0185	1	82	0.0122	32	c.109 others(53): Show c.1096+14742_1096+14773dupGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51098224	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0003 a0001c0029t0003	a0001c0029t0003g0054 a0001c0029t0003g0054	1	84	0.0119	32	c.958 others(51): Show c.958-12921_958-12920insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COG3_chr13_45459939_45541701	45479385	A A	AGGAGAAA others(25): Show AGGAGAAACATCCCTGAAAGACTTTCAGGATGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0321 a0001c0002t0001g0321	1	340	0.0029	32	c.383 others(47): Show c.383+320_383+351dupGGAGAAACATCCCTGAAAGACTTTCAGGAT GG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39706255	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATTTAAATA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	27	0.0370	32	c.128 others(51): Show c.1284+6660_1284+6661insATTTAAATATATATATATATATATAT ATATAT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL12A1_chr6_75079326_75211053	75208156	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	184	0.0054	32	c.-24 others(43): Show c.-2416_-2415insAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2104		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208160	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	189	0.0053	32	c.-24 others(43): Show c.-2420_-2419insAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2108		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208162	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01071.hp2 HG00408.hp2 HG01071.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0095 a0004c0004t0001g0083 a0001c0001t0001g0095 a0004c0004t0001g0083	2	185	0.0108	32	c.-24 others(43): Show c.-2422_-2421insAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2110		chr6	TogoVar
COL13A1_chr10_69796906_69964144	69810346	A A	AAGAGAGA others(25): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	313	0.0032	32	c.294 others(49): Show c.294+7629_294+7630insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	1/40			chr10	TogoVar
COL13A1_chr10_69796906_69964144	69810376	G G	GAGAGAGA others(25): Show GAGAGAGAGAGAGAGAGACACAGAGACAGAGAC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0142 a0001c0003t0001g0142	1	240	0.0042	32	c.294 others(49): Show c.294+7664_294+7665insGAGAGAGAGAGACACAGAGACAGAGACA GAGA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69810376	G G	GAGAGAGA others(25): Show GAGAGAGAGAGAGAGAGAGAGAGACACAGAGAC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	240	0.0042	32	c.294 others(49): Show c.294+7664_294+7665insGAGAGAGAGAGAGAGAGACACAGAGACA GAGA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69949931	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGCATGTGTTTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01358.hp1 HG02165.hp2 others(3): Show HG01346.hp1 HG01358.hp1 HG02165.hp2 HG03239.hp1 HG03669.hp1 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0018 a0001c0001 a0001c0002 a0006c0018	a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0006 a0001c0002t0015 a0006c0018t0006	a0001c0001t0002g0075 a0001c0001t0006g0063 a0001c0002t0001g0249 others(3): Show a0001c0001t0002g0075 a0001c0001t0006g0063 a0001c0002t0001g0249 a0001c0002t0006g0287 a0001c0002t0015g0255 a0006c0018t0006g0007	6	319	0.0188	32	c.205 others(51): Show c.2058+2604_2058+2605insCATGTGTTTGTGTGTGCGTGTGTGTG TGTGTG	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	38/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69949931	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	314	0.0032	32	c.205 others(51): Show c.2058+2606_2058+2607insTGTGTGTGTGTGTGCGTGTGTGTGTG TGTGTG	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	38/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69949950	G G	GTGTGTTT others(25): Show GTGTGTTTGTGTGTGCGTGTGTGTGTGTGTGCA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00733.hp2 HG01081.hp1 others(31): Show HG00673.hp2 HG00733.hp2 HG01081.hp1 HG01192.hp2 HG01255.hp1 HG01891.hp1 HG02027.hp1 HG02083.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp2 HG04184.hp1 NA18522.hp2 NA18986.hp1 NA19074.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0005 a0002c0008 a0002c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0016 a0001c0004t0001 a0001c0007t0001 a0002c0005t0001 a0002c0005t0002 a0002c0008t0001 a0002c0031t0012	a0001c0001t0001g0021 a0001c0001t0001g0060 a0001c0001t0001g0107 others(31): Show a0001c0001t0001g0021 a0001c0001t0001g0060 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0136 a0001c0001t0001g0151 a0001c0001t0002g0023 a0001c0001t0007g0006 a0001c0001t0009g0140 a0001c0002t0001g0170 a0001c0002t0001g0184 a0001c0002t0001g0207 a0001c0002t0001g0213 a0001c0002t0001g0219 a0001c0002t0001g0286 a0001c0002t0003g0233 a0001c0002t0003g0236 a0001c0002t0003g0238 a0001c0002t0003g0246 a0001c0002t0003g0250 a0001c0002t0003g0251 a0001c0002t0004g0295 a0001c0002t0004g0299 a0001c0002t0004g0305 a0001c0002t0004g0307 a0001c0002t0004g0310 a0001c0002t0009g0209 a0001c0002t0016g0242 a0001c0004t0001g0228 a0001c0007t0001g0210 a0002c0005t0001g0169 a0002c0005t0002g0168 a0002c0008t0001g0148 a0002c0031t0012g0153	34	290	0.1172	32	c.205 others(51): Show c.2058+2638_2058+2639insCATGTGTTTGTGTGTGCGTGTGTGTG TGTGTG	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	38/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69949967	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGCATGTGTTTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG00639.hp2 others(41): Show HG00408.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG02083.hp1 HG02300.hp2 HG02523.hp2 HG02683.hp1 HG03017.hp1 HG03017.hp2 HG03490.hp2 HG03654.hp2 HG03831.hp2 NA18939.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18959.hp1 NA18964.hp2 NA18980.hp1 NA18981.hp2 NA18986.hp2 NA18992.hp1 NA18998.hp2 NA19002.hp1 NA19009.hp2 NA19011.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19087.hp1 NA19088.hp1 NA19091.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0011 a0004c0020	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0009t0005 a0001c0011t0002 a0004c0020t0002	a0001c0001t0001g0052 a0001c0001t0001g0134 a0001c0001t0002g0016 others(41): Show a0001c0001t0001g0052 a0001c0001t0001g0134 a0001c0001t0002g0016 a0001c0001t0002g0033 a0001c0001t0002g0048 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0087 a0001c0001t0002g0102 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0002t0002g0158 a0001c0002t0002g0229 a0001c0002t0002g0231 a0001c0002t0005g0261 a0001c0003t0001g0019 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0072 a0001c0003t0001g0125 a0001c0003t0001g0142 a0001c0003t0002g0050 a0001c0003t0002g0097 a0001c0003t0002g0106 a0001c0003t0002g0109 a0001c0003t0002g0119 a0001c0003t0002g0130 a0001c0003t0002g0131 a0001c0003t0002g0135 a0001c0003t0002g0145 a0001c0003t0002g0147 a0001c0003t0002g0185 a0001c0003t0002g0190 a0001c0004t0001g0280 a0001c0004t0002g0155 a0001c0004t0002g0220 a0001c0004t0002g0276 a0001c0004t0002g0283 a0001c0004t0002g0322 a0001c0004t0005g0270 a0001c0009t0005g0239 a0001c0011t0002g0022 a0004c0020t0002g0090	44	315	0.1397	32	c.205 others(51): Show c.2058+2636_2058+2667dupGTGTGCATGTGTTTGTGTGTGCGTGT GTGTGT	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	38/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69949968	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGCATGTGTTTGTGTGTGCC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0117 a0001c0003t0002g0117	1	322	0.0031	32	c.205 others(51): Show c.2058+2657_2058+2658insCTGTGTGTGTGTGTGCATGTGTTTGT GTGTGC	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	38/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL14A1_chr8_120120102_120378573	120173564	C C	CATCTATC others(25): Show CATCTATCTATCTATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02145.hp2 HG02165.hp2 others(6): Show HG00140.hp2 HG02145.hp2 HG02165.hp2 HG02622.hp1 NA18951.hp2 NA18982.hp2 NA18984.hp1 NA19062.hp1 NA19074.hp2	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0001c0015 a0002c0002 a0015c0039	a0001c0001t0001 a0001c0003t0001 a0001c0003t0019 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0019 a0001c0007t0001 a0001c0015t0003 a0002c0002t0001 a0002c0002t0003 a0015c0039t0001	a0001c0001t0001g0171 a0001c0003t0001g0180 a0001c0003t0019g0057 others(6): Show a0001c0001t0001g0171 a0001c0003t0001g0180 a0001c0003t0019g0057 a0001c0007t0001g0063 a0001c0015t0003g0096 a0002c0002t0001g0011 a0002c0002t0001g0119 a0002c0002t0003g0192 a0015c0039t0001g0133	9	100	0.0900	32	c.436 others(49): Show c.436+5340_436+5341insTATCTATCTATCTATCTATCTATCTATC TATC	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	5/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL14A1_chr8_120120102_120378573	120200046	A A	AAAGCATA others(25): Show AAAGCATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0024 a0002c0006t0002g0024	1	132	0.0076	32	c.877 others(47): Show c.877+497_877+498insTATATATATATATATAAGCATATATATATA TA	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	8/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL14A1_chr8_120120102_120378573	120200048	A A	AGCATATA others(25): Show AGCATATATATATGCATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0002 a0003c0010t0002	a0003c0010t0002g0048 a0003c0010t0002g0048	1	158	0.0063	32	c.877 others(47): Show c.877+494_877+495insGCATATATATATATATATATGCATATATAT AT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	8/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL16A1_chr1_31647263_31709017	31707385	T T	TTTTCTTT others(25): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01952.hp1 HG02257.hp2 HG01123.hp1 HG01952.hp1 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0025 a0002c0002 a0002c0025	a0002c0002t0002 a0002c0025t0001 a0002c0002t0002 a0002c0025t0001	a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0025t0001g0041 a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0025t0001g0041	3	201	0.0149	32	c.-35 others(43): Show c.-3584_-3583insGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAA	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		3369		chr1	TogoVar
COL18A1_chr21_45400165_45518720	45431340	T T	TGGACCCG others(25): Show TGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0159 a0001c0002t0002g0159	1	289	0.0035	32	c.106 others(51): Show c.106+25922_106+25953dupGGGGCAGGCAGGACCCGGCGGCCCAG GGGAGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45437456	A A	ACACACAG others(25): Show ACACACAGGCACTCTCCTGCACACACTCACACT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01243.hp1 HG02922.hp1 HG00733.hp1 HG01243.hp1 HG02922.hp1	a0001 a0003 a0001 a0003	a0001c0017 a0001c0054 a0003c0096 a0001c0017 a0001c0054 a0003c0096	a0001c0017t0002 a0001c0054t0002 a0003c0096t0003 a0001c0017t0002 a0001c0054t0002 a0003c0096t0003	a0001c0017t0002g0158 a0001c0054t0002g0169 a0003c0096t0003g0020 a0001c0017t0002g0158 a0001c0054t0002g0169 a0003c0096t0003g0020	3	290	0.0103	32	c.107 others(51): Show c.107-30784_107-30783insCACAGGCACTCTCCTGCACACACTCA CACTCA	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45491465	G G	GTAGAGGC others(25): Show GTAGAGGCCCTCGGTCAGAGACGCCCTCGGTCA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02055.hp2 NA18953.hp2 HG00609.hp2 HG02055.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0051 a0001c0002 a0001c0004 a0001c0051	a0001c0002t0003 a0001c0004t0001 a0001c0051t0001 a0001c0002t0003 a0001c0004t0001 a0001c0051t0001	a0001c0002t0003g0123 a0001c0004t0001g0008 a0001c0051t0001g0248 a0001c0002t0003g0123 a0001c0004t0001g0008 a0001c0051t0001g0248	3	110	0.0273	32	c.215 others(49): Show c.2157+151_2157+152insTAGAGGCCCTCGGTCAGAGACGCCCTCG GTCA	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	22/41			chr21	TogoVar
COL18A1_chr21_45400165_45518720	45491466	C C	CAGACGCC others(25): Show CAGACGCCCTCGGTCAGAGACGCCCTCGGTCAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00597.hp2 others(30): Show HG00099.hp2 HG00438.hp1 HG00597.hp2 HG00735.hp2 HG00738.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01361.hp2 HG01943.hp1 HG01993.hp2 HG02004.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02809.hp1 HG02886.hp1 HG03017.hp1 NA18612.hp2 NA18945.hp1 NA18945.hp2 NA18954.hp1 NA18961.hp2 NA18969.hp2 NA18990.hp2 NA19010.hp1 NA19064.hp2 NA19074.hp2	a0001 a0016 a0022 others(1): Show a0001 a0016 a0022 a0023	a0001c0001 a0001c0004 a0001c0005 others(8): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007 a0001c0025 a0001c0032 a0001c0036 a0001c0086 a0016c0040 a0022c0046 a0023c0047	a0001c0001t0001 a0001c0004t0001 a0001c0004t0003 others(11): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0003 a0001c0004t0008 a0001c0005t0002 a0001c0005t0006 a0001c0007t0002 a0001c0025t0002 a0001c0032t0002 a0001c0036t0004 a0001c0086t0001 a0016c0040t0001 a0022c0046t0004 a0023c0047t0004	a0001c0001t0001g0105 a0001c0001t0001g0269 a0001c0004t0001g0059 others(30): Show a0001c0001t0001g0105 a0001c0001t0001g0269 a0001c0004t0001g0059 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0079 a0001c0004t0001g0140 a0001c0004t0001g0161 a0001c0004t0001g0162 a0001c0004t0001g0218 a0001c0004t0001g0224 a0001c0004t0001g0253 a0001c0004t0001g0286 a0001c0004t0001g0288 a0001c0004t0003g0265 a0001c0004t0008g0125 a0001c0005t0002g0221 a0001c0005t0006g0222 a0001c0007t0002g0133 a0001c0007t0002g0165 a0001c0007t0002g0210 a0001c0007t0002g0223 a0001c0025t0002g0132 a0001c0025t0002g0147 a0001c0032t0002g0077 a0001c0032t0002g0129 a0001c0036t0004g0018 a0001c0036t0004g0019 a0001c0086t0001g0098 a0016c0040t0001g0095 a0022c0046t0004g0164 a0023c0047t0004g0163	33	50	0.6600	32	c.215 others(49): Show c.2157+175_2157+176insCTCGGTCAGAGACGCCCTCGGTCAGAGA CGCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	22/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45491466	C C	CAGAGGCC others(25): Show CAGAGGCCCTCGGTCAGAGACGCCCTCGGTCAG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG04115.hp1 HG03831.hp1 HG04115.hp1	a0002 a0027 a0002 a0027	a0002c0081 a0027c0083 a0002c0081 a0027c0083	a0002c0081t0002 a0027c0083t0002 a0002c0081t0002 a0027c0083t0002	a0002c0081t0002g0214 a0027c0083t0002g0154 a0002c0081t0002g0214 a0027c0083t0002g0154	2	19	0.1053	32	c.215 others(49): Show c.2157+155_2157+156insGGCCCTCGGTCAGAGACGCCCTCGGTCA GAGA	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	22/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45491470	C C	CGCCCTCG others(25): Show CGCCCTCGGTCAGAGACGCCCTCGGTCAGAGAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03195.hp2 HG02055.hp1 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0001 a0001c0007t0002 a0001c0004t0001 a0001c0007t0002	a0001c0004t0001g0196 a0001c0007t0002g0197 a0001c0004t0001g0196 a0001c0007t0002g0197	2	262	0.0076	32	c.215 others(49): Show c.2157+175_2157+176insCTCGGTCAGAGATGCCCTCGGTCAGAGA CGCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	22/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45500695	T T	TGTGTTGG others(25): Show TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03098.hp1 HG02257.hp1 HG03098.hp1	a0003 a0019 a0003 a0019	a0003c0097 a0019c0067 a0003c0097 a0019c0067	a0003c0097t0001 a0019c0067t0001 a0003c0097t0001 a0019c0067t0001	a0003c0097t0001g0037 a0019c0067t0001g0012 a0003c0097t0001g0037 a0019c0067t0001g0012	2	227	0.0088	32	c.268 others(51): Show c.2683+3038_2683+3039insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45500879	T T	TGTGTTGG others(25): Show TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0070 a0001c0070	a0001c0070t0003 a0001c0070t0003	a0001c0070t0003g0026 a0001c0070t0003g0026	1	276	0.0036	32	c.268 others(51): Show c.2684-3128_2684-3127insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45500959	T T	TGTGTTGG others(25): Show TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03225.hp1 HG01891.hp2 HG03225.hp1	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0002 a0003c0023t0002	a0003c0023t0002g0118 a0003c0023t0002g0131 a0003c0023t0002g0118 a0003c0023t0002g0131	2	288	0.0069	32	c.268 others(51): Show c.2684-3048_2684-3047insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL21A1_chr6_56051590_56252580	56097769	A A	ATATATAA others(25): Show ATATATAAATATATAAAAATAAATATATAAATC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0003g0037 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0003g0037	3	262	0.0115	32	c.181 others(51): Show c.1812+3702_1812+3703insGATTTATATATTTATTTTTATATATT TATATA	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098586	A A	AATATATA others(25): Show AATATATAAATATATATATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0126 a0001c0002t0002g0126	1	185	0.0054	32	c.181 others(51): Show c.1812+2854_1812+2885dupATTTATATATATTTATATATATATTT ATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL22A1_chr8_138583235_138919041	138643647	T T	TAGATAGA others(25): Show TAGATAGACAGACAGACAGACAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0007 a0001c0010t0007	a0001c0010t0007g0155 a0001c0010t0007g0155	1	48	0.0208	32	c.350 others(51): Show c.3501+2981_3501+2982insGTCTGTCTGTCTGTCTGTCTGTCTGT CTATCT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	47/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138643647	T T	TAGATAGA others(25): Show TAGATAGATAGACAGACAGACAGACAGACAGAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp1 HG02922.hp1 others(3): Show HG02451.hp1 HG02630.hp1 HG02922.hp1 HG03139.hp1 HG03516.hp1 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0018 a0001c0024 a0001c0027 others(2): Show a0001c0018 a0001c0024 a0001c0027 a0001c0056 a0004c0040	a0001c0018t0004 a0001c0024t0004 a0001c0024t0016 others(3): Show a0001c0018t0004 a0001c0024t0004 a0001c0024t0016 a0001c0027t0002 a0001c0056t0004 a0004c0040t0004	a0001c0018t0004g0085 a0001c0024t0004g0137 a0001c0024t0016g0158 others(3): Show a0001c0018t0004g0085 a0001c0024t0004g0137 a0001c0024t0016g0158 a0001c0027t0002g0021 a0001c0056t0004g0040 a0004c0040t0004g0035	6	53	0.1132	32	c.350 others(51): Show c.3501+2981_3501+2982insGTCTGTCTGTCTGTCTGTCTGTCTAT CTATCT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	47/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138676454	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01106.hp1 HG01981.hp2 others(8): Show HG01070.hp2 HG01106.hp1 HG01981.hp2 HG03017.hp1 HG03017.hp2 NA18906.hp2 NA18944.hp2 NA18985.hp2 NA19011.hp1 NA19011.hp2 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0028 others(4): Show a0001c0001 a0001c0002 a0001c0028 a0002c0007 a0003c0035 a0004c0032 a0006c0037	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0028t0003 a0002c0007t0001 a0003c0035t0006 a0004c0032t0001 a0006c0037t0008	a0001c0001t0001g0117 a0001c0001t0006g0108 a0001c0002t0001g0046 others(8): Show a0001c0001t0001g0117 a0001c0001t0006g0108 a0001c0002t0001g0046 a0001c0002t0001g0070 a0001c0002t0001g0075 a0001c0002t0001g0101 a0001c0028t0003g0005 a0002c0007t0001g0138 a0003c0035t0006g0076 a0004c0032t0001g0128 a0006c0037t0008g0079	11	96	0.1146	32	c.315 others(49): Show c.3150+103_3150+104insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	41/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138676454	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03710.hp2 HG03831.hp1 others(1): Show HG03688.hp1 HG03710.hp2 HG03831.hp1 NA20752.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0004 a0002c0009 others(1): Show a0001c0002 a0002c0004 a0002c0009 a0004c0019	a0001c0002t0001 a0002c0004t0001 a0002c0009t0001 others(1): Show a0001c0002t0001 a0002c0004t0001 a0002c0009t0001 a0004c0019t0001	a0001c0002t0001g0050 a0002c0004t0001g0123 a0002c0009t0001g0072 others(1): Show a0001c0002t0001g0050 a0002c0004t0001g0123 a0002c0009t0001g0072 a0004c0019t0001g0131	4	89	0.0449	32	c.315 others(49): Show c.3150+103_3150+104insCCTTCCTTTCTTTCTTTCTTTCTTTCTT TCTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	41/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138676454	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0016 a0016	a0016c0030 a0016c0030	a0016c0030t0004 a0016c0030t0004	a0016c0030t0004g0025 a0016c0030t0004g0025	1	86	0.0116	32	c.315 others(49): Show c.3150+103_3150+104insCCTTCCTTCCTTCCTTCCTTTCTTTCTT TCTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	41/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138805333	C C	CTGTGTGA others(25): Show CTGTGTGATGGTGTGGATGTGTGATGGTGTGGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG01106.hp2 others(59): Show HG00639.hp1 HG00642.hp2 HG01106.hp2 HG01261.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0011 a0015	a0001c0001 a0001c0002 a0001c0006 others(33): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0010 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0024 a0001c0026 a0001c0028 a0001c0044 a0001c0045 a0001c0056 a0001c0057 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0009 a0002c0022 a0002c0023 a0002c0025 a0002c0052 a0002c0060 a0003c0020 a0003c0031 a0003c0033 a0004c0019 a0004c0041 a0006c0037 a0011c0058 a0015c0055	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(46): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0001c0010t0001 a0001c0010t0007 a0001c0012t0001 a0001c0012t0002 a0001c0012t0005 a0001c0012t0010 a0001c0014t0011 a0001c0015t0002 a0001c0016t0001 a0001c0017t0005 a0001c0017t0007 a0001c0018t0004 a0001c0024t0016 a0001c0026t0001 a0001c0028t0001 a0001c0044t0002 a0001c0045t0001 a0001c0056t0004 a0001c0057t0009 a0002c0003t0001 a0002c0004t0002 a0002c0004t0004 a0002c0004t0008 a0002c0005t0002 a0002c0005t0009 a0002c0007t0008 a0002c0009t0001 a0002c0009t0002 a0002c0022t0002 a0002c0023t0001 a0002c0025t0004 a0002c0052t0002 a0002c0060t0004 a0003c0020t0007 a0003c0031t0004 a0003c0033t0002 a0004c0019t0001 a0004c0041t0002 a0006c0037t0008 a0011c0058t0002 a0015c0055t0005	a0001c0001t0001g0094 a0001c0001t0001g0119 a0001c0002t0002g0027 others(59): Show a0001c0001t0001g0094 a0001c0001t0001g0119 a0001c0002t0002g0027 a0001c0002t0002g0044 a0001c0002t0005g0147 a0001c0002t0007g0156 a0001c0006t0001g0053 a0001c0006t0001g0064 a0001c0006t0001g0112 a0001c0006t0002g0065 a0001c0008t0001g0042 a0001c0008t0002g0030 a0001c0008t0002g0091 a0001c0008t0002g0134 a0001c0010t0001g0029 a0001c0010t0001g0031 a0001c0010t0001g0109 a0001c0010t0007g0155 a0001c0012t0001g0038 a0001c0012t0002g0061 a0001c0012t0005g0143 a0001c0012t0010g0011 a0001c0014t0011g0089 a0001c0015t0002g0116 a0001c0016t0001g0087 a0001c0016t0001g0133 a0001c0017t0005g0148 a0001c0017t0005g0151 a0001c0017t0007g0149 a0001c0018t0004g0085 a0001c0024t0016g0158 a0001c0026t0001g0039 a0001c0026t0001g0063 a0001c0028t0001g0036 a0001c0044t0002g0077 a0001c0045t0001g0078 a0001c0056t0004g0040 a0001c0057t0009g0049 a0002c0003t0001g0024 a0002c0003t0001g0098 a0002c0004t0002g0097 a0002c0004t0004g0084 a0002c0004t0008g0022 a0002c0005t0002g0086 a0002c0005t0009g0136 a0002c0007t0008g0028 a0002c0009t0001g0072 a0002c0009t0001g0105 a0002c0009t0002g0095 a0002c0022t0002g0026 a0002c0023t0001g0037 a0002c0025t0004g0104 a0002c0052t0002g0060 a0002c0060t0004g0107 a0003c0020t0007g0152 a0003c0031t0004g0032 a0003c0033t0002g0016 a0004c0019t0001g0131 a0004c0041t0002g0043 a0006c0037t0008g0079 a0011c0058t0002g0092 a0015c0055t0005g0150	62	141	0.4397	32	c.149 others(51): Show c.1495-2400_1495-2399insTCCACACCATCACACATCCACACCAT CACACA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	10/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178258262	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0177 a0002c0002t0001g0177	1	138	0.0072	32	c.730 others(47): Show c.730-696_730-695insGTGTATATATATATATATATATATATATAT AT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	12/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178358248	G G	GTATGTGT others(25): Show GTATGTGTGTGTATGTATATGTGTGTATGTATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03453.hp2 HG02257.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0002c0003t0002 a0001c0001t0007 a0002c0003t0002	a0001c0001t0007g0118 a0002c0003t0002g0140 a0001c0001t0007g0118 a0002c0003t0002g0140	2	116	0.0172	32	c.362 others(51): Show c.362-51330_362-51329insTATACATACACACATATACATACACA CACATA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178364406	A A	AAGCAGGC others(25): Show AAGCAGGCCCACAGGAGGATGAGCTGAGGGTGG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0034 a0002c0003t0002g0034	1	167	0.0060	32	c.362 others(51): Show c.362-57488_362-57487insCCACCCTCAGCTCATCCTCCTGTGGG CCTGCT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178364406	A A	AAGCAGGC others(25): Show AAGCAGGCCCACAGGAGGGTGAGCTGAGGGTGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(65): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00621.hp1 HG01070.hp2 HG01071.hp2 HG01167.hp1 HG01261.hp2 HG01346.hp2 HG01943.hp1 HG02015.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02165.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02809.hp2 HG02886.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp2 HG03239.hp1 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18906.hp1 NA18943.hp1 NA18951.hp1 NA18953.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19063.hp2 NA19065.hp2 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009	a0001c0001 a0001c0005 a0002c0002 others(8): Show a0001c0001 a0001c0005 a0002c0002 a0002c0003 a0002c0018 a0003c0004 a0003c0007 a0004c0006 a0005c0008 a0008c0015 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0005t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0018t0009 a0003c0004t0002 a0003c0004t0003 a0003c0004t0005 a0003c0007t0001 a0004c0006t0003 a0004c0006t0004 a0005c0008t0002 a0008c0015t0002 a0009c0012t0002	a0001c0001t0001g0091 a0001c0001t0002g0055 a0001c0001t0002g0058 others(65): Show a0001c0001t0001g0091 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0083 a0001c0001t0002g0150 a0001c0001t0003g0119 a0001c0001t0003g0159 a0001c0001t0004g0011 a0001c0001t0004g0021 a0001c0001t0004g0037 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0004g0054 a0001c0001t0004g0089 a0001c0001t0004g0092 a0001c0001t0004g0164 a0001c0001t0004g0174 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0193 a0001c0001t0004g0201 a0001c0001t0004g0204 a0001c0001t0004g0218 a0001c0001t0005g0009 a0001c0001t0005g0113 a0001c0001t0005g0144 a0001c0001t0005g0222 a0001c0001t0006g0230 a0001c0005t0001g0042 a0002c0002t0001g0020 a0002c0002t0001g0033 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0096 a0002c0002t0001g0181 a0002c0002t0001g0186 a0002c0002t0001g0198 a0002c0002t0002g0149 a0002c0002t0010g0228 a0002c0003t0001g0036 a0002c0003t0002g0016 a0002c0003t0002g0140 a0002c0003t0002g0206 a0002c0003t0004g0077 a0002c0003t0004g0078 a0002c0003t0004g0221 a0002c0003t0005g0066 a0002c0018t0009g0233 a0003c0004t0002g0005 a0003c0004t0002g0163 a0003c0004t0003g0125 a0003c0004t0005g0132 a0003c0007t0001g0137 a0003c0007t0001g0154 a0004c0006t0003g0062 a0004c0006t0003g0130 a0004c0006t0003g0171 a0004c0006t0004g0135 a0004c0006t0004g0136 a0005c0008t0002g0003 a0005c0008t0002g0024 a0005c0008t0002g0053 a0005c0008t0002g0155 a0005c0008t0002g0187 a0008c0015t0002g0109 a0009c0012t0002g0162	68	234	0.2906	32	c.362 others(51): Show c.362-57519_362-57488dupCCACCCTCAGCTCACCCTCCTGTGGG CCTGCT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178364406	A A	AAGCAGGC others(25): Show AAGCAGGCCCACAGGAGTGTGAGCTGAGGGTGG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0138 a0002c0003t0002g0138	1	167	0.0060	32	c.362 others(51): Show c.362-57488_362-57487insCCACCCTCAGCTCACACTCCTGTGGG CCTGCT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178523149	T T	TATATATA others(25): Show TATATATATATACATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0220 a0003c0004t0003g0220	1	236	0.0042	32	c.361 others(51): Show c.361+37532_361+37533insGTGTATATATATATATATATGTATAT ATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178585531	T T	TGGGGTAA others(25): Show TGGGGTAATGCCCTACAGCCCTGGTTGATGCTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03453.hp1 HG02451.hp1 HG03453.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0139 a0004c0006t0003g0143 a0004c0006t0003g0139 a0004c0006t0003g0143	2	189	0.0106	32	c.294 others(49): Show c.294+4372_294+4373insCAGCATCAACCAGGGCTGTAGGGCATTA CCCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178585656	T T	TGGGGTAA others(25): Show TGGGGTAACACTCCACGTCCCTGGTTGATGCTG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0161 a0001c0001t0005g0161	1	236	0.0042	32	c.294 others(49): Show c.294+4247_294+4248insCAGCATCAACCAGGGACGTGGAGTGTTA CCCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	85799211	A A	AAAAAAAA others(25): Show AAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01891.hp1 HG01952.hp1 others(16): Show HG01192.hp2 HG01891.hp1 HG01952.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02165.hp1 HG02572.hp2 HG02809.hp1 HG02818.hp1 HG02922.hp2 HG03654.hp2 HG03710.hp2 NA18946.hp2 NA18955.hp1 NA18961.hp2 NA19012.hp1 NA19240.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0010 a0012 a0014 a0016 a0038	a0001c0001 a0002c0007 a0002c0016 others(11): Show a0001c0001 a0002c0007 a0002c0016 a0002c0027 a0003c0003 a0003c0011 a0004c0002 a0006c0062 a0006c0063 a0010c0009 a0012c0015 a0014c0020 a0016c0029 a0038c0043	a0001c0001t0001 a0001c0001t0002 a0002c0007t0002 others(14): Show a0001c0001t0001 a0001c0001t0002 a0002c0007t0002 a0002c0016t0005 a0002c0027t0008 a0003c0003t0002 a0003c0003t0008 a0003c0011t0002 a0004c0002t0001 a0004c0002t0007 a0006c0062t0001 a0006c0063t0002 a0010c0009t0001 a0012c0015t0002 a0014c0020t0002 a0016c0029t0001 a0038c0043t0004	a0001c0001t0001g0194 a0001c0001t0002g0162 a0002c0007t0002g0080 others(16): Show a0001c0001t0001g0194 a0001c0001t0002g0162 a0002c0007t0002g0080 a0002c0016t0005g0012 a0002c0027t0008g0064 a0003c0003t0002g0146 a0003c0003t0008g0150 a0003c0011t0002g0042 a0004c0002t0001g0151 a0004c0002t0007g0004 a0006c0062t0001g0094 a0006c0063t0002g0233 a0010c0009t0001g0031 a0010c0009t0001g0044 a0010c0009t0001g0045 a0012c0015t0002g0027 a0014c0020t0002g0173 a0016c0029t0001g0087 a0038c0043t0004g0104	19	55	0.3455	32	c.395 others(53): Show c.3952-12751_3952-12750insCTTTCTTTCTTTCTTTCTTTCTTT CTTTTTTT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	47/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85799211	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp2 HG01934.hp1 HG00741.hp2 HG01074.hp2 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0003 a0001c0001t0001 a0001c0005t0003	a0001c0001t0001g0038 a0001c0001t0001g0164 a0001c0005t0003g0060 a0001c0001t0001g0038 a0001c0001t0001g0164 a0001c0005t0003g0060	3	39	0.0769	32	c.395 others(53): Show c.3952-12782_3952-12751dupCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	47/59			chr1	TogoVar

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