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
COL25A1_chr4_108803725_109307658	109019378	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	130	0.0077	38	c.421 others(55): Show c.421-9004_421-9003insAATATATATATATATATATATATATATA TATATATATA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	5/37			chr4	TogoVar
COL4A1_chr13_110143963_110312157	110255766	A A	AAGGGGGA others(31): Show AAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20905.hp1 NA20805.hp2 NA20905.hp1	a0005 a0011 a0005 a0011	a0005c0034 a0011c0113 a0005c0034 a0011c0113	a0005c0034t0001 a0011c0113t0003 a0005c0034t0001 a0011c0113t0003	a0005c0034t0001g0163 a0011c0113t0003g0261 a0005c0034t0001g0163 a0011c0113t0003g0261	2	298	0.0067	38	c.85- others(55): Show c.85-13033_85-13032insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255826	A A	AAGGGGGA others(31): Show AAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02080.hp2 HG02630.hp1 others(1): Show HG01515.hp2 HG02080.hp2 HG02630.hp1 NA18941.hp1	a0001 a0003 a0001 a0003	a0001c0007 a0003c0008 a0003c0009 others(1): Show a0001c0007 a0003c0008 a0003c0009 a0003c0014	a0001c0007t0001 a0003c0008t0001 a0003c0009t0001 others(1): Show a0001c0007t0001 a0003c0008t0001 a0003c0009t0001 a0003c0014t0002	a0001c0007t0001g0036 a0003c0008t0001g0167 a0003c0009t0001g0203 others(1): Show a0001c0007t0001g0036 a0003c0008t0001g0167 a0003c0009t0001g0203 a0003c0014t0002g0330	4	297	0.0135	38	c.85- others(55): Show c.85-13130_85-13093dupCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227203362	C C	CATATATG others(31): Show CATATATGTGTGTATATATGTGTATACATATATGTGTGT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01192.hp2 others(37): Show HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01256.hp1 HG01358.hp1 HG01981.hp1 HG02004.hp1 HG02135.hp2 HG02273.hp2 HG02630.hp2 HG02683.hp1 HG03486.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG04184.hp1 HG06807.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18959.hp2 NA18960.hp2 NA18974.hp2 NA18984.hp2 NA18994.hp2 NA18999.hp1 NA19005.hp1 NA19007.hp1 NA19056.hp2 NA19058.hp1 NA19074.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA20752.hp2 NA20905.hp2	a0001 a0003 a0004 others(9): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0013 a0015 a0037	a0001c0001 a0003c0002 a0004c0003 others(10): Show a0001c0001 a0003c0002 a0004c0003 a0005c0005 a0006c0010 a0006c0034 a0007c0006 a0008c0009 a0009c0008 a0010c0012 a0013c0015 a0015c0024 a0037c0033	a0001c0001t0001 a0001c0001t0002 a0003c0002t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0003c0002t0004 a0004c0003t0004 a0005c0005t0001 a0005c0005t0002 a0006c0010t0003 a0006c0010t0006 a0006c0034t0006 a0007c0006t0005 a0008c0009t0001 a0009c0008t0001 a0009c0008t0022 a0010c0012t0001 a0013c0015t0002 a0015c0024t0002 a0037c0033t0001	a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0107 others(37): Show a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0002g0035 a0001c0001t0002g0093 a0001c0001t0002g0151 a0001c0001t0002g0185 a0001c0001t0002g0207 a0001c0001t0002g0304 a0003c0002t0004g0268 a0003c0002t0004g0277 a0004c0003t0004g0027 a0004c0003t0004g0028 a0004c0003t0004g0317 a0005c0005t0001g0032 a0005c0005t0001g0116 a0005c0005t0002g0119 a0005c0005t0002g0120 a0006c0010t0003g0316 a0006c0010t0006g0066 a0006c0034t0006g0070 a0007c0006t0005g0327 a0007c0006t0005g0328 a0008c0009t0001g0029 a0008c0009t0001g0211 a0008c0009t0001g0281 a0009c0008t0001g0088 a0009c0008t0001g0110 a0009c0008t0001g0238 a0009c0008t0001g0272 a0009c0008t0022g0322 a0010c0012t0001g0239 a0010c0012t0001g0247 a0010c0012t0001g0248 a0010c0012t0001g0261 a0013c0015t0002g0208 a0015c0024t0002g0232 a0015c0024t0002g0291 a0037c0033t0001g0109	40	227	0.1762	38	c.88- others(55): Show c.88-34596_88-34595insGTATATATGTGTATACATATATGTGTGT ATATATGTGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203408	C C	CATATATG others(31): Show CATATATGTGTGTATATATGTGTATACATATATGTGTGT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	142	0.0070	38	c.88- others(55): Show c.88-34550_88-34549insGTATATATGTGTATACATATATGTGTGT ATATATGTGT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203483	A A	ACATATAT others(31): Show ACATATATGTGTGTATATATGTGTATACATACATATATG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0030 a0030	a0030c0032 a0030c0032	a0030c0032t0012 a0030c0032t0012	a0030c0032t0012g0061 a0030c0032t0012g0061	1	129	0.0078	38	c.88- others(55): Show c.88-34485_88-34484insCATATATGTGTGTATATATGTGTATACA TACATATATG	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203483	A A	ACATATAT others(31): Show ACATATATGTGTGTATATATGTGTATATATACATATATG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02135.hp1 HG02683.hp1 others(11): Show HG01192.hp2 HG02135.hp1 HG02683.hp1 HG03041.hp2 HG03239.hp1 NA18945.hp1 NA18947.hp2 NA18953.hp1 NA18957.hp1 NA18963.hp2 NA19003.hp2 NA19056.hp2 NA19091.hp2 NA20905.hp2	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0006 a0013 a0015 a0022	a0001c0001 a0003c0002 a0004c0003 others(5): Show a0001c0001 a0003c0002 a0004c0003 a0005c0005 a0006c0010 a0013c0015 a0015c0024 a0022c0048	a0001c0001t0001 a0001c0001t0002 a0003c0002t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0003c0002t0003 a0004c0003t0003 a0005c0005t0002 a0006c0010t0003 a0013c0015t0002 a0015c0024t0002 a0022c0048t0001	a0001c0001t0001g0252 a0001c0001t0002g0035 a0001c0001t0002g0207 others(11): Show a0001c0001t0001g0252 a0001c0001t0002g0035 a0001c0001t0002g0207 a0003c0002t0003g0190 a0004c0003t0003g0282 a0004c0003t0003g0283 a0005c0005t0002g0120 a0006c0010t0003g0258 a0013c0015t0002g0074 a0013c0015t0002g0075 a0013c0015t0002g0208 a0015c0024t0002g0232 a0015c0024t0002g0291 a0022c0048t0001g0198	14	142	0.0986	38	c.88- others(55): Show c.88-34485_88-34484insCATATATGTGTGTATATATGTGTATATA TACATATATG	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227045810	A A	ACACATAT others(31): Show ACACATATATATGTATATATATTTAGATAGTATATATAG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18941.hp1 NA18944.hp1 others(4): Show NA18939.hp1 NA18941.hp1 NA18944.hp1 NA18965.hp1 NA19006.hp2 NA19066.hp2 NA19091.hp2	a0002 a0039 a0002 a0039	a0002c0002 a0039c0039 a0002c0002 a0039c0039	a0002c0002t0002 a0002c0002t0007 a0039c0039t0007 a0002c0002t0002 a0002c0002t0007 a0039c0039t0007	a0002c0002t0002g0077 a0002c0002t0002g0141 a0002c0002t0002g0187 others(4): Show a0002c0002t0002g0077 a0002c0002t0002g0141 a0002c0002t0002g0187 a0002c0002t0002g0190 a0002c0002t0007g0050 a0002c0002t0007g0186 a0039c0039t0007g0012	7	244	0.0287	38	c.328 others(57): Show c.3289+1664_3289+1665insCTATATATACTATCTAAATATATATA CATATATATGTG	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	35/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227089611	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG02257.hp2 HG02486.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0004 a0007c0006t0004	a0007c0006t0004g0172 a0007c0006t0004g0173 a0007c0006t0004g0172 a0007c0006t0004g0173	2	274	0.0073	38	c.145 others(55): Show c.1459+256_1459+257insCATATATATATATATATATATATATATA TATATATATA	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	21/47			chr2	TogoVar
COL4A6_chrX_108150614_108443422	108440201	G G	GGGGGGGG others(31): Show GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	232	0.0043	38	c.-20 others(49): Show c.-2006_-2005insGAGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCC	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding		1780		chrX	TogoVar
COL5A2_chr2_189026898_189184761	189094588	G G	GACACACA others(31): Show GACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01069.hp2 HG02922.hp1 others(6): Show HG00597.hp2 HG01069.hp2 HG02922.hp1 HG03139.hp1 HG03492.hp1 HG03942.hp2 NA18945.hp2 NA18979.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0001t0013 a0001c0001t0022 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0022 a0001c0019t0001	a0001c0001t0001g0041 a0001c0001t0001g0072 a0001c0001t0001g0097 others(6): Show a0001c0001t0001g0041 a0001c0001t0001g0072 a0001c0001t0001g0097 a0001c0001t0001g0121 a0001c0001t0001g0144 a0001c0001t0001g0189 a0001c0001t0013g0011 a0001c0001t0022g0084 a0001c0019t0001g0070	9	28	0.3214	38	c.457 others(55): Show c.457-2206_457-2169dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	6/53			chr2	TogoVar
COL6A1_chr21_45976770_46010048	45981616	C C	CCCTCTCC others(31): Show CCCTCTCCTCCCCGCCCCCTCCCTCCCCCTCCCCTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	126	0.0079	38	c.-23 others(47): Show c.-235_-234insCCTCTCCTCCCCGCCCCCTCCCTCCCCCTCCCCTCC CG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		153		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981627	T T	TCCCCTCC others(31): Show TCCCCTCCCCTCCACCCTCCCCTCCCGCCCCGCCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	121	0.0083	38	c.-22 others(47): Show c.-224_-223insCCCCTCCCCTCCACCCTCCCCTCCCGCCCCGCCCCC TC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		142		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45981680	T T	TCTCCTCC others(31): Show TCTCCTCCCGCCCCTCCCCTCCCCCTCCCGCCCCTCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0037 a0002c0002t0001g0037	1	54	0.0185	38	c.-17 others(47): Show c.-171_-170insCTCCTCCCGCCCCTCCCCTCCCCCTCCCGCCCCTCT CG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		89		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134317	G G	GGGGCTTC others(31): Show GGGGCTTCCATTTCCAAACAAGGTCACATCCAGAGGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0081 a0002c0003t0003g0081	1	370	0.0027	38	c.48 others(49): Show c.4826_*4827insGGGCTTCCATTTCCAAACAAGGTCACATCCAGAG GTCT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4517		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134317	G G	GGGGCTTC others(31): Show GGGGCTTCCATTTCCAAACAAGGTCACATCCAGAGGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0082 a0002c0003t0001g0082	1	362	0.0028	38	c.17 others(49): Show c.1765_*1766insGGGCTTCCATTTCCAAACAAGGTCACATCCAGAG GTCT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1470		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135657	C C	CCCAACAT others(31): Show CCCAACATTGATGTCTCCTCACAAATGTCCCCTCACCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03453.hp1 HG01891.hp1 HG03453.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0005 a0001c0026t0005	a0001c0026t0005g0232 a0001c0026t0005g0233 a0001c0026t0005g0232 a0001c0026t0005g0233	2	362	0.0055	38	c.31 others(49): Show c.3105_*3106insCCAACATTGATGTCTCCTCACAAATGTCCCCTCA CCAG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2810		chr21	TogoVar
COL6A6_chr3_130512177_130682042	130636805	C C	CCCTTCCT others(31): Show CCCTTCCTCCTCCCCTCCCCCTCCCCTTCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG00639.hp1 others(24): Show HG00558.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01192.hp2 HG01255.hp1 HG01943.hp2 HG01975.hp2 HG02015.hp2 HG02055.hp1 HG02083.hp2 HG02257.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp2 NA18977.hp1 NA18982.hp1 NA18988.hp1 NA19005.hp2 NA19070.hp2	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0006 a0009 a0014 a0028	a0002c0002 a0003c0022 a0004c0010 others(5): Show a0002c0002 a0003c0022 a0004c0010 a0006c0007 a0006c0063 a0009c0005 a0014c0011 a0028c0046	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(11): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0016 a0003c0022t0001 a0004c0010t0003 a0004c0010t0009 a0006c0007t0001 a0006c0007t0007 a0006c0063t0023 a0009c0005t0006 a0014c0011t0003 a0028c0046t0003	a0002c0002t0001g0013 a0002c0002t0002g0041 a0002c0002t0002g0068 others(24): Show a0002c0002t0001g0013 a0002c0002t0002g0041 a0002c0002t0002g0068 a0002c0002t0002g0075 a0002c0002t0002g0084 a0002c0002t0003g0004 a0002c0002t0003g0108 a0002c0002t0003g0116 a0002c0002t0003g0133 a0002c0002t0003g0161 a0002c0002t0003g0186 a0002c0002t0005g0042 a0002c0002t0005g0071 a0002c0002t0005g0076 a0002c0002t0016g0050 a0003c0022t0001g0010 a0004c0010t0003g0261 a0004c0010t0009g0251 a0004c0010t0009g0252 a0004c0010t0009g0253 a0006c0007t0001g0122 a0006c0007t0007g0092 a0006c0007t0007g0093 a0006c0063t0023g0168 a0009c0005t0006g0073 a0014c0011t0003g0179 a0028c0046t0003g0024	27	261	0.1034	38	c.509 others(57): Show c.5091+1047_5091+1048insTCCTCCTCCCCTCCCCCTCCCCTTCC TCCCCCCTTCCT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL8A1_chr3_99633594_99804217	99669146	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	198	0.0051	38	c.-12 others(59): Show c.-129+30483_-129+30484insTATATATATATATATATATATATA TATAGAGAGAGAGA	COL8A1	ENSG00000144810.16	transcript	ENST00000652472.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	129	0.0078	38	c.-11 others(49): Show c.-1118_-1117insAAAATATATATATATATATATATATATATATATA TATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0080 a0004c0004t0003g0080	1	129	0.0078	38	c.-11 others(49): Show c.-1118_-1117insAAAAAAAAAAAATATATATATATATATATATATA TATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(31): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03471.hp2 HG01891.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0020 a0002c0001t0001g0062 a0001c0002t0001g0020 a0002c0001t0001g0062	2	130	0.0154	38	c.-11 others(49): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAATATATATATATATATA TATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(31): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0106 a0001c0005t0001g0106	1	129	0.0078	38	c.-11 others(49): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAATATATATATATATA TATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAA others(31): Show AAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	241	0.0041	38	c.148 others(55): Show c.148+2201_148+2202insAAAAAATATATATATATATATATATATA TATATATATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC10_chr8_119062247_119113455	119072261	T T	TAGCACAC others(31): Show TAGCACACATTGAGTAGCTGAGCACACATTGAGTAGCTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG01109.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0297 a0001c0001t0001g0278 a0001c0001t0001g0297	2	379	0.0053	38	c.148 others(55): Show c.148+4841_148+4878dupTTGAGTAGCTGAGCACACATTGAGTAGC TGAGCACACA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC11_chr2_3590112_3649644	3635077	C C	CTCCCCTG others(31): Show CTCCCCTGCCTGTCCCCCCTCTCCCCTGCCTGTCCCCCA	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	116	0.0086	38	c.203 others(55): Show c.203-2439_203-2438insCTCTCCCCTGCCTGTCCCCCATCCCCTG CCTGTCCCCC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC12_chr18_311737_505701	312207	G G	GATAGATA others(31): Show GATAGATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 NA18975.hp1 HG03942.hp1 NA18975.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0002 a0002c0001 a0003c0002	a0002c0001t0009 a0003c0002t0202 a0002c0001t0009 a0003c0002t0202	a0002c0001t0009g0182 a0003c0002t0202g0185 a0002c0001t0009g0182 a0003c0002t0202g0185	2	179	0.0112	38	c.78 others(49): Show c.7837_*7838insATATATATATATATATATATATATATATATATAT CTAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4529		chr18	TogoVar
COLEC12_chr18_311737_505701	312207	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG03017.hp2 NA18948.hp2 others(2): Show HG02027.hp2 HG03017.hp2 NA18948.hp2 NA19003.hp1 NA19067.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0002 a0001c0003 a0003c0002	a0001c0003t0077 a0003c0002t0002 a0003c0002t0068 others(2): Show a0001c0003t0077 a0003c0002t0002 a0003c0002t0068 a0003c0002t0086 a0003c0002t0149	a0001c0003t0077g0096 a0003c0002t0002g0230 a0003c0002t0068g0031 others(2): Show a0001c0003t0077g0096 a0003c0002t0002g0230 a0003c0002t0068g0031 a0003c0002t0086g0060 a0003c0002t0149g0067	5	182	0.0275	38	c.78 others(49): Show c.7837_*7838insATATATATATATATATATATATATATATATATAT ATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4529		chr18	TogoVar
COLEC12_chr18_311737_505701	312207	G G	GATGGATA others(31): Show GATGGATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0092 a0002c0001t0092	a0002c0001t0092g0065 a0002c0001t0092g0065	1	178	0.0056	38	c.78 others(49): Show c.7837_*7838insATATATATATATATATATATATATATATATATAT CCAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4529		chr18	TogoVar
COMMD10_chr5_116080025_116298287	116212522	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19055.hp1 NA19005.hp1 NA19055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0180 a0001c0002t0001g0154 a0001c0002t0001g0180	2	200	0.0100	38	c.510 others(57): Show c.510+78345_510+78346insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD1_chr2_61900674_62141058	62095807	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01071.hp1 HG01071.hp2 others(25): Show HG00099.hp1 HG01071.hp1 HG01071.hp2 HG01109.hp2 HG01169.hp1 HG01243.hp2 HG01346.hp2 HG01517.hp1 HG01928.hp1 HG01943.hp1 HG02280.hp1 HG02572.hp1 HG02970.hp1 HG02970.hp2 HG03453.hp1 HG03579.hp2 HG04184.hp2 NA18906.hp2 NA18943.hp1 NA18945.hp2 NA18955.hp1 NA18973.hp2 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19065.hp1 NA19080.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 others(25): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0088 a0001c0001t0001g0108 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0171 a0001c0001t0001g0199 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0245 a0001c0001t0002g0224 a0001c0002t0001g0025 a0001c0003t0001g0270	28	132	0.2121	38	c.463 others(57): Show c.463-40010_463-40009insATATATATATATATATATATATATAT ATATATATATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD9_chr11_36267292_36294424	36270137	T T	TAGAGAGA others(31): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01993.hp2 NA18983.hp2 others(1): Show HG01109.hp1 HG01993.hp2 NA18983.hp2 NA19068.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0005 a0001c0001t0003 a0003c0003t0005	a0001c0001t0003g0002 a0001c0001t0003g0009 a0003c0003t0005g0067 a0001c0001t0003g0002 a0001c0001t0003g0009 a0003c0003t0005g0067	4	43	0.0930	38	c.44 others(49): Show c.4494_*4495insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding		2154		chr11	TogoVar
COPE_chr19_18894514_18924387	18902825	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	146	0.0068	38	c.735 others(53): Show c.735+442_735+443insTTCTTTTCTTTTCTTTTCTTTTCTTTCTTT CTTTCTTT	COPE	ENSG00000105669.14	transcript	ENST00000262812.9	protein_coding	7/9			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATAGA others(31): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0234 a0001c0002t0001g0234	1	70	0.0143	38	c.114 others(57): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697875	G G	GAGAGAGA others(31): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0261 a0001c0004t0001g0261	1	220	0.0045	38	c.114 others(57): Show c.1144-1822_1144-1821insGTCTCTCTCCCTCTCTCTCTCTCTCT CTCTCTCTCTCT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COX16_chr14_70320081_70364683	70354841	C C	CGTGTGTG others(31): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	43	0.0233	38	c.69+ others(53): Show c.69+4677_69+4678insACACACACGCACACACACACACACACACAC ACACACAC	COX16	ENSG00000133983.16	transcript	ENST00000389912.7	protein_coding	1/3			chr14	TogoVar
COX7A2L_chr2_42344338_42366217	42364250	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	176	0.0057	38	c.-30 others(49): Show c.-3090_-3089insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	COX7A2L	ENSG00000115944.15	transcript	ENST00000234301.3	protein_coding		3034		chr2	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01496.hp1 HG03486.hp1 others(1): Show HG01074.hp2 HG01496.hp1 HG03486.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0020 a0001c0001t0001g0263 a0001c0001t0001g0270 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0263 a0001c0001t0001g0270 a0001c0004t0002g0166	4	152	0.0263	38	c.308 others(55): Show c.308-3203_308-3202insAAAAAAAAAAAAAAAAAAAAAAGAAAGA AAGAAAAAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPLX1_chr4_779957_831129	826501	C C	CGGGGGCG others(31): Show CGGGGGCGGGGGCGGGGGTGGACCCGGGGGCGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0291 a0001c0001t0008g0291	1	410	0.0024	38	c.-53 others(47): Show c.-536_-535insCGCCCCCCGCCCCCGGGTCCACCCCCGCCCCCGCCC CC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		373		chr4	TogoVar
CPLX2_chr5_175866578_175889021	175871410	G G	GGAGAGAG others(31): Show GGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA19085.hp2 NA18980.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0060 a0001c0001t0010g0002 a0001c0001t0002g0060 a0001c0001t0010g0002	2	300	0.0067	38	c.-38 others(47): Show c.-384_-383insGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGA GA	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		167		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871415	G G	GAGAGAGA others(31): Show GAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0007 a0001c0001t0017g0007	2	366	0.0055	38	c.-37 others(47): Show c.-379_-378insAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAG AA	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		162		chr5	TogoVar
CPM_chr12_68846175_68938171	68847196	T T	TCATATAT others(31): Show TCATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0020 a0002c0005t0020	a0002c0005t0020g0006 a0002c0005t0020g0006	1	166	0.0060	38	c.92 others(49): Show c.9240_*9241insTATATATATATATATATATATATATATATATATA TATG	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3978		chr12	TogoVar
CPM_chr12_68846175_68938171	68847196	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01123.hp2 HG02145.hp2 others(1): Show HG00741.hp2 HG01123.hp2 HG02145.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0003 others(1): Show a0001c0002 a0001c0004 a0002c0003 a0002c0009	a0001c0002t0001 a0001c0004t0005 a0002c0003t0003 others(1): Show a0001c0002t0001 a0001c0004t0005 a0002c0003t0003 a0002c0009t0002	a0001c0002t0001g0185 a0001c0004t0005g0067 a0002c0003t0003g0015 others(1): Show a0001c0002t0001g0185 a0001c0004t0005g0067 a0002c0003t0003g0015 a0002c0009t0002g0029	4	169	0.0237	38	c.92 others(49): Show c.9240_*9241insTATATATATATATATATATATATATATATATATA TATA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3978		chr12	TogoVar
CPNE3_chr8_86509435_86566498	86524869	T T	TTTCTTTC others(31): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0305 a0001c0002t0002g0305	1	338	0.0030	38	c.-10 others(55): Show c.-10-3665_-10-3664insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTCTT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE3_chr8_86509435_86566498	86524870	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0330 a0001c0002t0002g0330	1	338	0.0030	38	c.-10 others(55): Show c.-10-3665_-10-3664insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE7_chr16_89570758_89602246	89587311	C C	CGGAGGAG others(31): Show CGGAGGAGGAACCAGGCCAGATACCTGGAGTCCCCCCCG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02109.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0002 a0001c0001t0001 a0001c0008t0002	a0001c0001t0001g0171 a0001c0008t0002g0016 a0001c0001t0001g0171 a0001c0008t0002g0016	2	345	0.0058	38	c.927 others(53): Show c.927+209_927+210insGGAGGAGGAACCAGGCCAGATACCTGGAGT CCCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587716	G G	GCACCCGC others(31): Show GCACCCGCGTGTCACCCACAGAAACACGGCCCCCCGTGT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0316 a0002c0004t0002g0316	1	259	0.0039	38	c.927 others(53): Show c.927+619_927+620insGCGTGTCACCCACAGAAACACGGCCCCCCG TGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587744	G G	GCCCCCGT others(31): Show GCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0226 a0003c0006t0003g0226	1	216	0.0046	38	c.927 others(53): Show c.927+672_927+673insTACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587785	C C	CCGTGTCA others(31): Show CCGTGTCAGCCACAGATACACGGCCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0137 a0001c0002t0004g0137	1	268	0.0037	38	c.927 others(53): Show c.927+690_927+691insGCCACAGATACACGGCCCCCCGTGTCACCC GCGTGTCA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587785	C C	CCGTGTTA others(31): Show CCGTGTTACCCACAGATACACGGCCCCCCGTGTTACCCG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0003 a0002c0017t0003	a0002c0017t0003g0142 a0002c0017t0003g0142	1	268	0.0037	38	c.927 others(53): Show c.927+688_927+689insTACCCACAGATACACGGCCCCCCGTGTTAC CCGCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar

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