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
CPED1_chr7_120983711_121302442	121093397	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA20129.hp2 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0095 a0001c0001t0001g0096	2	140	0.0143	20	c.617 others(37): Show c.617-4290_617-4271dupCACACACACACACACACACA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121129286	T T	TGTATATA others(13): Show TGTATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp2 HG03225.hp2 others(1): Show HG02723.hp1 HG02970.hp2 HG03225.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0007 a0001c0003t0003 a0001c0003t0007	a0001c0003t0003g0011 a0001c0003t0003g0025 a0001c0003t0007g0012 others(1): Show a0001c0003t0003g0011 a0001c0003t0003g0025 a0001c0003t0007g0012 a0001c0003t0007g0013	4	140	0.0286	20	c.140 others(37): Show c.1407+817_1407+818insCACGTATATATATATATATA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121172661	C C	CATAGATA others(13): Show CATAGATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp2 HG01070.hp2 others(4): Show HG00621.hp1 HG00642.hp2 HG01070.hp2 HG01071.hp2 HG02523.hp2 NA18941.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0009 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0003t0009 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004	a0001c0003t0009g0117 a0002c0002t0001g0105 a0002c0002t0002g0065 others(4): Show a0001c0003t0009g0117 a0002c0002t0001g0105 a0002c0002t0002g0065 a0002c0002t0002g0097 a0002c0002t0004g0116 a0002c0002t0004g0133 a0002c0002t0004g0134	7	140	0.0500	20	c.205 others(41): Show c.2055+30543_2055+30562dupAGATAGATAGATAGATAGAT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121189760	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA20129.hp1 HG02572.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0002 a0003c0006t0001 a0001c0001t0002 a0003c0006t0001	a0001c0001t0002g0088 a0003c0006t0001g0115 a0001c0001t0002g0088 a0003c0006t0001g0115	2	140	0.0143	20	c.205 others(41): Show c.2056-46935_2056-46916dupTATATATATATATATATATA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121189760	T T	TTTTATAT others(13): Show TTTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0108 a0001c0007t0001g0108	1	140	0.0071	20	c.205 others(41): Show c.2056-46953_2056-46952insTTATATATATATATATATAT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121295140	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02922.hp2 HG02723.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0013 a0001c0001t0003 a0001c0003t0013	a0001c0001t0003g0010 a0001c0003t0013g0009 a0001c0001t0003g0010 a0001c0003t0013g0009	2	140	0.0143	20	c.286 others(37): Show c.2869-284_2869-265dupCACACACACACACACACACA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPHXL_chr16_75709131_75731490	75725753	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	388	0.0026	20	c.25+ others(33): Show c.25+645_25+664dupAAAAAAAAAAAAAAAAAAAA	CPHXL	ENSG00000283755.2	transcript	ENST00000640559.2	protein_coding	1/2			chr16	TogoVar
CPLANE1_chr5_37101235_37254376	37154459	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03516.hp2 HG02486.hp2 HG03516.hp2	a0009 a0009	a0009c0012 a0009c0046 a0009c0012 a0009c0046	a0009c0012t0005 a0009c0046t0005 a0009c0012t0005 a0009c0046t0005	a0009c0012t0005g0263 a0009c0046t0005g0265 a0009c0012t0005g0263 a0009c0046t0005g0265	2	268	0.0075	20	c.812 others(37): Show c.8120-486_8120-467dupAAAAAAAAAAAAAAAAAAAA	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	41/52			chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871411	G G	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGAGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02683.hp2 NA18942.hp1 HG02004.hp2 HG02683.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0028 a0001c0001t0002g0002 a0001c0001t0002g0028	3	378	0.0079	20	c.-38 others(29): Show c.-383_-382insAGAGAGAGAGAGAGAGAGAC	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		166		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871415	G G	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGAGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0051 a0001c0001t0008g0051	1	378	0.0027	20	c.-37 others(29): Show c.-379_-378insAGAGAGAGAGAGAGAGAGAC	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		162		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871433	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02572.hp2 HG01884.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0020 a0001c0001t0016 a0001c0001t0020	a0001c0001t0016g0008 a0001c0001t0020g0008 a0001c0001t0016g0008 a0001c0001t0020g0008	2	378	0.0053	20	c.-36 others(29): Show c.-361_-360insAGAGAGAGAGAGAGAGAAAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		144		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871433	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 NA20129.hp1 HG02015.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0071 a0001c0001t0003 a0001c0001t0071	a0001c0001t0003g0036 a0001c0001t0071g0003 a0001c0001t0003g0036 a0001c0001t0071g0003	2	378	0.0053	20	c.-36 others(29): Show c.-361_-360insAGAGAGAGAGAGAGAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		144		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871456	A A	AGGGAGAG others(13): Show AGGGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02970.hp1 HG02976.hp2 others(5): Show HG02615.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0031 a0001c0001t0010 a0001c0001t0031	a0001c0001t0010g0009 a0001c0001t0010g0030 a0001c0001t0010g0077 others(1): Show a0001c0001t0010g0009 a0001c0001t0010g0030 a0001c0001t0010g0077 a0001c0001t0031g0009	8	378	0.0212	20	c.-33 others(29): Show c.-338_-337insGGGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		121		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871464	A A	AGAAAGAG others(13): Show AGAAAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02818.hp2 NA18967.hp2 others(2): Show HG01891.hp2 HG02818.hp2 NA18967.hp2 NA18994.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011	a0001c0001t0004g0004 a0001c0001t0007g0003 a0001c0001t0011g0004 a0001c0001t0004g0004 a0001c0001t0007g0003 a0001c0001t0011g0004	5	378	0.0132	20	c.-33 others(29): Show c.-330_-329insGAAAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		113		chr5	TogoVar
CPM_chr12_68846175_68938171	68847452	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0019 a0002c0008t0019	a0002c0008t0019g0325 a0002c0008t0019g0325	1	340	0.0029	20	c.89 others(31): Show c.8984_*8985insAAAAAAAAAAAAAAAAAAAA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3722		chr12	TogoVar
CPNE3_chr8_86509435_86566498	86527946	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp2 HG02976.hp2 HG01884.hp1 HG02647.hp2 HG02976.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0013 a0003c0004 a0004c0013	a0003c0004t0004 a0003c0004t0012 a0004c0013t0005 a0003c0004t0004 a0003c0004t0012 a0004c0013t0005	a0003c0004t0004g0156 a0003c0004t0012g0283 a0004c0013t0005g0164 a0003c0004t0004g0156 a0003c0004t0012g0283 a0004c0013t0005g0164	3	340	0.0088	20	c.-10 others(35): Show c.-10-584_-10-565dupTTTTTTTTTTTTTTTTTTTT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE3_chr8_86509435_86566498	86552962	G G	GCCCCCCC others(13): Show GCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0049 a0001c0010t0001g0049	1	340	0.0029	20	c.112 others(39): Show c.1120+1744_1120+1745insCCCCCCCCCCCCCCCCCCCC	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE4_chr3_131528569_132040014	131708957	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	94	0.0106	20	c.361 others(37): Show c.361-8997_361-8978dupATATATATATATATATATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	3/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131708995	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0064 a0001c0001t0008g0064	1	94	0.0106	20	c.361 others(37): Show c.361-9016_361-9015insGTATATATATATATATATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	3/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131737115	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03098.hp1 NA18906.hp1 others(2): Show HG01081.hp2 HG03098.hp1 NA18906.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0040 a0001c0001t0001g0058 a0001c0001t0001g0060 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0002g0074 a0001c0002t0001g0020	5	94	0.0532	20	c.181 others(39): Show c.181-13510_181-13491dupAAAAAAAAAAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131743962	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp2 HG02559.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0002g0070 a0001c0001t0001g0016 a0001c0001t0002g0070	2	94	0.0213	20	c.181 others(39): Show c.181-20357_181-20338dupTTTTTTTTTTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131792925	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTATATCTATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0025 a0001c0002t0012g0025	1	94	0.0106	20	c.181 others(39): Show c.181-69301_181-69300insTATAGATATACACACACACA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131792925	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTATCTATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0018 a0001c0003t0001g0018	1	94	0.0106	20	c.181 others(39): Show c.181-69301_181-69300insTATAGATACACACACACACA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131955410	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	94	0.0106	20	c.-1- others(37): Show c.-1-49986_-1-49967dupAAAAAAAAAAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131993472	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA20129.hp1 NA18906.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0072 a0001c0001t0002g0074	2	94	0.0213	20	c.-2+ others(37): Show c.-2+41094_-2+41095insTTTTTTTTTTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	132030348	C C	CTTCCAGT others(13): Show CTTCCAGTTCTGAGAGTCATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0009 a0001c0004t0001g0009	1	94	0.0106	20	c.-2+ others(35): Show c.-2+4199_-2+4218dupTATGACTCTCAGAACTGGAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE5_chr6_36735775_36844444	36768225	C C	CTTTTTTT others(13): Show CTTTTTTTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00735.hp2 others(18): Show HG00423.hp1 HG00609.hp1 HG00735.hp2 HG01070.hp1 HG01257.hp1 HG01358.hp1 HG01952.hp1 HG02027.hp1 HG02027.hp2 HG02148.hp2 HG06807.hp1 NA18940.hp2 NA18943.hp1 NA18954.hp2 NA18965.hp2 NA18972.hp1 NA18984.hp1 NA19081.hp2 NA19084.hp2 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0002c0005t0004	a0001c0001t0001g0050 a0001c0001t0001g0079 a0001c0001t0001g0105 others(18): Show a0001c0001t0001g0050 a0001c0001t0001g0079 a0001c0001t0001g0105 a0001c0001t0001g0354 a0001c0001t0001g0363 a0001c0001t0004g0168 a0001c0001t0004g0172 a0001c0001t0004g0189 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0229 a0001c0001t0004g0232 a0001c0001t0004g0307 a0001c0001t0005g0033 a0001c0001t0005g0260 a0001c0001t0005g0280 a0001c0001t0005g0286 a0001c0001t0005g0288 a0001c0001t0005g0314 a0002c0005t0004g0304 a0002c0005t0004g0306	21	380	0.0553	20	c.738 others(37): Show c.738-2850_738-2849insAAAAAAAAAAAAGAAAAAAA	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	10/20			chr6	TogoVar
CPNE7_chr16_89570758_89602246	89570780	A A	AGGCACGG others(13): Show AGGCACGGGAGGAGGTGAGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	348	0.0029	20	c.-51 others(31): Show c.-5118_-5117insGGCACGGGAGGAGGTGAGCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		4977		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89570906	C C	CACGGGAG others(13): Show CACGGGAGGAGGTGAGCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	348	0.0029	20	c.-49 others(31): Show c.-4992_-4991insACGGGAGGAGGTGAGCGGGG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		4851		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89571008	C C	CACGGGAG others(13): Show CACGGGAGGAGGTGAGCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0152 a0002c0003t0003g0152	1	348	0.0029	20	c.-48 others(31): Show c.-4890_-4889insACGGGAGGAGGTGAGCGGGG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		4749		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89571110	G G	GACGGGAG others(13): Show GACGGGAGGAGGTGAGCGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0234 a0001c0002t0007g0234	1	348	0.0029	20	c.-47 others(31): Show c.-4788_-4787insACGGGAGGAGGTGAGCGGGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		4647		chr16	TogoVar
CPNE8_chr12_38647203_38910591	38704826	G G	GTATATAT others(13): Show GTATATATATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp1 HG01123.hp1 others(9): Show HG00733.hp2 HG01074.hp1 HG01123.hp1 HG01243.hp1 HG01891.hp2 HG02293.hp2 HG03492.hp2 NA18970.hp2 NA19002.hp2 NA19068.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0028	a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0121 others(9): Show a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0274 a0001c0002t0002g0070 a0001c0002t0008g0015 a0001c0002t0008g0039 a0001c0002t0028g0285	12	342	0.0351	20	c.915 others(37): Show c.915-1906_915-1905insTATATATACACATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38717427	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01516.hp1 HG02071.hp1 others(2): Show HG00544.hp2 HG01516.hp1 HG02071.hp1 NA18947.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0130 others(2): Show a0001c0001t0001g0086 a0001c0001t0001g0095 a0001c0001t0001g0130 a0001c0001t0001g0281 a0001c0001t0004g0260	5	342	0.0146	20	c.914 others(37): Show c.914+6344_914+6345insTATATATATATATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38717429	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp2 HG02040.hp1 others(4): Show HG01081.hp1 HG01884.hp2 HG02040.hp1 HG02145.hp1 HG02622.hp2 HG03704.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0021 a0001c0001t0003g0301 a0001c0001t0003g0304 others(4): Show a0001c0001t0001g0021 a0001c0001t0003g0301 a0001c0001t0003g0304 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0002t0002g0013 a0001c0002t0002g0017	7	342	0.0205	20	c.914 others(37): Show c.914+6323_914+6342dupTATATATATATATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38760435	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA20129.hp1 NA20752.hp2 HG03453.hp1 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0002t0002g0045 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0002t0002g0045	3	342	0.0088	20	c.722 others(35): Show c.722+411_722+412insTATATATATATATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38760451	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18995.hp1 NA19002.hp2 NA18982.hp2 NA18995.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0149	3	342	0.0088	20	c.722 others(35): Show c.722+395_722+396insCATATATATATATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38795867	G G	GGATAGAT others(13): Show GGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00544.hp1 others(24): Show HG00280.hp2 HG00408.hp2 HG00544.hp1 HG01256.hp2 HG01258.hp1 HG01433.hp2 HG01496.hp2 HG02015.hp1 HG02040.hp2 HG02148.hp2 HG02486.hp1 HG02486.hp2 HG02683.hp1 HG02698.hp2 HG03195.hp1 HG03239.hp2 HG03704.hp2 HG04204.hp1 NA18951.hp1 NA18964.hp1 NA18993.hp1 NA19005.hp1 NA19056.hp2 NA19065.hp2 NA19086.hp2 NA19091.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0002t0002 a0001c0002t0004 a0001c0003t0011	a0001c0001t0001g0026 a0001c0001t0001g0104 a0001c0001t0001g0105 others(24): Show a0001c0001t0001g0026 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0185 a0001c0001t0001g0280 a0001c0001t0002g0251 a0001c0001t0003g0054 a0001c0001t0003g0136 a0001c0001t0003g0174 a0001c0001t0003g0188 a0001c0001t0003g0200 a0001c0001t0004g0030 a0001c0001t0004g0268 a0001c0001t0004g0291 a0001c0001t0007g0090 a0001c0001t0007g0138 a0001c0001t0007g0139 a0001c0001t0007g0140 a0001c0001t0007g0339 a0001c0001t0009g0154 a0001c0002t0002g0014 a0001c0002t0002g0034 a0001c0002t0002g0067 a0001c0002t0002g0069 a0001c0002t0002g0256 a0001c0002t0004g0066 a0001c0003t0011g0003	27	342	0.0790	20	c.408 others(39): Show c.408-19586_408-19567dupTATCTATCTATCTATCTATC	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	6/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902232	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0153 a0001c0001t0009g0153	1	342	0.0029	20	c.98+ others(35): Show c.98+3185_98+3204dupTTTCTTTCTTTCTTTCTTTC	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902393	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02056.hp1 HG02922.hp1 others(3): Show HG01074.hp1 HG02056.hp1 HG02922.hp1 NA18961.hp1 NA18969.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 others(3): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0004g0113 a0001c0001t0005g0320	6	342	0.0175	20	c.98+ others(35): Show c.98+3024_98+3043dupTTCTTTCTTTCTTTCTTTCT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902417	A A	AAGAAAGA others(13): Show AAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01515.hp2 HG02074.hp1 others(1): Show HG00408.hp1 HG01515.hp2 HG02074.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0287 others(1): Show a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0287 a0001c0001t0018g0286	4	342	0.0117	20	c.98+ others(35): Show c.98+3019_98+3020insCTCTTTCTTTCTTTCTTTCT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE9_chr3_9698833_9734908	9725698	G G	GTATATAT others(13): Show GTATATATGTATATATATGTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01261.hp2 HG01993.hp1 others(1): Show HG00738.hp2 HG01261.hp2 HG01993.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0307 a0001c0001t0001g0353 others(1): Show a0001c0001t0001g0233 a0001c0001t0001g0307 a0001c0001t0001g0353 a0001c0001t0001g0354	4	440	0.0091	20	c.124 others(37): Show c.1242-242_1242-241insATATATATGTATATATATGT	CPNE9	ENSG00000144550.14	transcript	ENST00000383832.8	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPO_chr2_206934518_206974474	206935766	T T	TATCCATC others(13): Show TATCCATCCATCCGTCCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03491.hp2 HG03492.hp1 HG03017.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0006 a0001c0004t0001g0006	3	422	0.0071	20	c.-38 others(31): Show c.-3834_-3833insATCCATCCATCCGTCCACCC	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding		3751		chr2	TogoVar
CPO_chr2_206934518_206974474	206935784	C C	CCCATCCA others(13): Show CCCATCCATCCATCCATCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00609.hp2 others(18): Show HG00408.hp1 HG00544.hp1 HG00609.hp2 HG01109.hp2 HG02257.hp1 HG02280.hp2 HG02300.hp1 HG03098.hp2 HG03486.hp1 HG03540.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 NA18522.hp2 NA18612.hp2 NA18942.hp2 NA18964.hp2 NA18965.hp1 NA19090.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0010 a0011	a0001c0001 a0001c0004 a0002c0008 others(3): Show a0001c0001 a0001c0004 a0002c0008 a0003c0005 a0010c0019 a0011c0020	a0001c0001t0001 a0001c0004t0001 a0002c0008t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0002c0008t0001 a0003c0005t0001 a0010c0019t0001 a0011c0020t0001	a0001c0001t0001g0100 a0001c0001t0001g0115 a0001c0001t0001g0124 others(17): Show a0001c0001t0001g0100 a0001c0001t0001g0115 a0001c0001t0001g0124 a0001c0001t0001g0138 a0001c0001t0001g0170 a0001c0004t0001g0019 a0001c0004t0001g0107 a0001c0004t0001g0110 a0001c0004t0001g0111 a0001c0004t0001g0112 a0001c0004t0001g0116 a0001c0004t0001g0130 a0001c0004t0001g0135 a0001c0004t0001g0136 a0001c0004t0001g0137 a0002c0008t0001g0098 a0002c0008t0001g0108 a0003c0005t0001g0109 a0010c0019t0001g0131 a0011c0020t0001g0132	21	422	0.0498	20	c.-38 others(31): Show c.-3816_-3815insCCATCCATCCATCCATCCAT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding		3733		chr2	TogoVar
CPPED1_chr16_12654799_12808887	12740025	G G	GAAAGAAA others(13): Show GAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0057 a0002c0002t0003g0057	1	290	0.0035	20	c.290 others(39): Show c.290-34996_290-34977dupTCTTTTCTTTTCTTTTCTTT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPPED1_chr16_12654799_12808887	12766242	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0064 a0003c0003t0064	a0003c0003t0064g0141 a0003c0003t0064g0141	1	290	0.0035	20	c.289 others(39): Show c.289+14942_289+14943insATATATATATATATATATAT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPQ_chr8_96640242_97148501	96730866	C C	CATACATA others(13): Show CATACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01081.hp1 HG01255.hp1 others(9): Show HG00733.hp1 HG01081.hp1 HG01255.hp1 HG01255.hp2 HG02040.hp2 HG02273.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG03195.hp1 NA18990.hp2 NA19066.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0008c0011t0002 a0001c0001t0001 a0001c0001t0002 a0008c0011t0002	a0001c0001t0001g0034 a0001c0001t0001g0046 a0001c0001t0001g0063 others(9): Show a0001c0001t0001g0034 a0001c0001t0001g0046 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0117 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0067 a0008c0011t0002g0037	12	126	0.0952	20	c.-34 others(39): Show c.-34-53995_-34-53994insCATATATATATATATATATA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96737355	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02004.hp1 HG02970.hp2 others(1): Show HG01978.hp1 HG02004.hp1 HG02970.hp2 HG03195.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0011 a0001c0001 a0001c0002 a0008c0011	a0001c0001t0002 a0001c0002t0001 a0008c0011t0002 a0001c0001t0002 a0001c0002t0001 a0008c0011t0002	a0001c0001t0002g0012 a0001c0002t0001g0055 a0001c0002t0001g0084 others(1): Show a0001c0001t0002g0012 a0001c0002t0001g0055 a0001c0002t0001g0084 a0008c0011t0002g0037	4	126	0.0318	20	c.-34 others(39): Show c.-34-47495_-34-47494insATATATATATATATATATAT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96854530	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18949.hp1 NA18949.hp2 others(1): Show HG02630.hp1 NA18949.hp1 NA18949.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0078 a0001c0001t0001g0109 a0001c0001t0002g0024 others(1): Show a0001c0001t0001g0078 a0001c0001t0001g0109 a0001c0001t0002g0024 a0001c0002t0001g0119	4	126	0.0318	20	c.641 others(39): Show c.641+19360_641+19379dupAAAAAAAAAAAAAAAAAAAA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96854557	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0018	1	126	0.0079	20	c.641 others(39): Show c.641+19379_641+19380insAAAAAAAAAAAAAAACACAA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96908747	G G	GCGCGCGC others(13): Show GCGCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02723.hp2 HG02055.hp1 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0122 a0001c0002t0001g0006 a0001c0002t0001g0122	2	126	0.0159	20	c.849 others(39): Show c.849+28743_849+28744insGCGCGCACACACACACACAC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar

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