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
CPNE3_chr8_86509435_86566498	86527946	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0166 a0003c0004t0004g0166	1	110	0.0091	24	c.-10 others(39): Show c.-10-588_-10-565dupTTTTTTTTTTTTTTTTTTTTTTTT	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(17): Show GCCCCCCCCCCCCCCCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	185	0.0054	24	c.112 others(43): Show c.1120+1744_1120+1745insCCCCACCCCCCCCCCCCCCCCCCC	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE4_chr3_131528569_132040014	131698233	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	46	0.0217	24	c.433 others(41): Show c.433-1618_433-1617insTTTTTTTTTTTTTTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	4/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131792623	A A	ATATATAT others(17): Show ATATATATACACACGTGTATATATG	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18906.hp2 HG03195.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0015 a0001c0001t0001 a0001c0005t0015	a0001c0001t0001g0011 a0001c0005t0015g0091 a0001c0001t0001g0011 a0001c0005t0015g0091	2	75	0.0267	24	c.181 others(43): Show c.181-69022_181-68999dupCATATATACACGTGTGTATATATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131942463	T T	TGTGTGTG others(17): Show TGTGTGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0009 a0001c0002t0012g0009	1	31	0.0323	24	c.-1- others(41): Show c.-1-37020_-1-37019insTCTCTCTCTCTCTCTCTCACACAC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE6_chr14_24066562_24083087	24082438	T T	TCCCCCCC others(17): Show TCCCCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	438	0.0023	24	c.45 others(35): Show c.4588_*4589insCCCCCCCCCCCCCCCCCCCCCCCC	CPNE6	ENSG00000100884.10	transcript	ENST00000689861.1	protein_coding		4352		chr14	TogoVar
CPNE7_chr16_89570758_89602246	89587785	C C	CCCCGTGT others(17): Show CCCCGTGTCACCCGCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0195 a0001c0002t0011g0195	1	268	0.0037	24	c.927 others(39): Show c.927+684_927+685insCCGTGTCACCCGCGTGTCACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597981	C C	CATCCGTC others(17): Show CATCCGTCCACCCATCTGTCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	340	0.0029	24	c.13 others(35): Show c.1360_*1361insATCCGTCCACCCATCTGTCCACCT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		736		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89598266	A A	ATCCGTCC others(17): Show ATCCGTCCACCCATCCGCCCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	345	0.0029	24	c.16 others(35): Show c.1645_*1646insTCCGTCCACCCATCCGCCCACCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		1021		chr16	TogoVar
CPNE8_chr12_38647203_38910591	38704826	G G	GTATATAT others(17): Show GTATATATATGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01243.hp2 HG01361.hp2 others(9): Show HG00438.hp1 HG01243.hp2 HG01361.hp2 HG01884.hp1 HG03579.hp1 NA18943.hp1 NA18948.hp2 NA18965.hp1 NA18981.hp2 NA19054.hp2 NA19057.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0019	a0001c0001t0001g0154 a0001c0001t0001g0167 a0001c0002t0002g0046 others(9): Show a0001c0001t0001g0154 a0001c0001t0001g0167 a0001c0002t0002g0046 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0184 a0001c0002t0002g0252 a0001c0002t0002g0273 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0008g0032 a0001c0002t0019g0025	12	162	0.0741	24	c.915 others(41): Show c.915-1906_915-1905insTATATATATATACACATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38704834	A A	ATGTGTAT others(17): Show ATGTGTATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03927.hp2 HG01261.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0223 a0001c0001t0003g0179 a0001c0001t0003g0223	2	236	0.0085	24	c.915 others(41): Show c.915-1914_915-1913insCACATATATATATATATATACACA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38717427	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0300 a0001c0001t0018g0300	1	212	0.0047	24	c.914 others(41): Show c.914+6344_914+6345insTATATATATATATATATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38717429	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01071.hp1 HG02293.hp2 others(4): Show HG00735.hp2 HG01071.hp1 HG02293.hp2 HG02896.hp2 HG02897.hp1 NA18960.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0118 others(4): Show a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0133 a0001c0001t0001g0245 a0001c0001t0001g0249	7	56	0.1250	24	c.914 others(41): Show c.914+6342_914+6343insTATATATATATATATATATATACA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38760435	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02896.hp1 HG03041.hp1 others(1): Show HG02615.hp1 HG02896.hp1 HG03041.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0334 a0001c0001t0007g0335 a0001c0001t0007g0336 others(1): Show a0001c0001t0007g0334 a0001c0001t0007g0335 a0001c0001t0007g0336 a0001c0001t0007g0337	4	138	0.0290	24	c.722 others(39): Show c.722+411_722+412insTATATATATATATATATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38795867	G G	GGATAGAT others(17): Show GGATAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0162 a0001c0001t0004g0162	1	13	0.0769	24	c.408 others(43): Show c.408-19590_408-19567dupTATCTATCTATCTATCTATCTATC	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	6/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38842837	A A	AAAAAGTG others(17): Show AAAAAGTGCTGGGATTACAGGCGTG	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0183 a0001c0001t0006g0183	1	340	0.0029	24	c.291 others(41): Show c.291-2906_291-2883dupCACGCCTGTAATCCCAGCACTTTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	4/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902393	G G	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18939.hp2 NA18981.hp2 others(5): Show HG02630.hp1 NA18939.hp2 NA18981.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19090.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0149 others(5): Show a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0005g0145	8	186	0.0430	24	c.98+ others(39): Show c.98+3020_98+3043dupTTCTTTCTTTCTTTCTTTCTTTCT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902417	A A	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02486.hp1 NA19002.hp1 HG02165.hp2 HG02486.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0085 a0001c0001t0001g0322 a0001c0001t0004g0320 a0001c0001t0001g0085 a0001c0001t0001g0322 a0001c0001t0004g0320	3	237	0.0127	24	c.98+ others(39): Show c.98+3019_98+3020insCTCTTTCTTTCTTTCTTTCTTTCT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPO_chr2_206934518_206974474	206935766	T T	TATCCATC others(17): Show TATCCATCCATCCATCCACCCATCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0155 a0003c0005t0001g0155	1	417	0.0024	24	c.-38 others(35): Show c.-3834_-3833insATCCATCCATCCATCCACCCATCC	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding		3751		chr2	TogoVar
CPO_chr2_206934518_206974474	206935784	C C	CCCATCCA others(17): Show CCCATCCATCCATCCATCCATCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp2 HG02897.hp1 others(7): Show HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03516.hp1 HG03579.hp2 NA18945.hp2 NA18999.hp1 NA19030.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0002c0008	a0001c0001t0001 a0001c0004t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0002c0003t0001 a0002c0008t0001	a0001c0001t0001g0022 a0001c0001t0001g0104 a0001c0001t0001g0106 others(6): Show a0001c0001t0001g0022 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0254 a0001c0004t0001g0102 a0001c0004t0001g0114 a0002c0003t0001g0132 a0002c0008t0001g0105	10	274	0.0365	24	c.-38 others(35): Show c.-3816_-3815insCCATCCATCCATCCATCCATCCAT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding		3733		chr2	TogoVar
CPQ_chr8_96640242_97148501	96730866	C C	CATACATA others(17): Show CATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01884.hp1 HG01975.hp1 others(8): Show HG00099.hp1 HG01884.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02717.hp1 HG02895.hp2 NA18747.hp2 NA18945.hp2 NA18962.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0009 a0001c0001 a0001c0002 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0005c0009t0001	a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0057 others(8): Show a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0057 a0001c0001t0001g0077 a0001c0001t0001g0105 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0002t0001g0056 a0001c0002t0001g0060 a0001c0002t0001g0123 a0005c0009t0001g0063	11	56	0.1964	24	c.-34 others(43): Show c.-34-53995_-34-53994insCATATATATATATATATATATATA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96730866	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	46	0.0217	24	c.-34 others(43): Show c.-34-53995_-34-53972dupATATATATATATATATATATATAT	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(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	53	0.0189	24	c.-34 others(43): Show c.-34-47495_-34-47494insATATATATATATATATATATATAT	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(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18979.hp1 HG02040.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0106 a0001c0002t0001g0061 a0001c0002t0001g0106	2	62	0.0323	24	c.641 others(43): Show c.641+19356_641+19379dupAAAAAAAAAAAAAAAAAAAAAAAA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96926540	T T	TTCTTCCT others(17): Show TTCTTCCTCTTCCTCTTCCTCTTCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0053 a0002c0003t0001g0053	1	123	0.0081	24	c.850 others(43): Show c.850-39377_850-39354dupCTCTTCCTCTTCCTCTTCCTCTTC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96926576	C C	CTCTTCCT others(17): Show CTCTTCCTCTTCCTCTTCCTCTTCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	18	0.0556	24	c.850 others(43): Show c.850-39354_850-39353insCTCTTCCTCTTCCTCTTCTTCTTC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96926576	C C	CTCTTCCT others(17): Show CTCTTCCTCTTCCTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA19009.hp1 NA19066.hp1 HG02004.hp2 NA19009.hp1 NA19066.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0010 a0001c0002 a0006c0010	a0001c0002t0001 a0006c0010t0001 a0001c0002t0001 a0006c0010t0001	a0001c0002t0001g0059 a0001c0002t0001g0066 a0006c0010t0001g0045 a0001c0002t0001g0059 a0001c0002t0001g0066 a0006c0010t0001g0045	3	20	0.1500	24	c.850 others(43): Show c.850-39354_850-39353insCTCTTCCTCTTCTTCTTCTTCTTC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96926576	C C	CTCTTCCT others(17): Show CTCTTCCTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	18	0.0556	24	c.850 others(43): Show c.850-39354_850-39353insCTCTTCTTCTTCTTCTTCTTCTTC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96926576	C C	CTCTTCTT others(17): Show CTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp2 HG02723.hp2 others(1): Show HG02572.hp1 HG02717.hp2 HG02723.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0041 a0001c0001t0001g0105 a0001c0001t0002g0021 others(1): Show a0001c0001t0001g0041 a0001c0001t0001g0105 a0001c0001t0002g0021 a0001c0002t0001g0006	4	21	0.1905	24	c.850 others(43): Show c.850-39334_850-39311dupTCTTCTTCTTCTTCTTCTTCTTCT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97122932	A A	AAAATAAA others(17): Show AAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	117	0.0085	24	c.125 others(45): Show c.1256-20084_1256-20061dupTAAAATAAAATAAAATAAAATAAA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPSF2_chr14_92116969_92177145	92165854	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0123 a0001c0001t0056g0123	1	75	0.0133	24	c.41 others(35): Show c.4112_*4135dupTTTTTTTTTTTTTTTTTTTTTTTT	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding	16/16	4136	INFO_REALIGN_3_PRIME	chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173330	T T	TATATATA others(17): Show TATATATATATATATACATACATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA19009.hp1 NA18972.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0135 a0001c0001t0006 a0001c0001t0135	a0001c0001t0006g0014 a0001c0001t0135g0184 a0001c0001t0006g0014 a0001c0001t0135g0184	2	262	0.0076	24	c.11 others(37): Show c.11586_*11587insATATATATATATATACATACATAC	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1186		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173330	T T	TATATATA others(17): Show TATATATATATATATATATACATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 NA18942.hp1 HG02015.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0163 a0001c0001t0005 a0001c0001t0163	a0001c0001t0005g0002 a0001c0001t0163g0014 a0001c0001t0005g0002 a0001c0001t0163g0014	2	262	0.0076	24	c.11 others(37): Show c.11586_*11587insATATATATATATATATATACATAC	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1186		chr14	TogoVar
CPSF3_chr2_9418654_9478101	9436774	A A	AAAAAAAA others(17): Show AAAAAAAAAAATAAAAAATAATAAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA19070.hp2 NA19079.hp2 others(1): Show HG02135.hp2 NA19070.hp2 NA19079.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 others(1): Show a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0204	4	123	0.0325	24	c.760 others(39): Show c.760+415_760+416insAAAAAAAATAAAAAATAATAATAA	CPSF3	ENSG00000119203.14	transcript	ENST00000238112.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF3_chr2_9418654_9478101	9436774	A A	AAATAATA others(17): Show AAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01934.hp1 HG02027.hp1 others(2): Show HG01074.hp2 HG01934.hp1 HG02027.hp1 HG03688.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0032 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0045 a0001c0001t0001g0048	5	124	0.0403	24	c.760 others(39): Show c.760+435_760+436insATAATAATAATAATAATAATAATA	CPSF3	ENSG00000119203.14	transcript	ENST00000238112.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF4_chr7_99433943_99462373	99440655	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0111 a0001c0003t0002g0111	1	326	0.0031	24	c.103 others(41): Show c.103+1490_103+1491insATATATATATATATATATATATAT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440655	C C	CGCATATA others(17): Show CGCATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0103 a0001c0003t0002g0103	1	326	0.0031	24	c.103 others(41): Show c.103+1470_103+1471insGCATATATATATATATATATATAT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7			chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	161	0.0062	24	c.103 others(41): Show c.103+1490_103+1491insATATATATATATATATATTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF6_chr12_69234569_69279358	69249152	C C	CGGTGGGG others(17): Show CGGTGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	156	0.0064	24	c.61- others(39): Show c.61-1975_61-1974insTGGGGGGGGGGGGGGGGGGGGGGG	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
CPSF7_chr11_61397729_61434975	61434591	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	131	0.0076	24	c.-47 others(35): Show c.-4734_-4733insAAAAAAAAAAAAAAAAAAAAAAAA	CPSF7	ENSG00000149532.16	transcript	ENST00000439958.8	protein_coding		4617		chr11	TogoVar
CPT1C_chr19_49686116_49718731	49701110	C C	CCCCCCTC others(17): Show CCCCCCTCTCTCTCTGGGTCTCTGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00621.hp2 others(83): Show HG00280.hp2 HG00423.hp2 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01168.hp1 HG01169.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02683.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03654.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0011 a0001c0001 a0002c0003 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0002c0003t0001 a0002c0003t0002 a0005c0011t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(78): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0304 a0001c0001t0001g0310 a0001c0001t0002g0003 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0024 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0208 a0001c0001t0003g0052 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0084 a0001c0001t0005g0057 a0001c0001t0005g0082 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0007g0099 a0002c0003t0001g0142 a0002c0003t0002g0089 a0002c0003t0002g0093 a0002c0003t0002g0106 a0005c0011t0001g0124	86	306	0.2810	24	c.454 others(39): Show c.454-194_454-171dupCTGGGTCTCTGTCCCCCTCTCTCT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49703563	T T	TCCTCCCT others(17): Show TCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG03017.hp1 others(3): Show HG00099.hp2 HG00280.hp1 HG03017.hp1 HG04199.hp1 HG04228.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0228 a0001c0001t0001g0239 a0001c0001t0003g0056 others(3): Show a0001c0001t0001g0228 a0001c0001t0001g0239 a0001c0001t0003g0056 a0001c0001t0003g0059 a0001c0001t0003g0064 a0001c0001t0003g0069	6	251	0.0239	24	c.694 others(41): Show c.694-1135_694-1112dupCCCTCCCTCCCTCCCTCCCTCCCT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49703587	C C	CCTTCCCT others(17): Show CCTTCCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02109.hp2 HG02965.hp2 HG01192.hp2 HG02109.hp2 HG02965.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0007 a0001c0002 a0004c0007	a0001c0002t0002 a0004c0007t0002 a0001c0002t0002 a0004c0007t0002	a0001c0002t0002g0198 a0001c0002t0002g0206 a0004c0007t0002g0207 a0001c0002t0002g0198 a0001c0002t0002g0206 a0004c0007t0002g0207	3	330	0.0091	24	c.694 others(41): Show c.694-1122_694-1121insTTCCCTTCCTTCCTTCCTTCCTTC	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49703595	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19002.hp2 NA19087.hp1 HG03453.hp2 NA19002.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0002g0172 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0002g0172	3	234	0.0128	24	c.694 others(41): Show c.694-1112_694-1111insCCCTCCCTCCCTCCCTCCCTTCCT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49703595	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTCCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01168.hp1 HG01928.hp1 others(5): Show HG00642.hp1 HG01168.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0003 a0001c0001t0002g0045 a0001c0001t0002g0046 others(3): Show a0001c0001t0002g0003 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0050 a0002c0003t0001g0142	8	239	0.0335	24	c.694 others(41): Show c.694-1112_694-1111insCCCTCCCTCCCTTCCTTCCTTCCT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49703595	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02055.hp1 HG02523.hp1 others(4): Show HG00423.hp2 HG02055.hp1 HG02523.hp1 HG03130.hp2 HG03209.hp1 NA18747.hp2 NA19062.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0104 others(4): Show a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0112 a0002c0003t0002g0093 a0002c0003t0002g0106	7	238	0.0294	24	c.694 others(41): Show c.694-1112_694-1111insCCCTCCCTTCCTTCCTTCCTTCCT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49703595	C C	CCCTCCCT others(17): Show CCCTCCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	232	0.0043	24	c.694 others(41): Show c.694-1112_694-1111insCCCTTCCTTCCTTCCTTCCTTCCT	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49703595	C C	CCCTTCCT others(17): Show CCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18962.hp2 NA18952.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0115 a0001c0001t0002g0116	2	233	0.0086	24	c.694 others(41): Show c.694-1113_694-1090dupCTTCCTTCCTTCCTTCCTTCCTTC	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPTP_chr1_1319802_1333896	1324155	A A	AGAGGCTG others(17): Show AGAGGCTGGGGAGCTGGGGAGCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00733.hp2 HG00735.hp2 others(25): Show HG00280.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01081.hp1 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01515.hp2 HG01517.hp2 HG02004.hp2 HG02257.hp2 HG02559.hp1 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0001 a0001c0001t0023g0001 a0001c0001t0001g0001 a0001c0001t0023g0001	28	376	0.0745	24	c.-10 others(35): Show c.-1023_-1022insGAGGCTGGGGAGCTGGGGAGCTGG	CPTP	ENSG00000224051.7	transcript	ENST00000343938.9	protein_coding		646		chr1	TogoVar
CPZ_chr4_8587765_8624752	8605322	T T	TCATCCAT others(17): Show TCATCCATCCATCCATCCATCCATC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	116	0.0086	24	c.710 others(39): Show c.710-663_710-640dupCCATCCATCCATCCATCCATCCAT	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar

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