Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CPNE7_chr16_89570758_89602246	89588012	C C	CCCGCGTG others(30): Show CCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	327	0.0031	37	c.928 others(52): Show c.928-661_928-660insGCGTGTCACCCACAGAAACACGGCCCCCGT GTCAGCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588065	C C	CCCCCCAT others(30): Show CCCCCCATGTCACCCGCGTGTCACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA19057.hp1 NA18970.hp2 NA19057.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0021 a0001c0001 a0011c0021	a0001c0001t0001 a0011c0021t0001 a0001c0001t0001 a0011c0021t0001	a0001c0001t0001g0187 a0011c0021t0001g0216 a0001c0001t0001g0187 a0011c0021t0001g0216	2	331	0.0060	37	c.928 others(52): Show c.928-605_928-604insATGTCACCCGCGTGTCACCCACAGATACAC GGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588065	C C	CCCCCCGT others(30): Show CCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0128 a0002c0003t0003g0128	1	330	0.0030	37	c.928 others(52): Show c.928-601_928-600insCACCCGCGTGTCACCCACAGAAACACGGCC CCCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588069	C C	CGTGTCAC others(30): Show CGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0077 a0002c0003t0003g0077	1	283	0.0035	37	c.928 others(52): Show c.928-606_928-605insGTGTCACCCACAGATACACGGCCCCCCGTG TCACCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588095	C C	CCGTGTCA others(30): Show CCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	232	0.0043	37	c.928 others(52): Show c.928-463_928-427dupCACCCACAGATACACGGCCCCCGTGTCACC CGCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE8_chr12_38647203_38910591	38902393	G G	GAAAGAAA others(30): Show GAAAGAAAGAAAAGAAAGAAAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	179	0.0056	37	c.98+ others(52): Show c.98+3043_98+3044insTTCTTTCTTTCTTTCTCTTTCTTTCTTTTC TTTCTTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPOX_chr3_98574446_98598611	98579681	T T	TCTTAAGA others(30): Show TCTTAAGAGCAAAGAGCTGCAGAATCTCTAATATAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0120 a0001c0001t0022g0120	1	446	0.0022	37	c.96 others(47): Show c.965_*1001dupTTTTATATTAGAGATTCTGCAGCTCTTTGCTCTTA AG	CPOX	ENSG00000080819.9	transcript	ENST00000647941.2	protein_coding	7/7	1001		chr3	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0113 a0001c0003t0002g0113	1	161	0.0062	37	c.103 others(54): Show c.103+1490_103+1491insATATATATATATATATATATATATATAT ATATTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0023 a0001c0003t0002g0023	1	161	0.0062	37	c.103 others(54): Show c.103+1490_103+1491insATATATATATATATATATATATATATAT TTTTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02896.hp2 HG02257.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0086 a0001c0001t0002g0057 a0001c0001t0002g0086	2	162	0.0123	37	c.103 others(54): Show c.103+1490_103+1491insATATATATATATATATATATATATATGT TTTTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPT1C_chr19_49686116_49718731	49702076	T T	TATAAATA others(30): Show TATAAATAAATATATATTTATTTATTTATAATTTATAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02922.hp1 NA19240.hp2 HG02451.hp1 HG02922.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0082 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0005g0082 a0001c0001t0006g0108 a0001c0001t0006g0109	3	327	0.0092	37	c.693 others(52): Show c.693+449_693+450insAATATATATTTATTTATTTATAATTTATAA ATAAATA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49702080	A A	AATAAATA others(30): Show AATAAATATATATTTATTTATAAATTATAAATAAATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	306	0.0033	37	c.693 others(52): Show c.693+449_693+450insAATATATATTTATTTATAAATTATAAATAA ATATATA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49702101	T T	TATAAATA others(30): Show TATAAATAAATATATATTTATTTATTTATAAATTATAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19005.hp1 HG02809.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0095 a0001c0001t0007g0099 a0001c0001t0002g0095 a0001c0001t0007g0099	2	288	0.0069	37	c.693 others(52): Show c.693+474_693+475insAATATATATTTATTTATTTATAAATTATAA ATAAATA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPZ_chr4_8587765_8624752	8609487	G G	GGTTCTCT others(30): Show GGTTCTCTGCTCAGACCTCTGCAAGTGCCCGCAGAGGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02559.hp1 others(21): Show HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03540.hp1 HG03579.hp1 NA19043.hp1 NA19240.hp2 NA20300.hp1	a0001 a0004 a0012 others(1): Show a0001 a0004 a0012 a0028	a0001c0049 a0004c0002 a0004c0029 others(2): Show a0001c0049 a0004c0002 a0004c0029 a0012c0041 a0028c0068	a0001c0049t0002 a0004c0002t0002 a0004c0029t0002 others(2): Show a0001c0049t0002 a0004c0002t0002 a0004c0029t0002 a0012c0041t0002 a0028c0068t0002	a0001c0049t0002g0180 a0004c0002t0002g0018 a0004c0002t0002g0052 others(15): Show a0001c0049t0002g0180 a0004c0002t0002g0018 a0004c0002t0002g0052 a0004c0002t0002g0053 a0004c0002t0002g0054 a0004c0002t0002g0109 a0004c0002t0002g0173 a0004c0002t0002g0175 a0004c0002t0002g0176 a0004c0002t0002g0177 a0004c0002t0002g0178 a0004c0002t0002g0182 a0004c0002t0002g0189 a0004c0002t0002g0229 a0004c0002t0002g0230 a0004c0029t0002g0059 a0012c0041t0002g0184 a0028c0068t0002g0244	24	440	0.0545	37	c.122 others(56): Show c.1227+2064_1227+2100dupTTCTCTGCTCAGACCTCTGCAAGTGC CCGCAGAGGTG	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACD_chr4_56044098_56335609	56183287	A A	AAATAAAA others(30): Show AAATAAAATAAAATAAAATAAAATAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0001 a0002c0005t0006g0001	1	245	0.0041	37	c.-18 others(56): Show c.-189+3859_-189+3860insTAAAATAAAATAAAATAAAATAAATA AAATAAAATAA	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACR2B_chr11_822919_836986	833070	G G	GGCGAGGG others(30): Show GGCGAGGGGGGGCGAGGGGCGCGAGGGGGGCGAGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	123	0.0081	37	c.13 others(48): Show c.1361_*1362insGCGAGGGGGGGCGAGGGGCGCGAGGGGGGCGAGG GGC	CRACR2B	ENSG00000177685.17	transcript	ENST00000525077.2	protein_coding		1085		chr11	TogoVar
CRACR2B_chr11_822919_836986	833092	A A	AGGGGGGG others(30): Show AGGGGGGGCGAGGGGCGCGAGGGGGGCGAGGGGCGCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0001 a0001c0001t0020g0001	1	445	0.0022	37	c.13 others(48): Show c.1383_*1384insGGGGGGGCGAGGGGCGCGAGGGGGGCGAGGGGCG CGA	CRACR2B	ENSG00000177685.17	transcript	ENST00000525077.2	protein_coding		1107		chr11	TogoVar
CRACR2B_chr11_822919_836986	833110	A A	AGGGGGGC others(30): Show AGGGGGGCGAGGGGCGCGAGGGGGGCGAGGGGCGCGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0003 a0003c0003t0010g0003	1	445	0.0022	37	c.14 others(48): Show c.1401_*1402insGGGGGGCGAGGGGCGCGAGGGGGGCGAGGGGCGC GAG	CRACR2B	ENSG00000177685.17	transcript	ENST00000525077.2	protein_coding		1125		chr11	TogoVar
CREBBP_chr16_3720054_3885713	3759588	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0231 a0001c0004t0006g0231	1	212	0.0047	37	c.325 others(54): Show c.3251-617_3251-616insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	16/30			chr16	TogoVar
CROCC2_chr2_240901336_240998311	240924519	C C	CAACACTA others(30): Show CAACACTAACCCGGCCCCCCACACTAACCCGGCCCCCA	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18951.hp2 HG00438.hp2 NA18951.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0002 a0008c0008t0002 a0001c0001t0002 a0008c0008t0002	a0001c0001t0002g0265 a0008c0008t0002g0267 a0001c0001t0002g0265 a0008c0008t0002g0267	2	344	0.0058	37	c.489 others(54): Show c.489-1204_489-1203insACACTAACCCGGCCCCCCACACTAACCC GGCCCCCAA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRPPA_chr7_16082525_16426538	16342782	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18962.hp1 NA18951.hp2 NA18962.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0022 a0004c0005t0022	a0004c0005t0022g0209 a0004c0005t0022g0210 a0004c0005t0022g0209 a0004c0005t0022g0210	2	11	0.1818	37	c.684 others(56): Show c.684+33309_684+33310insATATATATATATATATATATATATAT TTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9			chr7	TogoVar
CRTC3_chr15_90524923_90650345	90647293	C C	CCAAATTC others(30): Show CCAAATTCCACAGCCCTCCTCCACCTCTACACCCACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG03516.hp1 HG03540.hp1 HG02886.hp1 HG03516.hp1 HG03540.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0036 a0001c0001t0001g0165 a0004c0005t0001g0084 a0001c0001t0001g0036 a0001c0001t0001g0165 a0004c0005t0001g0084	3	235	0.0128	37	c.51 others(48): Show c.5153_*5154insCAAATTCCACAGCCCTCCTCCACCTCTACACCCA CTG	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1949		chr15	TogoVar
CRYBB2_chr22_25214639_25236869	25218810	G G	GAAAGAAA others(30): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	462	0.0022	37	c.-88 others(46): Show c.-883_-882insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG A	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		828		chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106361953	T T	TTTTCTTT others(30): Show TTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0005 a0003c0002t0005	a0003c0002t0005g0005 a0003c0002t0005g0005	1	183	0.0055	37	c.173 others(52): Show c.173+875_173+876insCTTTCTTTCTTTCCTTTCTTTCTTTCTTTC TTTCTTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106361969	C C	CTTTCTTT others(30): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03098.hp1 HG04199.hp2 others(1): Show HG01099.hp2 HG03098.hp1 HG04199.hp2 HG04204.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0024 a0004c0004 a0001c0001 a0001c0024 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0001c0024t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0024t0001 a0004c0004t0002	a0001c0001t0001g0194 a0001c0001t0003g0195 a0001c0024t0001g0193 others(1): Show a0001c0001t0001g0194 a0001c0001t0003g0195 a0001c0024t0001g0193 a0004c0004t0002g0192	4	178	0.0225	37	c.173 others(52): Show c.173+891_173+892insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CSE1L_chr20_49041312_49101949	49047564	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0373 a0001c0001t0001g0373	1	62	0.0161	37	c.-12 others(54): Show c.-12+1169_-12+1170insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGGTGTGT others(30): Show GGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG04228.hp1 HG03669.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0002 a0001c0001t0002 a0001c0006t0002	a0001c0001t0002g0125 a0001c0006t0002g0109 a0001c0001t0002g0125 a0001c0006t0002g0109	2	10	0.2000	37	c.562 others(56): Show c.5621-1628_5621-1627insACACACACACACACACACACACACAC ACACACACACC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3709680	G G	GTTTTTTT others(30): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0030 a0030	a0030c0106 a0030c0106	a0030c0106t0014 a0030c0106t0014	a0030c0106t0014g0042 a0030c0106t0014g0042	1	37	0.0270	37	c.932 others(54): Show c.932-1190_932-1189insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4840160	A A	ATCACCTG others(30): Show ATCACCTGCACCTGCGTCGTGGCCCACCCTCATGCAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp1 others(97): Show HG00099.hp1 HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00735.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18995.hp1 NA18995.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19074.hp1 NA19074.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(28): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0018 a0019 a0023 a0024 a0025 a0026 a0027 a0029 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038	a0001c0001 a0001c0002 a0001c0003 others(89): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0017 a0001c0019 a0001c0021 a0001c0025 a0001c0033 a0001c0040 a0001c0043 a0001c0045 a0001c0046 a0001c0047 a0001c0049 a0001c0050 a0001c0059 a0001c0061 a0001c0068 a0001c0071 a0001c0079 a0001c0080 a0001c0081 a0001c0085 a0001c0090 a0001c0094 a0001c0102 a0001c0103 a0001c0105 a0001c0108 a0001c0109 a0001c0114 a0002c0012 a0002c0022 a0002c0031 a0002c0035 a0002c0036 a0002c0037 a0002c0041 a0002c0048 a0002c0051 a0002c0053 a0002c0060 a0002c0070 a0002c0075 a0002c0076 a0002c0077 a0002c0078 a0002c0089 a0002c0091 a0002c0092 a0003c0056 a0003c0086 a0003c0087 a0003c0099 a0004c0014 a0004c0034 a0004c0057 a0004c0058 a0005c0064 a0005c0065 a0005c0107 a0006c0008 a0006c0067 a0007c0116 a0009c0097 a0010c0096 a0011c0016 a0012c0011 a0013c0018 a0014c0098 a0015c0063 a0016c0028 a0018c0042 a0019c0082 a0023c0069 a0024c0052 a0025c0066 a0026c0100 a0027c0110 a0029c0027 a0031c0113 a0032c0024 a0033c0013 a0034c0055 a0035c0023 a0036c0095 a0037c0009 a0038c0104	a0001c0001t0002 a0001c0001t0038 a0001c0002t0002 others(96): Show a0001c0001t0002 a0001c0001t0038 a0001c0002t0002 a0001c0002t0061 a0001c0003t0008 a0001c0003t0011 a0001c0003t0019 a0001c0004t0063 a0001c0005t0002 a0001c0005t0006 a0001c0006t0002 a0001c0006t0060 a0001c0007t0001 a0001c0007t0032 a0001c0017t0005 a0001c0019t0078 a0001c0021t0005 a0001c0025t0003 a0001c0033t0003 a0001c0040t0019 a0001c0043t0031 a0001c0045t0014 a0001c0046t0073 a0001c0047t0012 a0001c0049t0002 a0001c0050t0052 a0001c0059t0001 a0001c0061t0001 a0001c0068t0015 a0001c0071t0067 a0001c0079t0070 a0001c0080t0041 a0001c0081t0036 a0001c0085t0020 a0001c0090t0001 a0001c0094t0002 a0001c0102t0005 a0001c0103t0033 a0001c0105t0001 a0001c0108t0054 a0001c0109t0037 a0001c0114t0003 a0002c0012t0016 a0002c0022t0035 a0002c0031t0015 a0002c0035t0047 a0002c0036t0030 a0002c0037t0009 a0002c0041t0025 a0002c0048t0011 a0002c0051t0007 a0002c0053t0022 a0002c0060t0007 a0002c0070t0046 a0002c0075t0028 a0002c0076t0039 a0002c0077t0001 a0002c0078t0044 a0002c0089t0001 a0002c0091t0002 a0002c0092t0001 a0003c0056t0062 a0003c0086t0002 a0003c0087t0001 a0003c0099t0012 a0004c0014t0055 a0004c0034t0029 a0004c0057t0080 a0004c0058t0056 a0005c0064t0050 a0005c0065t0023 a0005c0107t0066 a0006c0008t0082 a0006c0067t0059 a0007c0116t0004 a0009c0097t0017 a0010c0096t0065 a0011c0016t0048 a0012c0011t0072 a0013c0018t0058 a0014c0098t0027 a0015c0063t0010 a0016c0028t0024 a0018c0042t0004 a0019c0082t0051 a0023c0069t0043 a0024c0052t0049 a0025c0066t0010 a0026c0100t0016 a0027c0110t0074 a0029c0027t0003 a0031c0113t0013 a0032c0024t0077 a0033c0013t0006 a0034c0055t0034 a0035c0023t0001 a0036c0095t0002 a0037c0009t0001 a0038c0104t0069	a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0038g0017 others(97): Show a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0038g0017 a0001c0002t0002g0083 a0001c0002t0061g0069 a0001c0003t0008g0053 a0001c0003t0011g0026 a0001c0003t0019g0107 a0001c0004t0063g0095 a0001c0005t0002g0111 a0001c0005t0006g0070 a0001c0006t0002g0109 a0001c0006t0060g0103 a0001c0007t0001g0035 a0001c0007t0032g0033 a0001c0017t0005g0003 a0001c0019t0078g0105 a0001c0021t0005g0012 a0001c0025t0003g0077 a0001c0033t0003g0059 a0001c0040t0019g0123 a0001c0043t0031g0044 a0001c0045t0014g0010 a0001c0046t0073g0091 a0001c0047t0012g0024 a0001c0049t0002g0071 a0001c0050t0052g0120 a0001c0059t0001g0036 a0001c0061t0001g0021 a0001c0068t0015g0049 a0001c0071t0067g0115 a0001c0079t0070g0113 a0001c0080t0041g0025 a0001c0081t0036g0030 a0001c0085t0020g0060 a0001c0090t0001g0027 a0001c0094t0002g0110 a0001c0102t0005g0034 a0001c0103t0033g0028 a0001c0105t0001g0029 a0001c0108t0054g0074 a0001c0109t0037g0013 a0001c0114t0003g0119 a0002c0012t0016g0088 a0002c0022t0035g0048 a0002c0031t0015g0001 a0002c0035t0047g0076 a0002c0036t0030g0009 a0002c0037t0009g0046 a0002c0041t0025g0018 a0002c0048t0011g0015 a0002c0051t0007g0081 a0002c0053t0022g0041 a0002c0060t0007g0094 a0002c0070t0046g0092 a0002c0075t0028g0051 a0002c0076t0039g0014 a0002c0077t0001g0016 a0002c0078t0044g0064 a0002c0089t0001g0037 a0002c0091t0002g0114 a0002c0092t0001g0011 a0003c0056t0062g0072 a0003c0086t0002g0118 a0003c0087t0001g0022 a0003c0099t0012g0020 a0004c0014t0055g0056 a0004c0034t0029g0038 a0004c0057t0080g0075 a0004c0058t0056g0117 a0005c0064t0050g0078 a0005c0065t0023g0050 a0005c0107t0066g0073 a0006c0008t0082g0126 a0006c0067t0059g0079 a0007c0116t0004g0039 a0009c0097t0017g0089 a0010c0096t0065g0116 a0011c0016t0048g0106 a0012c0011t0072g0101 a0013c0018t0058g0068 a0014c0098t0027g0019 a0015c0063t0010g0045 a0016c0028t0024g0040 a0018c0042t0004g0004 a0019c0082t0051g0097 a0023c0069t0043g0100 a0024c0052t0049g0098 a0025c0066t0010g0032 a0026c0100t0016g0121 a0027c0110t0074g0082 a0029c0027t0003g0099 a0031c0113t0013g0043 a0032c0024t0077g0104 a0033c0013t0006g0112 a0034c0055t0034g0047 a0035c0023t0001g0052 a0036c0095t0002g0124 a0037c0009t0001g0002 a0038c0104t0069g0058	100	126	0.7937	37	c.85+ others(56): Show c.85+154171_85+154172insCCTGCATGAGGGTGGGCCACGACGCA GGTGCAGGTGA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4840178	G G	GTGGCCCA others(30): Show GTGGCCCACCCTCATGCAGGTCACCTGCACCTGCGTCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0017 a0017	a0017c0101 a0017c0101	a0017c0101t0008 a0017c0101t0008	a0017c0101t0008g0023 a0017c0101t0008g0023	1	126	0.0079	37	c.85+ others(56): Show c.85+154153_85+154154insGGACGCAGGTGCAGGTGACCTGCATG AGGGTGGGCCA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSNK1D_chr17_82237667_82278700	82254211	A A	AGCTGAGC others(30): Show AGCTGAGCCGCCGGAGCCTCGAGAAGCCAGTGCAGTGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp2 HG06807.hp2 HG02572.hp1 HG02647.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0223 a0001c0001t0008g0224 a0001c0001t0008g0225 a0001c0001t0008g0223 a0001c0001t0008g0224 a0001c0001t0008g0225	3	311	0.0096	37	c.337 others(53): Show c.337-1004_337-968dupGCACTGCACTGGCTTCTCGAGGCTCCGGC GGCTCAGC	CSNK1D	ENSG00000141551.15	transcript	ENST00000314028.11	protein_coding	3/8			chr17	TogoVar
CSNK1D_chr17_82237667_82278700	82254299	A A	AGCCTCGA others(30): Show AGCCTCGAGAAGCCAGTGCAGTGCGCTGAGCCGCCGGG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	311	0.0032	37	c.337 others(54): Show c.337-1056_337-1055insCCCGGCGGCTCAGCGCACTGCACTGGCT TCTCGAGGC	CSNK1D	ENSG00000141551.15	transcript	ENST00000314028.11	protein_coding	3/8			chr17	TogoVar
CSNK2A2_chr16_58152907_58203106	58171979	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	253	0.0040	37	c.429 others(54): Show c.429+2471_429+2472insAAATATATATATATATATATATATATAT ATATATATA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSRNP2_chr12_51056205_51088596	51071351	T T	TCGCTTGA others(30): Show TCGCTTGAGGATTGCCTCTGTGCTCCAGCCTGGATGAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG04228.hp1 NA18747.hp1 others(5): Show HG00673.hp2 HG04228.hp1 NA18747.hp1 NA18984.hp2 NA19001.hp2 NA19009.hp2 NA19057.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0208 a0001c0001t0001g0211 others(4): Show a0001c0001t0001g0049 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0256	8	418	0.0191	37	c.411 others(54): Show c.411+2435_411+2471dupGTCATCCAGGCTGGAGCACAGAGGCAAT CCTCAAGCG	CSRNP2	ENSG00000110925.7	transcript	ENST00000228515.6	protein_coding	3/4			chr12	TogoVar
CSRNP3_chr2_165464698_165694407	165667085	A A	AAGAAAGA others(30): Show AAGAAAGAGAGAGGAAGGAAGGAAGGAAAGAGAGAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03453.hp2 HG02723.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0031 a0001c0002t0002 a0001c0001t0031 a0001c0002t0002	a0001c0001t0031g0226 a0001c0002t0002g0002 a0001c0001t0031g0226 a0001c0002t0002g0002	2	93	0.0215	37	c.408 others(54): Show c.408+9068_408+9069insAAGAGAGAGGAAGGAAGGAAGGAAAGAG AGAAAGAGA	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CST8_chr20_23486117_23501010	23490123	A A	ATTATATA others(30): Show ATTATATATATAATATATATATAAATTATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	434	0.0023	37	c.-13 others(48): Show c.-1363_-1362insTTATATATATAATATATATATAAATTATATATAT ATT	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		993		chr20	TogoVar
CST8_chr20_23486117_23501010	23490126	A A	ATATATAT others(30): Show ATATATATAATATATATATAAATTATATATATATTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01346.hp2 HG02886.hp1 others(7): Show HG00423.hp1 HG01346.hp2 HG02886.hp1 NA18948.hp2 NA18954.hp2 NA18959.hp1 NA19003.hp1 NA19065.hp1 NA19081.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	10	438	0.0228	37	c.-13 others(48): Show c.-1360_-1359insTATATATAATATATATATAAATTATATATATATT AAT	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		990		chr20	TogoVar
CST8_chr20_23486117_23501010	23490409	T T	TTATATAT others(30): Show TTATATATAAAATATATATAATTTATATATAGAAATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 NA19091.hp2 HG03654.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0007	2	375	0.0053	37	c.-10 others(48): Show c.-1077_-1076insTATATATAAAATATATATAATTTATATATAGAAA TTA	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		707		chr20	TogoVar
CT45A1_chrX_135708639_135728228	135712982	C C	CTTTTCTT others(30): Show CTTTTCTTTCTCCTTCCTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18985.hp1 NA19005.hp1 others(1): Show NA18983.hp1 NA18985.hp1 NA19005.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0005	4	28	0.1429	37	c.-71 others(46): Show c.-715_-714insTTTTCTTTCTCCTTCCTTCCTTCCTTCCTTCCTTCC T	CT45A1	ENSG00000268940.6	transcript	ENST00000594565.6	protein_coding		656		chrX	TogoVar
CTAGE15_chr7_143566801_143579387	143568347	T T	TCCTGTTA others(30): Show TCCTGTTATAGAAAGAAGGCAAAACCATTTCAGGAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01952.hp1 HG02071.hp2 others(7): Show HG00642.hp1 HG01952.hp1 HG02071.hp2 HG02258.hp1 HG03130.hp2 HG03239.hp2 HG03540.hp2 HG03654.hp2 HG06807.hp2 NA19001.hp1	a0005 a0009 a0015 others(3): Show a0005 a0009 a0015 a0019 a0031 a0035	a0005c0004 a0009c0008 a0015c0023 others(3): Show a0005c0004 a0009c0008 a0015c0023 a0019c0053 a0031c0060 a0035c0061	a0005c0004t0001 a0009c0008t0001 a0015c0023t0001 others(3): Show a0005c0004t0001 a0009c0008t0001 a0015c0023t0001 a0019c0053t0002 a0031c0060t0001 a0035c0061t0001	a0005c0004t0001g0000 a0009c0008t0001g0000 a0015c0023t0001g0000 others(3): Show a0005c0004t0001g0000 a0009c0008t0001g0000 a0015c0023t0001g0000 a0019c0053t0002g0000 a0031c0060t0001g0000 a0035c0061t0001g0000	10	217	0.0461	37	c.-34 others(48): Show c.-3471_-3470insCCTGTTATAGAAAGAAGGCAAAACCATTTCAGGA AAC	CTAGE15	ENSG00000271079.1	transcript	ENST00000420911.2	protein_coding		3453		chr7	TogoVar
CTAGE6_chr7_143750089_143762696	143761014	C C	CTTCCTGA others(30): Show CTTCCTGAAATGGTTTTGCCCTCTTTCTATAACAGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19091.hp1 NA19081.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	2	190	0.0105	37	c.-33 others(48): Show c.-3357_-3356insACCCTGTTATAGAAAGAGGGCAAAACCATTTCAG GAA	CTAGE6	ENSG00000271321.1	transcript	ENST00000470691.2	protein_coding		3319		chr7	TogoVar
CTAGE6_chr7_143750089_143762696	143761034	C C	CTCTTTCT others(30): Show CTCTTTCTATAACAGGGTTTCCTGAAATGGTTTTGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01975.hp1 HG02300.hp2 others(10): Show HG00609.hp2 HG01975.hp1 HG02300.hp2 HG03041.hp2 HG03239.hp2 HG03654.hp1 NA18986.hp1 NA19002.hp1 NA19055.hp2 NA19058.hp1 NA19066.hp1 NA19072.hp2 NA21309.hp2	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0006 a0018 a0037 a0039 a0059	a0001c0001 a0003c0003 a0005c0005 others(5): Show a0001c0001 a0003c0003 a0005c0005 a0006c0057 a0018c0050 a0037c0063 a0039c0068 a0059c0029	a0001c0001t0002 a0003c0003t0001 a0005c0005t0001 others(5): Show a0001c0001t0002 a0003c0003t0001 a0005c0005t0001 a0006c0057t0002 a0018c0050t0001 a0037c0063t0001 a0039c0068t0001 a0059c0029t0001	a0001c0001t0002g0000 a0003c0003t0001g0000 a0005c0005t0001g0000 others(5): Show a0001c0001t0002g0000 a0003c0003t0001g0000 a0005c0005t0001g0000 a0006c0057t0002g0000 a0018c0050t0001g0000 a0037c0063t0001g0000 a0039c0068t0001g0000 a0059c0029t0001g0000	13	188	0.0691	37	c.-33 others(48): Show c.-3377_-3376insAGGCAAAACCATTTCAGGAAACCCTGTTATAGAA AGA	CTAGE6	ENSG00000271321.1	transcript	ENST00000470691.2	protein_coding		3339		chr7	TogoVar
CTCFL_chr20_57492166_57530140	57526906	G G	GGACTAAG others(30): Show GGACTAAGGACTGGTGGAAATGGACGCAGCAGGACTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0232 a0002c0005t0001g0232	1	422	0.0024	37	c.-18 others(48): Show c.-1891_-1890insGCAGTCCTGCTGCGTCCATTTCCACCAGTCCTTA GTC	CTCFL	ENSG00000124092.13	transcript	ENST00000243914.8	protein_coding		1767		chr20	TogoVar
CTDNEP1_chr17_7238591_7256734	7253609	T T	TACTACTG others(30): Show TACTACTGGACTCTACTTTATGGCTCTAACTAGACTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	37	c.-23 others(48): Show c.-2314_-2313insGGAGTCTAGTTAGAGCCATAAAGTAGAGTCCAGT AGT	CTDNEP1	ENSG00000175826.12	transcript	ENST00000574322.6	protein_coding		1876		chr17	TogoVar
CTDP1_chr18_79674803_79759503	79691764	G G	GGGGTGGG others(30): Show GGGGTGGGGAGGAGTGGACGGCTCCCAGGGCGGACTCA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18967.hp1 NA18962.hp2 NA18967.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0038 a0001c0003t0001g0039	2	313	0.0064	37	c.315 others(54): Show c.315-3432_315-3431insCGGACTCAGGGTGGGGAGGAGTGGACGG CTCCCAGGG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79691794	T T	TGGACTCA others(30): Show TGGACTCAGGGTGGGGAGGAGTGGACGGCTCCCAGGGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01123.hp1 others(52): Show HG00140.hp1 HG00735.hp2 HG01123.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp1 HG01975.hp1 HG01981.hp1 HG02040.hp2 HG02074.hp1 HG02132.hp1 HG02165.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04184.hp1 HG04228.hp2 NA18940.hp2 NA18943.hp1 NA18955.hp2 NA18963.hp2 NA18965.hp2 NA18987.hp2 NA18988.hp2 NA18990.hp2 NA18999.hp2 NA19004.hp1 NA19007.hp2 NA19066.hp2 NA19067.hp1 NA19080.hp2 NA19084.hp1 NA19088.hp1 NA19091.hp2 NA20905.hp1	a0001 a0012 a0013 others(1): Show a0001 a0012 a0013 a0018	a0001c0003 a0001c0016 a0001c0029 others(3): Show a0001c0003 a0001c0016 a0001c0029 a0012c0026 a0013c0027 a0018c0025	a0001c0003t0001 a0001c0003t0010 a0001c0003t0014 others(5): Show a0001c0003t0001 a0001c0003t0010 a0001c0003t0014 a0001c0016t0001 a0001c0029t0001 a0012c0026t0001 a0013c0027t0001 a0018c0025t0001	a0001c0003t0001g0002 a0001c0003t0001g0008 a0001c0003t0001g0029 others(50): Show a0001c0003t0001g0002 a0001c0003t0001g0008 a0001c0003t0001g0029 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0034 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0040 a0001c0003t0001g0041 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0335 a0001c0003t0001g0365 a0001c0003t0001g0366 a0001c0003t0001g0367 a0001c0003t0010g0047 a0001c0003t0014g0064 a0001c0016t0001g0062 a0001c0016t0001g0065 a0001c0029t0001g0033 a0012c0026t0001g0063 a0013c0027t0001g0042 a0018c0025t0001g0071	55	362	0.1519	37	c.315 others(54): Show c.315-3425_315-3424insAGGGTGGGGAGGAGTGGACGGCTCCCAG GGCGGACTC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79691806	G G	GGGGGAGG others(30): Show GGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03017.hp1 HG02738.hp2 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0283 a0002c0002t0001g0284	2	375	0.0053	37	c.315 others(54): Show c.315-3417_315-3416insGGAGGAGTGGACGGCTCCCAGGGTGGAC TCGGGGTGG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79691887	G G	GGAGTGGA others(30): Show GGAGTGGACGGCTCCCAGGGGGACTCGGGGTGGGAGAA	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0354 a0001c0007t0003g0354	1	355	0.0028	37	c.315 others(54): Show c.315-3319_315-3318insGGACTCGGGGTGGGAGAAGAGTGGACGG CTCCCAGGG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79740977	G G	GTGAGGTC others(30): Show GTGAGGTCCCCCGTGCGGTTGATCTGTCCCTGAGTCCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02615.hp1 HG02723.hp2 HG01106.hp1 HG02615.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0007 a0001c0021t0007 a0001c0001t0007 a0001c0021t0007	a0001c0001t0007g0336 a0001c0001t0007g0338 a0001c0021t0007g0337 a0001c0001t0007g0336 a0001c0001t0007g0338 a0001c0021t0007g0337	3	375	0.0080	37	c.274 others(56): Show c.2747+4507_2747+4543dupGCGGTTGATCTGTCCCTGAGTCCCTG AGGTCCCCCGT	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTNNA1_chr5_138748425_138940034	138916177	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA19076.hp1 NA18986.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0179 a0001c0001t0001g0087 a0001c0001t0001g0179	2	84	0.0238	37	c.139 others(56): Show c.1390-1551_1390-1550insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr5	TogoVar

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