Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CDK13_chr7_39945256_40104580	39976323	T T	TCTCTCTC others(23): Show TCTCTCTCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0005 a0001c0001t0008g0005	1	322	0.0031	30	c.121 others(51): Show c.1212-11275_1212-11274insTCTCTCACACACACACACACACAC ACACAC	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK13_chr7_39945256_40104580	39976323	T T	TCTCTCTC others(23): Show TCTCTCTCTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0007	1	322	0.0031	30	c.121 others(51): Show c.1212-11275_1212-11274insTCTCTCTCACACACACACACACAC ACACAC	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK13_chr7_39945256_40104580	39976323	T T	TCTCTCTC others(23): Show TCTCTCTCTCTCTCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0013 a0001c0001t0006g0013	1	322	0.0031	30	c.121 others(51): Show c.1212-11275_1212-11274insTCTCTCTCTCTCACACACACACAC ACACAC	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK13_chr7_39945256_40104580	39976323	T T	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCACACACACA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	322	0.0031	30	c.121 others(51): Show c.1212-11275_1212-11274insTCTCTCTCTCTCTCTCTCTCACAC ACACAC	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK13_chr7_39945256_40104580	39976323	T T	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCTCTCACACA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	322	0.0031	30	c.121 others(51): Show c.1212-11275_1212-11274insTCTCTCTCTCTCTCTCTCTCTCTC ACACAC	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK13_chr7_39945256_40104580	39976323	T T	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCACA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19055.hp1 NA18942.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0132 a0001c0001t0003g0100 a0001c0001t0003g0132	2	322	0.0062	30	c.121 others(51): Show c.1212-11275_1212-11274insTCTCTCTCTCTCTCTCTCTCTCTC TCACAC	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK13_chr7_39945256_40104580	39976323	T T	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0118	1	322	0.0031	30	c.121 others(51): Show c.1212-11275_1212-11274insTCTCTCTCTCTCTCTCTCTCTCTC TCTCAC	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	90895374	C C	CCCTCCCC others(23): Show CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0039 a0001c0001t0005g0039	1	168	0.0060	30	c.640 others(47): Show c.640-3913_640-3912insCCCTCCCCTCCCCTCCCCTCCCCTCTCC TC	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	90895504	T T	TCCTCCCT others(23): Show TCCTCCCTTCCCCTCCCTTCCCCTCCCTTCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0040 a0001c0001t0006g0040	1	168	0.0060	30	c.640 others(47): Show c.640-3770_640-3741dupTTCCCCTCCCTTCCCCTCCCTTCCCCTC CC	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	90981803	G G	GAAACAAA others(23): Show GAAACAAAACAAAACAAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02257.hp1 HG02258.hp2 others(4): Show HG02132.hp1 HG02257.hp1 HG02258.hp2 HG03486.hp1 HG03834.hp1 NA18957.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0002t0021	a0001c0001t0001g0050 a0001c0001t0002g0082 a0001c0001t0003g0051 others(4): Show a0001c0001t0001g0050 a0001c0001t0002g0082 a0001c0001t0003g0051 a0001c0001t0004g0084 a0001c0001t0006g0107 a0001c0002t0001g0024 a0001c0002t0021g0108	7	168	0.0417	30	c.948 others(47): Show c.948-2344_948-2315dupAAACAAAACAAAACAAAACAAAACAAAA CA	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	91091501	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	168	0.0060	30	c.115 others(51): Show c.1154+12037_1154+12038insTATATATATATATATATATATATA TATATA	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	91211567	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0080 a0001c0001t0005g0080	1	168	0.0060	30	c.44 others(41): Show c.4431_*4432insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding		978		chr7	TogoVar
CDK15_chr2_201801537_201900550	201857232	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18978.hp1 NA18984.hp2 others(1): Show NA18952.hp1 NA18978.hp1 NA18984.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0001c0001t0001 a0001c0001t0004 a0001c0001t0016	a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0004g0284 others(1): Show a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0004g0284 a0001c0001t0016g0153	4	322	0.0124	30	c.100 others(49): Show c.1009+2311_1009+2312insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CDK15	ENSG00000138395.17	transcript	ENST00000652192.3	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
CDK18_chr1_205499669_205537790	205532933	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0294 a0001c0001t0003g0294	1	388	0.0026	30	c.15 others(41): Show c.1555_*1556insTATATATATATATATATATATATATATATA	CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding		144		chr1	TogoVar
CDK18_chr1_205499669_205537790	205532937	G G	GTGTGTAT others(23): Show GTGTGTATGTGTGTGTGTGTGTGTGTGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0106 a0001c0001t0018g0106	1	388	0.0026	30	c.15 others(41): Show c.1559_*1560insTGTGTATGTGTGTGTGTGTGTGTGTGTATA	CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding		148		chr1	TogoVar
CDK18_chr1_205499669_205537790	205532937	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0151 a0002c0002t0008g0151	1	388	0.0026	30	c.15 others(41): Show c.1559_*1560insTGTGTGTGTGTGTATATATATATATATATA	CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding		148		chr1	TogoVar
CDK18_chr1_205499669_205537790	205532937	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0153 a0001c0001t0010g0153	1	388	0.0026	30	c.15 others(41): Show c.1559_*1560insTGTGTGTGTGTGTGTGTATATATATATATA	CDK18	ENSG00000117266.16	transcript	ENST00000429964.7	protein_coding		148		chr1	TogoVar
CDK19_chr6_110604978_110820469	110734520	G G	GCTCGCTC others(23): Show GCTCGCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	300	0.0033	30	c.204 others(49): Show c.204+11605_204+11606insAGAGAGAGAGAGAGAGAGAGAGAGAG CGAG	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	2/12			chr6	TogoVar
CDK19_chr6_110604978_110820469	110734520	G G	GCTCTCTC others(23): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp2 HG02896.hp1 others(3): Show HG00741.hp1 HG01081.hp2 HG02896.hp1 HG03139.hp1 HG03710.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0041	a0001c0001t0002g0060 a0001c0001t0002g0104 a0001c0001t0002g0106 others(3): Show a0001c0001t0002g0060 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0004g0092 a0001c0001t0005g0003 a0001c0001t0041g0300	6	300	0.0200	30	c.204 others(49): Show c.204+11576_204+11605dupAGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	2/12			chr6	TogoVar
CDK5R2_chr2_218954666_218967155	218962924	T T	TTCAACAG others(23): Show TTCAACAGAGTGCCCGCGGCTCCGACCCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	388	0.0026	30	c.20 others(41): Show c.2000_*2001insTCAACAGAGTGCCCGCGGCTCCGACCCTAG	CDK5R2	ENSG00000171450.6	transcript	ENST00000302625.6	protein_coding		770		chr2	TogoVar
CDK5R2_chr2_218954666_218967155	218966479	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	388	0.0026	30	c.55 others(41): Show c.5555_*5556insAAAAAAAAAAAAAAAAATATATATATGTAT	CDK5R2	ENSG00000171450.6	transcript	ENST00000302625.6	protein_coding		4325		chr2	TogoVar
CDK5R2_chr2_218954666_218967155	218966479	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	388	0.0026	30	c.55 others(41): Show c.5555_*5556insAAAAAAATATATATATATATATATATATAT	CDK5R2	ENSG00000171450.6	transcript	ENST00000302625.6	protein_coding		4325		chr2	TogoVar
CDK5R2_chr2_218954666_218967155	218966503	T T	TATATATA others(23): Show TATATATATATATATATATACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 NA18991.hp2 HG01433.hp1 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	2	388	0.0052	30	c.55 others(41): Show c.5579_*5580insATATATATATATATATATACACACACACAC	CDK5R2	ENSG00000171450.6	transcript	ENST00000302625.6	protein_coding		4349		chr2	TogoVar
CDK6_chr7_92599921_92841573	92778946	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18950.hp2 NA20905.hp2 HG03225.hp1 NA18950.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0035 a0001c0001t0002 a0001c0001t0004 a0001c0001t0035	a0001c0001t0002g0118 a0001c0001t0004g0045 a0001c0001t0035g0040 a0001c0001t0002g0118 a0001c0001t0004g0045 a0001c0001t0035g0040	3	124	0.0242	30	c.234 others(47): Show c.234-4116_234-4115insTTATATATATATATATATATATATATAT AT	CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding	2/7			chr7	TogoVar
CDK6_chr7_92599921_92841573	92840593	A A	AGGCAACC others(23): Show AGGCAACCCGATTCTTTCAGGATGAATGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0092 a0001c0001t0031g0092	1	124	0.0081	30	c.-44 others(41): Show c.-4484_-4483insGGCCATTCATCCTGAAAGAATCGGGTTGCC	CDK6	ENSG00000105810.10	transcript	ENST00000424848.3	protein_coding		4021		chr7	TogoVar
CDKAL1_chr6_20529457_21237404	20600771	C C	CATATATA others(23): Show CATATATATATATATATATATACACATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01943.hp1 HG02055.hp1 others(9): Show HG01192.hp2 HG01943.hp1 HG02055.hp1 HG02257.hp1 HG02559.hp1 HG02630.hp1 HG02723.hp1 HG02897.hp2 HG03453.hp1 HG03471.hp2 HG03579.hp1 NA18978.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0004c0016	a0001c0001t0001 a0001c0001t0015 a0001c0001t0027 others(8): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0027 a0001c0001t0032 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0043 a0001c0008t0011 a0001c0010t0017 a0004c0016t0001	a0001c0001t0001g0188 a0001c0001t0015g0186 a0001c0001t0015g0191 others(9): Show a0001c0001t0001g0188 a0001c0001t0015g0186 a0001c0001t0015g0191 a0001c0001t0027g0180 a0001c0001t0032g0196 a0001c0002t0002g0195 a0001c0002t0003g0184 a0001c0002t0007g0187 a0001c0002t0043g0190 a0001c0008t0011g0181 a0001c0010t0017g0194 a0004c0016t0001g0185	12	196	0.0612	30	c.287 others(49): Show c.287-48505_287-48504insTATACACATATATATATATATATATA TATA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20600771	C C	CATATATA others(23): Show CATATATATATATATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19007.hp1 HG00621.hp2 NA19007.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0002c0003t0005 a0001c0002t0003 a0002c0003t0005	a0001c0002t0003g0032 a0002c0003t0005g0081 a0001c0002t0003g0032 a0002c0003t0005g0081	2	196	0.0102	30	c.287 others(49): Show c.287-48505_287-48504insTATATACATATATATATATATATATA TATA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20600771	C C	CATATATA others(23): Show CATATATATATATATATATATATATACATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02300.hp1 HG02300.hp2 HG01106.hp2 HG02300.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0001t0010 a0001c0006t0009 a0001c0001t0003 a0001c0001t0010 a0001c0006t0009	a0001c0001t0003g0149 a0001c0001t0010g0051 a0001c0006t0009g0078 a0001c0001t0003g0149 a0001c0001t0010g0051 a0001c0006t0009g0078	3	196	0.0153	30	c.287 others(49): Show c.287-48505_287-48504insTATATATACATATATATATATATATA TATA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20797760	C C	CTTTATTT others(23): Show CTTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp1 HG03516.hp1 HG02922.hp2 HG03139.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0011 a0001c0001 a0001c0008 a0001c0011	a0001c0001t0021 a0001c0008t0004 a0001c0011t0004 a0001c0001t0021 a0001c0008t0004 a0001c0011t0004	a0001c0001t0021g0177 a0001c0008t0004g0105 a0001c0011t0004g0130 a0001c0001t0021g0177 a0001c0008t0004g0105 a0001c0011t0004g0130	3	196	0.0153	30	c.638 others(49): Show c.638+16534_638+16563dupATTTTATTTTATTTTATTTTATTTTA TTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003343	A A	AATATATA others(23): Show AATATATATATATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0015 a0001c0004t0007g0015	1	196	0.0051	30	c.105 others(49): Show c.1055+2986_1055+2987insCATATATATATATATATATATATATA TATA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	21003371	T T	TATATATA others(23): Show TATATATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 NA19043.hp2 HG01256.hp1 HG01258.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0082 a0001c0001t0009g0087 a0001c0001t0009g0089 a0001c0001t0003g0082 a0001c0001t0009g0087 a0001c0001t0009g0089	3	196	0.0153	30	c.105 others(49): Show c.1055+3000_1055+3001insTATATACACACACACACACACACACA CACA	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKL5_chrX_18420608_18645196	18509197	G G	GCACGCGC others(23): Show GCACGCGCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0171 a0001c0001t0004g0171	1	192	0.0052	30	c.65- others(45): Show c.65-1620_65-1619insGCGCGCGCGCACACACACACACACACACAC	CDKL5	ENSG00000008086.13	transcript	ENST00000623535.2	protein_coding	2/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
CDKN2AIP_chr4_183439636_183454064	183442071	T T	TACACACA others(23): Show TACACACACACATATGTATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG02165.hp1 HG02165.hp2 others(18): Show HG00609.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG03688.hp2 HG04204.hp2 HG06807.hp2 NA18945.hp1 NA18947.hp1 NA18953.hp2 NA18959.hp2 NA18960.hp2 NA18966.hp2 NA18969.hp1 NA18977.hp2 NA18987.hp2 NA19004.hp2 NA19056.hp1 NA19067.hp1 NA19068.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0003t0002g0001 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0003t0002g0001	21	470	0.0447	30	c.-27 others(41): Show c.-2727_-2726insACACACACACATATGTATATATATATATAC	CDKN2AIP	ENSG00000168564.6	transcript	ENST00000504169.2	protein_coding		2564		chr4	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02572.hp1 HG04184.hp2 others(3): Show HG02165.hp1 HG02572.hp1 HG04184.hp2 NA18957.hp2 NA18964.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0029 a0001c0001t0001g0065 a0001c0001t0001g0066 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0002g0092	6	416	0.0144	30	c.151 others(45): Show c.151-368_151-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02572.hp1 HG04184.hp2 others(3): Show HG02165.hp1 HG02572.hp1 HG04184.hp2 NA18957.hp2 NA18964.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0124 a0001c0001t0001g0189 a0001c0001t0001g0243 others(3): Show a0001c0001t0001g0124 a0001c0001t0001g0189 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0361 a0001c0001t0002g0320	6	404	0.0149	30	c.194 others(45): Show c.194-368_194-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21981108	A A	ATATATAT others(23): Show ATATATATATACGTGTATATATATATACGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0376 a0001c0001t0001g0376	1	404	0.0025	30	c.194 others(47): Show c.194-9901_194-9900insCACGTATATATATATACACGTATATATA TA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21990611	T T	TGAGAGAG others(23): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01255.hp2 HG01884.hp1 others(18): Show HG00408.hp2 HG01255.hp2 HG01884.hp1 HG01943.hp1 HG02055.hp1 HG02071.hp2 HG02572.hp1 HG02818.hp1 HG02895.hp2 HG03139.hp2 HG04184.hp1 NA18943.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18984.hp2 NA18988.hp2 NA18999.hp1 NA18999.hp2 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0097 others(18): Show a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0097 a0001c0001t0001g0113 a0001c0001t0001g0126 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0204 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0271 a0001c0001t0001g0336 a0001c0001t0001g0385 a0001c0001t0002g0320 a0001c0001t0005g0318 a0001c0001t0005g0319	21	404	0.0520	30	c.193 others(47): Show c.193+3498_193+3527dupTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN2D_chr19_10561460_10573979	10570547	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 NA19082.hp1 HG00673.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	410	0.0049	30	c.-18 others(41): Show c.-1895_-1894insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CDKN2D	ENSG00000129355.7	transcript	ENST00000393599.3	protein_coding		1569		chr19	TogoVar
CDKN3_chr14_54392007_54425218	54414999	C C	CTACAATA others(23): Show CTACAATACAATACAATACAATACAATACAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	420	0.0024	30	c.417 others(45): Show c.417-876_417-875insATACAATACAATACAATACAATACAATACA	CDKN3	ENSG00000100526.21	transcript	ENST00000335183.11	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
CDYL2_chr16_80592907_80809598	80672535	A A	AAAAGGAA others(23): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0013 a0001c0009t0007g0013	1	258	0.0039	30	c.616 others(49): Show c.616+11973_616+12002dupCCTTTCCTTTCCTTTCCTTTCCTTTC CTTT	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	2/6			chr16	TogoVar
CDYL_chr6_4771404_4960544	4895245	G G	GTGTATAT others(23): Show GTGTATATATGTGTATGTATACATATGTGTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0240 a0001c0001t0005g0240	1	250	0.0040	30	c.691 others(47): Show c.691+2878_691+2879insTATGTATACATATGTGTATGTATATATG TG	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4895248	T T	TATGTATA others(23): Show TATGTATATATGCGCATATATACATACATGC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	250	0.0040	30	c.691 others(47): Show c.691+2871_691+2872insGTATATATGCGCATATATACATACATGC AT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4900779	G G	GTGTATGT others(23): Show GTGTATGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0227 a0001c0003t0001g0227	1	250	0.0040	30	c.691 others(47): Show c.691+8401_691+8402insGTATGTATATATATATATATATATATAT AT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4900779	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	250	0.0040	30	c.691 others(47): Show c.691+8401_691+8402insGTGTGTATATATATATATATATATATAT AT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4900779	G G	GTGTGTGT others(23): Show GTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0088 a0001c0007t0003g0088	1	250	0.0040	30	c.691 others(47): Show c.691+8401_691+8402insGTGTGTGTATATATATATATATATATAT AT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEACAM19_chr19_44666482_44689355	44667953	T T	TATAATAT others(23): Show TATAATATATAAAATATATATAAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02622.hp1 HG02630.hp2 HG02258.hp2 HG02622.hp1 HG02630.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0022 a0001c0004t0001g0022	3	390	0.0077	30	c.-39 others(41): Show c.-3979_-3978insATAATATATAAAATATATATAAATTATATA	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		3528		chr19	TogoVar
CEACAM1_chr19_42502306_42533481	42513893	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0131 a0002c0003t0004g0131	1	290	0.0035	30	c.124 others(49): Show c.1247-1415_1247-1414insATATATATATATATATATATATATAT ATAT	CEACAM1	ENSG00000079385.23	transcript	ENST00000161559.11	protein_coding	5/8			chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44528158	T T	TTTTCTTT others(23): Show TTTTCTTTCTTTCTTTCCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02717.hp2 HG03453.hp1 others(1): Show HG02451.hp1 HG02717.hp2 HG03453.hp1 NA18906.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0389 a0006c0009t0001g0390 a0006c0009t0001g0391 others(1): Show a0006c0009t0001g0389 a0006c0009t0001g0390 a0006c0009t0001g0391 a0006c0009t0001g0392	4	438	0.0091	30	c.52+ others(45): Show c.52+1299_52+1300insGGAAAGAAAGAAAGGAAAGAAAGAAAGAAA	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	1/11			chr19	TogoVar
CECR2_chr22_17364460_17563151	17376401	T T	TTGGTGTA others(23): Show TTGGTGTATTAGGAAAGCCTTGGTGTATTAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG00735.hp1 others(30): Show HG00099.hp1 HG00597.hp2 HG00735.hp1 HG00741.hp1 HG01346.hp2 HG01884.hp2 HG02071.hp1 HG02109.hp1 HG02257.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02970.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03927.hp1 NA18950.hp1 NA18970.hp1 NA18994.hp1 NA19043.hp1 NA19060.hp1 NA19062.hp1 NA19083.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0016	a0001c0001 a0001c0009 a0002c0002 others(2): Show a0001c0001 a0001c0009 a0002c0002 a0004c0004 a0016c0024	a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 others(25): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0035 a0001c0001t0037 a0001c0001t0040 a0001c0001t0042 a0001c0001t0045 a0001c0001t0046 a0001c0001t0052 a0001c0009t0075 a0002c0002t0006 a0002c0002t0008 a0002c0002t0021 a0002c0002t0054 a0002c0002t0055 a0004c0004t0006 a0004c0004t0017 a0004c0004t0026 a0004c0004t0033 a0016c0024t0070	a0001c0001t0006g0311 a0001c0001t0008g0304 a0001c0001t0008g0308 others(30): Show a0001c0001t0006g0311 a0001c0001t0008g0304 a0001c0001t0008g0308 a0001c0001t0008g0316 a0001c0001t0010g0314 a0001c0001t0017g0312 a0001c0001t0018g0307 a0001c0001t0018g0310 a0001c0001t0021g0317 a0001c0001t0022g0309 a0001c0001t0023g0300 a0001c0001t0024g0301 a0001c0001t0028g0196 a0001c0001t0035g0324 a0001c0001t0037g0294 a0001c0001t0040g0283 a0001c0001t0042g0322 a0001c0001t0045g0321 a0001c0001t0046g0009 a0001c0001t0052g0315 a0001c0009t0075g0195 a0002c0002t0006g0302 a0002c0002t0006g0303 a0002c0002t0006g0320 a0002c0002t0008g0305 a0002c0002t0021g0323 a0002c0002t0054g0306 a0002c0002t0055g0039 a0004c0004t0006g0268 a0004c0004t0017g0313 a0004c0004t0026g0267 a0004c0004t0033g0282 a0016c0024t0070g0194	33	324	0.1019	30	c.126 others(47): Show c.126+6492_126+6493insTGGTGTATTAGGAAAGCCTTGGTGTATT AG	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18			chr22	TogoVar
CELF1_chr11_47460937_47558132	47489935	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	340	0.0029	30	c.72- others(43): Show c.72-912_72-911insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	3/14			chr11	TogoVar

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