Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
CRPPA_chr7_16082525_16426538	16389928	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0027 a0001c0001t0077g0027	1	290	0.0035	25	c.535 others(44): Show c.535-13688_535-13687insATATTTTTTTTTTTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	2/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16389928	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	290	0.0035	25	c.535 others(44): Show c.535-13688_535-13687insATATATTTTTTTTTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	2/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16389928	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19001.hp2 NA19065.hp1 HG03139.hp2 NA19001.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0032 a0001c0001t0002 a0001c0001t0032	a0001c0001t0002g0159 a0001c0001t0032g0028 a0001c0001t0032g0029 a0001c0001t0002g0159 a0001c0001t0032g0028 a0001c0001t0032g0029	3	290	0.0103	25	c.535 others(44): Show c.535-13688_535-13687insATATATATTTTTTTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	2/9			chr7	TogoVar
CRTC1_chr19_18678680_18787333	18728815	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp2 HG01433.hp2 others(2): Show HG00438.hp1 HG00735.hp2 HG01433.hp2 HG02280.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0076 a0001c0001t0001g0096 a0001c0001t0001g0116 others(2): Show a0001c0001t0001g0076 a0001c0001t0001g0096 a0001c0001t0001g0116 a0001c0001t0001g0222 a0001c0001t0004g0018	5	274	0.0183	25	c.127 others(44): Show c.127-14080_127-14079insTTTTTTTTTTTTTTTTTTTTTTTTT	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRTC1_chr19_18678680_18787333	18786763	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	274	0.0037	25	c.93 others(36): Show c.9381_*9382insTTTTTTTTTTTTTTTTTTTTTTTTT	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding		4431		chr19	TogoVar
CRTC3_chr15_90524923_90650345	90647246	T T	TCTGCCAC others(18): Show TCTGCCACACCCCTACTCCTCCTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	276	0.0036	25	c.51 others(36): Show c.5106_*5107insCTGCCACACCCCTACTCCTCCTCAC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1902		chr15	TogoVar
CRYBB2_chr22_25214639_25236869	25218779	G G	GAGAGAGA others(18): Show GAGAGAGAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0120 a0002c0003t0001g0120	1	464	0.0022	25	c.-91 others(34): Show c.-914_-913insAGAGAGAGAAAGAAAGAAAGAAAGA	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		859		chr22	TogoVar
CRYBB2_chr22_25214639_25236869	25218779	G G	GAGAGAGA others(18): Show GAGAGAGAGAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	464	0.0022	25	c.-91 others(34): Show c.-914_-913insAGAGAGAGAGAAAGAAAGAAAGAAA	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		859		chr22	TogoVar
CRYBG3_chr3_97817011_97949984	97881823	C C	CCTATAAT others(18): Show CCTATAATAGTATACTATACACTATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02559.hp2 others(1): Show HG02145.hp1 HG02257.hp1 HG02559.hp2 NA18906.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0005 a0007c0009t0005	a0007c0009t0005g0035 a0007c0009t0005g0254 a0007c0009t0005g0255 a0007c0009t0005g0035 a0007c0009t0005g0254 a0007c0009t0005g0255	4	316	0.0127	25	c.715 others(42): Show c.7152+621_7152+645dupTACACTATACTATAATAGTATACTA	CRYBG3	ENSG00000080200.10	transcript	ENST00000389622.7	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
CRYGN_chr7_151423832_151445141	151428290	C C	CTTCTTTT others(18): Show CTTCTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00609.hp2 HG00673.hp1 others(20): Show HG00099.hp2 HG00609.hp2 HG00673.hp1 HG01123.hp1 HG02015.hp1 HG02040.hp1 HG02258.hp1 HG02523.hp2 NA18612.hp1 NA18944.hp1 NA18944.hp2 NA18953.hp1 NA18966.hp1 NA18983.hp1 NA18997.hp1 NA19011.hp2 NA19055.hp2 NA19070.hp1 NA19082.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0013	a0001c0001t0001g0001 a0001c0001t0003g0005 a0001c0001t0004g0009 others(4): Show a0001c0001t0001g0001 a0001c0001t0003g0005 a0001c0001t0004g0009 a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0094 a0001c0002t0013g0027	23	452	0.0509	25	c.17 others(36): Show c.1757_*1758insAAAAAAAAAAAAAAAAAAAAAAGAA	CRYGN	ENSG00000127377.10	transcript	ENST00000337323.3	protein_coding		541		chr7	TogoVar
CRYL1_chr13_20398669_20530857	20485685	T T	TAGAAAAG others(18): Show TAGAAAAGAAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01261.hp2 HG01952.hp1 others(3): Show HG00735.hp2 HG01261.hp2 HG01952.hp1 HG02257.hp2 HG02622.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0156 a0001c0001t0001g0201 a0001c0002t0001g0189 others(3): Show a0001c0001t0001g0156 a0001c0001t0001g0201 a0001c0002t0001g0189 a0001c0002t0002g0122 a0001c0002t0002g0176 a0001c0004t0001g0016	6	250	0.0240	25	c.276 others(42): Show c.276+3660_276+3684dupTTTCTTTTCTTTTCTTTTCTTTTCT	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	3/7			chr13	TogoVar
CRYZL1_chr21_33584341_33646741	33605530	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03239.hp1 HG03831.hp2 others(1): Show HG01952.hp2 HG03239.hp1 HG03831.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0274 a0001c0001t0001g0276 others(1): Show a0001c0001t0001g0174 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0288	4	360	0.0111	25	c.332 others(42): Show c.332-1994_332-1993insAAAAAAAAAAAAAAAAAAAAAAAAA	CRYZL1	ENSG00000205758.12	transcript	ENST00000381554.8	protein_coding	6/12			chr21	TogoVar
CSE1L_chr20_49041312_49101949	49047564	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0365 a0001c0002t0001g0365	1	386	0.0026	25	c.-12 others(42): Show c.-12+1145_-12+1169dupTTTTTTTTTTTTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSE1L_chr20_49041312_49101949	49065312	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	386	0.0026	25	c.229 others(40): Show c.229-880_229-879insTTTTTTTTTTTTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	3/24			chr20	TogoVar
CSE1L_chr20_49041312_49101949	49065313	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA20805.hp2 NA18968.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0063 a0001c0001t0002g0020 a0001c0001t0002g0063	2	386	0.0052	25	c.229 others(40): Show c.229-876_229-852dupTTTTTTTTTTTTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSGALNACT1_chr8_19399161_19762277	19541553	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02074.hp2 HG02897.hp2 others(2): Show HG00597.hp1 HG02074.hp2 HG02897.hp2 NA18953.hp1 NA18959.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0019 a0001c0001 a0011c0019	a0001c0001t0001 a0001c0001t0010 a0011c0019t0009 a0001c0001t0001 a0001c0001t0010 a0011c0019t0009	a0001c0001t0001g0065 a0001c0001t0001g0141 a0001c0001t0001g0210 others(2): Show a0001c0001t0001g0065 a0001c0001t0001g0141 a0001c0001t0001g0210 a0001c0001t0010g0122 a0011c0019t0009g0055	5	238	0.0210	25	c.-29 others(46): Show c.-296-35448_-296-35424dupAAAAAAAAAAAAAAAAAAAAAAAA A	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19599472	A A	AAAGAAAG others(18): Show AAAGAAAGAAAGAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0156 a0002c0008t0003g0156	1	238	0.0042	25	c.-29 others(44): Show c.-297+2298_-297+2299insCTTTCTTTCTTTTTCTTTCTTTCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19599512	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0104 a0002c0003t0004g0104	1	238	0.0042	25	c.-29 others(44): Show c.-297+2258_-297+2259insTCTTTCTTTCTTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19599527	A A	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0058 a0001c0001t0014g0058	1	238	0.0042	25	c.-29 others(44): Show c.-297+2243_-297+2244insCTTTCTTTCTTTCTTTCTTTCTTTC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666809	A A	AAGAAAGA others(18): Show AAGAAAGAAAGAAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0040 a0012c0021t0040	a0012c0021t0040g0178 a0012c0021t0040g0178	1	238	0.0042	25	c.-39 others(46): Show c.-391-64945_-391-64944insCTCTCTCTCTCTCTTCTTTCTTTC T	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSH1_chr17_63889918_63901574	63898111	T T	TTTCTTTC others(18): Show TTTCTTTCTTTCTTTCTTTCTTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	25	c.-16 others(36): Show c.-1601_-1600insGAGAAAGAAAGAAAGAAAGAAAGAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1538		chr17	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(18): Show TTTTTTTTTTTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0054 a0001c0005t0005g0054	1	394	0.0025	25	c.-66 others(42): Show c.-66+3294_-66+3295insTTTTTTTTTGTGTGTGTGTGTGTGT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(18): Show TTTTTTTTTTTTTTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0060 a0001c0005t0005g0060	1	394	0.0025	25	c.-66 others(42): Show c.-66+3294_-66+3295insTTTTTTTTTTTTTGTGTGTGTGTGT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSMD1_chr8_2930361_4999914	3155359	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0070 a0001c0005t0007g0070	1	126	0.0079	25	c.591 others(44): Show c.5914+2513_5914+2537dupAAAAAAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	39/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3384784	A A	ATATATAA others(18): Show ATATATAAATATATATTTATATAATT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0061 a0001c0061	a0001c0061t0001 a0001c0061t0001	a0001c0061t0001g0021 a0001c0061t0001g0021	1	126	0.0079	25	c.278 others(44): Show c.2782+2709_2782+2710insAATTATATAAATATATATTTATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	18/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439310	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0006 a0006	a0006c0116 a0006c0116	a0006c0116t0004 a0006c0116t0004	a0006c0116t0004g0039 a0006c0116t0004g0039	1	126	0.0079	25	c.156 others(46): Show c.1561+29401_1561+29402insTATATATATATATATATATATATA T	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3670578	G G	GATATATA others(18): Show GATATATATGGGGATATATATATTGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00735.hp1 others(10): Show HG00423.hp2 HG00438.hp2 HG00735.hp1 HG01071.hp1 HG02615.hp2 HG02683.hp1 HG02723.hp2 HG03209.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18979.hp2 NA19043.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0021 a0034	a0001c0001 a0001c0004 a0001c0020 others(10): Show a0001c0001 a0001c0004 a0001c0020 a0001c0021 a0001c0080 a0001c0081 a0001c0093 a0002c0012 a0002c0041 a0002c0089 a0005c0065 a0021c0016 a0034c0055	a0001c0001t0002 a0001c0004t0063 a0001c0020t0016 others(10): Show a0001c0001t0002 a0001c0004t0063 a0001c0020t0016 a0001c0021t0005 a0001c0080t0040 a0001c0081t0037 a0001c0093t0009 a0002c0012t0017 a0002c0041t0027 a0002c0089t0001 a0005c0065t0023 a0021c0016t0048 a0034c0055t0034	a0001c0001t0002g0125 a0001c0004t0063g0095 a0001c0020t0016g0065 others(10): Show a0001c0001t0002g0125 a0001c0004t0063g0095 a0001c0020t0016g0065 a0001c0021t0005g0012 a0001c0080t0040g0025 a0001c0081t0037g0030 a0001c0093t0009g0007 a0002c0012t0017g0088 a0002c0041t0027g0018 a0002c0089t0001g0037 a0005c0065t0023g0050 a0021c0016t0048g0106 a0034c0055t0034g0047	13	126	0.1032	25	c.100 others(46): Show c.1009+37811_1009+37835dupGCAATATATATATCCCCATATATA T	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4051873	C C	CTTTCTTT others(18): Show CTTTCTTTCTCTCCTTCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19043.hp1 HG02886.hp1 NA19043.hp1	a0001 a0001	a0001c0039 a0001c0093 a0001c0039 a0001c0093	a0001c0039t0066 a0001c0093t0009 a0001c0039t0066 a0001c0093t0009	a0001c0039t0066g0080 a0001c0093t0009g0007 a0001c0039t0066g0080 a0001c0093t0009g0007	2	126	0.0159	25	c.416 others(44): Show c.416-19775_416-19774insAGGAAGGAGGAAGGAGAGAAAGAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4258317	A A	AGAGGGAG others(18): Show AGAGGGAGAAAGAGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0051 a0002c0051	a0002c0051t0006 a0002c0051t0006	a0002c0051t0006g0081 a0002c0051t0006g0081	1	126	0.0079	25	c.415 others(46): Show c.415+161611_415+161635dupCCCTCCCTCCCTCTCTTTCTCCCT C	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4404753	C C	CTTAGTAT others(18): Show CTTAGTATTATTGTGAGTATTATTAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0115 a0001c0115	a0001c0115t0042 a0001c0115t0042	a0001c0115t0042g0055 a0001c0115t0042g0055	1	126	0.0079	25	c.415 others(44): Show c.415+15199_415+15200insTTAATAATACTCACAATAATACTAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4441095	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03669.hp1 HG04204.hp2 HG00735.hp2 HG03669.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0073 a0001c0001 a0001c0006 a0001c0073	a0001c0001t0002 a0001c0006t0002 a0001c0073t0007 a0001c0001t0002 a0001c0006t0002 a0001c0073t0007	a0001c0001t0002g0102 a0001c0006t0002g0109 a0001c0073t0007g0108 a0001c0001t0002g0102 a0001c0006t0002g0109 a0001c0073t0007g0108	3	126	0.0238	25	c.303 others(44): Show c.303-21031_303-21030insAAAAAAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4519742	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0018 a0018	a0018c0044 a0018c0044	a0018c0044t0064 a0018c0044t0064	a0018c0044t0064g0085 a0018c0044t0064g0085	1	126	0.0079	25	c.303 others(44): Show c.303-99702_303-99678dupTTTTTTTTTTTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4680066	G G	GACATTAA others(18): Show GACATTAACATGATTTAAATATATTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0083 a0001c0002t0002g0083	1	126	0.0079	25	c.86- others(42): Show c.86-42533_86-42509dupAAATATATTTAAATCATGTTAATGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4764880	A A	ACAAAACA others(18): Show ACAAAACAAAACAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0005 a0001c0002t0028g0005	1	126	0.0079	25	c.86- others(44): Show c.86-127323_86-127322insGTTTTTTTTTTTTTGTTTTGTTTTG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD2_chr1_33508998_34170230	34076928	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0012 a0012	a0012c0028 a0012c0028	a0012c0028t0007 a0012c0028t0007	a0012c0028t0007g0041 a0012c0028t0007g0041	1	66	0.0152	25	c.404 others(44): Show c.404+12048_404+12049insATATATATATTTTTTTTTTTTTTTT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	2/70			chr1	TogoVar
CSMD3_chr8_112217928_113441939	112270363	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTTAGGGGTGA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0012 a0001c0007t0001g0012	1	80	0.0125	25	c.950 others(44): Show c.9509-4774_9509-4773insTCACCCCTAACACACACACACACAC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	59/70			chr8	TogoVar
CSNK1G1_chr15_64160525_64361173	64229902	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	176	0.0057	25	c.293 others(44): Show c.293-13214_293-13190dupAAAAAAAAAAAAAAAAAAAAAAAAA	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64238518	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0035 a0001c0004t0035	a0001c0004t0035g0118 a0001c0004t0035g0118	1	176	0.0057	25	c.292 others(44): Show c.292+12993_292+12994insATATATATATATATATATTTTTTTT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64352447	C C	CTTCTTTT others(18): Show CTTCTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01261.hp1 HG01934.hp1 HG00323.hp2 HG01261.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0110 a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0001t0007g0110 a0001c0001t0007g0111 a0001c0001t0007g0112	3	176	0.0171	25	c.-22 others(44): Show c.-225+3540_-225+3541insAAAAAAAAAAAAAAAAAAAAAAGAA	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	1/11			chr15	TogoVar
CSNK1G2_chr19_1936172_1986338	1960709	A A	AAAACCTT others(18): Show AAAACCTTGTCTCTACCAGAAATATC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	382	0.0026	25	c.-26 others(44): Show c.-265-8795_-265-8771dupCCTTGTCTCTACCAGAAATATCAAA	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNK2A1_chr20_467498_548790	485105	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	316	0.0032	25	c.106 others(44): Show c.1061-1030_1061-1029insATATATATATATATATATATATATA	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0023 a0001c0001t0044g0023	1	316	0.0032	25	c.106 others(44): Show c.1061-1034_1061-1033insATATATATATATATATATATATATT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0236 a0001c0001t0004g0236	1	316	0.0032	25	c.106 others(44): Show c.1061-1034_1061-1033insATATATATATATATATATATATATA	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A2_chr16_58152907_58203106	58171980	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03098.hp1 HG02965.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0176 a0001c0001t0001g0151 a0001c0001t0001g0176	2	400	0.0050	25	c.429 others(42): Show c.429+2470_429+2471insTATATATATATATATATATATATAT	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11			chr16	TogoVar
CSNKA2IP_chr3_88333456_88472594	88457695	C C	CAAAATAA others(18): Show CAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG04228.hp2 NA18906.hp1 HG01168.hp2 HG04228.hp2 NA18906.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0001 a0004c0005t0001 a0002c0002t0001 a0004c0005t0001	a0002c0002t0001g0041 a0004c0005t0001g0111 a0004c0005t0001g0225 a0002c0002t0001g0041 a0004c0005t0001g0111 a0004c0005t0001g0225	3	386	0.0078	25	c.-27 others(44): Show c.-270-7357_-270-7333dupAAAATAAAATAAAATAAAATAAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSPP1_chr8_67059392_67201614	67159957	C C	CTTTCTTT others(18): Show CTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02293.hp1 NA19012.hp2 HG01952.hp1 HG02293.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0001g0079	3	158	0.0190	25	c.253 others(42): Show c.2538+874_2538+898dupCTTTTCTTTTCTTTTCTTTTCTTTT	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSRNP3_chr2_165464698_165694407	165662127	G G	GAAACAAA others(18): Show GAAACAAAATAAAGATGTTATTTTGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(115): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01978.hp1 HG01978.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02132.hp1 HG02148.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18942.hp1 NA18942.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18966.hp1 NA18966.hp2 NA18974.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18992.hp1 NA19000.hp2 NA19005.hp1 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19054.hp1 NA19075.hp1 NA19075.hp2 NA19080.hp2 NA19082.hp2 NA19087.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0008	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0007c0010 a0008c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(49): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0044 a0001c0001t0049 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0063 a0001c0001t0067 a0001c0001t0068 a0001c0001t0071 a0001c0001t0076 a0001c0001t0084 a0001c0001t0085 a0001c0001t0087 a0001c0001t0091 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0012 a0001c0002t0019 a0001c0002t0040 a0001c0002t0041 a0001c0002t0042 a0001c0002t0086 a0001c0002t0097 a0002c0003t0010 a0002c0003t0050 a0003c0005t0001 a0007c0010t0046 a0008c0006t0062	a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 others(115): Show a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0023 a0001c0001t0002g0047 a0001c0001t0002g0091 a0001c0001t0002g0113 a0001c0001t0002g0141 a0001c0001t0002g0168 a0001c0001t0002g0232 a0001c0001t0003g0002 a0001c0001t0003g0012 a0001c0001t0003g0165 a0001c0001t0003g0185 a0001c0001t0003g0217 a0001c0001t0003g0225 a0001c0001t0004g0025 a0001c0001t0007g0048 a0001c0001t0007g0059 a0001c0001t0007g0062 a0001c0001t0007g0203 a0001c0001t0007g0207 a0001c0001t0007g0239 a0001c0001t0009g0098 a0001c0001t0009g0169 a0001c0001t0009g0188 a0001c0001t0009g0231 a0001c0001t0011g0051 a0001c0001t0011g0064 a0001c0001t0011g0115 a0001c0001t0011g0154 a0001c0001t0013g0106 a0001c0001t0013g0109 a0001c0001t0013g0180 a0001c0001t0013g0200 a0001c0001t0013g0201 a0001c0001t0015g0026 a0001c0001t0015g0089 a0001c0001t0015g0219 a0001c0001t0015g0220 a0001c0001t0018g0061 a0001c0001t0018g0122 a0001c0001t0018g0210 a0001c0001t0020g0218 a0001c0001t0025g0215 a0001c0001t0028g0074 a0001c0001t0028g0208 a0001c0001t0029g0186 a0001c0001t0032g0192 a0001c0001t0033g0211 a0001c0001t0035g0181 a0001c0001t0036g0233 a0001c0001t0044g0009 a0001c0001t0049g0226 a0001c0001t0052g0010 a0001c0001t0053g0121 a0001c0001t0054g0021 a0001c0001t0055g0182 a0001c0001t0056g0183 a0001c0001t0058g0093 a0001c0001t0059g0031 a0001c0001t0061g0170 a0001c0001t0063g0124 a0001c0001t0067g0216 a0001c0001t0068g0179 a0001c0001t0071g0152 a0001c0001t0076g0063 a0001c0001t0084g0014 a0001c0001t0085g0137 a0001c0001t0087g0159 a0001c0001t0091g0119 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0015 a0001c0002t0001g0058 a0001c0002t0001g0086 a0001c0002t0001g0090 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0162 a0001c0002t0001g0205 a0001c0002t0001g0222 a0001c0002t0001g0224 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0234 a0001c0002t0005g0029 a0001c0002t0005g0068 a0001c0002t0005g0130 a0001c0002t0006g0038 a0001c0002t0006g0039 a0001c0002t0006g0040 a0001c0002t0006g0041 a0001c0002t0006g0070 a0001c0002t0006g0080 a0001c0002t0008g0032 a0001c0002t0008g0136 a0001c0002t0008g0163 a0001c0002t0008g0177 a0001c0002t0012g0202 a0001c0002t0019g0131 a0001c0002t0040g0142 a0001c0002t0041g0129 a0001c0002t0042g0246 a0001c0002t0086g0055 a0001c0002t0097g0196 a0002c0003t0010g0140 a0002c0003t0010g0193 a0002c0003t0050g0209 a0003c0005t0001g0123 a0007c0010t0046g0143 a0008c0006t0062g0107	118	246	0.4797	25	c.408 others(42): Show c.408+4145_408+4169dupGATGTTATTTTGAAAACAAAATAAA	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSRNP3_chr2_165464698_165694407	165666542	A A	AAAGAGAG others(18): Show AAAGAGAGAGGAAAACAGAAAGAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(134): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00639.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02258.hp2 HG02280.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18974.hp1 NA18974.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18992.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19075.hp1 NA19075.hp2 NA19080.hp2 NA19082.hp1 NA19085.hp2 NA19087.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0008	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0007c0010 a0008c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(56): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0036 a0001c0001t0044 a0001c0001t0049 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0063 a0001c0001t0065 a0001c0001t0068 a0001c0001t0069 a0001c0001t0071 a0001c0001t0076 a0001c0001t0084 a0001c0001t0085 a0001c0001t0087 a0001c0001t0091 a0001c0001t0092 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0012 a0001c0002t0019 a0001c0002t0021 a0001c0002t0031 a0001c0002t0038 a0001c0002t0039 a0001c0002t0040 a0001c0002t0042 a0001c0002t0045 a0002c0003t0005 a0002c0003t0010 a0002c0003t0050 a0003c0005t0001 a0007c0010t0046 a0008c0006t0062	a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 others(134): Show a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0023 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0091 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0134 a0001c0001t0002g0141 a0001c0001t0002g0168 a0001c0001t0002g0232 a0001c0001t0003g0002 a0001c0001t0003g0012 a0001c0001t0003g0165 a0001c0001t0003g0184 a0001c0001t0003g0225 a0001c0001t0004g0025 a0001c0001t0007g0048 a0001c0001t0007g0059 a0001c0001t0007g0062 a0001c0001t0007g0203 a0001c0001t0007g0207 a0001c0001t0007g0239 a0001c0001t0009g0098 a0001c0001t0009g0169 a0001c0001t0009g0188 a0001c0001t0009g0231 a0001c0001t0011g0115 a0001c0001t0011g0139 a0001c0001t0011g0154 a0001c0001t0013g0106 a0001c0001t0013g0109 a0001c0001t0013g0180 a0001c0001t0013g0200 a0001c0001t0013g0201 a0001c0001t0015g0026 a0001c0001t0015g0089 a0001c0001t0015g0219 a0001c0001t0015g0220 a0001c0001t0018g0061 a0001c0001t0018g0210 a0001c0001t0020g0218 a0001c0001t0023g0138 a0001c0001t0025g0215 a0001c0001t0028g0074 a0001c0001t0028g0208 a0001c0001t0029g0186 a0001c0001t0032g0192 a0001c0001t0033g0211 a0001c0001t0036g0233 a0001c0001t0044g0009 a0001c0001t0049g0226 a0001c0001t0052g0010 a0001c0001t0053g0121 a0001c0001t0054g0021 a0001c0001t0055g0182 a0001c0001t0056g0183 a0001c0001t0057g0028 a0001c0001t0058g0093 a0001c0001t0059g0031 a0001c0001t0060g0004 a0001c0001t0061g0170 a0001c0001t0063g0124 a0001c0001t0065g0013 a0001c0001t0068g0179 a0001c0001t0069g0035 a0001c0001t0071g0152 a0001c0001t0076g0063 a0001c0001t0084g0014 a0001c0001t0085g0137 a0001c0001t0087g0159 a0001c0001t0091g0119 a0001c0001t0092g0066 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0015 a0001c0002t0001g0024 a0001c0002t0001g0058 a0001c0002t0001g0073 a0001c0002t0001g0086 a0001c0002t0001g0090 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0127 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0178 a0001c0002t0001g0222 a0001c0002t0001g0224 a0001c0002t0001g0229 a0001c0002t0001g0234 a0001c0002t0005g0027 a0001c0002t0005g0029 a0001c0002t0005g0030 a0001c0002t0005g0036 a0001c0002t0005g0042 a0001c0002t0005g0130 a0001c0002t0006g0038 a0001c0002t0006g0039 a0001c0002t0006g0040 a0001c0002t0006g0041 a0001c0002t0006g0070 a0001c0002t0006g0077 a0001c0002t0006g0080 a0001c0002t0006g0104 a0001c0002t0008g0032 a0001c0002t0008g0044 a0001c0002t0008g0136 a0001c0002t0008g0163 a0001c0002t0008g0177 a0001c0002t0012g0071 a0001c0002t0012g0079 a0001c0002t0012g0100 a0001c0002t0012g0160 a0001c0002t0012g0202 a0001c0002t0019g0018 a0001c0002t0019g0131 a0001c0002t0021g0076 a0001c0002t0031g0223 a0001c0002t0038g0060 a0001c0002t0039g0037 a0001c0002t0040g0142 a0001c0002t0042g0246 a0001c0002t0045g0043 a0002c0003t0005g0108 a0002c0003t0010g0067 a0002c0003t0010g0140 a0002c0003t0010g0193 a0002c0003t0050g0209 a0003c0005t0001g0123 a0007c0010t0046g0143 a0008c0006t0062g0107	137	246	0.5569	25	c.408 others(42): Show c.408+8523_408+8524insAGAGAGAGGAAAACAGAAAGAGAGA	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSTF1_chr20_56387645_56411362	56389784	A A	AAGCCTTG others(18): Show AAGCCTTGGCATAATAACCCTTTACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	25	c.-29 others(36): Show c.-2962_-2961insAGCCTTGGCATAATAACCCTTTACG	CSTF1	ENSG00000101138.12	transcript	ENST00000217109.9	protein_coding		2860		chr20	TogoVar
CSTF1_chr20_56387645_56411362	56404812	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03491.hp1 NA19000.hp2 HG03491.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0082 a0001c0001t0048 a0001c0001t0082	a0001c0001t0048g0001 a0001c0001t0082g0001 a0001c0001t0048g0001 a0001c0001t0082g0001	2	422	0.0047	25	c.10 others(36): Show c.1087_*1111dupTTTTTTTTTTTTTTTTTTTTTTTTT	CSTF1	ENSG00000101138.12	transcript	ENST00000217109.9	protein_coding	6/6	1112	INFO_REALIGN_3_PRIME	chr20	TogoVar

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