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
CHD6_chr20_41397083_41623377	41498811	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03239.hp1 HG06807.hp2 HG02698.hp1 HG03239.hp1 HG06807.hp2	a0004 a0004	a0004c0013 a0004c0026 a0004c0013 a0004c0026	a0004c0013t0001 a0004c0026t0001 a0004c0013t0001 a0004c0026t0001	a0004c0013t0001g0001 a0004c0013t0001g0002 a0004c0026t0001g0003 a0004c0013t0001g0001 a0004c0013t0001g0002 a0004c0026t0001g0003	3	324	0.0093	-22	c.915 others(37): Show c.915+462_915+483delCACACACACACACACACACACA	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	6/36			chr20	TogoVar
CHD9_chr16_53049991_53332497	53070512	CCTTCCTT others(15): Show CCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02630.hp1 others(2): Show HG01167.hp1 HG01169.hp2 HG02630.hp1 HG06807.hp1 NA18999.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0020 a0001c0003t0002 a0002c0002t0001 others(2): Show a0001c0001t0020 a0001c0003t0002 a0002c0002t0001 a0002c0002t0014 a0003c0004t0006	a0001c0001t0020g0101 a0001c0003t0002g0170 a0002c0002t0001g0012 others(2): Show a0001c0001t0020g0101 a0001c0003t0002g0170 a0002c0002t0001g0012 a0002c0002t0014g0011 a0003c0004t0006g0190	5	238	0.0210	-22	c.-16 others(43): Show c.-165+15438_-165+15459delTCCTTCCTTCCTTCCTTCCTCT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53171839	CACACACA others(15): Show CACACACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01884.hp2 NA19043.hp2 HG01167.hp2 HG01884.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0012 a0001c0005t0004 a0001c0005t0012	a0001c0005t0004g0078 a0001c0005t0004g0104 a0001c0005t0012g0229 a0001c0005t0004g0078 a0001c0005t0004g0104 a0001c0005t0012g0229	3	238	0.0126	-22	c.145 others(43): Show c.1452+14320_1452+14341delGACACACACACACACACACACA	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	2/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHGB_chr20_5906510_5930353	5926060	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0160 a0004c0004t0001g0160	1	440	0.0023	-22	c.10 others(33): Show c.1012_*1033delAAAAAAAAATATATATATATAT	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding		708		chr20	TogoVar
CHGB_chr20_5906510_5930353	5926064	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0004 a0007c0007t0004	a0007c0007t0004g0144 a0007c0007t0004g0144	1	440	0.0023	-22	c.10 others(33): Show c.1016_*1037delAAAAATATATATATATATATAT	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding		712		chr20	TogoVar
CHGB_chr20_5906510_5930353	5926080	TATATATA others(15): Show TATATATATATATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0011 a0006c0006t0002g0011	1	440	0.0023	-22	c.10 others(33): Show c.1032_*1053delATATATATATATATATATATAC	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding		728		chr20	TogoVar
CHGB_chr20_5906510_5930353	5926104	TATATATA others(15): Show TATATATATATATATATATAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0008 a0006c0006t0002g0008	1	440	0.0023	-22	c.10 others(33): Show c.1056_*1077delATATATATATATATATATAGAG	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding		752		chr20	TogoVar
CHID1_chr11_862859_915810	882900	CCAGCCTC others(15): Show CCAGCCTCACGCAGATGTGGGGA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02451.hp2 others(5): Show HG02109.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02723.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0007 a0001c0001t0001g0104 a0001c0001t0001g0105 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0017g0186	8	386	0.0207	-22	c.959 others(37): Show c.959+226_959+247delTCCCCACATCTGCGTGAGGCTG	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	10/12			chr11	TogoVar
CHN1_chr2_174793809_175010381	174807446	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18951.hp2 HG02055.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0233 a0001c0001t0001g0065 a0001c0001t0001g0233	2	276	0.0073	-22	c.110 others(41): Show c.1102+1437_1102+1458delCACACACACACACACACACACA	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	11/12			chr2	TogoVar
CHN2_chr7_29189775_29519328	29273343	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0114 a0001c0005t0005g0114	1	232	0.0043	-22	c.49+ others(39): Show c.49+78378_49+78399delTATATATATATATATATATATA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273368	TATATATA others(15): Show TATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0211 a0002c0004t0005g0211	1	232	0.0043	-22	c.49+ others(39): Show c.49+78380_49+78401delTATATATATATATATATATACA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29405164	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp2 HG00741.hp2 others(28): Show HG00323.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01175.hp2 HG01891.hp2 HG01981.hp1 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02886.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03516.hp2 HG03710.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18957.hp2 NA19000.hp1 NA19080.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0002c0009 a0003c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(17): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0010 a0001c0002t0026 a0001c0005t0001 a0001c0005t0007 a0001c0006t0002 a0001c0006t0004 a0001c0006t0022 a0002c0009t0002 a0003c0007t0013	a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0160 others(28): Show a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0160 a0001c0001t0001g0225 a0001c0001t0005g0159 a0001c0001t0006g0162 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0007g0205 a0001c0001t0011g0053 a0001c0001t0012g0170 a0001c0001t0015g0117 a0001c0002t0001g0085 a0001c0002t0002g0086 a0001c0002t0002g0177 a0001c0002t0004g0004 a0001c0002t0004g0074 a0001c0002t0007g0152 a0001c0002t0010g0167 a0001c0002t0010g0210 a0001c0002t0026g0209 a0001c0005t0001g0051 a0001c0005t0001g0137 a0001c0005t0001g0185 a0001c0005t0007g0092 a0001c0006t0002g0197 a0001c0006t0002g0198 a0001c0006t0004g0182 a0001c0006t0022g0119 a0002c0009t0002g0033 a0003c0007t0013g0035	31	232	0.1336	-22	c.576 others(39): Show c.576+4373_576+4394delACACACACACACACACACACAC	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29458377	GCACACAC others(15): Show GCACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0169 a0001c0002t0004g0169	1	232	0.0043	-22	c.577 others(41): Show c.577-21882_577-21861delACACACACACACACACACACAC	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29482797	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA18984.hp2 NA18986.hp2 HG02896.hp2 NA18984.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0010 a0001c0002t0002 a0001c0002t0010	a0001c0002t0002g0007 a0001c0002t0002g0081 a0001c0002t0010g0220 a0001c0002t0002g0007 a0001c0002t0002g0081 a0001c0002t0010g0220	3	232	0.0129	-22	c.654 others(39): Show c.654+2462_654+2483delTTTTTTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHPT1_chr12_101692640_101734074	101699353	TTGTCAAT others(15): Show TTGTCAATGGATTGGTATGCTTA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0257 a0001c0003t0001g0257	1	402	0.0025	-22	c.273 others(39): Show c.273+1221_273+1242delGTCAATGGATTGGTATGCTTAT	CHPT1	ENSG00000111666.11	transcript	ENST00000229266.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHRDL1_chrX_110668856_110800817	110669058	ATATATAT others(15): Show ATATATATATTTATATATATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(11): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG02055.hp1 HG02083.hp1 HG02630.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG03225.hp1 HG03486.hp1 HG03579.hp1 HG06807.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 others(5): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0011 a0001c0002t0049 a0003c0004t0004 a0003c0004t0048	a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0077 others(11): Show a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0077 a0001c0002t0003g0156 a0001c0002t0004g0043 a0001c0002t0004g0157 a0001c0002t0006g0020 a0001c0002t0006g0041 a0001c0002t0006g0099 a0001c0002t0007g0122 a0001c0002t0011g0042 a0001c0002t0049g0039 a0003c0004t0004g0079 a0003c0004t0048g0145	14	172	0.0814	-22	c.71 others(33): Show c.7151_*7172delAATATATATATAAATATATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding		4797		chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689470	ATATATCT others(15): Show ATATATCTATATATCTATATCTC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0041 a0001c0002t0006g0041	1	172	0.0058	-22	c.779 others(37): Show c.779-689_779-668delGAGATATAGATATATAGATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689865	ATATCTAT others(15): Show ATATCTATATATATCTATATATC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0040 a0001c0002t0006g0040	1	172	0.0058	-22	c.779 others(39): Show c.779-1084_779-1063delGATATATAGATATATATAGATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110697814	CCACACAC others(15): Show CCACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0116 a0001c0001t0025g0116	1	172	0.0058	-22	c.609 others(39): Show c.609+2818_609+2839delTGTGTGTGTGTGTGTGTGTGTG	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	7/11			chrX	TogoVar
CHRM1_chr11_62903679_62926363	62924656	CTCTCTCT others(15): Show CTCTCTCTCTCTCTATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	420	0.0024	-22	c.-35 others(33): Show c.-3539_-3518delTATATATATAGAGAGAGAGAGA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3294		chr11	TogoVar
CHRM1_chr11_62903679_62926363	62924658	CTCTCTCT others(15): Show CTCTCTCTCTCTATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG02698.hp2 HG01175.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0009 a0001c0005t0001g0016 a0001c0001t0001g0009 a0001c0005t0001g0016	2	420	0.0048	-22	c.-35 others(33): Show c.-3541_-3520delTATATATATATAGAGAGAGAGA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3296		chr11	TogoVar
CHRM2_chr7_136863652_137025213	136867627	TGAGAGAG others(15): Show TGAGAGAGATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 NA20300.hp1 HG02970.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0014 a0001c0001t0013 a0001c0001t0014	a0001c0001t0013g0070 a0001c0001t0014g0071 a0001c0001t0013g0070 a0001c0001t0014g0071	2	320	0.0063	-22	c.-16 others(33): Show c.-1647_-1626delGAGAGAGATATATATATATATA	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		1024		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136938915	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0208 a0001c0001t0046g0208	1	320	0.0031	-22	c.-12 others(43): Show c.-124-53245_-124-53224delAAAAAAAAAAAAAAAAAAAAAA	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	137003473	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG01123.hp1 others(24): Show HG00621.hp1 HG00639.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01433.hp2 HG01516.hp1 HG01884.hp2 HG01978.hp1 HG02109.hp1 HG02451.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02896.hp1 HG02970.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03831.hp2 NA18522.hp1 NA19240.hp1 NA20752.hp2 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(14): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0026 a0001c0001t0032 a0001c0001t0035 a0001c0001t0053 a0001c0001t0071 a0001c0001t0073 a0006c0007t0001	a0001c0001t0002g0092 a0001c0001t0005g0042 a0001c0001t0005g0127 others(24): Show a0001c0001t0002g0092 a0001c0001t0005g0042 a0001c0001t0005g0127 a0001c0001t0005g0179 a0001c0001t0005g0310 a0001c0001t0007g0285 a0001c0001t0008g0072 a0001c0001t0008g0073 a0001c0001t0008g0083 a0001c0001t0008g0084 a0001c0001t0009g0298 a0001c0001t0011g0209 a0001c0001t0014g0071 a0001c0001t0015g0046 a0001c0001t0015g0048 a0001c0001t0015g0262 a0001c0001t0016g0112 a0001c0001t0016g0118 a0001c0001t0020g0102 a0001c0001t0026g0136 a0001c0001t0032g0111 a0001c0001t0035g0114 a0001c0001t0035g0115 a0001c0001t0053g0263 a0001c0001t0071g0306 a0001c0001t0073g0105 a0006c0007t0001g0156	27	320	0.0844	-22	c.-47 others(41): Show c.-47+11252_-47+11273delACACACACACACACACACACAC	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM3_chr1_239381568_239920450	239385936	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0003 a0001c0001t0006g0003	1	116	0.0086	-22	c.-18 others(33): Show c.-1811_-1790delGTGTGTGTGTGTGTGTGTGTGT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding		631		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239580258	TCACACAC others(15): Show TCACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0026 a0001c0001t0035g0026	1	116	0.0086	-22	c.-31 others(43): Show c.-313+34538_-313+34559delCACACACACACACACACACACA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNA1_chr2_174742592_174769472	174768037	ATGTATTA others(15): Show ATGTATTATATGTTTACATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02717.hp2 HG03471.hp2 others(1): Show HG02559.hp2 HG02717.hp2 HG03471.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0007 a0003c0004 a0001c0007 a0003c0004	a0001c0007t0008 a0003c0004t0001 a0001c0007t0008 a0003c0004t0001	a0001c0007t0008g0168 a0003c0004t0001g0028 a0003c0004t0001g0096 a0001c0007t0008g0168 a0003c0004t0001g0028 a0003c0004t0001g0096	4	370	0.0108	-22	c.-36 others(33): Show c.-3665_-3644delATATATGTAAACATATAATACA	CHRNA1	ENSG00000138435.16	transcript	ENST00000348749.9	protein_coding		3566		chr2	TogoVar
CHRNA4_chr20_63338223_63366349	63356160	GGGGCAGG others(15): Show GGGGCAGGGGCAGGGCCAGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01258.hp1 HG02015.hp1 others(15): Show HG00544.hp2 HG01258.hp1 HG02015.hp1 HG02129.hp2 HG02630.hp2 HG03017.hp2 HG03239.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA19043.hp2 NA19064.hp2	a0000 a0001 a0000 a0001	a0000c0017 a0001c0003 a0001c0004 a0000c0017 a0001c0003 a0001c0004	a0000c0017t0007 a0001c0003t0005 a0001c0004t0005 others(3): Show a0000c0017t0007 a0001c0003t0005 a0001c0004t0005 a0001c0004t0007 a0001c0004t0021 a0001c0004t0037	a0000c0017t0007g0104 a0001c0003t0005g0127 a0001c0004t0005g0012 others(13): Show a0000c0017t0007g0104 a0001c0003t0005g0127 a0001c0004t0005g0012 a0001c0004t0005g0013 a0001c0004t0005g0106 a0001c0004t0005g0136 a0001c0004t0005g0137 a0001c0004t0005g0139 a0001c0004t0005g0144 a0001c0004t0007g0103 a0001c0004t0007g0134 a0001c0004t0007g0135 a0001c0004t0007g0142 a0001c0004t0007g0143 a0001c0004t0021g0094 a0001c0004t0037g0145	18	168	0.1071	-22	c.274 others(35): Show c.274-98_274-77delTGCCCTGGCCCTGCCCCTGCCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	3/5			chr20	TogoVar
CHRNA5_chr15_78560520_78600269	78565470	TGGGCGGG others(15): Show TGGGCGGGGCCAGAGGGAAATAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(85): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02257.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02735.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp2 NA18906.hp2 NA18947.hp1 NA18952.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18969.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18983.hp2 NA18989.hp2 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19056.hp2 NA19057.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp2 NA19078.hp2 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19090.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0001 a0003c0003 a0005c0006 others(1): Show a0001c0001 a0003c0003 a0005c0006 a0007c0008	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(10): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0027 a0001c0001t0028 a0003c0003t0020 a0005c0006t0018 a0007c0008t0002	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0006 others(64): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0069 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0133 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0006g0134 a0001c0001t0007g0009 a0001c0001t0007g0021 a0001c0001t0007g0022 a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 a0001c0001t0007g0067 a0001c0001t0007g0068 a0001c0001t0010g0049 a0001c0001t0010g0052 a0001c0001t0010g0061 a0001c0001t0010g0062 a0001c0001t0010g0089 a0001c0001t0012g0136 a0001c0001t0012g0137 a0001c0001t0012g0219 a0001c0001t0013g0016 a0001c0001t0013g0027 a0001c0001t0013g0148 a0001c0001t0014g0174 a0001c0001t0014g0175 a0001c0001t0014g0176 a0001c0001t0017g0220 a0001c0001t0017g0221 a0001c0001t0027g0021 a0001c0001t0028g0022 a0003c0003t0020g0063 a0003c0003t0020g0141 a0005c0006t0018g0149 a0005c0006t0018g0150 a0007c0008t0002g0153	88	382	0.2304	-22	c.-24 others(31): Show c.-249_-228delGGGCGGGGCCAGAGGGAAATAG	CHRNA5	ENSG00000169684.13	transcript	ENST00000299565.9	protein_coding		49		chr15	TogoVar
CHRNB1_chr17_7440061_7462710	7446305	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	368	0.0027	-22	c.243 others(37): Show c.243+214_243+235delCTGTGTGTGTGTGTGTGTGTGT	CHRNB1	ENSG00000170175.11	transcript	ENST00000306071.7	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
CHRNB4_chr15_78619111_78646210	78632211	TTCTCTTT others(15): Show TTCTCTTTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0111 a0001c0001t0003g0111	1	416	0.0024	-22	c.205 others(37): Show c.205-901_205-880delGAGAGAGAGAGAGAGAAAGAGA	CHRNB4	ENSG00000117971.12	transcript	ENST00000261751.8	protein_coding	2/5			chr15	TogoVar
CHST11_chr12_104451948_104767014	104610043	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00423.hp1 others(57): Show HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01074.hp2 HG01168.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01884.hp2 HG02040.hp2 HG02055.hp1 HG02109.hp1 HG02135.hp1 HG02451.hp1 HG02602.hp1 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03195.hp1 HG03239.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03710.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18979.hp2 NA18986.hp2 NA18993.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19030.hp1 NA19077.hp1 NA19081.hp1 NA19086.hp1 NA19088.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0044 a0001c0001t0048 a0001c0001t0055 a0001c0001t0060 a0001c0001t0061 a0001c0001t0069	a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0039 others(57): Show a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0222 a0001c0001t0002g0022 a0001c0001t0002g0108 a0001c0001t0002g0134 a0001c0001t0002g0141 a0001c0001t0002g0199 a0001c0001t0002g0220 a0001c0001t0003g0016 a0001c0001t0003g0040 a0001c0001t0003g0073 a0001c0001t0003g0144 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0004g0106 a0001c0001t0007g0072 a0001c0001t0008g0232 a0001c0001t0009g0031 a0001c0001t0010g0012 a0001c0001t0010g0014 a0001c0001t0010g0038 a0001c0001t0011g0097 a0001c0001t0011g0105 a0001c0001t0012g0177 a0001c0001t0014g0192 a0001c0001t0015g0128 a0001c0001t0017g0015 a0001c0001t0017g0065 a0001c0001t0019g0006 a0001c0001t0019g0157 a0001c0001t0021g0183 a0001c0001t0021g0197 a0001c0001t0024g0195 a0001c0001t0025g0193 a0001c0001t0026g0026 a0001c0001t0026g0047 a0001c0001t0030g0032 a0001c0001t0032g0120 a0001c0001t0033g0051 a0001c0001t0034g0170 a0001c0001t0035g0171 a0001c0001t0037g0069 a0001c0001t0038g0068 a0001c0001t0040g0160 a0001c0001t0044g0184 a0001c0001t0048g0094 a0001c0001t0055g0219 a0001c0001t0060g0152 a0001c0001t0061g0091 a0001c0001t0069g0102	60	240	0.2500	-22	c.204 others(39): Show c.204+8084_204+8105delGTGTGTGTGTGTGTGTGTGTGT	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHST13_chr3_126519155_126548291	126527735	AAATTGGT others(15): Show AAATTGGTAGATGCTCCCCATGC	A A	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	364	0.0028	-22	c.97+ others(37): Show c.97+3307_97+3328delAATTGGTAGATGCTCCCCATGC	CHST13	ENSG00000180767.11	transcript	ENST00000319340.7	protein_coding	1/2			chr3	TogoVar
CHST13_chr3_126519155_126548291	126538528	TGGGCTCA others(15): Show TGGGCTCATGCCCTGACACAGCC	T T	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0079 a0001c0001t0005g0079	1	364	0.0028	-22	c.180 others(39): Show c.180+2179_180+2200delCTCATGCCCTGACACAGCCGGG	CHST13	ENSG00000180767.11	transcript	ENST00000319340.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHST8_chr19_33616953_33778506	33694093	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00544.hp2 others(27): Show HG00099.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG01099.hp1 HG01175.hp2 HG01243.hp1 HG01515.hp2 HG01517.hp2 HG01975.hp1 HG02071.hp2 HG02083.hp1 HG02257.hp2 HG02486.hp1 HG02683.hp2 HG02735.hp2 HG02818.hp2 HG03130.hp2 HG03239.hp1 HG03516.hp2 HG03540.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 NA18947.hp2 NA18975.hp1 NA19066.hp1 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0005c0004t0001	a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0079 others(27): Show a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0103 a0001c0001t0001g0122 a0001c0001t0001g0155 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0208 a0001c0001t0001g0229 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0003g0041 a0001c0001t0004g0002 a0001c0001t0004g0006 a0001c0001t0004g0173 a0005c0004t0001g0088	30	254	0.1181	-22	c.130 others(39): Show c.130+4718_130+4739delTATATATATATATATATATATA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33694169	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(23): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00621.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG02109.hp1 HG02165.hp1 HG02698.hp2 HG02717.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp2 HG03486.hp2 HG03492.hp2 HG06807.hp2 NA18954.hp2 NA18962.hp1 NA18973.hp1 NA18983.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0067 others(23): Show a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0123 a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0206 a0001c0001t0001g0232 a0001c0001t0001g0239 a0001c0001t0002g0043 a0001c0001t0003g0158 a0001c0001t0003g0237 a0001c0001t0004g0003 a0001c0001t0008g0120	26	254	0.1024	-22	c.130 others(39): Show c.130+4808_130+4829delTATATATATATATATATATATA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33753435	TCCATCCT others(15): Show TCCATCCTCCCACCACCCACCCA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(140): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01071.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18947.hp2 NA18954.hp1 NA18962.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18983.hp2 NA18990.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp2 NA19060.hp2 NA19070.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0007 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0002t0001 a0001c0003t0003 a0002c0007t0001 a0004c0005t0004	a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0022 others(140): Show a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0002g0036 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0003g0041 a0001c0001t0003g0098 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0003g0131 a0001c0001t0003g0137 a0001c0001t0003g0158 a0001c0001t0003g0216 a0001c0001t0003g0237 a0001c0001t0003g0243 a0001c0001t0003g0247 a0001c0001t0003g0250 a0001c0001t0004g0002 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0009 a0001c0001t0005g0082 a0001c0001t0005g0084 a0001c0001t0006g0185 a0001c0001t0007g0177 a0001c0001t0009g0174 a0001c0001t0010g0013 a0001c0001t0012g0192 a0001c0002t0001g0034 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0159 a0001c0002t0001g0176 a0001c0002t0001g0203 a0001c0002t0001g0207 a0001c0002t0001g0210 a0001c0002t0001g0236 a0001c0003t0003g0015 a0001c0003t0003g0016 a0001c0003t0003g0029 a0001c0003t0003g0124 a0001c0003t0003g0212 a0001c0003t0003g0214 a0001c0003t0003g0234 a0002c0007t0001g0227 a0004c0005t0004g0008	143	254	0.5630	-22	c.131 others(41): Show c.131-17946_131-17925delCACCACCCACCCACCATCCTCC	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST9_chr18_26901481_27190308	26991258	TGGAATCC others(15): Show TGGAATCCTCTTAATTCTCTAAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03225.hp2 HG02451.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0081 a0001c0005t0085 a0001c0001t0081 a0001c0005t0085	a0001c0001t0081g0255 a0001c0005t0085g0017 a0001c0001t0081g0255 a0001c0005t0085g0017	2	262	0.0076	-22	c.202 others(41): Show c.202+32836_202+32857delGTTAGAGAATTAAGAGGATTCC	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	4/5			chr18	TogoVar
CHST9_chr18_26901481_27190308	27052292	GTATATAT others(15): Show GTATATATGTATATATGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02258.hp1 others(6): Show HG01243.hp2 HG01891.hp2 HG02258.hp1 HG02451.hp1 HG02896.hp2 HG02965.hp2 HG03098.hp1 HG03195.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0034 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0034 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0078 a0001c0001t0081	a0001c0001t0003g0076 a0001c0001t0003g0244 a0001c0001t0004g0095 others(6): Show a0001c0001t0003g0076 a0001c0001t0003g0244 a0001c0001t0004g0095 a0001c0001t0034g0058 a0001c0001t0074g0077 a0001c0001t0075g0096 a0001c0001t0076g0023 a0001c0001t0078g0245 a0001c0001t0081g0255	9	262	0.0344	-22	c.122 others(39): Show c.122-3811_122-3790delTACACACATATATACATATATA	CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5			chr18	TogoVar
CHSY3_chr5_129899465_130191634	130020445	ATATATAT others(15): Show ATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02818.hp1 HG03139.hp2 HG02622.hp1 HG02818.hp1 HG03139.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0002c0007 a0003c0004 a0002c0003 a0002c0007 a0003c0004	a0002c0003t0006 a0002c0007t0012 a0003c0004t0018 a0002c0003t0006 a0002c0007t0012 a0003c0004t0018	a0002c0003t0006g0252 a0002c0007t0012g0129 a0003c0004t0018g0130 a0002c0003t0006g0252 a0002c0007t0012g0129 a0003c0004t0018g0130	3	276	0.0109	-22	c.108 others(45): Show c.1086+112087_1086+112108delATATATATATATATATTTTTTT	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CISD3_chr17_38725341_38740605	38728977	ACCTTGAG others(15): Show ACCTTGAGGCTGATGAGGGGACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02896.hp2 NA18906.hp2 HG02717.hp2 HG02896.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0014 a0001c0001t0010g0014	3	411	0.0073	-22	c.-13 others(33): Show c.-1381_-1360delCCTTGAGGCTGATGAGGGGACC	CISD3	ENSG00000277972.2	transcript	ENST00000613478.2	protein_coding		1363		chr17	TogoVar
CISH_chr3_50601489_50616774	50602050	GCGCGCAC others(15): Show GCGCGCACACACACACACACACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0014 a0001c0006t0009g0014	1	360	0.0028	-22	c.55 others(33): Show c.5535_*5556delTGTGTGTGTGTGTGTGTGCGCG	CISH	ENSG00000114737.16	transcript	ENST00000348721.4	protein_coding		4438		chr3	TogoVar
CIT_chr12_119680791_119882320	119709787	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG03139.hp1 others(2): Show HG02109.hp2 HG02280.hp1 HG03139.hp1 HG03486.hp2 NA19043.hp1	a0001 a0010 a0001 a0010	a0001c0006 a0001c0008 a0010c0032 a0001c0006 a0001c0008 a0010c0032	a0001c0006t0027 a0001c0008t0001 a0010c0032t0001 a0001c0006t0027 a0001c0008t0001 a0010c0032t0001	a0001c0006t0027g0234 a0001c0008t0001g0210 a0001c0008t0001g0211 others(2): Show a0001c0006t0027g0234 a0001c0008t0001g0210 a0001c0008t0001g0211 a0001c0008t0001g0212 a0010c0032t0001g0028	5	236	0.0212	-22	c.507 others(39): Show c.5071+442_5071+463delACACACACACACACACACACAC	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	39/47			chr12	TogoVar
CIT_chr12_119680791_119882320	119836284	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01928.hp1 HG01934.hp1 others(20): Show HG00597.hp1 HG01928.hp1 HG01934.hp1 HG02015.hp2 HG02027.hp1 HG02080.hp1 HG02083.hp2 HG03017.hp1 HG03492.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18993.hp2 NA18997.hp2 NA19002.hp2 NA19006.hp1 NA19009.hp2 NA19060.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0021 a0001c0001t0023 a0001c0002t0002 a0001c0006t0001 a0001c0031t0004	a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 others(20): Show a0001c0001t0001g0100 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0002g0139 a0001c0001t0004g0146 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0173 a0001c0001t0004g0194 a0001c0001t0021g0171 a0001c0001t0023g0214 a0001c0002t0002g0137 a0001c0002t0002g0227 a0001c0006t0001g0132 a0001c0006t0001g0136 a0001c0031t0004g0167	23	236	0.0975	-22	c.517 others(39): Show c.517-2078_517-2057delTTTTTTTTTTTTTTTTTTTTTT	CIT	ENSG00000122966.18	transcript	ENST00000392521.7	protein_coding	5/47			chr12	TogoVar
CKMT1A_chr15_43688859_43704222	43691019	AAAAGAAC others(15): Show AAAAGAACCCAAAAAAACCCCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp2 others(87): Show HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG01074.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01255.hp2 HG01361.hp2 HG01433.hp2 HG01928.hp1 HG01943.hp1 HG02015.hp2 HG02055.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02630.hp2 HG02698.hp1 HG02895.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03579.hp2 HG03704.hp2 HG03927.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18978.hp1 NA18980.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19063.hp2 NA19072.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19086.hp1 NA19091.hp1 NA19240.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0003g0002	90	392	0.2296	-22	c.-30 others(33): Show c.-3031_-3010delAAAGAACCCAAAAAAACCCCCC	CKMT1A	ENSG00000223572.10	transcript	ENST00000413453.7	protein_coding		2839		chr15	TogoVar
CKMT1B_chr15_43589027_43604406	43591187	AAAAGAAC others(15): Show AAAAGAACCCAAAAAAACCCCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 NA19081.hp1 HG01167.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0001g0001 a0001c0001t0002g0002	2	348	0.0058	-22	c.-30 others(33): Show c.-3031_-3010delAAAGAACCCAAAAAAACCCCCC	CKMT1B	ENSG00000237289.10	transcript	ENST00000441322.6	protein_coding		2839		chr15	TogoVar
CKMT2_chr5_81228322_81271398	81257141	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	356	0.0028	-22	c.755 others(37): Show c.755+162_755+183delGTGTGTGTGTGTGTGTGTGTGT	CKMT2	ENSG00000131730.16	transcript	ENST00000254035.9	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
CLASP2_chr3_33491245_33723254	33620997	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0225 a0001c0001t0004g0225	1	278	0.0036	-22	c.118 others(41): Show c.1181+1116_1181+1137delCACACACACACACACACACACA	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	11/38			chr3	TogoVar
CLCNKA_chr1_16017036_16039050	16019633	GCTGTTGC others(15): Show GCTGTTGCCTGGAGCAACAGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	-22	c.-24 others(33): Show c.-2437_-2416delCTGTTGCCTGGAGCAACAGGGC	CLCNKA	ENSG00000186510.12	transcript	ENST00000331433.5	protein_coding		2402		chr1	TogoVar
CLCNKA_chr1_16017036_16039050	16037991	AACACACA others(15): Show AACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01175.hp1 NA18906.hp1 others(8): Show HG00558.hp1 HG01175.hp1 NA18906.hp1 NA18949.hp1 NA18953.hp1 NA18956.hp1 NA18966.hp2 NA18997.hp1 NA19068.hp1 NA19079.hp1 NA19240.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0011 a0015 a0024	a0001c0005 a0001c0009 a0002c0002 others(5): Show a0001c0005 a0001c0009 a0002c0002 a0003c0003 a0003c0023 a0011c0018 a0015c0034 a0024c0033	a0001c0005t0001 a0001c0009t0001 a0002c0002t0002 others(5): Show a0001c0005t0001 a0001c0009t0001 a0002c0002t0002 a0003c0003t0002 a0003c0023t0002 a0011c0018t0002 a0015c0034t0002 a0024c0033t0002	a0001c0005t0001g0007 a0001c0009t0001g0016 a0002c0002t0002g0072 others(6): Show a0001c0005t0001g0007 a0001c0009t0001g0016 a0002c0002t0002g0072 a0003c0003t0002g0002 a0003c0003t0002g0095 a0003c0023t0002g0036 a0011c0018t0002g0002 a0015c0034t0002g0002 a0024c0033t0002g0002	11	392	0.0281	-22	c.43 others(33): Show c.4334_*4355delACACACACACACACACACACAC	CLCNKA	ENSG00000186510.12	transcript	ENST00000331433.5	protein_coding		3942		chr1	TogoVar

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