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
CFDP1_chr16_75288710_75438503	75349684	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18985.hp1 HG02257.hp2 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0074 a0001c0002t0001g0038 a0001c0002t0001g0074	2	314	0.0064	36	c.651 others(55): Show c.651-44503_651-44502insATATATATATATATATATATATATAT ATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349698	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0098	1	314	0.0032	36	c.651 others(55): Show c.651-44517_651-44516insGTATATATATATATATATATATATAT ATATATATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFD_chr19_854664_868641	864060	A A	ACACACAC others(29): Show ACACACACACACACACACACACACACACACACACGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	287	0.0035	36	c.82 others(45): Show c.822_*823insCACACACACACACACACACACACACACACACACGCG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		420		chr19	TogoVar
CFI_chr4_109735695_109806999	109783812	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG02717.hp2 others(4): Show HG01071.hp1 HG01071.hp2 HG02717.hp2 HG02818.hp2 NA19012.hp1 NA19072.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0098 a0001c0002t0001g0008 a0001c0002t0001g0060 others(4): Show a0001c0001t0001g0098 a0001c0002t0001g0008 a0001c0002t0001g0060 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0145 a0001c0002t0004g0006	7	354	0.0198	36	c.58- others(53): Show c.58-16989_58-16988insATATATATATATATATATATATATATAT ATATATAT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CFLAR_chr2_201111164_201181687	201132430	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0136 a0001c0002t0136	a0001c0002t0136g0053 a0001c0002t0136g0053	1	234	0.0043	36	c.282 others(51): Show c.282-574_282-573insTATATATATATATATATATATATATATATA TATATA	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CFTR_chr7_117475025_117673665	117612017	A A	ATATATAT others(29): Show ATATATATGTATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0047 a0001c0001t0005g0047	1	202	0.0050	36	c.336 others(53): Show c.3367+214_3367+215insATGTATATATATATATATATATATATAT ATGTATAT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117612019	A A	ATATATGT others(29): Show ATATATGTATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0025	1	202	0.0050	36	c.336 others(53): Show c.3367+214_3367+215insATGTATATATATATATATATATATATAT ATATGTAT	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CFTR_chr7_117475025_117673665	117612023	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0152 a0002c0002t0001g0152	1	202	0.0050	36	c.336 others(53): Show c.3367+245_3367+246insTATGTATATATATATATATATATATATA TATATATA	CFTR	ENSG00000001626.18	transcript	ENST00000003084.11	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
CGNL1_chr15_57371505_57555717	57394101	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02735.hp2 HG00423.hp2 HG02735.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0003	a0001c0001t0002g0217 a0002c0002t0003g0196 a0001c0001t0002g0217 a0002c0002t0003g0196	2	294	0.0068	36	c.-16 others(55): Show c.-16+17537_-16+17538insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TTCCCTCT others(29): Show TTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0067 a0005c0010t0002g0067	1	352	0.0028	36	c.-12 others(53): Show c.-12+1974_-12+1975insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGGGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TTCTCTCT others(29): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02080.hp1 HG02300.hp1 others(2): Show HG01516.hp1 HG02080.hp1 HG02300.hp1 NA18950.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 others(2): Show a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0004t0001g0247	5	352	0.0142	36	c.-12 others(53): Show c.-12+1939_-12+1974dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	352	0.0028	36	c.-12 others(53): Show c.-12+1922_-12+1923insAAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHAF1A_chr19_4397640_4448397	4408461	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0343 a0003c0004t0002g0343	1	384	0.0026	36	c.104 others(51): Show c.104-412_104-411insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAMP1_chr13_114309503_114332322	114328213	T T	TTTTATTT others(29): Show TTTTATTTATTTTGTTTTTTTGTAGTTTTTAGTTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0003 a0001c0012t0001g0003	1	414	0.0024	36	c.19 others(47): Show c.1932_*1933insTTTATTTATTTTGTTTTTTTGTAGTTTTTAGTTA TA	CHAMP1	ENSG00000198824.8	transcript	ENST00000361283.4	protein_coding		892		chr13	TogoVar
CHCHD6_chr3_126699240_126965420	126858402	A A	AAAGAGTC others(29): Show AAAGAGTCGGCACACGAGGCTTCATAAAAAGTGGGCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	216	0.0046	36	c.495 others(53): Show c.495+5673_495+5708dupAAGAGTCGGCACACGAGGCTTCATAAAA AGTGGGCT	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126864899	C C	CCTCCTCC others(29): Show CCTCCTCCACCATCACCTTCTCCTCCACCATCACCTT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19000.hp2 NA18995.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0008 a0002c0002t0001g0009	2	216	0.0093	36	c.495 others(55): Show c.495+12204_495+12205insTCTCCTCCACCATCACCTTCTCCTCC ACCATCACCT	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD3_chr17_7883789_7917755	7885307	C C	CCCGCCGC others(29): Show CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01516.hp2 HG01496.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0001 a0001c0001t0001g0027	2	366	0.0055	36	c.-36 others(47): Show c.-3694_-3693insCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC CG	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding		3481		chr17	TogoVar
CHD5_chr1_6096787_6185321	6107555	G G	GGGATGAT others(29): Show GGGATGATGGAGAGATAAAGGATGTAGGGATGATGAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0128 a0001c0003t0002g0128	1	320	0.0031	36	c.557 others(53): Show c.5579-777_5579-776insTTCATCATCCCTACATCCTTTATCTCTC CATCATCC	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	38/41			chr1	TogoVar
CHD5_chr1_6096787_6185321	6107715	G G	GGAATAAT others(29): Show GGAATAATAGAGGGATGATGGATGTTGGAGAGATGGA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0195 a0001c0001t0007g0195	1	320	0.0031	36	c.557 others(53): Show c.5579-937_5579-936insTCCATCTCTCCAACATCCATCATCCCTC TATTATTC	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	38/41			chr1	TogoVar
CHD7_chr8_60673740_60873028	60678770	G G	GGCGGCGG others(29): Show GGCGGCGGCGGCGGCAGCGGCGGCGGCGGCGGCGGCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0144 a0001c0001t0022g0144	1	236	0.0042	36	c.-47 others(45): Show c.-473_-472insAGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCGGC	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	1/38	62648	INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD9NB_chr16_53036484_53057897	53052995	G G	GCTCCTCC others(29): Show GCTCCTCCTCCTGCTCTTCCTCCTCCTCCTGCTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00621.hp2 HG01167.hp1 others(25): Show HG00597.hp2 HG00621.hp2 HG01167.hp1 HG01169.hp2 HG02083.hp1 HG02257.hp1 HG02683.hp1 HG02965.hp1 HG03195.hp2 HG03579.hp2 NA18939.hp1 NA18941.hp1 NA18950.hp2 NA18964.hp1 NA18965.hp2 NA18970.hp2 NA18983.hp1 NA18987.hp1 NA18992.hp1 NA18995.hp2 NA18999.hp2 NA19062.hp1 NA19067.hp1 NA19077.hp1 NA19079.hp2 NA19083.hp2 NA19084.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(10): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0020 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0036 a0001c0001t0039	a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0127 others(18): Show a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0127 a0001c0001t0006g0016 a0001c0001t0006g0048 a0001c0001t0006g0050 a0001c0001t0006g0109 a0001c0001t0006g0208 a0001c0001t0006g0216 a0001c0001t0007g0220 a0001c0001t0007g0221 a0001c0001t0008g0213 a0001c0001t0009g0047 a0001c0001t0013g0211 a0001c0001t0020g0214 a0001c0001t0028g0218 a0001c0001t0029g0210 a0001c0001t0030g0209 a0001c0001t0031g0215 a0001c0001t0036g0212 a0001c0001t0039g0217	28	406	0.0690	36	c.-42 others(45): Show c.-420_-419insGAAGAGCAGGAGGAGGAGGAAGAGCAGGAGGAGGAG	CHD9NB	ENSG00000277639.3	transcript	ENST00000619363.3	protein_coding		99		chr16	TogoVar
CHD9_chr16_53049991_53332497	53052995	G G	GCTCCTCC others(29): Show GCTCCTCCTCCTGCTCTTCCTCCTCCTCCTGCTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00621.hp2 HG01167.hp1 others(17): Show HG00597.hp2 HG00621.hp2 HG01167.hp1 HG01169.hp2 HG02257.hp2 HG02683.hp1 HG02965.hp1 HG03195.hp1 HG03579.hp1 NA18939.hp2 NA18950.hp1 NA18964.hp2 NA18970.hp2 NA18992.hp1 NA18995.hp1 NA18999.hp2 NA19012.hp2 NA19062.hp2 NA19084.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 a0001c0003t0010 a0001c0003t0019 a0001c0005t0005 a0001c0005t0018 a0002c0002t0001 a0002c0002t0014 a0003c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0003g0016 others(17): Show a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0003g0016 a0001c0003t0002g0002 a0001c0003t0002g0003 a0001c0003t0002g0005 a0001c0003t0002g0015 a0001c0003t0002g0094 a0001c0003t0010g0006 a0001c0003t0010g0013 a0001c0003t0019g0004 a0001c0005t0005g0017 a0001c0005t0005g0018 a0001c0005t0018g0001 a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0014g0011 a0003c0004t0001g0007	20	238	0.0840	36	c.-22 others(47): Show c.-2247_-2246insCTCCTCCTCCTGCTCTTCCTCCTCCTCCTGCTCT TC	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding		1995		chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02300.hp2 NA18952.hp2 HG00733.hp1 HG02300.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0009 a0001c0013t0001 a0001c0001t0001 a0001c0001t0009 a0001c0013t0001	a0001c0001t0001g0025 a0001c0001t0009g0050 a0001c0013t0001g0055 a0001c0001t0001g0025 a0001c0001t0009g0050 a0001c0013t0001g0055	3	238	0.0126	36	c.-16 others(55): Show c.-164-9489_-164-9488insTATATATATATATATATATATATATA TATATATATA	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATGTAT others(29): Show GTATGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02451.hp1 NA18950.hp1 HG01074.hp1 HG02451.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0003t0010 a0001c0001t0002 a0001c0003t0002 a0001c0003t0010	a0001c0001t0002g0171 a0001c0003t0002g0202 a0001c0003t0010g0013 a0001c0001t0002g0171 a0001c0003t0002g0202 a0001c0003t0010g0013	3	238	0.0126	36	c.-16 others(55): Show c.-164-9504_-164-9503insGTATATATATATATATATATATATAT ATATATATAT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATGTAT others(29): Show GTATGTATGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	238	0.0042	36	c.-16 others(55): Show c.-164-9504_-164-9503insGTATGTATATATATATATATATATAT ATATATATAT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTGTATAT others(29): Show GTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0220	1	238	0.0042	36	c.-16 others(55): Show c.-164-9506_-164-9505insGTATATATATATATATATATATATAT ATATATATAT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53167674	T T	TATATACA others(29): Show TATATACATAATATAGTGTATATCATATATACATATC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01168.hp2 HG01099.hp2 HG01168.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0048 a0002c0002t0001g0049	2	238	0.0084	36	c.145 others(57): Show c.1452+10139_1452+10174dupCATAATATAGTGTATATCATATAT ACATATCATATA	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	2/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHFR_chr12_132827356_132892605	132835917	A A	ACGGCACT others(29): Show ACGGCACTCACAGTGCCAGGCTCCCAGCACGGCGCAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0296 a0001c0001t0098g0296	1	378	0.0027	36	c.56 others(47): Show c.5636_*5637insGTGCGCCGTGCTGGGAGCCTGGCACTGTGAGTGC CG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	18/18	5636		chr12	TogoVar
CHIA_chr1_111285851_111325563	111321778	G G	GTTTGCTT others(29): Show GTTTGCTTCTTTTACATGCAAATGAAAGAAACCTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0048 a0002c0002t0008g0048	1	426	0.0024	36	c.13 others(47): Show c.1312_*1313insTTTGCTTCTTTTACATGCAAATGAAAGAAACCTA AA	CHIA	ENSG00000134216.19	transcript	ENST00000369740.6	protein_coding		1216		chr1	TogoVar
CHM_chrX_85856180_86052558	85856289	T T	TAAAAAAA others(29): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0238 a0001c0001t0004g0238	1	245	0.0041	36	c.83 others(47): Show c.8340_*8341insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding		4890		chrX	TogoVar
CHM_chrX_85856180_86052558	85913328	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	245	0.0041	36	c.116 others(55): Show c.1167-1991_1167-1990insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01192.hp1 HG02155.hp2 HG00140.hp1 HG01192.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0003 a0001c0001t0001g0090 a0001c0001t0001g0099	3	245	0.0122	36	c.116 others(55): Show c.1167-2030_1167-1995dupCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85981206	C C	CTATTTCT others(29): Show CTATTTCTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG01516.hp2 others(6): Show HG00323.hp2 HG00597.hp1 HG01516.hp2 HG01517.hp2 HG04199.hp1 NA18949.hp2 NA18983.hp1 NA19003.hp2 NA19055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0043 a0001c0002t0002g0046 a0001c0002t0002g0051 others(6): Show a0001c0002t0002g0043 a0001c0002t0002g0046 a0001c0002t0002g0051 a0001c0002t0002g0057 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0072	9	245	0.0367	36	c.189 others(51): Show c.189+530_189+531insTATATATATATATATATATATATATATATA GAAATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	3/14			chrX	TogoVar
CHN2_chr7_29189775_29519328	29273326	C C	CATATATA others(29): Show CATATATATATATATATATGTGTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG02293.hp2 others(1): Show HG00280.hp2 HG00642.hp1 HG02293.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0001c0001t0005 a0002c0004t0006 a0001c0001t0003 a0001c0001t0005 a0002c0004t0006	a0001c0001t0003g0161 a0001c0001t0003g0214 a0001c0001t0005g0159 others(1): Show a0001c0001t0003g0161 a0001c0001t0003g0214 a0001c0001t0005g0159 a0002c0004t0006g0201	4	232	0.0172	36	c.49+ others(53): Show c.49+78350_49+78351insATATGTGTATATATATATATATATATAT ATATATAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29442934	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0221 a0001c0001t0005g0221	1	232	0.0043	36	c.577 others(55): Show c.577-37328_577-37327insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29472281	A A	ACACACAC others(29): Show ACACACACACACACACACGCACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG00609.hp2 others(20): Show HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 NA18942.hp1 NA18957.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18990.hp2 NA19082.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0023 a0001c0002t0002 a0001c0002t0004 a0001c0005t0005 a0001c0008t0011 a0002c0004t0001	a0001c0001t0001g0188 a0001c0001t0003g0014 a0001c0001t0003g0044 others(20): Show a0001c0001t0001g0188 a0001c0001t0003g0014 a0001c0001t0003g0044 a0001c0001t0003g0057 a0001c0001t0003g0079 a0001c0001t0003g0087 a0001c0001t0003g0093 a0001c0001t0003g0096 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0161 a0001c0001t0003g0194 a0001c0001t0005g0133 a0001c0001t0006g0039 a0001c0001t0007g0003 a0001c0001t0008g0131 a0001c0001t0023g0206 a0001c0002t0002g0177 a0001c0002t0004g0169 a0001c0002t0004g0207 a0001c0005t0005g0114 a0001c0008t0011g0230 a0002c0004t0001g0038	23	232	0.0991	36	c.577 others(53): Show c.577-7968_577-7967insCACACGCACACACACACACACACGCACA CACACACA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHODL_chr21_18239833_18272370	18248649	T T	TTATATAC others(29): Show TTATATACATATATGTATAATACATATATGTATATAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0288 a0001c0001t0005g0288	1	402	0.0025	36	c.79+ others(51): Show c.79+3360_79+3361insGTATAATACATATATGTATATAATATATAC ATATAT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHP2_chr16_23750026_23763935	23759381	C C	CTTCTTTC others(29): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG02055.hp2 HG02109.hp2 others(13): Show HG00621.hp1 HG02055.hp2 HG02109.hp2 HG02451.hp2 HG02886.hp1 HG03195.hp1 HG03225.hp2 HG04115.hp1 HG06807.hp1 NA18948.hp1 NA18966.hp2 NA18980.hp1 NA18983.hp2 NA19068.hp2 NA19083.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0002g0013 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0002g0013 a0001c0001t0003g0002 a0001c0001t0003g0011	16	392	0.0408	36	c.17 others(47): Show c.1798_*1799insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding		447		chr16	TogoVar
CHRDL1_chrX_110668856_110800817	110669080	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	172	0.0058	36	c.71 others(47): Show c.7150_*7151insTATATAAATATATATATATATATATATATATATA TA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding		4775		chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110669080	T T	TTATATAT others(29): Show TTATATATATATATATATATTTATATATATATTTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0170 a0001c0001t0046g0170	1	172	0.0058	36	c.71 others(47): Show c.7150_*7151insTATAAATATATATATAAATATATATATATATATA TA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding		4775		chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110689879	C C	CTATATAT others(29): Show CTATATATCTATATATCTATATATATCTATATATCTA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG04228.hp1 HG00609.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0114 a0001c0001t0002g0046 a0001c0001t0002g0114	2	172	0.0116	36	c.779 others(53): Show c.779-1112_779-1077dupTAGATATATAGATATATATAGATATATA GATATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRFAM7A_chr15_30355566_30398540	30393863	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG04199.hp2 HG00544.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0048 a0001c0001t0004g0096 a0001c0001t0001g0048 a0001c0001t0004g0096	2	133	0.0150	36	c.-76 others(45): Show c.-769_-768insTAGACACACACACACACACACACACACACACACACA	CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding		324		chr15	TogoVar
CHRFAM7A_chr15_30355566_30398540	30393865	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG02273.hp2 HG02622.hp1 others(5): Show HG01496.hp2 HG02273.hp2 HG02622.hp1 HG02622.hp2 HG02897.hp2 HG03239.hp1 NA18966.hp2 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0023 a0002c0002 others(1): Show a0001c0001 a0001c0023 a0002c0002 a0002c0028	a0001c0001t0001 a0001c0001t0026 a0001c0023t0001 others(2): Show a0001c0001t0001 a0001c0001t0026 a0001c0023t0001 a0002c0002t0004 a0002c0028t0001	a0001c0001t0001g0045 a0001c0001t0001g0072 a0001c0001t0001g0093 others(5): Show a0001c0001t0001g0045 a0001c0001t0001g0072 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0026g0064 a0001c0023t0001g0092 a0002c0002t0004g0062 a0002c0028t0001g0046	8	133	0.0602	36	c.-77 others(45): Show c.-771_-770insTAGACACACACACACACACACACACACACACACACA	CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding		326		chr15	TogoVar
CHRM1_chr11_62903679_62926363	62924668	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	420	0.0024	36	c.-35 others(47): Show c.-3530_-3529insTATATATATATATATATATATATATAGAGAGAGA GA	CHRM1	ENSG00000168539.4	transcript	ENST00000306960.4	protein_coding		3306		chr11	TogoVar
CHRM2_chr7_136863652_137025213	136867716	C C	CATATATA others(29): Show CATATATATATTCTGGATATATATATCCTGGACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0124 a0001c0001t0022g0125 a0001c0001t0022g0124 a0001c0001t0022g0125	2	320	0.0063	36	c.-15 others(47): Show c.-1559_-1558insATATATATATTCTGGATATATATATCCTGGACAT AT	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		935		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136867962	T T	TATATATA others(29): Show TATATATATATATATTCTGGATATATATATATTCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01358.hp1 NA19240.hp1 HG00639.hp2 HG01358.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0035 a0001c0001t0020 a0001c0001t0035	a0001c0001t0020g0099 a0001c0001t0020g0100 a0001c0001t0035g0115 a0001c0001t0020g0099 a0001c0001t0020g0100 a0001c0001t0035g0115	3	320	0.0094	36	c.-13 others(47): Show c.-1313_-1312insATATATATATATATTCTGGATATATATATATTCT GG	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		689		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136867962	T T	TATATATA others(29): Show TATATATATATATTCTGGATATATATATATATTCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0114 a0001c0001t0035g0114	1	320	0.0031	36	c.-13 others(47): Show c.-1313_-1312insATATATATATATTCTGGATATATATATATATTCT GG	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		689		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136867983	T T	TATATATA others(29): Show TATATATATATATTCTGGATATATATATATATTCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02717.hp1 HG02818.hp2 others(4): Show HG01891.hp2 HG02717.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0032 a0001c0001t0073 others(3): Show a0001c0001t0031 a0001c0001t0032 a0001c0001t0073 a0001c0001t0074 a0001c0001t0078 a0001c0001t0080	a0001c0001t0031g0010 a0001c0001t0031g0096 a0001c0001t0032g0108 others(4): Show a0001c0001t0031g0010 a0001c0001t0031g0096 a0001c0001t0032g0108 a0001c0001t0073g0105 a0001c0001t0074g0098 a0001c0001t0078g0095 a0001c0001t0080g0097	7	320	0.0219	36	c.-12 others(47): Show c.-1292_-1291insATATATATATATTCTGGATATATATATATATTCT GG	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		668		chr7	TogoVar
CHRM2_chr7_136863652_137025213	137000567	G G	GGAAGGAA others(29): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01123.hp1 HG01361.hp2 others(11): Show HG01070.hp2 HG01123.hp1 HG01361.hp2 HG02723.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03195.hp2 HG03654.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(5): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0036 a0001c0001t0061 a0001c0001t0085 a0001c0010t0004	a0001c0001t0005g0135 a0001c0001t0007g0141 a0001c0001t0007g0204 others(10): Show a0001c0001t0005g0135 a0001c0001t0007g0141 a0001c0001t0007g0204 a0001c0001t0008g0072 a0001c0001t0008g0131 a0001c0001t0008g0272 a0001c0001t0011g0002 a0001c0001t0011g0210 a0001c0001t0011g0211 a0001c0001t0036g0056 a0001c0001t0061g0155 a0001c0001t0085g0057 a0001c0010t0004g0081	14	320	0.0438	36	c.-47 others(53): Show c.-47+8328_-47+8329insAAGGAAGGAAAGAAGGAAGGAAGGAAGG AAGGAAGG	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM3_chr1_239381568_239920450	239407417	T T	TATATATA others(29): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	116	0.0086	36	c.-52 others(57): Show c.-521+20191_-521+20192insTATATATATATATATATAGAGAGA GAGAGAGAGAGA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar

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