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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
CGNL1_chr15_57371505_57555717	57405772	C C	CTCCTTTC others(10): Show CTCCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	294	0.0034	17	c.-16 others(36): Show c.-16+29207_-16+29208insCTTTCTTTCTTTCTTTC	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(10): Show CTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA19001.hp1 HG01106.hp1 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0129 a0001c0002t0002g0130	2	352	0.0057	17	c.-12 others(34): Show c.-12+1922_-12+1923insAGAGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHAF1A_chr19_4397640_4448397	4408461	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02523.hp1 HG03209.hp1 others(3): Show HG00423.hp1 HG02523.hp1 HG03209.hp1 HG03831.hp1 NA19002.hp2 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0126 a0001c0001t0001g0214 a0001c0001t0001g0233 others(3): Show a0001c0001t0001g0126 a0001c0001t0001g0214 a0001c0001t0001g0233 a0001c0001t0001g0235 a0002c0002t0002g0084 a0002c0002t0002g0085	6	384	0.0156	17	c.104 others(32): Show c.104-428_104-412dupTTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4411644	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00642.hp1 others(25): Show HG00099.hp2 HG00639.hp2 HG00642.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01258.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp1 HG02055.hp2 HG02300.hp1 HG02698.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 NA18974.hp2 NA19062.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0003 a0002c0002 a0002c0011 others(2): Show a0001c0003 a0002c0002 a0002c0011 a0003c0004 a0006c0008	a0001c0003t0003 a0001c0003t0005 a0002c0002t0002 others(3): Show a0001c0003t0003 a0001c0003t0005 a0002c0002t0002 a0002c0011t0002 a0003c0004t0002 a0006c0008t0003	a0001c0003t0003g0011 a0001c0003t0003g0012 a0001c0003t0003g0277 others(23): Show a0001c0003t0003g0011 a0001c0003t0003g0012 a0001c0003t0003g0277 a0001c0003t0003g0284 a0001c0003t0003g0285 a0001c0003t0003g0293 a0001c0003t0003g0294 a0001c0003t0003g0295 a0001c0003t0003g0296 a0001c0003t0003g0297 a0001c0003t0003g0298 a0001c0003t0003g0311 a0001c0003t0003g0316 a0001c0003t0003g0317 a0001c0003t0005g0300 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0086 a0002c0002t0002g0113 a0002c0002t0002g0115 a0002c0011t0002g0281 a0002c0011t0002g0282 a0003c0004t0002g0332 a0003c0004t0002g0338 a0006c0008t0003g0299 a0006c0008t0003g0315	28	384	0.0729	17	c.960 others(34): Show c.960+1890_960+1906dupTTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4427136	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02056.hp2 HG02486.hp1 others(2): Show HG01192.hp1 HG02056.hp2 HG02486.hp1 HG03209.hp2 NA19056.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0002 a0001c0001t0001 a0003c0004t0002	a0001c0001t0001g0139 a0001c0001t0001g0185 a0001c0001t0001g0208 others(2): Show a0001c0001t0001g0139 a0001c0001t0001g0185 a0001c0001t0001g0208 a0003c0004t0002g0341 a0003c0004t0002g0343	5	384	0.0130	17	c.137 others(36): Show c.1378-1513_1378-1497dupTTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHCHD10_chr22_23760834_23772972	23771229	G G	GCCTGCCA others(10): Show GCCTGCCAGGATGCGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	431	0.0023	17	c.-33 others(28): Show c.-3372_-3356dupGCTCGCATCCTGGCAGG	CHCHD10	ENSG00000250479.9	transcript	ENST00000484558.3	protein_coding		3258		chr22	TogoVar
CHCHD1_chr10_73777048_73788652	73785604	G G	GCAGCCGC others(10): Show GCAGCCGCCTAGAGGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	342	0.0029	17	c.24 others(28): Show c.2417_*2418insCAGCCGCCTAGAGGCCC	CHCHD1	ENSG00000172586.8	transcript	ENST00000372833.6	protein_coding		1953		chr10	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	310	0.0032	17	c.369 others(36): Show c.369+19995_369+19996insACACACACACACACACA	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132983985	C C	CTCTCCCT others(10): Show CTCTCCCTCTCCCCACGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02723.hp1 NA18747.hp2 others(1): Show HG00544.hp1 HG02723.hp1 NA18747.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0221 a0001c0001t0001g0259 others(1): Show a0001c0001t0001g0150 a0001c0001t0001g0221 a0001c0001t0001g0259 a0001c0001t0001g0309	4	310	0.0129	17	c.252 others(34): Show c.252-8716_252-8700dupCCGTGGGGAGAGGGAGA	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	3/7			chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126817823	C C	CAGCCCTG others(10): Show CAGCCCTGAATGTCTTCT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01981.hp2 HG01496.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0211 a0001c0001t0001g0212	2	216	0.0093	17	c.412 others(36): Show c.412-34823_412-34807dupAGCCCTGAATGTCTTCT	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126824560	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02451.hp2 HG02976.hp1 others(2): Show HG00639.hp1 HG02451.hp2 HG02976.hp1 NA18522.hp2 NA20129.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0002 a0001c0001t0001 a0006c0008t0002	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 others(2): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0205 a0006c0008t0002g0098	5	216	0.0232	17	c.412 others(36): Show c.412-28082_412-28066dupAAAAAAAAAAAAAAAAA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126863037	C C	CATCACCT others(10): Show CATCACCTCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	216	0.0046	17	c.495 others(36): Show c.495+10308_495+10309insTCACCTCCTCCCCTCTA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126913207	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0096 a0002c0002t0002g0096	1	216	0.0046	17	c.496 others(34): Show c.496-1452_496-1436dupTTTTTTTTTTTTTTTTT	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD1L_chr1_147237684_147300762	147299000	C C	CCTTTTTT others(10): Show CCTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01361.hp2 HG01981.hp2 others(22): Show HG00099.hp1 HG01361.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 NA18747.hp2 NA18942.hp1 NA18945.hp1 NA18952.hp2 NA18967.hp2 NA18968.hp1 NA18974.hp1 NA18984.hp2 NA18986.hp1 NA18995.hp2 NA19058.hp2 NA19062.hp2 NA19064.hp2 NA19070.hp2 NA19080.hp2 NA19089.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0024 a0002c0002t0001g0025 others(16): Show a0002c0002t0001g0001 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0028 a0002c0002t0001g0104 a0002c0002t0001g0115 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0137 a0002c0002t0001g0139 a0002c0002t0001g0140	25	418	0.0598	17	c.34 others(28): Show c.3491_*3492insCTTTTTTTTTTTTTTTT	CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding		3239		chr1	TogoVar
CHD1L_chr1_147237684_147300762	147299000	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02015.hp2 HG02280.hp2 others(2): Show HG01109.hp1 HG02015.hp2 HG02280.hp2 HG02486.hp1 NA19075.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0003 a0001c0009t0003 a0002c0002t0001 a0001c0001t0003 a0001c0009t0003 a0002c0002t0001	a0001c0001t0003g0209 a0001c0001t0003g0216 a0001c0001t0003g0248 others(2): Show a0001c0001t0003g0209 a0001c0001t0003g0216 a0001c0001t0003g0248 a0001c0009t0003g0177 a0002c0002t0001g0142	5	418	0.0120	17	c.34 others(28): Show c.3491_*3492insTTTTTTTTTTTTTTTTT	CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding		3239		chr1	TogoVar
CHD1_chr5_98848985_98934007	98911142	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0040 a0001c0001t0015g0040	1	334	0.0030	17	c.54- others(32): Show c.54-6045_54-6044insATATATATATATATATA	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98911144	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02080.hp2 HG02293.hp1 others(1): Show HG02071.hp1 HG02080.hp2 HG02293.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0261 a0001c0001t0001g0297 a0001c0001t0001g0300 others(1): Show a0001c0001t0001g0261 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0008t0001g0276	4	334	0.0120	17	c.54- others(32): Show c.54-6047_54-6046insATATATATATATATATA	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18983.hp2 HG03540.hp2 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0016 a0001c0001t0001 a0002c0002t0016	a0001c0001t0001g0271 a0002c0002t0016g0134 a0001c0001t0001g0271 a0002c0002t0016g0134	2	334	0.0060	17	c.54- others(32): Show c.54-6049_54-6048insATATATATATATATATT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03490.hp2 HG03669.hp1 others(2): Show HG00642.hp2 HG03490.hp2 HG03669.hp1 HG03688.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0009 a0001c0001t0001 a0001c0003t0009	a0001c0001t0001g0234 a0001c0001t0001g0259 a0001c0001t0001g0291 others(2): Show a0001c0001t0001g0234 a0001c0001t0001g0259 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0003t0009g0225	5	334	0.0150	17	c.54- others(32): Show c.54-6049_54-6048insATATATATATATATATA	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98917299	C C	CCAAAAAA others(10): Show CCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02886.hp1 HG01891.hp2 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0056 a0001c0003t0002g0057 a0001c0003t0002g0056 a0001c0003t0002g0057	2	334	0.0060	17	c.53+ others(32): Show c.53+9034_53+9035insTTTTTTTTTTTTTTTTG	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD4_chr12_6565082_6612379	6580704	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0076 a0001c0004t0002g0076	1	374	0.0027	17	c.490 others(34): Show c.4909+323_4909+339dupTTTTTTTTTTTTTTTTT	CHD4	ENSG00000111642.16	transcript	ENST00000544040.7	protein_coding	33/39			chr12	TogoVar
CHD5_chr1_6096787_6185321	6160300	G G	GCCAGGGA others(10): Show GCCAGGGAAGGGCCCCAA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0195 a0001c0001t0007g0195	1	320	0.0031	17	c.208 others(32): Show c.208-786_208-785insTTGGGGCCCTTCCCTGG	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	2/41			chr1	TogoVar
CHD5_chr1_6096787_6185321	6160435	A A	AGCCCTAG others(10): Show AGCCCTAGCCAGGGAAGG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18970.hp2 NA18968.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0007 a0001c0005t0006 a0001c0001t0007 a0001c0005t0006	a0001c0001t0007g0258 a0001c0005t0006g0124 a0001c0001t0007g0258 a0001c0005t0006g0124	2	320	0.0063	17	c.208 others(32): Show c.208-921_208-920insCCTTCCCTGGCTAGGGC	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	2/41			chr1	TogoVar
CHD6_chr20_41397083_41623377	41419554	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02165.hp2 HG02040.hp1 HG02165.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0002 a0001c0001t0001 a0003c0006t0002	a0001c0001t0001g0034 a0003c0006t0002g0150 a0001c0001t0001g0034 a0003c0006t0002g0150	2	324	0.0062	17	c.612 others(34): Show c.6127+937_6127+953dupTTTTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	31/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41431776	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	324	0.0031	17	c.406 others(36): Show c.4068+5497_4068+5498insAAAAAAAAAAAAAAAAA	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	27/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41504077	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA18939.hp1 NA18992.hp2 others(1): Show HG03492.hp1 NA18939.hp1 NA18992.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0255 others(1): Show a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0002t0001g0273	4	324	0.0124	17	c.853 others(34): Show c.853-4737_853-4721dupTTTTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	5/36			chr20	TogoVar
CHDH_chr3_53807335_53851419	53810758	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG02040.hp2 HG02129.hp2 others(3): Show HG01070.hp1 HG02040.hp2 HG02129.hp2 HG02735.hp1 HG03834.hp1 NA18960.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0008 a0001c0003t0022 a0001c0003t0029 others(2): Show a0001c0003t0008 a0001c0003t0022 a0001c0003t0029 a0001c0003t0078 a0002c0002t0034	a0001c0003t0008g0005 a0001c0003t0022g0065 a0001c0003t0029g0032 others(2): Show a0001c0003t0008g0005 a0001c0003t0022g0065 a0001c0003t0029g0032 a0001c0003t0078g0077 a0002c0002t0034g0289	6	392	0.0153	17	c.70 others(28): Show c.7002_*7018dupTTTTTTTTTTTTTTTTT	CHDH	ENSG00000016391.11	transcript	ENST00000315251.11	protein_coding		1576		chr3	TogoVar
CHEK2_chr22_28682743_28746820	28698228	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	384	0.0026	17	c.100 others(36): Show c.1009-1258_1009-1242dupTTTTTTTTTTTTTTTTT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	9/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28729540	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02523.hp1 NA19077.hp1 HG00438.hp2 HG02523.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0364 a0001c0002t0001g0365 a0001c0002t0001g0366 a0001c0002t0001g0364 a0001c0002t0001g0365 a0001c0002t0001g0366	3	384	0.0078	17	c.320 others(34): Show c.320-4190_320-4174dupTTTTTTTTTTTTTTTTT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHGA_chr14_92918150_92940285	92920654	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19066.hp2 NA19043.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0080 a0001c0001t0001g0001 a0001c0001t0001g0080	2	447	0.0045	17	c.-27 others(28): Show c.-2706_-2705insAAAAAAAAAAAAAAAAA	CHGA	ENSG00000100604.13	transcript	ENST00000216492.10	protein_coding		2495		chr14	TogoVar
CHI3L2_chr1_111222713_111248440	111229681	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02970.hp1 HG03098.hp2 others(3): Show HG02486.hp1 HG02970.hp1 HG03098.hp2 HG03486.hp2 HG03516.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0016 a0001c0001t0005g0044 a0001c0001t0003g0016 a0001c0001t0005g0044	6	434	0.0138	17	c.41- others(30): Show c.41-163_41-147dupAAAAAAAAAAAAAAAAA	CHI3L2	ENSG00000064886.14	transcript	ENST00000369748.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHL1_chr3_191763_414417	239595	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03453.hp2 HG02145.hp2 HG03453.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0019c0022 a0001c0001 a0019c0022	a0001c0001t0025 a0019c0022t0032 a0001c0001t0025 a0019c0022t0032	a0001c0001t0025g0103 a0019c0022t0032g0240 a0001c0001t0025g0103 a0019c0022t0032g0240	2	290	0.0069	17	c.-17 others(36): Show c.-174-5018_-174-5017insTATATATATATATATAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	1/27			chr3	TogoVar
CHL1_chr3_191763_414417	333124	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01175.hp2 HG02083.hp1 others(7): Show HG00140.hp1 HG01175.hp2 HG02083.hp1 HG02145.hp1 HG02273.hp1 NA18965.hp1 NA19010.hp2 NA19056.hp1 NA19079.hp1 NA19088.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0005c0005t0001	a0001c0001t0001g0170 a0001c0001t0001g0188 a0001c0001t0001g0269 others(7): Show a0001c0001t0001g0170 a0001c0001t0001g0188 a0001c0001t0001g0269 a0001c0001t0002g0032 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0191 a0001c0001t0018g0246 a0005c0005t0001g0156	10	290	0.0345	17	c.385 others(34): Show c.385+4778_385+4779insTTTTTTTTTTTTTTTTT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	5/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHMP1B_chr18_11846413_11859444	11853763	C C	CCTCTTAG others(10): Show CCTCTTAGAAGGTCATGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02486.hp2 others(11): Show HG02055.hp2 HG02145.hp2 HG02486.hp2 HG02630.hp2 HG02922.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0026 a0001c0001t0028 a0001c0001t0004 a0001c0001t0026 a0001c0001t0028	a0001c0001t0004g0000 a0001c0001t0026g0000 a0001c0001t0028g0000 a0001c0001t0004g0000 a0001c0001t0026g0000 a0001c0001t0028g0000	14	438	0.0320	17	c.16 others(28): Show c.1655_*1656insTTAGAAGGTCATGTCTC	CHMP1B	ENSG00000255112.3	transcript	ENST00000526991.3	protein_coding	1/1	1656	INFO_REALIGN_3_PRIME	chr18	TogoVar
CHM_chrX_85856180_86052558	85856289	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG03540.hp1 NA19030.hp1 HG02559.hp1 HG03540.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0116 a0001c0001t0006g0221 a0001c0001t0006g0222 a0001c0001t0006g0116 a0001c0001t0006g0221 a0001c0001t0006g0222	3	245	0.0122	17	c.83 others(28): Show c.8340_*8341insTTTTTTTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding		4890		chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAAAAGAA others(10): Show AAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp2 NA19082.hp1 NA18979.hp1 NA18979.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0170 a0001c0001t0003g0134 a0001c0001t0001g0007 a0001c0001t0001g0170 a0001c0001t0003g0134	3	245	0.0122	17	c.116 others(36): Show c.1167-1995_1167-1994insCTTTCTTTCTTTCTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03540.hp1 NA18960.hp1 HG02809.hp1 HG03540.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0024 a0001c0001t0001g0187 a0001c0001t0006g0221 a0001c0001t0001g0024 a0001c0001t0001g0187 a0001c0001t0006g0221	3	245	0.0122	17	c.116 others(36): Show c.1167-1995_1167-1994insCTTTCTTTCTTTCTTTC	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	86021142	A A	ACGTAGTG others(10): Show ACGTAGTGCTTCGGATTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0078 a0001c0001t0019g0078	1	245	0.0041	17	c.116 others(34): Show c.116+6348_116+6349insAAATCCGAAGCACTACG	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	2/14			chrX	TogoVar
CHM_chrX_85856180_86052558	86026102	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0233 a0001c0001t0004g0233	1	245	0.0041	17	c.116 others(34): Show c.116+1372_116+1388dupAAAAAAAAAAAAAAAAA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	2/14			chrX	TogoVar
CHN2_chr7_29189775_29519328	29222490	C C	CATGGTAC others(10): Show CATGGTACTGGTACATAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00438.hp2 others(104): Show HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03710.hp1 HG03834.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18948.hp2 NA18957.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18984.hp1 NA18986.hp2 NA18998.hp1 NA19000.hp1 NA19005.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19079.hp1 NA19080.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0002c0003 a0002c0004 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(30): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0023 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0010 a0001c0002t0014 a0001c0002t0016 a0001c0002t0020 a0001c0002t0025 a0001c0005t0001 a0001c0005t0005 a0001c0005t0007 a0001c0006t0022 a0002c0003t0002 a0002c0003t0004 a0002c0003t0018 a0002c0003t0021 a0002c0004t0005 a0002c0004t0006 a0002c0004t0007 a0002c0004t0012 a0002c0004t0017 a0003c0007t0013	a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0015 others(104): Show a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0064 a0001c0001t0001g0082 a0001c0001t0001g0103 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0192 a0001c0001t0001g0224 a0001c0001t0003g0044 a0001c0001t0003g0049 a0001c0001t0003g0057 a0001c0001t0003g0079 a0001c0001t0003g0111 a0001c0001t0003g0138 a0001c0001t0003g0143 a0001c0001t0003g0161 a0001c0001t0003g0200 a0001c0001t0003g0204 a0001c0001t0003g0231 a0001c0001t0005g0018 a0001c0001t0005g0129 a0001c0001t0005g0159 a0001c0001t0005g0174 a0001c0001t0005g0193 a0001c0001t0005g0221 a0001c0001t0006g0020 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0066 a0001c0001t0006g0153 a0001c0001t0006g0162 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0205 a0001c0001t0007g0212 a0001c0001t0007g0223 a0001c0001t0008g0008 a0001c0001t0008g0010 a0001c0001t0008g0011 a0001c0001t0008g0065 a0001c0001t0008g0176 a0001c0001t0008g0178 a0001c0001t0008g0228 a0001c0001t0009g0017 a0001c0001t0009g0158 a0001c0001t0009g0232 a0001c0001t0011g0046 a0001c0001t0011g0053 a0001c0001t0023g0206 a0001c0002t0001g0063 a0001c0002t0002g0002 a0001c0002t0002g0045 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0081 a0001c0002t0002g0083 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0215 a0001c0002t0002g0219 a0001c0002t0003g0068 a0001c0002t0004g0004 a0001c0002t0004g0074 a0001c0002t0004g0169 a0001c0002t0004g0196 a0001c0002t0004g0207 a0001c0002t0007g0152 a0001c0002t0010g0155 a0001c0002t0010g0167 a0001c0002t0010g0210 a0001c0002t0014g0019 a0001c0002t0014g0067 a0001c0002t0016g0048 a0001c0002t0020g0052 a0001c0002t0025g0024 a0001c0005t0001g0051 a0001c0005t0001g0137 a0001c0005t0005g0151 a0001c0005t0007g0092 a0001c0006t0022g0119 a0002c0003t0002g0142 a0002c0003t0002g0154 a0002c0003t0004g0089 a0002c0003t0004g0099 a0002c0003t0004g0101 a0002c0003t0004g0104 a0002c0003t0004g0110 a0002c0003t0004g0124 a0002c0003t0004g0203 a0002c0003t0018g0047 a0002c0003t0021g0112 a0002c0004t0005g0175 a0002c0004t0005g0202 a0002c0004t0006g0113 a0002c0004t0007g0084 a0002c0004t0007g0157 a0002c0004t0012g0180 a0002c0004t0017g0128 a0003c0007t0013g0013 a0003c0007t0013g0135	107	232	0.4612	17	c.49+ others(34): Show c.49+27501_49+27502insTGGTACTGGTACATAAA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29233825	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02886.hp2 HG02647.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0221 a0001c0001t0011g0046 a0001c0001t0005g0221 a0001c0001t0011g0046	2	232	0.0086	17	c.49+ others(34): Show c.49+38845_49+38861dupTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29252578	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02602.hp2 HG02886.hp1 others(3): Show HG01257.hp1 HG02602.hp2 HG02886.hp1 NA18982.hp1 NA18982.hp2 NA18990.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0007 a0001c0001 a0002c0004 a0003c0007	a0001c0001t0003 a0001c0001t0007 a0001c0001t0019 others(2): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0019 a0002c0004t0001 a0003c0007t0013	a0001c0001t0003g0087 a0001c0001t0003g0194 a0001c0001t0007g0075 others(3): Show a0001c0001t0003g0087 a0001c0001t0003g0194 a0001c0001t0007g0075 a0001c0001t0019g0115 a0002c0004t0001g0038 a0003c0007t0013g0035	6	232	0.0259	17	c.49+ others(34): Show c.49+57600_49+57616dupTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29252584	T T	TTTTTTTG others(10): Show TTTTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02723.hp1 HG01884.hp1 HG01891.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0010 a0001c0002t0027 a0001c0002t0002 a0001c0002t0010 a0001c0002t0027	a0001c0002t0002g0041 a0001c0002t0010g0061 a0001c0002t0027g0060 a0001c0002t0002g0041 a0001c0002t0010g0061 a0001c0002t0027g0060	3	232	0.0129	17	c.49+ others(34): Show c.49+57600_49+57601insGTTTTGTTTTGTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29252585	T T	TTTTTTTG others(10): Show TTTTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG01496.hp1 others(4): Show HG00438.hp2 HG00673.hp2 HG01496.hp1 NA18942.hp2 NA19079.hp1 NA19080.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0002c0003t0004	a0001c0001t0001g0192 a0001c0001t0005g0129 a0001c0001t0005g0159 others(4): Show a0001c0001t0001g0192 a0001c0001t0005g0129 a0001c0001t0005g0159 a0001c0001t0005g0174 a0001c0001t0009g0158 a0002c0003t0004g0099 a0002c0003t0004g0110	7	232	0.0302	17	c.49+ others(34): Show c.49+57601_49+57602insGTTTTGTTTTGTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29252590	T T	TTGTTTTG others(10): Show TTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0169 a0001c0002t0004g0169	1	232	0.0043	17	c.49+ others(34): Show c.49+57601_49+57602insGTTTTGTTTTGTTTTGT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29417333	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0038 a0002c0004t0001g0038	1	232	0.0043	17	c.576 others(36): Show c.576+16509_576+16525dupTTTTTTTTTTTTTTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29473482	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTTTG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01934.hp1 HG02148.hp1 others(3): Show HG01928.hp1 HG01934.hp1 HG02148.hp1 HG02293.hp2 NA18942.hp2 NA19085.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0004 a0002c0004t0005 a0002c0004t0006 a0002c0003t0004 a0002c0004t0005 a0002c0004t0006	a0002c0003t0004g0089 a0002c0003t0004g0099 a0002c0003t0004g0101 others(3): Show a0002c0003t0004g0089 a0002c0003t0004g0099 a0002c0003t0004g0101 a0002c0003t0004g0146 a0002c0004t0005g0175 a0002c0004t0006g0201	6	232	0.0259	17	c.577 others(34): Show c.577-6797_577-6796insGTGTGTGTGTGTGTTTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12			chr7	TogoVar
CHN2_chr7_29189775_29519328	29473482	T T	TTTGTGTG others(10): Show TTTGTGTGTGTGTGTTTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG02055.hp1 others(10): Show HG00438.hp1 HG00597.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02145.hp1 HG02165.hp1 HG02622.hp2 HG03579.hp2 NA19005.hp1 NA19030.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0009	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(5): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0002c0003t0002 a0002c0003t0004 a0002c0004t0005 a0002c0004t0007 a0002c0009t0002	a0001c0001t0001g0103 a0001c0002t0002g0078 a0001c0002t0004g0199 others(10): Show a0001c0001t0001g0103 a0001c0002t0002g0078 a0001c0002t0004g0199 a0002c0003t0002g0069 a0002c0003t0002g0154 a0002c0003t0004g0021 a0002c0003t0004g0072 a0002c0003t0004g0104 a0002c0003t0004g0124 a0002c0004t0005g0202 a0002c0004t0007g0084 a0002c0004t0007g0157 a0002c0009t0002g0033	13	232	0.0560	17	c.577 others(34): Show c.577-6796_577-6795insTGTGTGTGTGTGTTTGT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHODL_chr21_18239833_18272370	18248819	A A	ATATATGT others(10): Show ATATATGTATGTATATTG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp2 HG03130.hp2 others(2): Show HG00741.hp2 HG01243.hp2 HG03130.hp2 HG03579.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0014 a0001c0001t0030 a0001c0001t0013 a0001c0001t0014 a0001c0001t0030	a0001c0001t0013g0048 a0001c0001t0014g0304 a0001c0001t0014g0305 others(1): Show a0001c0001t0013g0048 a0001c0001t0014g0304 a0001c0001t0014g0305 a0001c0001t0030g0057	5	402	0.0124	17	c.79+ others(32): Show c.79+3533_79+3549dupTGTATATGTATGTATAT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHP2_chr16_23750026_23763935	23759423	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01981.hp1 others(2): Show HG00140.hp2 HG00741.hp2 HG01981.hp1 HG02698.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0002c0002t0001g0002 a0001c0001t0001g0002 a0002c0002t0001g0002	5	392	0.0128	17	c.18 others(28): Show c.1840_*1841insCTTTCTTTCTTTCTTTC	CHP2	ENSG00000166869.3	transcript	ENST00000300113.3	protein_coding		489		chr16	TogoVar

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