JoGo: Joint Open Genome and Omics Platform

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	chr	external
ACTBL2_chr5_57475018_57487811	57480392	T T	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0000 a0001c0001t0012g0000	1	448	0.0022	0	c.11 others(5): Show c.1185A>T	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	1185	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57480426	A A	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(29): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00735.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG01993.hp2 HG02148.hp2 HG02602.hp1 HG02647.hp2 HG02683.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp2 NA19082.hp1 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0002 a0001c0001t0010 a0005c0007t0002 a0001c0001t0002 a0001c0001t0010 a0005c0007t0002	a0001c0001t0002g0000 a0001c0001t0010g0000 a0005c0007t0002g0000 a0001c0001t0002g0000 a0001c0001t0010g0000 a0005c0007t0002g0000	32	448	0.0714	0	c.11 others(5): Show c.1151T>C	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	1151	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57480588	G G	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18947.hp1 NA18957.hp2 NA18961.hp2 others(2): Show NA18947.hp1 NA18957.hp2 NA18961.hp2 NA19058.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0001t0007g0000 a0001c0001t0008g0000	5	448	0.0112	0	c.98 others(4): Show c.989C>T	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	989	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57480800	T T	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp2 HG03453.hp1 HG02818.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0000 a0001c0001t0009g0000	2	448	0.0045	0	c.77 others(4): Show c.777A>G	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	777	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57480962	T T	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG02630.hp1 others(8): Show HG01884.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG03041.hp2 HG03471.hp2 HG06807.hp1 NA19030.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0004 a0001c0002t0013 a0002c0004t0004 a0001c0002t0004 a0001c0002t0013 a0002c0004t0004	a0001c0002t0004g0000 a0001c0002t0013g0000 a0002c0004t0004g0000 a0001c0002t0004g0000 a0001c0002t0013g0000 a0002c0004t0004g0000	11	448	0.0246	0	c.61 others(4): Show c.615A>G	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	615	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57480984	T T	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp1 HG01496.hp2 HG02055.hp1 others(9): Show HG00642.hp1 HG01496.hp2 HG02055.hp1 HG02559.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG03017.hp1 HG04115.hp1 HG04228.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0000 a0001c0003t0003g0000	12	448	0.0268	0	c.59 others(4): Show c.593A>C	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	593	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57481265	T T	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG01175.hp1 HG00323.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0000 a0001c0001t0010g0000	2	448	0.0045	0	c.31 others(4): Show c.312A>T	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	312	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57481265	T T	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0000 a0001c0002t0013g0000	1	448	0.0022	0	c.31 others(4): Show c.312A>G	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	312	chr5	TogoVar
ACTBL2_chr5_57475018_57487811	57481295	T T	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp2 HG01891.hp2 HG02486.hp1 others(3): Show HG01433.hp2 HG01891.hp2 HG02486.hp1 HG02970.hp2 HG03098.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	6	448	0.0134	0	c.28 others(4): Show c.282A>T	ACTBL2	ENSG00000169067.4	transcript	ENST00000423391.3	protein_coding	1/1	282	chr5	TogoVar
ACTB_chr7_5522148_5535601	5527243	C C	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0031 a0001c0001t0017g0031	1	370	0.0027	0	c.50 others(4): Show c.505G>A	ACTB	ENSG00000075624.17	transcript	ENST00000646664.1	protein_coding	6/6	505	chr7	TogoVar
ACTB_chr7_5522148_5535601	5527295	G G	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG01243.hp1 HG01256.hp2 others(4): Show HG00738.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01496.hp1 HG02615.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0008 a0001c0001t0013	a0001c0001t0008g0009 a0001c0001t0013g0049 a0001c0001t0013g0067 a0001c0001t0008g0009 a0001c0001t0013g0049 a0001c0001t0013g0067	7	370	0.0189	0	c.45 others(4): Show c.453C>G	ACTB	ENSG00000075624.17	transcript	ENST00000646664.1	protein_coding	6/6	453	chr7	TogoVar
ACTB_chr7_5522148_5535601	5527468	C C	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02970.hp2 others(2): Show HG02258.hp2 HG02451.hp2 HG02970.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0008 a0001c0003t0007g0008	5	370	0.0135	0	c.28 others(4): Show c.280G>A	ACTB	ENSG00000075624.17	transcript	ENST00000646664.1	protein_coding	6/6	280	chr7	TogoVar
ACTB_chr7_5522148_5535601	5527481	C C	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(128): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18945.hp2 NA18947.hp1 NA18953.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18973.hp1 NA18978.hp2 NA18990.hp2 NA18995.hp1 NA19002.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19083.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0017 a0001c0001t0019 a0001c0002t0005 a0001c0002t0009 a0001c0004t0002 a0001c0006t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0019 others(30): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0066 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0003g0007 a0001c0001t0003g0013 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0037 a0001c0001t0003g0073 a0001c0001t0003g0079 a0001c0001t0005g0077 a0001c0001t0006g0022 a0001c0001t0006g0024 a0001c0001t0006g0033 a0001c0001t0006g0059 a0001c0001t0010g0035 a0001c0001t0010g0036 a0001c0001t0017g0031 a0001c0001t0019g0028 a0001c0002t0005g0005 a0001c0002t0009g0011 a0001c0004t0002g0029 a0001c0006t0002g0074	131	370	0.3541	0	c.26 others(4): Show c.267G>A	ACTB	ENSG00000075624.17	transcript	ENST00000646664.1	protein_coding	6/6	267	chr7	TogoVar
ACTB_chr7_5522148_5535601	5527488	C C	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02970.hp2 others(2): Show HG02258.hp2 HG02451.hp2 HG02970.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0008 a0001c0003t0007g0008	5	370	0.0135	0	c.26 others(4): Show c.260G>A	ACTB	ENSG00000075624.17	transcript	ENST00000646664.1	protein_coding	6/6	260	chr7	TogoVar
ACTB_chr7_5522148_5535601	5527538	G G	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0048 a0001c0001t0018g0048	1	370	0.0027	0	c.21 others(4): Show c.210C>T	ACTB	ENSG00000075624.17	transcript	ENST00000646664.1	protein_coding	6/6	210	chr7	TogoVar
ACTB_chr7_5522148_5535601	5527546	T T	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0028 a0001c0001t0019g0028	1	370	0.0027	0	c.20 others(4): Show c.202A>G	ACTB	ENSG00000075624.17	transcript	ENST00000646664.1	protein_coding	6/6	202	chr7	TogoVar
ACTB_chr7_5522148_5535601	5527623	C C	CA CA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG00733.hp1 others(35): Show HG00438.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01175.hp1 HG01243.hp1 HG01261.hp2 HG01884.hp2 HG01928.hp2 HG02027.hp1 HG02055.hp2 HG02300.hp2 HG02615.hp2 HG02647.hp2 HG02895.hp1 HG03486.hp1 HG03654.hp2 HG03831.hp2 HG03942.hp1 HG04228.hp2 HG06807.hp2 NA18947.hp1 NA18967.hp1 NA18967.hp2 NA18978.hp2 NA19009.hp2 NA19030.hp2 NA19055.hp2 NA19062.hp2 NA19067.hp2 NA19090.hp2 NA19091.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0002t0009	a0001c0001t0003g0007 a0001c0001t0003g0013 a0001c0001t0003g0026 others(16): Show a0001c0001t0003g0007 a0001c0001t0003g0013 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0037 a0001c0001t0003g0073 a0001c0001t0003g0079 a0001c0001t0004g0006 a0001c0001t0004g0012 a0001c0001t0004g0034 a0001c0001t0004g0041 a0001c0001t0004g0046 a0001c0001t0004g0070 a0001c0001t0013g0049 a0001c0001t0013g0067 a0001c0001t0014g0032 a0001c0001t0014g0050 a0001c0001t0019g0028 a0001c0002t0009g0011	38	370	0.1027	1	c.12 others(5): Show c.124dupT	ACTB	ENSG00000075624.17	transcript	ENST00000646664.1	protein_coding	6/6	124	chr7	TogoVar
ACTB_chr7_5522148_5535601	5527623	CA CA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG01516.hp1 others(5): Show HG00099.hp1 HG00140.hp2 HG01516.hp1 HG02055.hp1 HG03017.hp2 HG03139.hp2 HG03834.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0006 a0001c0001t0012	a0001c0001t0006g0022 a0001c0001t0006g0024 a0001c0001t0006g0033 others(2): Show a0001c0001t0006g0022 a0001c0001t0006g0024 a0001c0001t0006g0033 a0001c0001t0006g0059 a0001c0001t0012g0018	8	370	0.0216	-1	c.12 others(5): Show c.124delT	ACTB	ENSG00000075624.17	transcript	ENST00000646664.1	protein_coding	6/6	124	chr7	TogoVar
ACTB_chr7_5522148_5535601	5527632	A A	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp1 HG02165.hp1 HG00423.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0017 a0001c0001t0011g0017	2	370	0.0054	0	c.11 others(4): Show c.116T>C	ACTB	ENSG00000075624.17	transcript	ENST00000646664.1	protein_coding	6/6	116	chr7	TogoVar
ACTB_chr7_5522148_5535601	5527645	A A	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0047 a0001c0001t0016g0047	1	370	0.0027	0	c.10 others(4): Show c.103T>G	ACTB	ENSG00000075624.17	transcript	ENST00000646664.1	protein_coding	6/6	103	chr7	TogoVar
ACTB_chr7_5522148_5535601	5527651	C C	CA CA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG01071.hp2 HG01099.hp1 others(12): Show HG00735.hp1 HG01071.hp2 HG01099.hp1 HG01123.hp1 HG01175.hp1 HG01257.hp1 HG02056.hp1 HG02965.hp1 HG03471.hp2 HG03669.hp1 NA18522.hp2 NA18947.hp1 NA19030.hp2 NA19067.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0014 a0001c0002t0005 others(1): Show a0001c0001t0005 a0001c0001t0014 a0001c0002t0005 a0001c0002t0009	a0001c0001t0005g0077 a0001c0001t0014g0032 a0001c0001t0014g0050 others(2): Show a0001c0001t0005g0077 a0001c0001t0014g0032 a0001c0001t0014g0050 a0001c0002t0005g0005 a0001c0002t0009g0011	15	370	0.0405	1	c.96 others(4): Show c.96dupT	ACTB	ENSG00000075624.17	transcript	ENST00000646664.1	protein_coding	6/6	96	chr7	TogoVar
ACTB_chr7_5522148_5535601	5527676	A A	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18963.hp1 NA19055.hp1 NA18963.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0035 a0001c0001t0010g0036 a0001c0001t0010g0035 a0001c0001t0010g0036	2	370	0.0054	0	c.72 others(3): Show c.72T>A	ACTB	ENSG00000075624.17	transcript	ENST00000646664.1	protein_coding	6/6	72	chr7	TogoVar
ACTC1_chr15_34785230_34800549	34790275	T T	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG03130.hp2 HG02451.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0082 a0001c0001t0003g0083	2	496	0.0040	0	c.13 others(4): Show c.137A>T	ACTC1	ENSG00000159251.9	transcript	ENST00000290378.6	protein_coding	7/7	137	chr15	TogoVar
ACTC1_chr15_34785230_34800549	34790373	G G	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0100 a0001c0001t0006g0100	1	496	0.0020	0	c.39 others(3): Show c.39C>T	ACTC1	ENSG00000159251.9	transcript	ENST00000290378.6	protein_coding	7/7	39	chr15	TogoVar
ACTC1_chr15_34785230_34800549	34790390	G G	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0072 a0001c0001t0007g0072	1	496	0.0020	0	c.22 others(3): Show c.22C>T	ACTC1	ENSG00000159251.9	transcript	ENST00000290378.6	protein_coding	7/7	22	chr15	TogoVar
ACTC1_chr15_34785230_34800549	34790392	A A	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0099 a0001c0001t0005g0099	1	496	0.0020	0	c.20 others(3): Show c.20T>A	ACTC1	ENSG00000159251.9	transcript	ENST00000290378.6	protein_coding	7/7	20	chr15	TogoVar
ACTG1_chr17_81504971_81517799	81510015	T T	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0025 a0001c0011t0025	a0001c0011t0025g0058 a0001c0011t0025g0058	1	370	0.0027	0	c.67 others(4): Show c.675A>C	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	675	chr17	TogoVar
ACTG1_chr17_81504971_81517799	81510029	G G	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp1 HG02622.hp1 HG02895.hp2 others(4): Show HG02258.hp1 HG02622.hp1 HG02895.hp2 HG02965.hp1 HG03041.hp1 HG03486.hp2 NA21309.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0010 a0001c0006t0004g0018 a0001c0006t0004g0010 a0001c0006t0004g0018	7	370	0.0189	0	c.66 others(4): Show c.661C>T	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	661	chr17	TogoVar
ACTG1_chr17_81504971_81517799	81510037	A A	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02071.hp2 NA18942.hp2 NA18954.hp2 HG02071.hp2 NA18942.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0015 a0001c0001t0007g0015	3	370	0.0081	0	c.65 others(4): Show c.653T>C	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	653	chr17	TogoVar
ACTG1_chr17_81504971_81517799	81510073	C C	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG02040.hp2 HG02258.hp1 others(12): Show HG00544.hp2 HG02040.hp2 HG02258.hp1 HG02622.hp1 HG02895.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp2 HG03486.hp2 HG03942.hp2 NA18969.hp2 NA18979.hp2 NA18993.hp1 NA19007.hp1 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0005 a0001c0005t0022 a0001c0006t0004 a0001c0005t0005 a0001c0005t0022 a0001c0006t0004	a0001c0005t0005g0009 a0001c0005t0005g0057 a0001c0005t0022g0028 others(2): Show a0001c0005t0005g0009 a0001c0005t0005g0057 a0001c0005t0022g0028 a0001c0006t0004g0010 a0001c0006t0004g0018	15	370	0.0405	0	c.61 others(4): Show c.617G>A	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	617	chr17	TogoVar
ACTG1_chr17_81504971_81517799	81510082	G G	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0019 a0001c0013t0019	a0001c0013t0019g0041 a0001c0013t0019g0041	1	370	0.0027	0	c.60 others(4): Show c.608C>A	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	608	chr17	TogoVar
ACTG1_chr17_81504971_81517799	81510090	C C	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02148.hp1 HG02451.hp2 others(2): Show HG02109.hp1 HG02148.hp1 HG02451.hp2 HG03139.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0016 a0001c0002 a0001c0016	a0001c0002t0006 a0001c0016t0006 a0001c0002t0006 a0001c0016t0006	a0001c0002t0006g0011 a0001c0016t0006g0055 a0001c0002t0006g0011 a0001c0016t0006g0055	5	370	0.0135	0	c.60 others(4): Show c.600G>A	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	600	chr17	TogoVar
ACTG1_chr17_81504971_81517799	81510135	G G	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0037 a0001c0001t0018g0037	1	370	0.0027	0	c.55 others(4): Show c.555C>A	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	555	chr17	TogoVar
ACTG1_chr17_81504971_81517799	81510164	A A	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG02040.hp2 HG02258.hp1 others(12): Show HG00544.hp2 HG02040.hp2 HG02258.hp1 HG02622.hp1 HG02895.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp2 HG03486.hp2 HG03942.hp2 NA18969.hp2 NA18979.hp2 NA18993.hp1 NA19007.hp1 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0005 a0001c0005t0022 a0001c0006t0004 a0001c0005t0005 a0001c0005t0022 a0001c0006t0004	a0001c0005t0005g0009 a0001c0005t0005g0057 a0001c0005t0022g0028 others(2): Show a0001c0005t0005g0009 a0001c0005t0005g0057 a0001c0005t0022g0028 a0001c0006t0004g0010 a0001c0006t0004g0018	15	370	0.0405	0	c.52 others(4): Show c.526T>C	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	526	chr17	TogoVar
ACTG1_chr17_81504971_81517799	81510165	G G	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp1 HG01069.hp1 HG01192.hp2 others(21): Show HG00438.hp1 HG01069.hp1 HG01192.hp2 HG01934.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG03942.hp1 HG04199.hp1 NA18939.hp1 NA18945.hp1 NA18948.hp2 NA18951.hp2 NA18963.hp2 NA18966.hp2 NA18990.hp1 NA18993.hp2 NA19009.hp1 NA19011.hp1 NA19066.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0031 a0001c0004t0003 a0001c0004t0031	a0001c0004t0003g0004 a0001c0004t0003g0050 a0001c0004t0003g0056 others(2): Show a0001c0004t0003g0004 a0001c0004t0003g0050 a0001c0004t0003g0056 a0001c0004t0003g0060 a0001c0004t0031g0066	24	370	0.0649	0	c.52 others(4): Show c.525C>T	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	525	chr17	TogoVar
ACTG1_chr17_81504971_81517799	81510169	G G	GT GT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG02040.hp2 HG02258.hp1 others(13): Show HG00544.hp2 HG02040.hp2 HG02258.hp1 HG02622.hp1 HG02895.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp2 HG03486.hp2 HG03834.hp2 HG03942.hp2 NA18969.hp2 NA18979.hp2 NA18993.hp1 NA19007.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0017 a0001c0005t0005 a0001c0005t0022 others(1): Show a0001c0001t0017 a0001c0005t0005 a0001c0005t0022 a0001c0006t0004	a0001c0001t0017g0033 a0001c0005t0005g0009 a0001c0005t0005g0057 others(3): Show a0001c0001t0017g0033 a0001c0005t0005g0009 a0001c0005t0005g0057 a0001c0005t0022g0028 a0001c0006t0004g0010 a0001c0006t0004g0018	16	370	0.0432	1	c.52 others(5): Show c.520dupA	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	520	chr17	TogoVar
ACTG1_chr17_81504971_81517799	81510184	G G	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0059 a0001c0001t0026g0059	1	370	0.0027	0	c.50 others(4): Show c.506C>T	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	506	chr17	TogoVar
ACTG1_chr17_81504971_81517799	81510190	G G	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18951.hp1 NA18975.hp1 NA18951.hp1 NA18975.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0013 a0001c0009t0013	a0001c0009t0013g0025 a0001c0009t0013g0025	2	370	0.0054	0	c.50 others(4): Show c.500C>T	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	500	chr17	TogoVar
ACTG1_chr17_81504971_81517799	81510222	T T	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp2 HG03453.hp2 HG02886.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0022 a0001c0001t0012g0022	2	370	0.0054	0	c.46 others(4): Show c.468A>T	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	468	chr17	TogoVar
ACTG1_chr17_81504971_81517799	81510223	C C	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0054 a0001c0001t0028g0054	1	370	0.0027	0	c.46 others(4): Show c.467G>A	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	467	chr17	TogoVar
ACTG1_chr17_81504971_81517799	81510228	G G	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0051 a0001c0001t0027g0051	1	370	0.0027	0	c.46 others(4): Show c.462C>T	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	462	chr17	TogoVar
ACTG1_chr17_81504971_81517799	81510263	C C	CA CA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG02040.hp2 HG02258.hp1 others(12): Show HG00544.hp2 HG02040.hp2 HG02258.hp1 HG02622.hp1 HG02895.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp2 HG03486.hp2 HG03942.hp2 NA18969.hp2 NA18979.hp2 NA18993.hp1 NA19007.hp1 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0005 a0001c0005t0022 a0001c0006t0004 a0001c0005t0005 a0001c0005t0022 a0001c0006t0004	a0001c0005t0005g0009 a0001c0005t0005g0057 a0001c0005t0022g0028 others(2): Show a0001c0005t0005g0009 a0001c0005t0005g0057 a0001c0005t0022g0028 a0001c0006t0004g0010 a0001c0006t0004g0018	15	370	0.0405	1	c.42 others(5): Show c.426dupT	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	426	chr17	TogoVar
ACTG1_chr17_81504971_81517799	81510320	C C	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG02040.hp2 HG02258.hp1 others(12): Show HG00544.hp2 HG02040.hp2 HG02258.hp1 HG02622.hp1 HG02895.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp2 HG03486.hp2 HG03942.hp2 NA18969.hp2 NA18979.hp2 NA18993.hp1 NA19007.hp1 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0005 a0001c0005t0022 a0001c0006t0004 a0001c0005t0005 a0001c0005t0022 a0001c0006t0004	a0001c0005t0005g0009 a0001c0005t0005g0057 a0001c0005t0022g0028 others(2): Show a0001c0005t0005g0009 a0001c0005t0005g0057 a0001c0005t0022g0028 a0001c0006t0004g0010 a0001c0006t0004g0018	15	370	0.0405	0	c.37 others(4): Show c.370G>A	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	370	chr17	TogoVar
ACTG1_chr17_81504971_81517799	81510326	T T	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0038 a0001c0001t0020g0038	1	370	0.0027	0	c.36 others(4): Show c.364A>T	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	364	chr17	TogoVar
ACTG1_chr17_81504971_81517799	81510330	C C	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp2 NA20752.hp2 HG01361.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0024 a0001c0001t0011g0024	2	370	0.0054	0	c.36 others(4): Show c.360G>A	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	360	chr17	TogoVar
ACTG1_chr17_81504971_81517799	81510404	C C	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0029 a0001c0003t0016g0029	1	370	0.0027	0	c.28 others(4): Show c.286G>A	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	286	chr17	TogoVar
ACTG1_chr17_81504971_81517799	81510406	T T	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG02040.hp2 HG02258.hp1 others(12): Show HG00544.hp2 HG02040.hp2 HG02258.hp1 HG02622.hp1 HG02895.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp2 HG03486.hp2 HG03942.hp2 NA18969.hp2 NA18979.hp2 NA18993.hp1 NA19007.hp1 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0005 a0001c0005t0022 a0001c0006t0004 a0001c0005t0005 a0001c0005t0022 a0001c0006t0004	a0001c0005t0005g0009 a0001c0005t0005g0057 a0001c0005t0022g0028 others(2): Show a0001c0005t0005g0009 a0001c0005t0005g0057 a0001c0005t0022g0028 a0001c0006t0004g0010 a0001c0006t0004g0018	15	370	0.0405	0	c.28 others(4): Show c.284A>G	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	284	chr17	TogoVar
ACTG1_chr17_81504971_81517799	81510412	C C	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0036 a0001c0001t0015g0036	1	370	0.0027	0	c.27 others(4): Show c.278G>A	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	278	chr17	TogoVar
ACTG1_chr17_81504971_81517799	81510498	C C	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG02040.hp2 HG02258.hp1 others(12): Show HG00544.hp2 HG02040.hp2 HG02258.hp1 HG02622.hp1 HG02895.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp2 HG03486.hp2 HG03942.hp2 NA18969.hp2 NA18979.hp2 NA18993.hp1 NA19007.hp1 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0005 a0001c0005t0022 a0001c0006t0004 a0001c0005t0005 a0001c0005t0022 a0001c0006t0004	a0001c0005t0005g0009 a0001c0005t0005g0057 a0001c0005t0022g0028 others(2): Show a0001c0005t0005g0009 a0001c0005t0005g0057 a0001c0005t0022g0028 a0001c0006t0004g0010 a0001c0006t0004g0018	15	370	0.0405	0	c.19 others(4): Show c.192G>C	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	192	chr17	TogoVar
ACTG1_chr17_81504971_81517799	81510544	T T	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0027 a0001c0001t0021g0027	1	370	0.0027	0	c.14 others(4): Show c.146A>G	ACTG1	ENSG00000184009.13	transcript	ENST00000573283.7	protein_coding	6/6	146	chr17	TogoVar

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