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
ACTR6_chr12_100195815_100229424	100200509	G G	GAC GAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00642.hp1 others(67): Show HG00099.hp1 HG00099.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01255.hp1 HG01256.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02273.hp1 HG02280.hp2 HG02523.hp2 HG02622.hp1 HG02683.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03139.hp2 HG03225.hp2 HG03490.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG04184.hp2 HG04199.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18952.hp1 NA18964.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18979.hp1 NA18990.hp2 NA18995.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp2 NA19078.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0001c0001t0001 a0001c0001t0003 a0001c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(39): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0003g0039 a0001c0001t0003g0043 a0001c0004t0001g0047 a0001c0004t0001g0048	70	242	0.2893	2	c.-34 others(11): Show c.-343_-342insAC	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding		305		chr12	TogoVar
ACTR6_chr12_100195815_100229424	100202857	C C	CAA CAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02572.hp2 others(4): Show HG02145.hp2 HG02280.hp1 HG02572.hp2 HG02622.hp2 HG03225.hp1 HG03453.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0142 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0142	7	242	0.0289	2	c.68+ others(17): Show c.68+1954_68+1955dupAA	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTR6_chr12_100195815_100229424	100203645	C C	CTT CTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG02572.hp1 others(11): Show HG01884.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02735.hp1 HG02922.hp1 HG03130.hp1 HG03453.hp2 HG03540.hp2 HG03834.hp2 HG03942.hp1 NA18960.hp1 NA19078.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0001g0011 a0001c0001t0001g0116 a0001c0001t0001g0135 others(8): Show a0001c0001t0001g0011 a0001c0001t0001g0116 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0003g0043 a0001c0003t0002g0044 a0001c0003t0002g0117	14	242	0.0579	2	c.69- others(17): Show c.69-1273_69-1272dupTT	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTR6_chr12_100195815_100229424	100206834	C C	CTT CTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG02280.hp1 others(14): Show HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02818.hp2 HG02976.hp1 HG03225.hp1 HG03453.hp1 HG03540.hp1 NA19030.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0027 others(8): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149	17	242	0.0703	2	c.256 others(17): Show c.256-813_256-812dupTT	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTR6_chr12_100195815_100229424	100211624	A A	AAT AAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02976.hp2 HG03209.hp1 others(2): Show HG02717.hp1 HG02976.hp2 HG03209.hp1 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0034 a0001c0002t0002g0005 a0001c0002t0002g0034	5	242	0.0207	2	c.573 others(17): Show c.573-617_573-616dupAT	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTR6_chr12_100195815_100229424	100213006	C C	CAA CAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02015.hp1 HG02451.hp2 others(14): Show HG01884.hp2 HG02015.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02735.hp1 HG02922.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03834.hp2 NA18522.hp1 NA19000.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0006t0001	a0001c0001t0001g0011 a0001c0001t0001g0045 a0001c0001t0001g0134 others(11): Show a0001c0001t0001g0011 a0001c0001t0001g0045 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0043 a0001c0002t0002g0034 a0001c0006t0001g0133	17	242	0.0703	2	c.750 others(17): Show c.750+499_750+500dupAA	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTR6_chr12_100195815_100229424	100222257	G G	GTT GTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02486.hp2 HG02572.hp1 others(6): Show HG01346.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02965.hp2 HG03516.hp1 HG03579.hp2 HG04184.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0001t0001 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0036 a0001c0001t0001g0090 a0001c0001t0001g0108 others(6): Show a0001c0001t0001g0036 a0001c0001t0001g0090 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0006g0130 a0001c0002t0002g0035	9	242	0.0372	2	c.106 others(21): Show c.1062-1511_1062-1510dupTT	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTR6_chr12_100195815_100229424	100228242	A A	AAC AAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01109.hp2 HG01167.hp1 others(21): Show HG00544.hp1 HG01109.hp2 HG01167.hp1 HG01243.hp2 HG02056.hp2 HG02486.hp2 HG02717.hp1 HG02818.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18942.hp2 NA18960.hp1 NA18981.hp1 NA19078.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 a0001c0003t0002 a0001c0006t0001	a0001c0001t0001g0134 a0001c0001t0002g0059 a0001c0001t0002g0060 others(18): Show a0001c0001t0001g0134 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0131 a0001c0001t0002g0145 a0001c0001t0006g0130 a0001c0002t0002g0005 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0003t0002g0037 a0001c0003t0002g0040 a0001c0003t0002g0041 a0001c0003t0002g0042 a0001c0003t0002g0044 a0001c0003t0002g0117 a0001c0006t0001g0133	24	242	0.0992	2	c.43 others(13): Show c.4327_*4328insAC	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding		3819		chr12	TogoVar
ACTR6_chr12_100195815_100229424	100228606	G G	GAA GAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02257.hp1 HG02559.hp2 others(2): Show HG02080.hp2 HG02257.hp1 HG02559.hp2 HG02683.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0001 a0001c0001t0001g0147 a0001c0001t0001g0148	5	242	0.0207	2	c.46 others(13): Show c.4691_*4692insAA	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding		4183		chr12	TogoVar
ACTR8_chr3_53862066_53887152	53863805	T T	TCA TCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG01515.hp1 others(1): Show HG00741.hp2 HG01069.hp2 HG01515.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0029 a0001c0001t0002g0067 a0001c0001t0005g0072 a0001c0001t0002g0029 a0001c0001t0002g0067 a0001c0001t0005g0072	4	432	0.0093	2	c.49 others(13): Show c.4912_*4913dupTG	ACTR8	ENSG00000113812.14	transcript	ENST00000335754.8	protein_coding		3260		chr3	TogoVar
ACTRT1_chrX_128045962_128057403	128048330	T T	TGA TGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	285	0.0035	2	c.27 others(13): Show c.2745_*2746insTC	ACTRT1	ENSG00000123165.9	transcript	ENST00000371124.5	protein_coding		2631		chrX	TogoVar
ACTRT1_chrX_128045962_128057403	128048338	A A	AGT AGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	285	0.0035	2	c.27 others(13): Show c.2737_*2738insAC	ACTRT1	ENSG00000123165.9	transcript	ENST00000371124.5	protein_coding		2623		chrX	TogoVar
ACTRT1_chrX_128045962_128057403	128056493	A A	ATT ATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG01071.hp2 others(4): Show HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp1 HG02723.hp1 NA19043.hp1 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0004c0003t0001 a0001c0001t0001 a0001c0001t0002 a0004c0003t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0004c0003t0001g0000 a0001c0001t0001g0000 a0001c0001t0002g0000 a0004c0003t0001g0000	7	285	0.0246	2	c.-42 others(13): Show c.-4288_-4287insAA	ACTRT1	ENSG00000123165.9	transcript	ENST00000371124.5	protein_coding		4091		chrX	TogoVar
ACTRT2_chr1_3016467_3027903	3027626	C C	CGG CGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(90): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00735.hp1 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02683.hp1 HG02723.hp1 HG02738.hp2 HG02886.hp2 HG02970.hp1 HG03225.hp1 HG03486.hp2 HG03579.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18943.hp1 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18959.hp2 NA18966.hp2 NA18972.hp2 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18990.hp1 NA18991.hp1 NA18997.hp1 NA18997.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19060.hp1 NA19066.hp2 NA19068.hp1 NA19077.hp1 NA19079.hp2 NA19085.hp1 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0003c0013 others(1): Show a0001c0001 a0003c0003 a0003c0013 a0004c0005	a0001c0001t0001 a0001c0001t0007 a0003c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0007 a0003c0003t0001 a0003c0013t0001 a0004c0005t0001	a0001c0001t0001g0000 a0001c0001t0007g0000 a0003c0003t0001g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0007g0000 a0003c0003t0001g0000 a0003c0013t0001g0000 a0004c0005t0001g0000	93	366	0.2541	2	c.48 others(13): Show c.4806_*4807insGG	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4724		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169768527	A A	ATT ATT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01167.hp2 HG02451.hp2 others(6): Show HG00544.hp2 HG01167.hp2 HG02451.hp2 HG02622.hp1 HG02818.hp1 HG02965.hp1 HG03130.hp2 HG03471.hp2 NA19030.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0008c0008	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0008c0008t0001	a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0042 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0042 a0002c0002t0001g0047 a0002c0004t0001g0012 a0008c0008t0001g0018	9	418	0.0215	2	c.201 others(17): Show c.201-179_201-178dupAA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding	1/1			chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771329	A A	AAT AAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00544.hp2 others(51): Show HG00099.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00673.hp2 HG01109.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01943.hp1 HG01981.hp2 HG01993.hp1 HG02055.hp2 HG02132.hp1 HG02155.hp1 HG02258.hp2 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp2 HG03486.hp2 HG03490.hp2 HG03710.hp1 HG03834.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18963.hp2 NA18965.hp1 NA18969.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18989.hp1 NA18992.hp1 NA18998.hp2 NA19001.hp2 NA19007.hp1 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19066.hp2 NA19083.hp2 NA19090.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0008c0008	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0004 a0002c0004t0001 a0003c0003t0001 a0008c0008t0001	a0001c0001t0001g0001 a0001c0001t0003g0010 a0002c0002t0001g0004 others(8): Show a0001c0001t0001g0001 a0001c0001t0003g0010 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0004g0031 a0002c0004t0001g0012 a0002c0004t0001g0032 a0003c0003t0001g0007 a0003c0003t0001g0021 a0003c0003t0001g0046 a0008c0008t0001g0018	54	418	0.1292	2	c.-18 others(13): Show c.-1810_-1809insAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1769		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771340	T T	TTA TTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00544.hp2 others(74): Show HG00099.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00673.hp2 HG01109.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01943.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02055.hp2 HG02132.hp1 HG02155.hp1 HG02258.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp2 HG03486.hp2 HG03490.hp2 HG03710.hp1 HG03834.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18963.hp2 NA18965.hp1 NA18969.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18988.hp2 NA18989.hp1 NA18992.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19064.hp2 NA19066.hp2 NA19077.hp1 NA19083.hp2 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0008 a0009	a0001c0001 a0002c0002 a0002c0004 others(4): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0007c0009 a0008c0008 a0009c0007	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0004 a0002c0004t0001 a0003c0003t0001 a0007c0009t0001 a0008c0008t0001 a0009c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0027 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0003g0010 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0004g0031 a0002c0004t0001g0012 a0002c0004t0001g0032 a0003c0003t0001g0007 a0003c0003t0001g0021 a0003c0003t0001g0046 a0007c0009t0001g0040 a0008c0008t0001g0018 a0009c0007t0001g0039	77	418	0.1842	2	c.-18 others(13): Show c.-1821_-1820insTA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1780		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771356	A A	AAT AAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00673.hp2 others(50): Show HG00099.hp2 HG00544.hp2 HG00673.hp2 HG01109.hp1 HG01358.hp2 HG01981.hp2 HG02132.hp1 HG02155.hp1 HG02257.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03710.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18963.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18988.hp2 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19011.hp1 NA19030.hp1 NA19054.hp1 NA19057.hp1 NA19066.hp2 NA19077.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA21309.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0008c0008 a0009c0007	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0004 a0002c0004t0001 a0008c0008t0001 a0009c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0027 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0003g0010 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0047 a0002c0002t0004g0031 a0002c0004t0001g0012 a0002c0004t0001g0032 a0008c0008t0001g0018 a0009c0007t0001g0039	53	418	0.1268	2	c.-18 others(13): Show c.-1837_-1836insAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1796		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771429	T T	TTA TTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp2 others(219): Show HG00099.hp1 HG00099.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18992.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0008 a0009	a0001c0001 a0002c0002 a0002c0004 others(4): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0007c0009 a0008c0008 a0009c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0004 a0002c0004t0001 a0003c0003t0001 a0007c0009t0001 a0008c0008t0001 a0009c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0002g0006 a0001c0001t0002g0030 a0001c0001t0003g0010 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0037 a0002c0002t0001g0047 a0002c0002t0004g0031 a0002c0004t0001g0012 a0002c0004t0001g0032 a0003c0003t0001g0007 a0003c0003t0001g0009 a0003c0003t0001g0021 a0003c0003t0001g0046 a0007c0009t0001g0040 a0008c0008t0001g0018 a0009c0007t0001g0039	222	418	0.5311	2	c.-19 others(13): Show c.-1910_-1909insTA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1869		chr3	TogoVar
ACVR1B_chr12_51946699_52002078	51977783	A A	ATT ATT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01175.hp2 HG02572.hp1 others(4): Show HG01106.hp1 HG01175.hp2 HG02572.hp1 HG02896.hp1 HG02897.hp1 HG03195.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0004t0013 a0001c0001t0001 a0001c0001t0003 a0001c0004t0013	a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0003g0137 others(3): Show a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0003g0137 a0001c0001t0003g0139 a0001c0004t0013g0028 a0001c0004t0013g0261	7	324	0.0216	2	c.580 others(19): Show c.580+1230_580+1231dupTT	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51979163	C C	CAA CAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02055.hp2 others(9): Show HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02080.hp2 HG02129.hp2 HG02258.hp2 HG02647.hp1 HG03453.hp2 HG03579.hp2 HG03942.hp1 NA18987.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012	a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0053 others(9): Show a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0099 a0001c0001t0003g0148 a0001c0001t0003g0167 a0001c0001t0004g0286 a0001c0001t0006g0154 a0001c0001t0007g0115 a0001c0001t0010g0073 a0001c0001t0012g0153	12	324	0.0370	2	c.581 others(19): Show c.581-1787_581-1786dupAA	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51979466	C C	CAA CAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01168.hp2 HG01175.hp2 others(4): Show HG01106.hp1 HG01168.hp2 HG01175.hp2 HG01496.hp2 HG03017.hp1 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0001 a0001c0001t0029	a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 others(4): Show a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0029g0271	7	324	0.0216	2	c.581 others(19): Show c.581-1487_581-1486dupAA	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51990312	C C	CTT CTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00544.hp2 others(51): Show HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00741.hp2 HG01109.hp2 HG01123.hp2 HG01169.hp2 HG01255.hp1 HG01934.hp2 HG01978.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02683.hp1 HG02698.hp2 HG03516.hp1 HG03516.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 NA18940.hp2 NA18946.hp1 NA18946.hp2 NA18953.hp2 NA18970.hp2 NA18972.hp2 NA18974.hp2 NA18978.hp1 NA18987.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19011.hp2 NA19012.hp1 NA19058.hp1 NA19060.hp1 NA19076.hp2 NA19083.hp1 NA19083.hp2 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0007t0002	a0001c0001t0001g0041 a0001c0001t0001g0141 a0001c0001t0001g0189 others(50): Show a0001c0001t0001g0041 a0001c0001t0001g0141 a0001c0001t0001g0189 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0240 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0052 a0001c0001t0002g0056 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0076 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0003g0139 a0001c0001t0003g0143 a0001c0001t0003g0168 a0001c0001t0004g0163 a0001c0001t0004g0170 a0001c0001t0004g0274 a0001c0001t0005g0007 a0001c0001t0006g0266 a0001c0001t0007g0123 a0001c0001t0008g0233 a0001c0001t0011g0147 a0001c0001t0014g0039 a0001c0001t0023g0242 a0001c0001t0025g0277 a0001c0001t0027g0269 a0001c0007t0002g0079	54	324	0.1667	2	c.126 others(21): Show c.1262-1530_1262-1529dupTT	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51993765	T T	TAA TAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp1 HG01071.hp1 others(9): Show HG00438.hp1 HG00735.hp1 HG01071.hp1 HG01109.hp2 HG01192.hp1 HG01928.hp1 HG02080.hp2 HG02129.hp2 HG03490.hp2 HG03704.hp1 NA19090.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010	a0001c0001t0002g0048 a0001c0001t0002g0056 a0001c0001t0002g0060 others(9): Show a0001c0001t0002g0048 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0064 a0001c0001t0002g0074 a0001c0001t0002g0083 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0005g0046 a0001c0001t0010g0066 a0001c0001t0010g0073	12	324	0.0370	2	c.139 others(19): Show c.1393-182_1393-181dupAA	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR1B_chr12_51946699_52002078	52001369	C C	CAA CAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(101): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01192.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01891.hp1 HG01978.hp2 HG01993.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03654.hp1 HG03704.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18747.hp1 NA18939.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18972.hp1 NA18974.hp1 NA18983.hp2 NA18990.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19070.hp1 NA19076.hp2 NA19082.hp1 NA19082.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0002t0002 a0001c0002t0019	a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(89): Show a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0121 a0001c0001t0001g0141 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0002g0034 a0001c0001t0002g0107 a0001c0001t0002g0184 a0001c0001t0002g0282 a0001c0001t0004g0163 a0001c0001t0004g0170 a0001c0001t0004g0272 a0001c0001t0006g0154 a0001c0001t0006g0185 a0001c0001t0006g0266 a0001c0001t0008g0001 a0001c0001t0008g0207 a0001c0001t0008g0232 a0001c0001t0008g0233 a0001c0001t0012g0153 a0001c0001t0014g0038 a0001c0001t0014g0039 a0001c0001t0017g0027 a0001c0001t0024g0217 a0001c0001t0027g0269 a0001c0001t0028g0209 a0001c0002t0002g0004 a0001c0002t0002g0127 a0001c0002t0019g0004	104	324	0.3210	2	c.72 others(13): Show c.7259_*7260insAA	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding		4292		chr12	TogoVar
ACVR1C_chr2_157521767_157633864	157535143	C C	CAA CAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01261.hp2 HG02145.hp2 others(4): Show HG00639.hp2 HG01261.hp2 HG02145.hp2 HG02683.hp1 HG02738.hp2 HG03927.hp2 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0003 a0001c0001t0030 a0001c0002t0003 others(2): Show a0001c0001t0003 a0001c0001t0030 a0001c0002t0003 a0001c0002t0018 a0001c0012t0003	a0001c0001t0003g0153 a0001c0001t0003g0171 a0001c0001t0003g0179 others(4): Show a0001c0001t0003g0153 a0001c0001t0003g0171 a0001c0001t0003g0179 a0001c0001t0030g0098 a0001c0002t0003g0133 a0001c0002t0018g0061 a0001c0012t0003g0051	7	216	0.0324	2	c.135 others(21): Show c.1357-1102_1357-1101dupTT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	8/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157554283	G G	GGA GGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02280.hp2 others(13): Show HG02109.hp2 HG02145.hp2 HG02280.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03486.hp2 HG06807.hp1 NA19062.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0012 a0002c0003 others(1): Show a0001c0002 a0001c0012 a0002c0003 a0002c0013	a0001c0002t0001 a0001c0002t0003 a0001c0002t0014 others(8): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0014 a0001c0002t0028 a0001c0012t0003 a0002c0003t0002 a0002c0003t0005 a0002c0003t0008 a0002c0003t0009 a0002c0003t0021 a0002c0013t0010	a0001c0002t0001g0030 a0001c0002t0003g0093 a0001c0002t0014g0049 others(13): Show a0001c0002t0001g0030 a0001c0002t0003g0093 a0001c0002t0014g0049 a0001c0002t0028g0048 a0001c0012t0003g0051 a0002c0003t0002g0010 a0002c0003t0005g0008 a0002c0003t0005g0076 a0002c0003t0005g0077 a0002c0003t0005g0078 a0002c0003t0005g0079 a0002c0003t0008g0012 a0002c0003t0008g0028 a0002c0003t0009g0025 a0002c0003t0021g0096 a0002c0013t0010g0052	16	216	0.0741	2	c.544 others(19): Show c.544+1809_544+1810insTC	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157554908	G G	GAT GAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18998.hp2 HG02886.hp2 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0013 a0001c0002t0001 a0002c0003t0013	a0001c0002t0001g0119 a0002c0003t0013g0050 a0001c0002t0001g0119 a0002c0003t0013g0050	2	216	0.0093	2	c.544 others(19): Show c.544+1183_544+1184dupAT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157588236	T T	TAC TAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG03239.hp2 others(4): Show HG01884.hp1 HG02280.hp1 HG03239.hp2 HG03471.hp1 HG03579.hp2 NA18522.hp2 NA18988.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0002t0001 a0002c0004t0010	a0001c0001t0001g0210 a0001c0001t0004g0184 a0001c0001t0005g0213 others(4): Show a0001c0001t0001g0210 a0001c0001t0004g0184 a0001c0001t0005g0213 a0001c0001t0012g0191 a0001c0001t0012g0192 a0001c0002t0001g0101 a0002c0004t0010g0190	7	216	0.0324	2	c.74- others(15): Show c.74-821_74-820dupGT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	1/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157588848	C C	CAT CAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG00741.hp2 others(29): Show HG00558.hp2 HG00621.hp2 HG00741.hp2 HG01074.hp1 HG01168.hp2 HG01169.hp1 HG01358.hp1 HG01361.hp1 HG01891.hp2 HG01978.hp2 HG02145.hp2 HG02273.hp2 HG02559.hp2 HG02809.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG03654.hp2 HG03834.hp2 NA18747.hp2 NA18949.hp1 NA18949.hp2 NA18974.hp2 NA18988.hp1 NA19002.hp1 NA19009.hp2 NA19064.hp1 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0010 others(3): Show a0001c0001 a0001c0002 a0001c0010 a0001c0012 a0002c0004 a0002c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0035 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0016 a0001c0010t0004 a0001c0012t0003 a0002c0004t0002 a0002c0004t0006 a0002c0013t0010	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0019 others(29): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0159 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0003g0176 a0001c0001t0003g0212 a0001c0001t0004g0139 a0001c0001t0035g0142 a0001c0002t0001g0044 a0001c0002t0001g0075 a0001c0002t0001g0085 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0136 a0001c0002t0001g0208 a0001c0002t0003g0133 a0001c0002t0004g0114 a0001c0002t0004g0134 a0001c0002t0004g0138 a0001c0002t0016g0037 a0001c0010t0004g0126 a0001c0012t0003g0051 a0002c0004t0002g0204 a0002c0004t0006g0160 a0002c0013t0010g0052	32	216	0.1482	2	c.74- others(17): Show c.74-1433_74-1432dupAT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	1/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157617778	G G	GAT GAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp2 HG03130.hp2 HG02145.hp2 HG02559.hp2 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0012 a0002c0013 a0001c0002 a0001c0012 a0002c0013	a0001c0002t0001 a0001c0012t0003 a0002c0013t0010 a0001c0002t0001 a0001c0012t0003 a0002c0013t0010	a0001c0002t0001g0075 a0001c0012t0003g0051 a0002c0013t0010g0052 a0001c0002t0001g0075 a0001c0012t0003g0051 a0002c0013t0010g0052	3	216	0.0139	2	c.73+ others(19): Show c.73+10792_73+10793dupAT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	1/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157629587	T T	TAC TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG00642.hp1 others(46): Show HG00558.hp1 HG00621.hp2 HG00642.hp1 HG00741.hp1 HG01074.hp1 HG01106.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01361.hp2 HG01433.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02818.hp2 HG03041.hp1 HG03130.hp2 HG03239.hp2 HG03579.hp1 HG03654.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04228.hp2 NA18747.hp1 NA18949.hp1 NA18990.hp2 NA18998.hp2 NA19064.hp1 NA19064.hp2 NA19084.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(4): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0002c0003 a0002c0008 a0002c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0034 a0001c0001t0036 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0018 a0001c0002t0023 a0001c0002t0024 a0001c0009t0011 a0001c0010t0004 a0002c0003t0002 a0002c0003t0014 a0002c0003t0017 a0002c0008t0002 a0002c0013t0010	a0001c0001t0001g0003 a0001c0001t0001g0143 a0001c0001t0001g0145 others(46): Show a0001c0001t0001g0003 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0154 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0003g0162 a0001c0001t0003g0179 a0001c0001t0003g0209 a0001c0001t0003g0212 a0001c0001t0004g0170 a0001c0001t0005g0149 a0001c0001t0005g0213 a0001c0001t0034g0144 a0001c0001t0036g0185 a0001c0002t0001g0032 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0047 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0136 a0001c0002t0003g0059 a0001c0002t0003g0111 a0001c0002t0005g0095 a0001c0002t0018g0061 a0001c0002t0023g0007 a0001c0002t0024g0108 a0001c0009t0011g0158 a0001c0010t0004g0126 a0002c0003t0002g0022 a0002c0003t0002g0039 a0002c0003t0002g0040 a0002c0003t0002g0043 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0060 a0002c0003t0002g0120 a0002c0003t0002g0124 a0002c0003t0002g0131 a0002c0003t0014g0086 a0002c0003t0017g0215 a0002c0008t0002g0106 a0002c0013t0010g0052	49	216	0.2269	2	c.-94 others(11): Show c.-944_-943insGT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding		724		chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157630594	C C	CAA CAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02886.hp2 HG02897.hp2 others(6): Show HG01243.hp2 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03209.hp2 HG03516.hp1 HG06807.hp2 NA18747.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0029 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0029 a0001c0002t0004 a0002c0003t0009 a0002c0003t0013	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 others(6): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0007g0161 a0001c0001t0029g0014 a0001c0002t0004g0138 a0002c0003t0009g0036 a0002c0003t0013g0050	9	216	0.0417	2	c.-19 others(13): Show c.-1951_-1950insTT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding		1731		chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157630902	C C	CAA CAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00558.hp2 others(70): Show HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00741.hp2 HG01074.hp1 HG01106.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01361.hp2 HG01433.hp1 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02080.hp1 HG02109.hp2 HG02145.hp2 HG02273.hp1 HG02273.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18949.hp1 NA18974.hp2 NA18988.hp1 NA18988.hp2 NA19009.hp1 NA19009.hp2 NA19062.hp2 NA19064.hp1 NA19076.hp1 NA19077.hp1 NA19084.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0010 others(6): Show a0001c0001 a0001c0002 a0001c0010 a0001c0012 a0002c0003 a0002c0004 a0002c0005 a0002c0011 a0002c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0034 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0010t0004 a0001c0012t0003 a0002c0003t0002 a0002c0003t0005 a0002c0003t0006 a0002c0003t0008 a0002c0003t0009 a0002c0003t0010 a0002c0003t0013 a0002c0003t0014 a0002c0003t0026 a0002c0004t0002 a0002c0004t0010 a0002c0005t0008 a0002c0005t0009 a0002c0011t0002 a0002c0013t0010	a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 others(70): Show a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0003g0163 a0001c0001t0004g0184 a0001c0001t0005g0164 a0001c0001t0007g0161 a0001c0001t0011g0166 a0001c0001t0034g0144 a0001c0002t0001g0030 a0001c0002t0001g0044 a0001c0002t0001g0075 a0001c0002t0001g0085 a0001c0002t0001g0094 a0001c0002t0001g0101 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0132 a0001c0002t0001g0136 a0001c0002t0001g0202 a0001c0002t0003g0093 a0001c0002t0003g0115 a0001c0002t0003g0133 a0001c0002t0004g0114 a0001c0002t0004g0125 a0001c0002t0004g0130 a0001c0002t0004g0134 a0001c0002t0004g0137 a0001c0002t0004g0138 a0001c0010t0004g0126 a0001c0012t0003g0051 a0002c0003t0002g0010 a0002c0003t0002g0023 a0002c0003t0002g0024 a0002c0003t0002g0039 a0002c0003t0002g0040 a0002c0003t0002g0043 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0057 a0002c0003t0002g0120 a0002c0003t0002g0124 a0002c0003t0002g0131 a0002c0003t0005g0008 a0002c0003t0005g0076 a0002c0003t0005g0077 a0002c0003t0005g0078 a0002c0003t0005g0079 a0002c0003t0006g0081 a0002c0003t0008g0012 a0002c0003t0008g0028 a0002c0003t0009g0025 a0002c0003t0009g0026 a0002c0003t0010g0031 a0002c0003t0013g0050 a0002c0003t0014g0086 a0002c0003t0026g0107 a0002c0004t0002g0099 a0002c0004t0002g0100 a0002c0004t0010g0190 a0002c0005t0008g0004 a0002c0005t0008g0005 a0002c0005t0009g0009 a0002c0011t0002g0011 a0002c0013t0010g0052	73	216	0.3380	2	c.-22 others(13): Show c.-2259_-2258insTT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding		2039		chr2	TogoVar
ACVR1_chr2_157731446_157881330	157739632	G G	GAC GAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show HG02257.hp1 HG02922.hp1 HG03098.hp1 HG03209.hp2 HG03516.hp1 HG03540.hp1 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0009 a0001c0004t0021 a0001c0004t0008 a0001c0004t0009 a0001c0004t0021	a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 a0001c0004t0009g0083 a0001c0004t0009g0161 a0001c0004t0009g0162 a0001c0004t0021g0171	7	174	0.0402	2	c.126 others(21): Show c.1265-1063_1265-1062insGT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	9/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157756973	T T	TTA TTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02145.hp2 others(6): Show HG01891.hp2 HG02055.hp2 HG02145.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02976.hp1 HG03225.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0002t0011	a0001c0001t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0025 others(6): Show a0001c0001t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0032 a0001c0002t0001g0107 a0001c0002t0001g0134 a0001c0002t0004g0173 a0001c0002t0011g0009	9	174	0.0517	2	c.126 others(21): Show c.1264+3905_1264+3906dupTA	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	9/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157757021	G G	GAT GAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02647.hp1 HG02922.hp2 others(5): Show HG02132.hp2 HG02647.hp1 HG02922.hp2 HG02965.hp2 HG03486.hp1 HG03927.hp1 NA18946.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0002t0001 a0001c0002t0020 a0001c0003t0001 a0001c0003t0004	a0001c0001t0001g0114 a0001c0001t0002g0039 a0001c0001t0012g0012 others(5): Show a0001c0001t0001g0114 a0001c0001t0002g0039 a0001c0001t0012g0012 a0001c0002t0001g0028 a0001c0002t0020g0163 a0001c0003t0001g0136 a0001c0003t0001g0139 a0001c0003t0004g0168	8	174	0.0460	2	c.126 others(21): Show c.1264+3857_1264+3858dupAT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	9/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157795377	A A	AAC AAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02647.hp2 HG02698.hp1 others(1): Show HG01074.hp1 HG02647.hp2 HG02698.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0002t0010	a0001c0001t0001g0020 a0001c0002t0001g0025 a0001c0002t0005g0006 others(1): Show a0001c0001t0001g0020 a0001c0002t0001g0025 a0001c0002t0005g0006 a0001c0002t0010g0008	4	174	0.0230	2	c.67+ others(17): Show c.67+4048_67+4049dupGT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	3/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157799371	C C	CAA CAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(106): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00735.hp2 HG01074.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02698.hp2 HG02717.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA19030.hp1 NA19043.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19088.hp1 NA19088.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0011 a0001c0002t0015 a0001c0003t0003 a0001c0003t0019 a0001c0004t0008 a0001c0004t0009 a0001c0004t0021 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0005t0005	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(106): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0002g0013 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0086 a0001c0001t0002g0092 a0001c0001t0002g0097 a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0141 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0007g0076 a0001c0001t0007g0112 a0001c0001t0010g0003 a0001c0001t0012g0011 a0001c0001t0012g0012 a0001c0001t0013g0165 a0001c0001t0013g0166 a0001c0001t0014g0087 a0001c0001t0016g0152 a0001c0002t0001g0032 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0134 a0001c0002t0001g0142 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0002g0061 a0001c0002t0002g0075 a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0003g0130 a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0003g0155 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0004g0173 a0001c0002t0005g0001 a0001c0002t0005g0002 a0001c0002t0011g0009 a0001c0002t0011g0010 a0001c0002t0015g0096 a0001c0003t0003g0144 a0001c0003t0019g0143 a0001c0004t0008g0110 a0001c0004t0008g0111 a0001c0004t0009g0083 a0001c0004t0009g0161 a0001c0004t0009g0162 a0001c0004t0021g0171 a0001c0005t0001g0064 a0001c0005t0001g0072 a0001c0005t0001g0123 a0001c0005t0003g0138 a0001c0005t0004g0174 a0001c0005t0005g0004	109	174	0.6264	2	c.67+ others(13): Show c.67+54_67+55dupTT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	3/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157807854	T T	TGG TGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02055.hp1 HG02055.hp2 others(19): Show HG00735.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02486.hp1 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03927.hp1 NA18956.hp1 NA18956.hp2 NA18965.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0002t0001 a0001c0002t0004 a0001c0002t0011 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0004t0008 a0001c0006t0006	a0001c0001t0001g0079 a0001c0001t0001g0116 a0001c0001t0002g0043 others(19): Show a0001c0001t0001g0079 a0001c0001t0001g0116 a0001c0001t0002g0043 a0001c0001t0004g0164 a0001c0001t0012g0012 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0098 a0001c0002t0001g0146 a0001c0002t0004g0169 a0001c0002t0004g0173 a0001c0002t0011g0009 a0001c0002t0011g0010 a0001c0003t0001g0104 a0001c0003t0004g0167 a0001c0003t0005g0005 a0001c0004t0008g0110 a0001c0004t0008g0111 a0001c0006t0006g0121	22	174	0.1264	2	c.-7- others(17): Show c.-7-8356_-7-8355dupCC	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	2/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157828449	C C	CAA CAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(95): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02559.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04228.hp2 HG06807.hp1 NA18942.hp1 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA19030.hp1 NA19043.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19088.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0015 a0001c0002t0017 a0001c0002t0020 a0001c0003t0001 a0001c0003t0003 a0001c0004t0008 a0001c0004t0009 a0001c0004t0021 a0001c0005t0001 a0001c0005t0004 a0001c0005t0005	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(95): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0002g0013 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0086 a0001c0001t0002g0092 a0001c0001t0002g0097 a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0141 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0004g0164 a0001c0001t0007g0076 a0001c0001t0010g0003 a0001c0001t0013g0165 a0001c0001t0013g0166 a0001c0001t0016g0152 a0001c0002t0001g0032 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0134 a0001c0002t0001g0142 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0002g0061 a0001c0002t0002g0075 a0001c0002t0003g0015 a0001c0002t0003g0094 a0001c0002t0003g0130 a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0159 a0001c0002t0004g0173 a0001c0002t0005g0001 a0001c0002t0005g0002 a0001c0002t0007g0063 a0001c0002t0015g0096 a0001c0002t0017g0122 a0001c0002t0020g0163 a0001c0003t0001g0023 a0001c0003t0003g0144 a0001c0004t0008g0110 a0001c0004t0008g0111 a0001c0004t0009g0162 a0001c0004t0021g0171 a0001c0005t0001g0064 a0001c0005t0001g0072 a0001c0005t0001g0123 a0001c0005t0004g0174 a0001c0005t0005g0004	98	174	0.5632	2	c.-18 others(21): Show c.-182-9892_-182-9891dupTT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157842026	C C	CAA CAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02004.hp1 HG02145.hp2 others(10): Show HG00735.hp1 HG02004.hp1 HG02145.hp2 HG02970.hp2 HG03516.hp2 HG03540.hp2 HG03927.hp2 NA18978.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19075.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0004 a0001c0001t0013 a0001c0002t0001 others(5): Show a0001c0001t0004 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0015 a0001c0005t0003 a0001c0005t0004	a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(10): Show a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 a0001c0002t0001g0027 a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0002t0001g0125 a0001c0002t0001g0146 a0001c0002t0003g0130 a0001c0002t0004g0172 a0001c0002t0015g0096 a0001c0005t0003g0138 a0001c0005t0004g0174	13	174	0.0747	2	c.-18 others(23): Show c.-182-23469_-182-23468dupTT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157851906	C C	CCA CCA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02895.hp1 others(2): Show HG02486.hp2 HG02559.hp1 HG02895.hp1 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0002t0015 a0001c0003t0001 others(2): Show a0001c0002t0001 a0001c0002t0015 a0001c0003t0001 a0001c0003t0003 a0001c0004t0009	a0001c0002t0001g0145 a0001c0002t0015g0096 a0001c0003t0001g0023 others(2): Show a0001c0002t0001g0145 a0001c0002t0015g0096 a0001c0003t0001g0023 a0001c0003t0003g0144 a0001c0004t0009g0161	5	174	0.0287	2	c.-18 others(23): Show c.-183+23889_-183+23890insTG	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157855269	A A	AGT AGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02109.hp2 HG02451.hp1 others(1): Show HG00735.hp2 HG02109.hp2 HG02451.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0012 a0001c0003t0001 a0001c0001t0002 a0001c0001t0012 a0001c0003t0001	a0001c0001t0002g0049 a0001c0001t0012g0012 a0001c0003t0001g0014 others(1): Show a0001c0001t0002g0049 a0001c0001t0012g0012 a0001c0003t0001g0014 a0001c0003t0001g0021	4	174	0.0230	2	c.-18 others(23): Show c.-183+20525_-183+20526dupAC	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157855319	T T	TAC TAC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01255.hp1 HG02004.hp2 others(16): Show HG01168.hp1 HG01255.hp1 HG02004.hp2 HG02074.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02895.hp2 HG02897.hp2 HG03225.hp1 HG03704.hp2 NA18946.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18980.hp1 NA19088.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0005t0001	a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0054 others(16): Show a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0079 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0081 a0001c0001t0002g0118 a0001c0001t0002g0141 a0001c0001t0002g0153 a0001c0001t0012g0011 a0001c0002t0001g0066 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0002g0075 a0001c0005t0001g0064 a0001c0005t0001g0072	19	174	0.1092	2	c.-18 others(23): Show c.-183+20476_-183+20477insGT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157862422	T T	TAC TAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02451.hp1 others(4): Show HG01884.hp2 HG01891.hp2 HG02451.hp1 HG02717.hp1 HG02922.hp2 HG03453.hp2 NA19075.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0003t0001 a0001c0005t0004	a0001c0002t0001g0101 a0001c0002t0001g0134 a0001c0002t0003g0135 others(4): Show a0001c0002t0001g0101 a0001c0002t0001g0134 a0001c0002t0003g0135 a0001c0002t0005g0002 a0001c0003t0001g0021 a0001c0003t0001g0136 a0001c0005t0004g0174	7	174	0.0402	2	c.-18 others(23): Show c.-183+13372_-183+13373dupGT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157866444	C C	CGG CGG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02080.hp2 HG02135.hp1 others(10): Show HG01169.hp2 HG02080.hp2 HG02135.hp1 HG02257.hp1 HG02486.hp1 HG02559.hp2 HG02717.hp2 HG03098.hp1 HG03225.hp2 HG03540.hp1 NA18946.hp1 NA18963.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0004t0008	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 others(10): Show a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0002g0113 a0001c0001t0007g0112 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0107 a0001c0002t0002g0147 a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111	13	174	0.0747	2	c.-18 others(21): Show c.-183+9350_-183+9351dupCC	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157878760	A A	AGT AGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01261.hp2 HG02717.hp1 others(4): Show HG01074.hp1 HG01261.hp2 HG02717.hp1 HG02809.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0002t0003 a0001c0002t0010 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0010 a0001c0006t0006	a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 others(4): Show a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0003g0159 a0001c0002t0010g0008 a0001c0006t0006g0022	7	174	0.0402	2	c.-31 others(13): Show c.-3149_-3148dupAC	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding		2431		chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147844975	C C	CTT CTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(90): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01123.hp1 HG01256.hp2 HG01358.hp1 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02083.hp1 HG02129.hp2 HG02155.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp2 HG02602.hp2 HG02698.hp1 HG02738.hp1 HG03017.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18969.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19068.hp2 NA19075.hp2 NA19077.hp1 NA19085.hp1 NA19088.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0005 a0002c0006 others(1): Show a0001c0002 a0001c0005 a0002c0006 a0003c0007	a0001c0002t0001 a0001c0002t0006 a0001c0002t0012 others(7): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0012 a0001c0002t0013 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0005t0001 a0002c0006t0011 a0003c0007t0001	a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 others(90): Show a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0028 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0127 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0006g0004 a0001c0002t0006g0005 a0001c0002t0006g0021 a0001c0002t0006g0082 a0001c0002t0006g0083 a0001c0002t0006g0084 a0001c0002t0006g0091 a0001c0002t0012g0007 a0001c0002t0013g0007 a0001c0002t0025g0044 a0001c0002t0026g0102 a0001c0002t0027g0039 a0001c0005t0001g0008 a0002c0006t0011g0086 a0003c0007t0001g0088	93	338	0.2752	2	c.-17 others(11): Show c.-178_-177insTT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		53		chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147845000	G G	GTT GTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01109.hp1 HG01123.hp2 others(16): Show HG00738.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp2 HG02004.hp2 HG02258.hp2 HG02486.hp1 HG02683.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp2 NA18984.hp2 NA18987.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0002t0006 a0001c0002t0010	a0001c0001t0002g0171 a0001c0001t0004g0014 a0001c0001t0004g0196 others(16): Show a0001c0001t0002g0171 a0001c0001t0004g0014 a0001c0001t0004g0196 a0001c0001t0004g0275 a0001c0001t0004g0285 a0001c0001t0006g0094 a0001c0002t0001g0027 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0006g0023 a0001c0002t0006g0099 a0001c0002t0010g0100	19	338	0.0562	2	c.-15 others(11): Show c.-153_-152insTT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		28		chr2	TogoVar

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