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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Select column to sort.

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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
ACTR3C_chr7_150242212_150328545	150273282	C C	CCTGA CCTGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(84): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00735.hp1 HG01255.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG02040.hp1 HG02055.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18999.hp1 NA19009.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19077.hp2 NA19086.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0008	a0001c0001 a0002c0002 a0002c0008 others(3): Show a0001c0001 a0002c0002 a0002c0008 a0003c0003 a0005c0006 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0008t0002 a0003c0003t0001 a0003c0003t0002 a0005c0006t0001 a0008c0011t0001	a0001c0001t0001g0120 a0001c0001t0002g0088 a0001c0001t0002g0160 others(80): Show a0001c0001t0001g0120 a0001c0001t0002g0088 a0001c0001t0002g0160 a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0019 a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0032 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0043 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0063 a0002c0002t0001g0113 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0142 a0002c0002t0001g0144 a0002c0002t0001g0149 a0002c0002t0001g0164 a0002c0002t0001g0168 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0180 a0002c0002t0001g0190 a0002c0002t0001g0211 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0224 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0247 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0268 a0002c0002t0001g0270 a0002c0002t0002g0002 a0002c0002t0002g0007 a0002c0002t0002g0017 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0023 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0125 a0002c0002t0002g0135 a0002c0002t0002g0143 a0002c0002t0002g0150 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0004g0132 a0002c0002t0004g0133 a0002c0008t0002g0030 a0003c0003t0001g0095 a0003c0003t0001g0136 a0003c0003t0001g0177 a0003c0003t0001g0179 a0003c0003t0001g0186 a0003c0003t0001g0189 a0003c0003t0002g0187 a0005c0006t0001g0031 a0005c0006t0001g0033 a0005c0006t0001g0034 a0008c0011t0001g0131	87	294	0.2959	4	c.564 others(23): Show c.564+11470_564+11471insTCAG	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	6/7			chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150280798	A A	ATGTG ATGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18970.hp2 NA18977.hp1 others(1): Show HG02622.hp1 NA18970.hp2 NA18977.hp1 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0204 a0001c0001t0001g0233 a0001c0001t0002g0052 others(1): Show a0001c0001t0001g0204 a0001c0001t0001g0233 a0001c0001t0002g0052 a0002c0002t0001g0270	4	294	0.0136	4	c.564 others(21): Show c.564+3951_564+3954dupCACA	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	6/7			chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150280829	T T	TATAC TATAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp2 others(41): Show HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00735.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02132.hp1 HG02135.hp1 HG02257.hp1 HG02258.hp1 HG02615.hp1 HG02735.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03491.hp1 HG03704.hp2 HG04199.hp2 NA18747.hp1 NA18906.hp1 NA18947.hp1 NA18952.hp2 NA18956.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18975.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18999.hp1 NA19009.hp1 NA19011.hp1 NA19043.hp2 NA19060.hp2 NA19063.hp2 NA19086.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0008 a0001c0001 a0002c0002 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0008t0002	a0001c0001t0001g0120 a0001c0001t0002g0160 a0002c0002t0001g0001 others(37): Show a0001c0001t0001g0120 a0001c0001t0002g0160 a0002c0002t0001g0001 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0019 a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0049 a0002c0002t0001g0063 a0002c0002t0001g0142 a0002c0002t0001g0144 a0002c0002t0001g0149 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0180 a0002c0002t0001g0190 a0002c0002t0001g0219 a0002c0002t0001g0224 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0002g0002 a0002c0002t0002g0017 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0023 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0143 a0002c0002t0002g0150 a0002c0002t0004g0132 a0002c0002t0004g0133 a0002c0008t0002g0030	44	294	0.1497	4	c.564 others(21): Show c.564+3923_564+3924insGTAT	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	6/7			chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150317072	C C	CATTT CATTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(123): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01192.hp1 HG01261.hp2 HG01358.hp1 HG01952.hp1 HG01978.hp1 HG02027.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG03834.hp2 HG03942.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18991.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19077.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0009 a0010	a0001c0001 a0002c0002 a0002c0008 others(5): Show a0001c0001 a0002c0002 a0002c0008 a0003c0003 a0005c0006 a0006c0005 a0009c0010 a0010c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0008t0002 a0003c0003t0001 a0005c0006t0001 a0006c0005t0001 a0006c0005t0002 a0009c0010t0001 a0010c0009t0002	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0018 others(121): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0120 a0001c0001t0001g0137 a0001c0001t0001g0267 a0001c0001t0001g0274 a0001c0001t0002g0061 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0107 a0001c0001t0003g0056 a0001c0001t0003g0066 a0001c0001t0003g0068 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0019 a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0032 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0043 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0063 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0268 a0002c0002t0002g0002 a0002c0002t0002g0007 a0002c0002t0002g0017 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0023 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0047 a0002c0002t0002g0112 a0002c0002t0002g0125 a0002c0002t0006g0287 a0002c0008t0002g0030 a0003c0003t0001g0095 a0005c0006t0001g0031 a0005c0006t0001g0033 a0005c0006t0001g0034 a0006c0005t0001g0138 a0006c0005t0002g0110 a0006c0005t0002g0111 a0009c0010t0001g0040 a0010c0009t0002g0076	126	294	0.4286	4	c.-52 others(21): Show c.-52+6393_-52+6396dupAAAT	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	1/7			chr7	TogoVar
ACTR3_chr2_113885089_113967596	113890072	A A	ACTGC ACTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG00741.hp1 others(3): Show HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01256.hp2 HG01258.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0225 a0001c0001t0006g0226 others(1): Show a0001c0001t0006g0006 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0006g0227	6	390	0.0154	4	c.-20 others(13): Show c.-208_-207insCTGC	ACTR3	ENSG00000115091.12	transcript	ENST00000263238.7	protein_coding		16		chr2	TogoVar
ACTR3_chr2_113885089_113967596	113911419	C C	CTTTT CTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02148.hp1 NA18939.hp1 others(3): Show HG01884.hp1 HG02148.hp1 NA18939.hp1 NA18968.hp2 NA18991.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 others(3): Show a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0285 a0001c0001t0001g0325	6	390	0.0154	4	c.45- others(19): Show c.45-1738_45-1735dupTTTT	ACTR3	ENSG00000115091.12	transcript	ENST00000263238.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTR3_chr2_113885089_113967596	113924887	C C	CTATT CTATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(37): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00597.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01517.hp2 HG02083.hp1 HG02129.hp2 HG02165.hp1 HG02257.hp1 HG02451.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02886.hp1 HG03017.hp2 HG03834.hp1 HG04228.hp2 NA18941.hp2 NA18986.hp1 NA19010.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19078.hp1 NA19082.hp1 NA19084.hp2 NA19240.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0009 a0001c0001t0014 others(5): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0014 a0001c0001t0019 a0001c0001t0026 a0001c0001t0029 a0001c0001t0039 a0001c0003t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0015 others(32): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0051 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0125 a0001c0001t0002g0202 a0001c0001t0009g0008 a0001c0001t0009g0059 a0001c0001t0009g0060 a0001c0001t0009g0111 a0001c0001t0014g0004 a0001c0001t0014g0097 a0001c0001t0014g0108 a0001c0001t0019g0039 a0001c0001t0026g0002 a0001c0001t0029g0095 a0001c0001t0039g0106 a0001c0003t0002g0127	40	390	0.1026	4	c.226 others(21): Show c.226-2432_226-2429dupATTT	ACTR3	ENSG00000115091.12	transcript	ENST00000263238.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTR3_chr2_113885089_113967596	113933677	A A	ATTTT ATTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG02280.hp1 others(16): Show HG01243.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02723.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp2 NA19240.hp2 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 others(1): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0024	a0001c0001t0006g0221 a0001c0001t0006g0223 a0001c0001t0006g0224 others(16): Show a0001c0001t0006g0221 a0001c0001t0006g0223 a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0007g0212 a0001c0001t0007g0213 a0001c0001t0007g0214 a0001c0001t0007g0215 a0001c0001t0007g0217 a0001c0001t0007g0218 a0001c0001t0007g0345 a0001c0001t0007g0347 a0001c0001t0007g0349 a0001c0001t0007g0350 a0001c0001t0013g0210 a0001c0001t0013g0211 a0001c0001t0013g0216 a0001c0001t0013g0219 a0001c0001t0024g0348	19	390	0.0487	4	c.433 others(19): Show c.433-585_433-582dupTTTT	ACTR3	ENSG00000115091.12	transcript	ENST00000263238.7	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTR3_chr2_113885089_113967596	113936302	C C	CAAAA CAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02622.hp2 HG02647.hp2 others(3): Show HG01243.hp1 HG02622.hp2 HG02647.hp2 HG02886.hp2 HG02895.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0013 a0001c0002t0010 a0001c0001t0010 a0001c0001t0013 a0001c0002t0010	a0001c0001t0010g0019 a0001c0001t0010g0198 a0001c0001t0010g0199 others(3): Show a0001c0001t0010g0019 a0001c0001t0010g0198 a0001c0001t0010g0199 a0001c0001t0010g0200 a0001c0001t0013g0216 a0001c0002t0010g0019	6	390	0.0154	4	c.540 others(21): Show c.540+1935_540+1938dupAAAA	ACTR3	ENSG00000115091.12	transcript	ENST00000263238.7	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTR3_chr2_113885089_113967596	113953687	T T	TACAC TACAC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19055.hp2 NA19086.hp1 NA18995.hp1 NA19055.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0288 a0001c0001t0017g0289 a0001c0001t0017g0311 a0001c0001t0017g0288 a0001c0001t0017g0289 a0001c0001t0017g0311	3	390	0.0077	4	c.107 others(23): Show c.1077+1855_1077+1858dupACAC	ACTR3	ENSG00000115091.12	transcript	ENST00000263238.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTR3_chr2_113885089_113967596	113964074	G G	GTTGA GTTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG02148.hp1 HG02300.hp2 HG01943.hp1 HG02148.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0278 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0278	3	390	0.0077	4	c.66 others(15): Show c.6619_*6620insTTGA	ACTR3	ENSG00000115091.12	transcript	ENST00000263238.7	protein_coding		1479		chr2	TogoVar
ACTR5_chr20_38743460_38777520	38745491	A A	AAAAG AAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(222): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19072.hp1 NA19078.hp1 NA19078.hp2 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0004 a0002c0002 others(4): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0003c0005 a0005c0008 a0006c0007	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0004t0001 a0002c0002t0001 a0002c0002t0002 a0002c0003t0001 a0002c0003t0005 a0003c0005t0001 a0005c0008t0001 a0006c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(80): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0006g0011 a0001c0001t0008g0037 a0001c0004t0001g0002 a0002c0002t0001g0001 a0002c0002t0001g0018 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0044 a0002c0002t0001g0100 a0002c0002t0001g0105 a0002c0002t0001g0109 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0002g0042 a0002c0002t0002g0107 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0072 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0005g0048 a0002c0003t0005g0125 a0002c0003t0005g0127 a0003c0005t0001g0035 a0003c0005t0001g0075 a0003c0005t0001g0076 a0005c0008t0001g0004 a0005c0008t0001g0056 a0006c0007t0001g0066 a0006c0007t0001g0067 a0006c0007t0001g0071	225	366	0.6148	4	c.-29 others(15): Show c.-2988_-2987insAAAG	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding		2968		chr20	TogoVar
ACTR5_chr20_38743460_38777520	38776911	T T	TTGTG TTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp1 NA18954.hp2 others(2): Show HG03491.hp2 HG03492.hp1 NA18954.hp2 NA18989.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0002c0003t0005 a0001c0001t0001 a0002c0003t0003 a0002c0003t0005	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0069 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0069 a0002c0003t0003g0132 a0002c0003t0005g0126	5	366	0.0137	4	c.50 others(15): Show c.5095_*5096insTGTG	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding		4392		chr20	TogoVar
ACTR6_chr12_100195815_100229424	100198756	T T	TACAC TACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01255.hp1 others(12): Show HG00280.hp2 HG00738.hp1 HG01255.hp1 HG01346.hp2 HG01516.hp1 HG01516.hp2 HG02080.hp2 HG02132.hp2 HG03490.hp2 HG03688.hp2 NA18952.hp1 NA18964.hp2 NA18970.hp1 NA18990.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0063 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093	15	242	0.0620	4	c.-20 others(15): Show c.-2096_-2095insACAC	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding		2058		chr12	TogoVar
ACTR6_chr12_100195815_100229424	100198806	A A	AAAAC AAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02055.hp1 others(11): Show HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0033 a0001c0001t0001g0036 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0004t0001g0047 a0001c0004t0001g0048	14	242	0.0579	4	c.-20 others(15): Show c.-2046_-2045insAAAC	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding		2008		chr12	TogoVar
ACTR6_chr12_100195815_100229424	100200509	G G	GACAC GACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01081.hp2 HG01109.hp2 others(37): Show HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01256.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG02055.hp1 HG02056.hp1 HG02129.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03516.hp1 HG03579.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG06807.hp2 NA18522.hp1 NA18971.hp2 NA19000.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0066 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0112 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0002g0131 a0001c0002t0002g0005 a0001c0002t0002g0034	40	242	0.1653	4	c.-34 others(13): Show c.-343_-342insACAC	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding		305		chr12	TogoVar
ACTR6_chr12_100195815_100229424	100202823	C C	CTCCA CTCCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02015.hp1 HG02451.hp2 others(8): Show HG01884.hp2 HG02015.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02735.hp1 HG02922.hp1 HG03130.hp1 HG03834.hp2 HG03942.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0135 a0001c0001t0001g0136 others(5): Show a0001c0001t0001g0011 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141	11	242	0.0455	4	c.68+ others(19): Show c.68+1905_68+1908dupTCCA	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTRT2_chr1_3016467_3027903	3016491	G G	GGGGT GGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(78): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG01081.hp1 HG01123.hp2 HG01167.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01358.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp2 HG02129.hp2 HG02257.hp2 HG02273.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02886.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18959.hp1 NA18964.hp1 NA18964.hp2 NA18973.hp2 NA18975.hp1 NA18983.hp1 NA18991.hp2 NA18993.hp2 NA18995.hp1 NA19009.hp2 NA19010.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19085.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0004 a0001c0007 others(3): Show a0001c0001 a0001c0004 a0001c0007 a0002c0002 a0004c0005 a0005c0006	a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 others(6): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 a0001c0007t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0004c0005t0001 a0005c0006t0001	a0001c0001t0001g0000 a0001c0004t0001g0000 a0001c0004t0002g0000 others(6): Show a0001c0001t0001g0000 a0001c0004t0001g0000 a0001c0004t0002g0000 a0001c0007t0001g0000 a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0002t0005g0000 a0004c0005t0001g0000 a0005c0006t0001g0000	81	366	0.2213	4	c.-51 others(15): Show c.-5196_-5195insGGGT	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4975		chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3016514	A A	AAGAG AAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(77): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp2 HG01358.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp2 HG02129.hp2 HG02257.hp2 HG02273.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02886.hp1 HG02922.hp1 HG03041.hp2 HG03209.hp2 HG03225.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18959.hp1 NA18964.hp1 NA18964.hp2 NA18973.hp2 NA18975.hp1 NA18983.hp1 NA18991.hp2 NA18993.hp2 NA18995.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19085.hp2 NA19090.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 others(4): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0004c0005t0001	a0001c0001t0001g0000 a0001c0004t0001g0000 a0001c0004t0002g0000 others(4): Show a0001c0001t0001g0000 a0001c0004t0001g0000 a0001c0004t0002g0000 a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0002t0005g0000 a0004c0005t0001g0000	80	366	0.2186	4	c.-51 others(15): Show c.-5173_-5172insAGAG	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4952		chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3016631	G G	GAGAA GAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01069.hp2 HG03239.hp2 HG00735.hp2 HG01069.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	366	0.0082	4	c.-50 others(15): Show c.-5056_-5055insAGAA	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4835		chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3016648	A A	AGGAG AGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01069.hp2 HG03239.hp2 HG00735.hp2 HG01069.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	366	0.0082	4	c.-50 others(15): Show c.-5039_-5038insGGAG	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4818		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770629	C C	CATAA CATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02486.hp2 HG02572.hp1 others(9): Show HG00639.hp2 HG02486.hp2 HG02572.hp1 HG02647.hp1 HG02717.hp2 HG02922.hp1 HG03209.hp1 HG03209.hp2 NA18522.hp2 NA18945.hp1 NA18963.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0044	12	418	0.0287	4	c.-11 others(15): Show c.-1110_-1109insTTAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1069		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770656	C C	CATAA CATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG02922.hp1 others(4): Show HG00639.hp2 HG01243.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03130.hp1 NA19000.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0044 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0044 a0003c0003t0001g0009	7	418	0.0168	4	c.-11 others(15): Show c.-1137_-1136insTTAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1096		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770876	A A	AATAT AATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG02602.hp2 NA18957.hp1 others(2): Show HG01358.hp1 HG02602.hp2 NA18957.hp1 NA19066.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0002c0002t0001g0004 a0001c0001t0001g0003 a0002c0002t0001g0004	5	418	0.0120	4	c.-13 others(15): Show c.-1357_-1356insATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1316		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770903	A A	AATAT AATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01256.hp2 HG01258.hp1 others(27): Show HG01074.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01978.hp1 HG01993.hp2 HG02258.hp1 HG02451.hp1 HG02602.hp2 HG02622.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG03195.hp1 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG06807.hp2 NA18906.hp1 NA18957.hp1 NA18973.hp1 NA18977.hp2 NA18993.hp1 NA19066.hp2 NA19090.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0002g0006 a0001c0001t0002g0030 a0002c0002t0001g0004	30	418	0.0718	4	c.-13 others(15): Show c.-1384_-1383insATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1343		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770930	A A	AATAT AATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG01074.hp1 others(33): Show HG00639.hp2 HG00735.hp2 HG01074.hp1 HG01192.hp1 HG01256.hp1 HG01433.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG02109.hp2 HG02155.hp1 HG02258.hp1 HG02293.hp2 HG02451.hp1 HG02602.hp2 HG02622.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG03195.hp1 HG03239.hp1 HG03540.hp1 HG03540.hp2 HG04199.hp1 HG06807.hp2 NA18906.hp1 NA18957.hp1 NA18963.hp2 NA18973.hp1 NA18977.hp2 NA18979.hp2 NA18993.hp1 NA19011.hp1 NA19066.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0015 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0002g0006 a0001c0001t0002g0030 a0002c0002t0001g0004	36	418	0.0861	4	c.-14 others(15): Show c.-1411_-1410insATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1370		chr3	TogoVar
ACVR1B_chr12_51946699_52002078	51993765	T T	TAAAA TAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03654.hp2 NA18943.hp2 others(5): Show HG00438.hp2 HG03654.hp2 NA18943.hp2 NA18945.hp2 NA18974.hp2 NA19004.hp1 NA19054.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0031 a0001c0001t0002 a0001c0001t0031	a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0058 others(5): Show a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0088 a0001c0001t0002g0096 a0001c0001t0002g0106 a0001c0001t0031g0044	8	324	0.0247	4	c.139 others(21): Show c.1393-184_1393-181dupAAAA	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR1C_chr2_157521767_157633864	157554201	G G	GAGAA GAGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(4): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00639.hp1 HG01978.hp2 HG02083.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0015	a0001c0001t0001g0150 a0001c0001t0001g0159 a0001c0001t0001g0173 others(4): Show a0001c0001t0001g0150 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0002t0001g0074 a0001c0002t0001g0110 a0001c0002t0003g0062 a0001c0002t0015g0141	7	216	0.0324	4	c.544 others(21): Show c.544+1888_544+1891dupTTCT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157576203	C C	CTTTT CTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(69): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01074.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01358.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp1 HG02004.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp1 HG03927.hp2 HG04115.hp2 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18990.hp1 NA18998.hp1 NA19043.hp2 NA19062.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0002c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(23): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0015 a0001c0002t0016 a0001c0002t0018 a0001c0002t0019 a0001c0002t0024 a0001c0002t0031 a0001c0007t0012 a0001c0007t0025 a0002c0003t0002 a0002c0003t0006 a0002c0003t0008 a0002c0003t0009 a0002c0003t0010 a0002c0003t0014 a0002c0003t0017 a0002c0003t0020 a0002c0003t0026 a0002c0008t0027	a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0005g0213 others(68): Show a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0005g0213 a0001c0001t0007g0197 a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0044 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0094 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0003g0021 a0001c0002t0003g0059 a0001c0002t0003g0062 a0001c0002t0003g0071 a0001c0002t0003g0093 a0001c0002t0003g0111 a0001c0002t0004g0135 a0001c0002t0005g0033 a0001c0002t0005g0095 a0001c0002t0007g0001 a0001c0002t0007g0054 a0001c0002t0007g0065 a0001c0002t0007g0072 a0001c0002t0007g0140 a0001c0002t0015g0053 a0001c0002t0015g0141 a0001c0002t0016g0037 a0001c0002t0016g0038 a0001c0002t0018g0061 a0001c0002t0019g0091 a0001c0002t0024g0108 a0001c0002t0031g0087 a0001c0007t0012g0089 a0001c0007t0025g0084 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0024 a0002c0003t0002g0029 a0002c0003t0002g0034 a0002c0003t0002g0060 a0002c0003t0006g0081 a0002c0003t0006g0082 a0002c0003t0006g0092 a0002c0003t0006g0102 a0002c0003t0006g0103 a0002c0003t0006g0104 a0002c0003t0006g0109 a0002c0003t0008g0028 a0002c0003t0008g0080 a0002c0003t0008g0097 a0002c0003t0009g0025 a0002c0003t0009g0026 a0002c0003t0009g0036 a0002c0003t0009g0066 a0002c0003t0009g0067 a0002c0003t0010g0031 a0002c0003t0010g0090 a0002c0003t0014g0086 a0002c0003t0017g0215 a0002c0003t0020g0083 a0002c0003t0026g0107 a0002c0008t0027g0105	72	216	0.3333	4	c.304 others(23): Show c.304+10980_304+10983dupAAAA	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	2/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157588848	C C	CATAT CATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG01192.hp2 others(37): Show HG00544.hp1 HG00544.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01884.hp1 HG01943.hp2 HG01975.hp1 HG02055.hp1 HG02083.hp2 HG02486.hp1 HG02602.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp1 HG06807.hp1 NA18970.hp1 NA18971.hp2 NA19043.hp2 NA19062.hp1 NA19076.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0009t0011 a0002c0003t0002 a0002c0003t0005 a0002c0003t0006 a0002c0003t0009 a0002c0003t0017 a0002c0004t0002 a0002c0004t0013	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0020 others(37): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0210 a0001c0001t0003g0171 a0001c0001t0004g0172 a0001c0001t0005g0155 a0001c0001t0005g0164 a0001c0002t0001g0088 a0001c0002t0003g0115 a0001c0002t0004g0125 a0001c0009t0011g0158 a0002c0003t0002g0039 a0002c0003t0002g0040 a0002c0003t0002g0043 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0124 a0002c0003t0002g0131 a0002c0003t0005g0008 a0002c0003t0005g0076 a0002c0003t0005g0077 a0002c0003t0005g0078 a0002c0003t0006g0102 a0002c0003t0006g0103 a0002c0003t0006g0104 a0002c0003t0009g0036 a0002c0003t0017g0215 a0002c0004t0002g0099 a0002c0004t0002g0100 a0002c0004t0013g0018	40	216	0.1852	4	c.74- others(19): Show c.74-1435_74-1432dupATAT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	1/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157629587	T T	TACAC TACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(38): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp2 HG01891.hp2 HG02071.hp1 HG02109.hp1 HG02145.hp2 HG02630.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03710.hp2 HG03834.hp1 NA18612.hp1 NA18949.hp2 NA18971.hp2 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19043.hp1 NA19062.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0012 others(3): Show a0001c0001 a0001c0002 a0001c0012 a0002c0003 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0035 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0015 a0001c0012t0003 a0002c0003t0002 a0002c0003t0008 a0002c0004t0006 a0002c0004t0008 a0002c0005t0008	a0001c0001t0001g0002 a0001c0001t0001g0148 a0001c0001t0001g0150 others(38): Show a0001c0001t0001g0002 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0003g0058 a0001c0001t0003g0171 a0001c0001t0003g0181 a0001c0001t0003g0189 a0001c0001t0004g0172 a0001c0001t0005g0155 a0001c0001t0007g0161 a0001c0001t0007g0197 a0001c0001t0011g0165 a0001c0001t0011g0166 a0001c0001t0012g0191 a0001c0001t0035g0142 a0001c0002t0001g0044 a0001c0002t0001g0056 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0208 a0001c0002t0003g0021 a0001c0002t0003g0093 a0001c0002t0003g0115 a0001c0002t0004g0114 a0001c0002t0004g0125 a0001c0002t0004g0130 a0001c0002t0004g0137 a0001c0002t0005g0033 a0001c0002t0015g0053 a0001c0012t0003g0051 a0002c0003t0002g0029 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0008g0097 a0002c0004t0006g0160 a0002c0004t0008g0183 a0002c0005t0008g0005	41	216	0.1898	4	c.-94 others(13): Show c.-944_-943insGTGT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding		724		chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157630594	C C	CAAAA CAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02647.hp1 others(2): Show HG01891.hp1 HG02280.hp2 HG02647.hp1 HG03453.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0014 a0001c0002t0028 others(1): Show a0001c0001t0001 a0001c0002t0014 a0001c0002t0028 a0002c0003t0002	a0001c0001t0001g0017 a0001c0002t0014g0049 a0001c0002t0028g0048 others(2): Show a0001c0001t0001g0017 a0001c0002t0014g0049 a0001c0002t0028g0048 a0002c0003t0002g0023 a0002c0003t0002g0024	5	216	0.0232	4	c.-19 others(15): Show c.-1951_-1950insTTTT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding		1731		chr2	TogoVar
ACVR1_chr2_157731446_157881330	157756973	T T	TTATA TTATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03486.hp2 NA21309.hp2 HG03041.hp1 HG03486.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0003t0004 a0001c0005t0001 a0001c0003t0001 a0001c0003t0004 a0001c0005t0001	a0001c0003t0001g0104 a0001c0003t0004g0167 a0001c0005t0001g0157 a0001c0003t0001g0104 a0001c0003t0004g0167 a0001c0005t0001g0157	3	174	0.0172	4	c.126 others(23): Show c.1264+3903_1264+3906dupTATA	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	9/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157757021	G G	GATAT GATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02559.hp1 HG03041.hp1 others(4): Show HG00735.hp1 HG02559.hp1 HG03041.hp1 HG03486.hp2 HG03516.hp2 NA18960.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0004 a0001c0003t0001 a0001c0003t0003 others(4): Show a0001c0001t0004 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004	a0001c0001t0004g0164 a0001c0003t0001g0104 a0001c0003t0003g0144 others(4): Show a0001c0001t0004g0164 a0001c0003t0001g0104 a0001c0003t0003g0144 a0001c0003t0004g0167 a0001c0005t0001g0072 a0001c0005t0003g0138 a0001c0005t0004g0174	7	174	0.0402	4	c.126 others(23): Show c.1264+3855_1264+3858dupATAT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	9/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157795377	A A	AACAC AACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02809.hp1 HG02895.hp2 others(2): Show HG01891.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0100 a0001c0002t0001g0134 a0001c0002t0001g0149 others(2): Show a0001c0002t0001g0100 a0001c0002t0001g0134 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0004g0173	5	174	0.0287	4	c.67+ others(19): Show c.67+4046_67+4049dupGTGT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	3/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157807854	T T	TGGGG TGGGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(32): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00735.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01261.hp1 HG01884.hp1 HG01978.hp2 HG02074.hp2 HG02135.hp1 HG02135.hp2 HG03225.hp1 HG03492.hp1 HG03927.hp2 NA18942.hp2 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18963.hp1 NA18963.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA19075.hp2 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0001c0005t0004 a0001c0005t0005	a0001c0001t0001g0057 a0001c0001t0001g0082 a0001c0001t0001g0106 others(32): Show a0001c0001t0001g0057 a0001c0001t0001g0082 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0002g0013 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0092 a0001c0001t0002g0119 a0001c0001t0002g0128 a0001c0001t0002g0141 a0001c0001t0007g0076 a0001c0001t0010g0003 a0001c0001t0013g0165 a0001c0001t0014g0087 a0001c0001t0016g0152 a0001c0002t0001g0091 a0001c0002t0002g0061 a0001c0002t0002g0075 a0001c0005t0001g0123 a0001c0005t0004g0174 a0001c0005t0005g0004	35	174	0.2012	4	c.-7- others(19): Show c.-7-8358_-7-8355dupCCCC	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	2/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157855321	T T	TACAC TACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18951.hp2 NA18954.hp1 others(1): Show HG00408.hp2 NA18951.hp2 NA18954.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0042 a0001c0001t0002g0065 a0001c0001t0002g0105 others(1): Show a0001c0001t0001g0042 a0001c0001t0002g0065 a0001c0001t0002g0105 a0001c0002t0002g0044	4	174	0.0230	4	c.-18 others(25): Show c.-183+20474_-183+20475insGTGT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157862422	T T	TACAC TACAC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02647.hp1 HG02647.hp2 others(9): Show HG01169.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02965.hp1 HG02976.hp2 HG03195.hp1 HG03704.hp1 NA18951.hp1 NA18956.hp1 NA18980.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0017 a0001c0002t0020 a0001c0006t0006	a0001c0001t0001g0020 a0001c0001t0001g0115 a0001c0001t0001g0116 others(9): Show a0001c0001t0001g0020 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0002g0154 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0002g0147 a0001c0002t0017g0122 a0001c0002t0020g0163 a0001c0006t0006g0121	12	174	0.0690	4	c.-18 others(25): Show c.-183+13370_-183+13373dupGTGT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157863336	C C	CTTTT CTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00558.hp2 others(18): Show HG00099.hp1 HG00438.hp2 HG00558.hp2 HG01074.hp2 HG01261.hp1 HG01978.hp1 HG01978.hp2 HG02132.hp1 HG02698.hp2 HG03491.hp2 HG03492.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 NA18951.hp2 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18981.hp2 NA19075.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0005t0001	a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0056 others(18): Show a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0002g0048 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0080 a0001c0001t0002g0151 a0001c0001t0012g0011 a0001c0001t0016g0152 a0001c0002t0001g0028 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0002g0044 a0001c0002t0002g0061 a0001c0005t0001g0072	21	174	0.1207	4	c.-18 others(25): Show c.-183+12456_-183+12459dupAAAA	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157865821	A A	AAGAT AAGAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00438.hp2 others(44): Show HG00099.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG01074.hp1 HG01168.hp1 HG01243.hp1 HG01261.hp2 HG01891.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02165.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02698.hp2 HG02895.hp1 HG02922.hp1 HG02976.hp1 HG03225.hp1 HG03225.hp2 HG03491.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG04228.hp1 HG04228.hp2 NA18942.hp1 NA18942.hp2 NA18951.hp2 NA18963.hp2 NA18981.hp1 NA18981.hp2 NA19030.hp2 NA19074.hp2 NA19240.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0004t0021 a0001c0005t0001	a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0054 others(44): Show a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0082 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0141 a0001c0001t0002g0151 a0001c0001t0013g0165 a0001c0001t0013g0166 a0001c0001t0014g0087 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0066 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0107 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0002g0061 a0001c0002t0003g0159 a0001c0002t0005g0001 a0001c0002t0007g0063 a0001c0002t0010g0008 a0001c0003t0001g0014 a0001c0003t0001g0021 a0001c0003t0001g0023 a0001c0003t0003g0144 a0001c0003t0005g0007 a0001c0004t0021g0171 a0001c0005t0001g0064	47	174	0.2701	4	c.-18 others(23): Show c.-183+9971_-183+9974dupATCT	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	1/10			chr2	TogoVar
ACVR1_chr2_157731446_157881330	157878760	A A	AGTGT AGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01884.hp2 HG02055.hp1 others(9): Show HG01168.hp2 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02451.hp1 HG02451.hp2 HG02698.hp1 HG03041.hp1 HG03209.hp2 HG04228.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0010 a0001c0002t0003 a0001c0002t0005 others(4): Show a0001c0001t0010 a0001c0002t0003 a0001c0002t0005 a0001c0003t0001 a0001c0003t0005 a0001c0004t0009 a0001c0006t0006	a0001c0001t0010g0003 a0001c0002t0003g0158 a0001c0002t0005g0002 others(9): Show a0001c0001t0010g0003 a0001c0002t0003g0158 a0001c0002t0005g0002 a0001c0002t0005g0006 a0001c0003t0001g0014 a0001c0003t0001g0021 a0001c0003t0001g0104 a0001c0003t0005g0005 a0001c0003t0005g0007 a0001c0004t0009g0161 a0001c0004t0009g0162 a0001c0006t0006g0160	12	174	0.0690	4	c.-31 others(15): Show c.-3151_-3148dupACAC	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding		2431		chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147845000	G G	GTTTT GTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02622.hp2 others(3): Show HG02055.hp1 HG02109.hp1 HG02622.hp2 HG02886.hp1 HG02895.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0014 a0001c0002t0001 a0001c0002t0006 a0001c0002t0014	a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 others(3): Show a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0006g0022 a0001c0002t0006g0177 a0001c0002t0014g0178	6	338	0.0178	4	c.-15 others(13): Show c.-153_-152insTTTT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		28		chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147845348	G G	GCCCC GCCCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00738.hp1 HG01069.hp2 others(22): Show HG00544.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01123.hp2 HG01943.hp1 HG01943.hp2 HG02027.hp1 HG02083.hp1 HG02615.hp1 HG02683.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp1 NA18962.hp2 NA18980.hp1 NA18984.hp2 NA18991.hp1 NA18998.hp1 NA19003.hp2 NA19006.hp1 NA19057.hp1 NA19075.hp2 NA19077.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0006 a0001c0002t0001 a0001c0002t0006 others(6): Show a0001c0001t0006 a0001c0002t0001 a0001c0002t0006 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0002t0023 a0001c0002t0026 a0001c0005t0001	a0001c0001t0006g0094 a0001c0002t0001g0008 a0001c0002t0001g0095 others(22): Show a0001c0001t0006g0094 a0001c0002t0001g0008 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0006g0099 a0001c0002t0010g0100 a0001c0002t0012g0007 a0001c0002t0013g0007 a0001c0002t0023g0113 a0001c0002t0026g0102 a0001c0005t0001g0008	25	338	0.0740	4	c.55+ others(17): Show c.55+150_55+153dupCCCC	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147881602	A A	AGTGT AGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG02922.hp1 others(3): Show HG01884.hp2 HG02486.hp2 HG02922.hp1 HG02922.hp2 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0195 others(3): Show a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0195 a0001c0001t0004g0199 a0001c0001t0004g0274 a0001c0001t0004g0289	6	338	0.0178	4	c.56- others(21): Show c.56-14662_56-14659dupGTGT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147888681	C C	CTTCT CTTCT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18946.hp2 NA18948.hp1 others(10): Show NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18951.hp1 NA18957.hp1 NA18968.hp1 NA18977.hp1 NA18985.hp2 NA18988.hp2 NA18995.hp1 NA19005.hp2 NA19079.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0280 others(5): Show a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0280 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0303 a0001c0001t0003g0306 a0001c0001t0003g0308	13	338	0.0385	4	c.56- others(19): Show c.56-7618_56-7617insCTTT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147890341	A A	AGTGT AGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(112): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01256.hp2 HG01358.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02083.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02809.hp2 HG03017.hp2 HG03453.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03669.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18952.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp2 NA18980.hp1 NA18981.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19030.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19068.hp2 NA19082.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19240.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(10): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0006 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0002t0025 a0001c0002t0026 a0001c0005t0001 a0002c0006t0011	a0001c0001t0002g0203 a0001c0001t0002g0207 a0001c0001t0004g0179 others(111): Show a0001c0001t0002g0203 a0001c0001t0002g0207 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0196 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0285 a0001c0001t0005g0276 a0001c0001t0006g0094 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0085 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0122 a0001c0002t0001g0127 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0192 a0001c0002t0006g0004 a0001c0002t0006g0005 a0001c0002t0006g0021 a0001c0002t0006g0023 a0001c0002t0006g0091 a0001c0002t0006g0099 a0001c0002t0010g0048 a0001c0002t0010g0100 a0001c0002t0012g0007 a0001c0002t0013g0007 a0001c0002t0025g0044 a0001c0002t0026g0102 a0001c0005t0001g0008 a0002c0006t0011g0086	115	338	0.3402	4	c.56- others(19): Show c.56-5935_56-5932dupGTGT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147931537	A A	ATGAT ATGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01070.hp1 HG01884.hp1 others(1): Show HG00140.hp1 HG01070.hp1 HG01884.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0043 a0001c0002t0001g0081 others(1): Show a0001c0002t0001g0040 a0001c0002t0001g0043 a0001c0002t0001g0081 a0001c0002t0001g0110	4	338	0.0118	4	c.42 others(15): Show c.4263_*4264insTGAT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		716		chr2	TogoVar
ACVRL1_chr12_51902504_51928361	51919361	C C	CTCTG CTCTG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18997.hp1 NA19087.hp2 NA18977.hp2 NA18997.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0033 a0001c0001t0001 a0001c0001t0033	a0001c0001t0001g0043 a0001c0001t0001g0102 a0001c0001t0033g0043 a0001c0001t0001g0043 a0001c0001t0001g0102 a0001c0001t0033g0043	3	438	0.0069	4	c.137 others(21): Show c.1377+248_1377+251dupCTGT	ACVRL1	ENSG00000139567.13	transcript	ENST00000388922.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVRL1_chr12_51902504_51928361	51919363	C C	CTGTG CTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00621.hp1 others(34): Show HG00544.hp1 HG00544.hp2 HG00621.hp1 HG01168.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02886.hp2 HG03130.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18940.hp2 NA18942.hp2 NA18966.hp1 NA18992.hp2 NA18995.hp2 NA19011.hp2 NA19064.hp1 NA19077.hp1 NA19084.hp2 NA19088.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0007 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0017 a0001c0001t0032 a0001c0002t0009 a0001c0003t0001 a0002c0007t0003 a0003c0009t0003	a0001c0001t0001g0030 a0001c0001t0002g0013 a0001c0001t0002g0021 others(15): Show a0001c0001t0001g0030 a0001c0001t0002g0013 a0001c0001t0002g0021 a0001c0001t0002g0045 a0001c0001t0002g0063 a0001c0001t0002g0119 a0001c0001t0003g0010 a0001c0001t0003g0107 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0004g0019 a0001c0001t0009g0125 a0001c0001t0017g0108 a0001c0001t0032g0030 a0001c0002t0009g0116 a0001c0003t0001g0045 a0002c0007t0003g0151 a0003c0009t0003g0010	37	438	0.0845	4	c.137 others(21): Show c.1377+286_1377+289dupGTGT	ACVRL1	ENSG00000139567.13	transcript	ENST00000388922.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACY1_chr3_51978535_51994197	51981122	A A	AGCTG AGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG01934.hp2 others(22): Show HG01884.hp1 HG01891.hp2 HG01934.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp2 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 a0002c0002t0001g0013	25	338	0.0740	4	c.-24 others(15): Show c.-2486_-2485insGCTG	ACY1	ENSG00000243989.9	transcript	ENST00000636358.2	protein_coding		2412		chr3	TogoVar

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