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	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
ACRBP_chr12_6633075_6652432	6644249	T T	G G	missense_variant missense_variant	MODERATE	HG03486.hp1 HG03486.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0002 a0008c0010t0002	a0008c0010t0002g0050 a0008c0010t0002g0050	1	422	0.0024	c.832 others(3): Show c.832A>C	p.Thr others(6): Show p.Thr278Pro	ACRBP	ENSG00000111644.8	transcript	ENST00000229243.7	protein_coding	5/10	898/1905	832/1632	278/543	chr12	TogoVar
ACRBP_chr12_6633075_6652432	6644359	C C	T T	missense_variant missense_variant	MODERATE	HG02056.hp1 HG02132.hp2 NA18946.hp1 others(4): Show HG02056.hp1 HG02132.hp2 NA18946.hp1 NA18979.hp1 NA18990.hp2 NA19058.hp1 NA19082.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0010 a0003c0004t0001g0052 a0003c0004t0001g0010 a0003c0004t0001g0052	7	422	0.0166	c.722 others(3): Show c.722G>A	p.Gly others(6): Show p.Gly241Glu	ACRBP	ENSG00000111644.8	transcript	ENST00000229243.7	protein_coding	5/10	788/1905	722/1632	241/543	chr12	TogoVar
ACRBP_chr12_6633075_6652432	6644459	T T	C C	missense_variant missense_variant	MODERATE	HG01978.hp2 HG01978.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0065 a0007c0011t0001g0065	1	422	0.0024	c.622 others(3): Show c.622A>G	p.Thr others(6): Show p.Thr208Ala	ACRBP	ENSG00000111644.8	transcript	ENST00000229243.7	protein_coding	5/10	688/1905	622/1632	208/543	chr12	TogoVar
ACRBP_chr12_6633075_6652432	6644555	C C	T T	missense_variant missense_variant	MODERATE	HG00558.hp2 HG02080.hp1 HG00558.hp2 HG02080.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0026 a0005c0006t0001g0026	2	422	0.0047	c.526 others(3): Show c.526G>A	p.Val others(6): Show p.Val176Met	ACRBP	ENSG00000111644.8	transcript	ENST00000229243.7	protein_coding	5/10	592/1905	526/1632	176/543	chr12	TogoVar
ACRBP_chr12_6633075_6652432	6645313	A A	T T	missense_variant missense_variant	MODERATE	HG01952.hp1 HG02647.hp2 HG02896.hp1 others(1): Show HG01952.hp1 HG02647.hp2 HG02896.hp1 HG02897.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0034 a0004c0005t0002g0035 a0004c0005t0002g0034 a0004c0005t0002g0035	4	422	0.0095	c.382 others(3): Show c.382T>A	p.Ser others(6): Show p.Ser128Thr	ACRBP	ENSG00000111644.8	transcript	ENST00000229243.7	protein_coding	4/10	448/1905	382/1632	128/543	chr12	TogoVar
ACRBP_chr12_6633075_6652432	6646862	G G	T T	missense_variant missense_variant	MODERATE	NA18972.hp2 NA18972.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0073 a0006c0008t0002g0073	1	422	0.0024	c.194 others(3): Show c.194C>A	p.Thr others(5): Show p.Thr65Asn	ACRBP	ENSG00000111644.8	transcript	ENST00000229243.7	protein_coding	2/10	260/1905	194/1632	65/543	chr12	TogoVar
ACRBP_chr12_6633075_6652432	6646926	C C	G G	missense_variant missense_variant	MODERATE	HG02004.hp2 HG02004.hp2	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0001 a0009c0007t0001	a0009c0007t0001g0037 a0009c0007t0001g0037	1	422	0.0024	c.130 others(3): Show c.130G>C	p.Glu others(5): Show p.Glu44Gln	ACRBP	ENSG00000111644.8	transcript	ENST00000229243.7	protein_coding	2/10	196/1905	130/1632	44/543	chr12	TogoVar
ACRV1_chr11_125666522_125685847	125672681	T T	A A	missense_variant missense_variant	MODERATE	HG01346.hp1 HG04184.hp1 HG01346.hp1 HG04184.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0099 a0004c0004t0002g0106 a0004c0004t0002g0099 a0004c0004t0002g0106	2	426	0.0047	c.710 others(3): Show c.710A>T	p.Asn others(6): Show p.Asn237Ile	ACRV1	ENSG00000134940.14	transcript	ENST00000533904.6	protein_coding	4/4	777/1936	710/798	237/265	chr11	TogoVar
ACRV1_chr11_125666522_125685847	125676475	G G	A A	missense_variant missense_variant	MODERATE	HG00673.hp1 HG00673.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0050 a0005c0009t0001g0050	1	426	0.0024	c.557 others(3): Show c.557C>T	p.Thr others(6): Show p.Thr186Ile	ACRV1	ENSG00000134940.14	transcript	ENST00000533904.6	protein_coding	3/4	624/1936	557/798	186/265	chr11	TogoVar
ACRV1_chr11_125666522_125685847	125677846	G G	T T	missense_variant missense_variant	MODERATE	HG02698.hp1 HG02698.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0118 a0006c0007t0001g0118	1	426	0.0024	c.504 others(3): Show c.504C>A	p.His others(6): Show p.His168Gln	ACRV1	ENSG00000134940.14	transcript	ENST00000533904.6	protein_coding	2/4	571/1936	504/798	168/265	chr11	TogoVar
ACRV1_chr11_125666522_125685847	125677974	C C	T T	missense_variant missense_variant	MODERATE	HG01074.hp1 HG01109.hp2 HG01255.hp1 others(18): Show HG01074.hp1 HG01109.hp2 HG01255.hp1 HG01255.hp2 HG02145.hp2 HG02486.hp1 HG02735.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03195.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03927.hp1 HG04228.hp1 NA18522.hp2 NA20805.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009	a0002c0002t0003g0020 a0002c0002t0003g0025 a0002c0002t0003g0032 others(10): Show a0002c0002t0003g0020 a0002c0002t0003g0025 a0002c0002t0003g0032 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0060 a0002c0002t0004g0058 a0002c0002t0004g0059 a0002c0002t0009g0116	21	426	0.0493	c.376 others(3): Show c.376G>A	p.Gly others(6): Show p.Gly126Arg	ACRV1	ENSG00000134940.14	transcript	ENST00000533904.6	protein_coding	2/4	443/1936	376/798	126/265	chr11	TogoVar
ACRV1_chr11_125666522_125685847	125678055	C C	T T	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02559.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0002 a0007c0006t0002	a0007c0006t0002g0105 a0007c0006t0002g0105	1	426	0.0024	c.295 others(3): Show c.295G>A	p.Ala others(5): Show p.Ala99Thr	ACRV1	ENSG00000134940.14	transcript	ENST00000533904.6	protein_coding	2/4	362/1936	295/798	99/265	chr11	TogoVar
ACRV1_chr11_125666522_125685847	125678213	A A	G G	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0008 a0008	a0008c0005 a0008c0005	a0008c0005t0001 a0008c0005t0001	a0008c0005t0001g0047 a0008c0005t0001g0047	1	426	0.0024	c.137 others(3): Show c.137T>C	p.Leu others(5): Show p.Leu46Pro	ACRV1	ENSG00000134940.14	transcript	ENST00000533904.6	protein_coding	2/4	204/1936	137/798	46/265	chr11	TogoVar
ACRV1_chr11_125666522_125685847	125678297	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18747.hp2 NA18982.hp2 NA19085.hp1 NA18747.hp2 NA18982.hp2 NA19085.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0072 a0003c0003t0001g0075 a0003c0003t0001g0078 a0003c0003t0001g0072 a0003c0003t0001g0075 a0003c0003t0001g0078	3	426	0.0070	c.53G others(2): Show c.53G>A	p.Gly others(5): Show p.Gly18Glu	ACRV1	ENSG00000134940.14	transcript	ENST00000533904.6	protein_coding	2/4	120/1936	53/798	18/265	chr11	TogoVar
ACR_chr22_50733204_50750339	50738301	C C	A A	missense_variant missense_variant	MODERATE	HG03239.hp2 HG03239.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0002 a0007c0007t0001g0002	1	464	0.0022	c.66C others(2): Show c.66C>A	p.Asn others(5): Show p.Asn22Lys	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding	1/5	98/1430	66/1266	22/421	chr22	TogoVar
ACR_chr22_50733204_50750339	50738306	C C	T T	missense_variant missense_variant	MODERATE	NA18965.hp2 NA18989.hp1 NA18999.hp1 others(1): Show NA18965.hp2 NA18989.hp1 NA18999.hp1 NA19002.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0003 a0005c0005t0001g0023 a0005c0005t0001g0003 a0005c0005t0001g0023	4	464	0.0086	c.71C others(2): Show c.71C>T	p.Thr others(5): Show p.Thr24Met	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding	1/5	103/1430	71/1266	24/421	chr22	TogoVar
ACR_chr22_50733204_50750339	50744135	T T	A A	missense_variant missense_variant	MODERATE	NA19075.hp1 NA19075.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0054 a0008c0008t0001g0054	1	464	0.0022	c.640 others(3): Show c.640T>A	p.Trp others(6): Show p.Trp214Arg	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding	4/5	672/1430	640/1266	214/421	chr22	TogoVar
ACR_chr22_50733204_50750339	50744716	A A	G G	missense_variant missense_variant	MODERATE	HG00673.hp2 HG00673.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0008 a0010c0012t0001g0008	1	464	0.0022	c.775 others(3): Show c.775A>G	p.Ile others(6): Show p.Ile259Val	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding	5/5	807/1430	775/1266	259/421	chr22	TogoVar
ACR_chr22_50733204_50750339	50744827	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(354): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0011 a0001c0013 others(7): Show a0001c0001 a0001c0011 a0001c0013 a0001c0015 a0003c0003 a0004c0006 a0005c0005 a0006c0004 a0007c0007 a0008c0008	a0001c0001t0001 a0001c0011t0001 a0001c0013t0001 others(7): Show a0001c0001t0001 a0001c0011t0001 a0001c0013t0001 a0001c0015t0001 a0003c0003t0001 a0004c0006t0001 a0005c0005t0001 a0006c0004t0001 a0007c0007t0001 a0008c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(129): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0011t0001g0011 a0001c0013t0001g0017 a0001c0015t0001g0004 a0003c0003t0001g0002 a0003c0003t0001g0010 a0003c0003t0001g0012 a0003c0003t0001g0026 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0083 a0003c0003t0001g0134 a0003c0003t0001g0140 a0004c0006t0001g0005 a0005c0005t0001g0003 a0005c0005t0001g0023 a0006c0004t0001g0001 a0006c0004t0001g0005 a0006c0004t0001g0012 a0006c0004t0001g0120 a0007c0007t0001g0002 a0008c0008t0001g0054	357	464	0.7694	c.886 others(3): Show c.886A>G	p.Met others(6): Show p.Met296Val	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding	5/5	918/1430	886/1266	296/421	chr22	TogoVar
ACR_chr22_50733204_50750339	50744993	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00423.hp2 HG01256.hp2 others(22): Show HG00099.hp2 HG00423.hp2 HG01256.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG02015.hp1 HG02257.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp2 HG03098.hp2 HG03490.hp2 HG03516.hp2 HG03942.hp2 NA18942.hp2 NA18967.hp1 NA19011.hp1 NA19043.hp2 NA19088.hp1 NA20905.hp2	a0003 a0009 a0003 a0009	a0003c0003 a0009c0010 a0003c0003 a0009c0010	a0003c0003t0001 a0009c0010t0001 a0003c0003t0001 a0009c0010t0001	a0003c0003t0001g0002 a0003c0003t0001g0010 a0003c0003t0001g0012 others(7): Show a0003c0003t0001g0002 a0003c0003t0001g0010 a0003c0003t0001g0012 a0003c0003t0001g0026 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0083 a0003c0003t0001g0134 a0003c0003t0001g0140 a0009c0010t0001g0019	25	464	0.0539	c.105 others(4): Show c.1052C>T	p.Pro others(6): Show p.Pro351Leu	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding	5/5	1084/1430	1052/1266	351/421	chr22	TogoVar
ACSBG1_chr15_78162468_78239565	78173664	G G	A A	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00609.hp1 HG01081.hp1 others(24): Show HG00423.hp2 HG00609.hp1 HG01081.hp1 HG01109.hp1 HG02015.hp1 HG02027.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02257.hp1 HG02258.hp2 HG02572.hp1 HG02615.hp1 HG02717.hp2 HG02886.hp1 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03486.hp1 NA18942.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18977.hp2 NA18990.hp1 NA19011.hp2 NA20129.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0014 a0003c0004 a0004c0014	a0003c0004t0003 a0003c0004t0009 a0003c0004t0021 others(1): Show a0003c0004t0003 a0003c0004t0009 a0003c0004t0021 a0004c0014t0003	a0003c0004t0003g0051 a0003c0004t0003g0052 a0003c0004t0003g0080 others(24): Show a0003c0004t0003g0051 a0003c0004t0003g0052 a0003c0004t0003g0080 a0003c0004t0003g0085 a0003c0004t0003g0089 a0003c0004t0003g0093 a0003c0004t0003g0101 a0003c0004t0003g0120 a0003c0004t0003g0127 a0003c0004t0003g0128 a0003c0004t0003g0129 a0003c0004t0003g0130 a0003c0004t0003g0149 a0003c0004t0003g0163 a0003c0004t0003g0167 a0003c0004t0003g0190 a0003c0004t0003g0220 a0003c0004t0003g0294 a0003c0004t0003g0309 a0003c0004t0003g0323 a0003c0004t0003g0343 a0003c0004t0009g0048 a0003c0004t0009g0049 a0003c0004t0009g0115 a0003c0004t0009g0202 a0003c0004t0021g0184 a0004c0014t0003g0135	27	350	0.0771	c.201 others(4): Show c.2018C>T	p.Ala others(6): Show p.Ala673Val	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	13/14	2082/6215	2018/2175	673/724	chr15	TogoVar
ACSBG1_chr15_78162468_78239565	78173785	T T	C C	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00423.hp1 HG00423.hp2 others(178): Show HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18995.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19062.hp2 NA19066.hp2 NA19072.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0006 a0007	a0002c0002 a0002c0003 a0002c0005 others(10): Show a0002c0002 a0002c0003 a0002c0005 a0002c0007 a0002c0009 a0002c0010 a0002c0016 a0002c0017 a0002c0019 a0003c0004 a0004c0014 a0006c0020 a0007c0015	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(24): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0024 a0002c0002t0025 a0002c0002t0031 a0002c0003t0001 a0002c0003t0008 a0002c0003t0015 a0002c0003t0018 a0002c0003t0035 a0002c0005t0005 a0002c0005t0006 a0002c0005t0033 a0002c0005t0034 a0002c0007t0011 a0002c0009t0001 a0002c0010t0019 a0002c0016t0002 a0002c0017t0004 a0002c0019t0005 a0003c0004t0003 a0003c0004t0009 a0003c0004t0021 a0004c0014t0003 a0006c0020t0032 a0007c0015t0026	a0002c0002t0001g0062 a0002c0002t0001g0186 a0002c0002t0001g0188 others(175): Show a0002c0002t0001g0062 a0002c0002t0001g0186 a0002c0002t0001g0188 a0002c0002t0001g0203 a0002c0002t0001g0222 a0002c0002t0001g0224 a0002c0002t0001g0270 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0344 a0002c0002t0002g0001 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0041 a0002c0002t0002g0044 a0002c0002t0002g0066 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0083 a0002c0002t0002g0088 a0002c0002t0002g0103 a0002c0002t0002g0105 a0002c0002t0002g0114 a0002c0002t0002g0117 a0002c0002t0002g0181 a0002c0002t0002g0206 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0289 a0002c0002t0002g0303 a0002c0002t0004g0037 a0002c0002t0004g0053 a0002c0002t0004g0054 a0002c0002t0004g0055 a0002c0002t0004g0056 a0002c0002t0004g0057 a0002c0002t0004g0059 a0002c0002t0004g0060 a0002c0002t0004g0061 a0002c0002t0004g0064 a0002c0002t0004g0124 a0002c0002t0004g0154 a0002c0002t0004g0155 a0002c0002t0004g0179 a0002c0002t0004g0180 a0002c0002t0004g0182 a0002c0002t0004g0191 a0002c0002t0004g0201 a0002c0002t0004g0341 a0002c0002t0024g0313 a0002c0002t0025g0134 a0002c0002t0031g0076 a0002c0003t0001g0004 a0002c0003t0001g0005 a0002c0003t0001g0020 a0002c0003t0001g0045 a0002c0003t0001g0102 a0002c0003t0001g0109 a0002c0003t0001g0110 a0002c0003t0001g0121 a0002c0003t0001g0123 a0002c0003t0001g0131 a0002c0003t0001g0133 a0002c0003t0001g0143 a0002c0003t0001g0156 a0002c0003t0001g0158 a0002c0003t0001g0166 a0002c0003t0001g0169 a0002c0003t0001g0199 a0002c0003t0001g0208 a0002c0003t0001g0229 a0002c0003t0001g0236 a0002c0003t0001g0237 a0002c0003t0001g0238 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0001g0241 a0002c0003t0001g0242 a0002c0003t0001g0246 a0002c0003t0001g0258 a0002c0003t0001g0261 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0266 a0002c0003t0001g0284 a0002c0003t0001g0298 a0002c0003t0001g0299 a0002c0003t0001g0302 a0002c0003t0001g0318 a0002c0003t0001g0342 a0002c0003t0008g0267 a0002c0003t0015g0058 a0002c0003t0015g0082 a0002c0003t0018g0119 a0002c0003t0018g0223 a0002c0003t0035g0132 a0002c0005t0005g0018 a0002c0005t0005g0038 a0002c0005t0005g0040 a0002c0005t0005g0043 a0002c0005t0005g0063 a0002c0005t0005g0090 a0002c0005t0005g0100 a0002c0005t0005g0108 a0002c0005t0005g0192 a0002c0005t0005g0207 a0002c0005t0005g0210 a0002c0005t0005g0212 a0002c0005t0005g0256 a0002c0005t0005g0314 a0002c0005t0005g0333 a0002c0005t0006g0230 a0002c0005t0006g0231 a0002c0005t0006g0232 a0002c0005t0006g0233 a0002c0005t0006g0234 a0002c0005t0006g0254 a0002c0005t0033g0042 a0002c0005t0034g0226 a0002c0007t0011g0065 a0002c0007t0011g0275 a0002c0007t0011g0324 a0002c0007t0011g0330 a0002c0009t0001g0011 a0002c0009t0001g0012 a0002c0010t0019g0189 a0002c0010t0019g0340 a0002c0016t0002g0046 a0002c0017t0004g0235 a0002c0019t0005g0175 a0003c0004t0003g0051 a0003c0004t0003g0052 a0003c0004t0003g0080 a0003c0004t0003g0085 a0003c0004t0003g0089 a0003c0004t0003g0093 a0003c0004t0003g0101 a0003c0004t0003g0120 a0003c0004t0003g0127 a0003c0004t0003g0128 a0003c0004t0003g0129 a0003c0004t0003g0130 a0003c0004t0003g0149 a0003c0004t0003g0163 a0003c0004t0003g0167 a0003c0004t0003g0190 a0003c0004t0003g0220 a0003c0004t0003g0294 a0003c0004t0003g0309 a0003c0004t0003g0323 a0003c0004t0003g0343 a0003c0004t0009g0048 a0003c0004t0009g0049 a0003c0004t0009g0115 a0003c0004t0009g0202 a0003c0004t0021g0184 a0004c0014t0003g0135 a0006c0020t0032g0194 a0007c0015t0026g0116	181	350	0.5171	c.189 others(4): Show c.1897A>G	p.Met others(6): Show p.Met633Val	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	13/14	1961/6215	1897/2175	633/724	chr15	TogoVar
ACSBG1_chr15_78162468_78239565	78174402	T T	C C	missense_variant missense_variant	MODERATE	NA19083.hp1 NA19083.hp1	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0001 a0005c0018t0001	a0005c0018t0001g0253 a0005c0018t0001g0253	1	350	0.0029	c.182 others(4): Show c.1825A>G	p.Met others(6): Show p.Met609Val	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	12/14	1889/6215	1825/2175	609/724	chr15	TogoVar
ACSBG1_chr15_78162468_78239565	78178650	C C	T T	missense_variant missense_variant	MODERATE	HG03831.hp2 HG03831.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0032 a0006c0020t0032	a0006c0020t0032g0194 a0006c0020t0032g0194	1	350	0.0029	c.166 others(4): Show c.1666G>A	p.Ala others(6): Show p.Ala556Thr	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	11/14	1730/6215	1666/2175	556/724	chr15	TogoVar
ACSBG1_chr15_78162468_78239565	78178692	C C	T T	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02572.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0026 a0007c0015t0026	a0007c0015t0026g0116 a0007c0015t0026g0116	1	350	0.0029	c.162 others(4): Show c.1624G>A	p.Glu others(6): Show p.Glu542Lys	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	11/14	1688/6215	1624/2175	542/724	chr15	TogoVar
ACSBG1_chr15_78162468_78239565	78180818	C C	T T	missense_variant missense_variant	MODERATE	HG00609.hp1 HG00609.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0003 a0004c0014t0003	a0004c0014t0003g0135 a0004c0014t0003g0135	1	350	0.0029	c.119 others(4): Show c.1190G>A	p.Arg others(6): Show p.Arg397Gln	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	9/14	1254/6215	1190/2175	397/724	chr15	TogoVar
ACSBG1_chr15_78162468_78239565	78193552	T T	C C	missense_variant missense_variant	MODERATE	NA18965.hp1 NA18965.hp1	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0001 a0008c0022t0001	a0008c0022t0001g0106 a0008c0022t0001g0106	1	350	0.0029	c.617 others(3): Show c.617A>G	p.Asn others(6): Show p.Asn206Ser	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	5/14	681/6215	617/2175	206/724	chr15	TogoVar
ACSBG1_chr15_78162468_78239565	78194700	C C	T T	missense_variant missense_variant	MODERATE	NA18747.hp1 NA18747.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0255 a0009c0012t0001g0255	1	350	0.0029	c.259 others(3): Show c.259G>A	p.Asp others(5): Show p.Asp87Asn	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	3/14	323/6215	259/2175	87/724	chr15	TogoVar
ACSBG1_chr15_78162468_78239565	78234462	C C	T T	missense_variant missense_variant	MODERATE	NA18980.hp1 NA18980.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0006 a0010c0011t0001g0006	1	350	0.0029	c.40G others(2): Show c.40G>A	p.Gly others(5): Show p.Gly14Arg	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	1/14	104/6215	40/2175	14/724	chr15	TogoVar
ACSBG2_chr19_6130667_6198091	6141562	A A	G G	missense_variant missense_variant	MODERATE	NA18945.hp2 NA18974.hp2 NA18945.hp2 NA18974.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0119 a0008c0014t0001g0246 a0008c0014t0001g0119 a0008c0014t0001g0246	2	262	0.0076	c.19A others(2): Show c.19A>G	p.Thr others(4): Show p.Thr7Ala	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	2/15	293/2734	19/2001	7/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6141582	T T	A A	missense_variant missense_variant	MODERATE	HG03492.hp2 HG03492.hp2	a0018 a0018	a0018c0015 a0018c0015	a0018c0015t0001 a0018c0015t0001	a0018c0015t0001g0257 a0018c0015t0001g0257	1	262	0.0038	c.39T others(2): Show c.39T>A	p.Asp others(5): Show p.Asp13Glu	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	2/15	313/2734	39/2001	13/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6147665	C C	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02486.hp2 HG02622.hp2 others(3): Show HG01884.hp2 HG02486.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG03209.hp1	a0007 a0011 a0017 a0007 a0011 a0017	a0007c0008 a0011c0009 a0017c0018 a0007c0008 a0011c0009 a0017c0018	a0007c0008t0002 a0011c0009t0002 a0017c0018t0001 a0007c0008t0002 a0011c0009t0002 a0017c0018t0001	a0007c0008t0002g0145 a0007c0008t0002g0161 a0007c0008t0002g0162 others(3): Show a0007c0008t0002g0145 a0007c0008t0002g0161 a0007c0008t0002g0162 a0011c0009t0002g0147 a0011c0009t0002g0164 a0017c0018t0001g0148	6	262	0.0229	c.287 others(3): Show c.287C>A	p.Ser others(5): Show p.Ser96Tyr	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	3/15	561/2734	287/2001	96/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6151720	G G	A A	missense_variant missense_variant	MODERATE	HG02723.hp1 HG02723.hp1	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0001 a0012c0021t0001	a0012c0021t0001g0100 a0012c0021t0001g0100	1	262	0.0038	c.311 others(3): Show c.311G>A	p.Arg others(6): Show p.Arg104His	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	4/15	585/2734	311/2001	104/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6151766	T T	A A	missense_variant missense_variant	MODERATE	HG04228.hp1 HG04228.hp1	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0001 a0016c0022t0001	a0016c0022t0001g0075 a0016c0022t0001g0075	1	262	0.0038	c.357 others(3): Show c.357T>A	p.Phe others(6): Show p.Phe119Leu	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	4/15	631/2734	357/2001	119/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6151788	C C	A A	missense_variant missense_variant	MODERATE	HG01891.hp1 HG01891.hp1	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0001 a0013c0016t0001	a0013c0016t0001g0014 a0013c0016t0001g0014	1	262	0.0038	c.379 others(3): Show c.379C>A	p.Leu others(6): Show p.Leu127Ile	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	4/15	653/2734	379/2001	127/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6156472	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(164): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18950.hp1 NA18952.hp2 NA18956.hp2 NA18963.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19077.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19089.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0007 a0009 a0011 a0013 a0014 a0017 a0018	a0001c0001 a0001c0017 a0001c0020 others(14): Show a0001c0001 a0001c0017 a0001c0020 a0001c0024 a0003c0004 a0003c0005 a0003c0011 a0003c0012 a0004c0003 a0004c0019 a0007c0008 a0009c0010 a0011c0009 a0013c0016 a0014c0023 a0017c0018 a0018c0015	a0001c0001t0001 a0001c0001t0003 a0001c0017t0001 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0017t0001 a0001c0020t0001 a0001c0024t0001 a0003c0004t0002 a0003c0005t0001 a0003c0011t0001 a0003c0012t0002 a0004c0003t0001 a0004c0003t0002 a0004c0019t0002 a0007c0008t0002 a0009c0010t0002 a0011c0009t0002 a0013c0016t0001 a0014c0023t0001 a0017c0018t0001 a0018c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(163): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0146 a0001c0001t0003g0163 a0001c0017t0001g0239 a0001c0020t0001g0051 a0001c0024t0001g0036 a0003c0004t0002g0006 a0003c0004t0002g0007 a0003c0004t0002g0008 a0003c0004t0002g0009 a0003c0004t0002g0010 a0003c0004t0002g0011 a0003c0004t0002g0012 a0003c0004t0002g0013 a0003c0004t0002g0131 a0003c0005t0001g0001 a0003c0005t0001g0133 a0003c0005t0001g0241 a0003c0005t0001g0242 a0003c0005t0001g0243 a0003c0005t0001g0244 a0003c0011t0001g0144 a0003c0011t0001g0160 a0003c0012t0002g0046 a0003c0012t0002g0197 a0004c0003t0001g0043 a0004c0003t0001g0044 a0004c0003t0001g0045 a0004c0003t0001g0047 a0004c0003t0001g0048 a0004c0003t0001g0049 a0004c0003t0002g0134 a0004c0003t0002g0135 a0004c0003t0002g0136 a0004c0003t0002g0137 a0004c0003t0002g0138 a0004c0019t0002g0050 a0007c0008t0002g0145 a0007c0008t0002g0161 a0007c0008t0002g0162 a0009c0010t0002g0052 a0009c0010t0002g0054 a0011c0009t0002g0147 a0011c0009t0002g0164 a0013c0016t0001g0014 a0014c0023t0001g0201 a0017c0018t0001g0148 a0018c0015t0001g0257	167	262	0.6374	c.428 others(3): Show c.428T>C	p.Val others(6): Show p.Val143Ala	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	5/15	702/2734	428/2001	143/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6156499	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG01074.hp1 others(3): Show HG00099.hp2 HG00140.hp1 HG01074.hp1 HG01168.hp1 HG01169.hp2 NA20752.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0057 a0006c0007t0001g0058 a0006c0007t0001g0059 others(3): Show a0006c0007t0001g0057 a0006c0007t0001g0058 a0006c0007t0001g0059 a0006c0007t0001g0060 a0006c0007t0001g0064 a0006c0007t0001g0065	6	262	0.0229	c.455 others(3): Show c.455A>G	p.Lys others(6): Show p.Lys152Arg	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	5/15	729/2734	455/2001	152/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6165891	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG03209.hp1 HG01884.hp2 HG03209.hp1	a0011 a0011	a0011c0009 a0011c0009	a0011c0009t0002 a0011c0009t0002	a0011c0009t0002g0147 a0011c0009t0002g0164 a0011c0009t0002g0147 a0011c0009t0002g0164	2	262	0.0076	c.614 others(3): Show c.614G>A	p.Arg others(6): Show p.Arg205Lys	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	7/15	888/2734	614/2001	205/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6165983	A A	T T	missense_variant missense_variant	MODERATE	HG00597.hp1 HG00597.hp1	a0015 a0015	a0015c0025 a0015c0025	a0015c0025t0001 a0015c0025t0001	a0015c0025t0001g0061 a0015c0025t0001g0061	1	262	0.0038	c.706 others(3): Show c.706A>T	p.Ile others(6): Show p.Ile236Leu	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	7/15	980/2734	706/2001	236/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6187666	G G	A A	missense_variant missense_variant	MODERATE	HG03195.hp2 HG03209.hp2 HG03195.hp2 HG03209.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0002 a0009c0010t0002	a0009c0010t0002g0052 a0009c0010t0002g0054 a0009c0010t0002g0052 a0009c0010t0002g0054	2	262	0.0076	c.174 others(4): Show c.1748G>A	p.Arg others(6): Show p.Arg583Gln	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	13/15	2022/2734	1748/2001	583/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6187669	G G	A A	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01071.hp2 HG01884.hp2 others(16): Show HG01069.hp1 HG01071.hp2 HG01884.hp2 HG02027.hp1 HG02080.hp1 HG02129.hp1 HG02486.hp2 HG02622.hp2 HG02630.hp1 HG02895.hp2 HG03209.hp1 HG03669.hp1 HG04199.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18980.hp2 NA19000.hp1 NA19012.hp2	a0004 a0007 a0010 others(1): Show a0004 a0007 a0010 a0011	a0004c0003 a0004c0019 a0007c0008 others(2): Show a0004c0003 a0004c0019 a0007c0008 a0010c0013 a0011c0009	a0004c0003t0001 a0004c0003t0002 a0004c0019t0002 others(3): Show a0004c0003t0001 a0004c0003t0002 a0004c0019t0002 a0007c0008t0002 a0010c0013t0002 a0011c0009t0002	a0004c0003t0001g0043 a0004c0003t0001g0044 a0004c0003t0001g0045 others(16): Show a0004c0003t0001g0043 a0004c0003t0001g0044 a0004c0003t0001g0045 a0004c0003t0001g0047 a0004c0003t0001g0048 a0004c0003t0001g0049 a0004c0003t0002g0134 a0004c0003t0002g0135 a0004c0003t0002g0136 a0004c0003t0002g0137 a0004c0003t0002g0138 a0004c0019t0002g0050 a0007c0008t0002g0145 a0007c0008t0002g0161 a0007c0008t0002g0162 a0010c0013t0002g0110 a0010c0013t0002g0114 a0011c0009t0002g0147 a0011c0009t0002g0164	19	262	0.0725	c.175 others(4): Show c.1751G>A	p.Gly others(6): Show p.Gly584Asp	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	13/15	2025/2734	1751/2001	584/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6187675	G G	A A	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01071.hp2 HG01884.hp2 others(16): Show HG01069.hp1 HG01071.hp2 HG01884.hp2 HG02027.hp1 HG02080.hp1 HG02129.hp1 HG02486.hp2 HG02622.hp2 HG02630.hp1 HG02895.hp2 HG03209.hp1 HG03669.hp1 HG04199.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18980.hp2 NA19000.hp1 NA19012.hp2	a0004 a0007 a0010 others(1): Show a0004 a0007 a0010 a0011	a0004c0003 a0004c0019 a0007c0008 others(2): Show a0004c0003 a0004c0019 a0007c0008 a0010c0013 a0011c0009	a0004c0003t0001 a0004c0003t0002 a0004c0019t0002 others(3): Show a0004c0003t0001 a0004c0003t0002 a0004c0019t0002 a0007c0008t0002 a0010c0013t0002 a0011c0009t0002	a0004c0003t0001g0043 a0004c0003t0001g0044 a0004c0003t0001g0045 others(16): Show a0004c0003t0001g0043 a0004c0003t0001g0044 a0004c0003t0001g0045 a0004c0003t0001g0047 a0004c0003t0001g0048 a0004c0003t0001g0049 a0004c0003t0002g0134 a0004c0003t0002g0135 a0004c0003t0002g0136 a0004c0003t0002g0137 a0004c0003t0002g0138 a0004c0019t0002g0050 a0007c0008t0002g0145 a0007c0008t0002g0161 a0007c0008t0002g0162 a0010c0013t0002g0110 a0010c0013t0002g0114 a0011c0009t0002g0147 a0011c0009t0002g0164	19	262	0.0725	c.175 others(4): Show c.1757G>A	p.Gly others(6): Show p.Gly586Asp	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	13/15	2031/2734	1757/2001	586/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6187720	C C	G G	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02572.hp2 HG02647.hp2 others(4): Show HG02145.hp1 HG02572.hp2 HG02647.hp2 HG02886.hp2 HG03098.hp1 HG03139.hp1 HG03579.hp1	a0005 a0014 a0005 a0014	a0005c0006 a0014c0023 a0005c0006 a0014c0023	a0005c0006t0001 a0014c0023t0001 a0005c0006t0001 a0014c0023t0001	a0005c0006t0001g0018 a0005c0006t0001g0023 a0005c0006t0001g0025 others(4): Show a0005c0006t0001g0018 a0005c0006t0001g0023 a0005c0006t0001g0025 a0005c0006t0001g0026 a0005c0006t0001g0027 a0005c0006t0001g0028 a0014c0023t0001g0201	7	262	0.0267	c.180 others(4): Show c.1802C>G	p.Pro others(6): Show p.Pro601Arg	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	13/15	2076/2734	1802/2001	601/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6187789	G G	A A	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01071.hp2 HG01433.hp1 others(39): Show HG01069.hp1 HG01071.hp2 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG02027.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02895.hp2 HG02897.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG03669.hp1 HG03834.hp2 HG04199.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18973.hp2 NA18975.hp2 NA18980.hp2 NA18983.hp2 NA19000.hp1 NA19012.hp2 NA19030.hp2 NA19066.hp2 NA19077.hp2 NA19085.hp1	a0003 a0004 a0007 others(4): Show a0003 a0004 a0007 a0009 a0010 a0011 a0013	a0003c0004 a0003c0005 a0003c0011 others(8): Show a0003c0004 a0003c0005 a0003c0011 a0003c0012 a0004c0003 a0004c0019 a0007c0008 a0009c0010 a0010c0013 a0011c0009 a0013c0016	a0003c0004t0002 a0003c0005t0001 a0003c0011t0001 others(9): Show a0003c0004t0002 a0003c0005t0001 a0003c0011t0001 a0003c0012t0002 a0004c0003t0001 a0004c0003t0002 a0004c0019t0002 a0007c0008t0002 a0009c0010t0002 a0010c0013t0002 a0011c0009t0002 a0013c0016t0001	a0003c0004t0002g0006 a0003c0004t0002g0007 a0003c0004t0002g0008 others(38): Show a0003c0004t0002g0006 a0003c0004t0002g0007 a0003c0004t0002g0008 a0003c0004t0002g0009 a0003c0004t0002g0010 a0003c0004t0002g0011 a0003c0004t0002g0012 a0003c0004t0002g0013 a0003c0004t0002g0131 a0003c0005t0001g0001 a0003c0005t0001g0133 a0003c0005t0001g0241 a0003c0005t0001g0242 a0003c0005t0001g0243 a0003c0005t0001g0244 a0003c0011t0001g0144 a0003c0011t0001g0160 a0003c0012t0002g0046 a0003c0012t0002g0197 a0004c0003t0001g0043 a0004c0003t0001g0044 a0004c0003t0001g0045 a0004c0003t0001g0047 a0004c0003t0001g0048 a0004c0003t0001g0049 a0004c0003t0002g0134 a0004c0003t0002g0135 a0004c0003t0002g0136 a0004c0003t0002g0137 a0004c0003t0002g0138 a0004c0019t0002g0050 a0007c0008t0002g0145 a0007c0008t0002g0161 a0007c0008t0002g0162 a0009c0010t0002g0052 a0009c0010t0002g0054 a0010c0013t0002g0110 a0010c0013t0002g0114 a0011c0009t0002g0147 a0011c0009t0002g0164 a0013c0016t0001g0014	42	262	0.1603	c.187 others(4): Show c.1871G>A	p.Arg others(6): Show p.Arg624Lys	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	13/15	2145/2734	1871/2001	624/666	chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6187794	G G	C C	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01071.hp2 HG01433.hp1 others(39): Show HG01069.hp1 HG01071.hp2 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG02027.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02895.hp2 HG02897.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG03669.hp1 HG03834.hp2 HG04199.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18973.hp2 NA18975.hp2 NA18980.hp2 NA18983.hp2 NA19000.hp1 NA19012.hp2 NA19030.hp2 NA19066.hp2 NA19077.hp2 NA19085.hp1	a0003 a0004 a0007 others(4): Show a0003 a0004 a0007 a0009 a0010 a0011 a0013	a0003c0004 a0003c0005 a0003c0011 others(8): Show a0003c0004 a0003c0005 a0003c0011 a0003c0012 a0004c0003 a0004c0019 a0007c0008 a0009c0010 a0010c0013 a0011c0009 a0013c0016	a0003c0004t0002 a0003c0005t0001 a0003c0011t0001 others(9): Show a0003c0004t0002 a0003c0005t0001 a0003c0011t0001 a0003c0012t0002 a0004c0003t0001 a0004c0003t0002 a0004c0019t0002 a0007c0008t0002 a0009c0010t0002 a0010c0013t0002 a0011c0009t0002 a0013c0016t0001	a0003c0004t0002g0006 a0003c0004t0002g0007 a0003c0004t0002g0008 others(38): Show a0003c0004t0002g0006 a0003c0004t0002g0007 a0003c0004t0002g0008 a0003c0004t0002g0009 a0003c0004t0002g0010 a0003c0004t0002g0011 a0003c0004t0002g0012 a0003c0004t0002g0013 a0003c0004t0002g0131 a0003c0005t0001g0001 a0003c0005t0001g0133 a0003c0005t0001g0241 a0003c0005t0001g0242 a0003c0005t0001g0243 a0003c0005t0001g0244 a0003c0011t0001g0144 a0003c0011t0001g0160 a0003c0012t0002g0046 a0003c0012t0002g0197 a0004c0003t0001g0043 a0004c0003t0001g0044 a0004c0003t0001g0045 a0004c0003t0001g0047 a0004c0003t0001g0048 a0004c0003t0001g0049 a0004c0003t0002g0134 a0004c0003t0002g0135 a0004c0003t0002g0136 a0004c0003t0002g0137 a0004c0003t0002g0138 a0004c0019t0002g0050 a0007c0008t0002g0145 a0007c0008t0002g0161 a0007c0008t0002g0162 a0009c0010t0002g0052 a0009c0010t0002g0054 a0010c0013t0002g0110 a0010c0013t0002g0114 a0011c0009t0002g0147 a0011c0009t0002g0164 a0013c0016t0001g0014	42	262	0.1603	c.187 others(4): Show c.1876G>C	p.Glu others(6): Show p.Glu626Gln	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	13/15	2150/2734	1876/2001	626/666	chr19	TogoVar
ACSF2_chr17_50421218_50479837	50426316	G G	T T	missense_variant missense_variant	MODERATE	HG01106.hp2 HG01167.hp2 HG01169.hp1 others(9): Show HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG02145.hp1 HG02615.hp2 HG02630.hp1 HG02895.hp1 HG03225.hp2 HG03540.hp2 HG06807.hp2 NA21309.hp2	a0002 a0002	a0002c0004 a0002c0008 a0002c0004 a0002c0008	a0002c0004t0002 a0002c0008t0001 a0002c0004t0002 a0002c0008t0001	a0002c0004t0002g0012 a0002c0004t0002g0040 a0002c0004t0002g0041 others(8): Show a0002c0004t0002g0012 a0002c0004t0002g0040 a0002c0004t0002g0041 a0002c0004t0002g0042 a0002c0004t0002g0043 a0002c0004t0002g0044 a0002c0004t0002g0045 a0002c0004t0002g0046 a0002c0004t0002g0047 a0002c0008t0001g0263 a0002c0008t0001g0264	12	320	0.0375	c.55G others(2): Show c.55G>T	p.Gly others(5): Show p.Gly19Trp	ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding	1/16	99/2177	55/1848	19/615	chr17	TogoVar
ACSF2_chr17_50421218_50479837	50426323	T T	A A	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01071.hp2 HG01099.hp1 others(5): Show HG01069.hp1 HG01071.hp2 HG01099.hp1 HG02572.hp1 HG02886.hp2 HG02895.hp2 HG02976.hp2 HG03540.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0021 a0003c0005t0002g0148 a0003c0005t0002g0149 others(4): Show a0003c0005t0002g0021 a0003c0005t0002g0148 a0003c0005t0002g0149 a0003c0005t0002g0150 a0003c0005t0002g0151 a0003c0005t0002g0152 a0003c0005t0002g0153	8	320	0.0250	c.62T others(2): Show c.62T>A	p.Leu others(5): Show p.Leu21Gln	ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding	1/16	106/2177	62/1848	21/615	chr17	TogoVar
ACSF2_chr17_50421218_50479837	50426362	C C	T T	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02809.hp2 NA18522.hp2 others(1): Show HG02451.hp1 HG02809.hp2 NA18522.hp2 NA19030.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0002 a0004c0006t0001 a0004c0006t0002	a0004c0006t0001g0135 a0004c0006t0002g0136 a0004c0006t0002g0137 others(1): Show a0004c0006t0001g0135 a0004c0006t0002g0136 a0004c0006t0002g0137 a0004c0006t0002g0138	4	320	0.0125	c.101 others(3): Show c.101C>T	p.Ala others(5): Show p.Ala34Val	ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding	1/16	145/2177	101/1848	34/615	chr17	TogoVar
ACSF2_chr17_50421218_50479837	50460756	A A	C C	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00438.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0091 a0006c0011t0001g0091	1	320	0.0031	c.208 others(3): Show c.208A>C	p.Asn others(5): Show p.Asn70His	ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding	2/16	252/2177	208/1848	70/615	chr17	TogoVar
ACSF2_chr17_50421218_50479837	50463410	C C	T T	missense_variant missense_variant	MODERATE	NA18960.hp1 NA19090.hp1 NA18960.hp1 NA19090.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0016 a0005c0007t0001g0016	2	320	0.0063	c.904 others(3): Show c.904C>T	p.Arg others(6): Show p.Arg302Trp	ACSF2	ENSG00000167107.13	transcript	ENST00000300441.9	protein_coding	8/16	948/2177	904/1848	302/615	chr17	TogoVar

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