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	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
AMER2_chr13_25156679_25177288	25169643	G G	C C	missense_variant missense_variant	MODERATE	HG00735.hp2 HG01256.hp1 HG01358.hp1 others(30): Show HG00735.hp2 HG01256.hp1 HG01358.hp1 HG01891.hp2 HG01934.hp1 HG02055.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02300.hp1 HG02630.hp1 HG02647.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp2 HG04228.hp2 NA18522.hp1 NA18906.hp2 NA18944.hp1 NA18950.hp1 NA18951.hp1 NA18967.hp1 NA18973.hp1 NA18987.hp1 NA18991.hp2 NA19000.hp1 NA19043.hp2 NA19055.hp2 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0011 a0002c0002t0013 others(6): Show a0002c0002t0008 a0002c0002t0011 a0002c0002t0013 a0002c0002t0017 a0002c0002t0023 a0002c0002t0045 a0002c0002t0046 a0002c0002t0047 a0002c0002t0056	a0002c0002t0008g0000 a0002c0002t0011g0000 a0002c0002t0013g0000 others(6): Show a0002c0002t0008g0000 a0002c0002t0011g0000 a0002c0002t0013g0000 a0002c0002t0017g0000 a0002c0002t0023g0000 a0002c0002t0045g0000 a0002c0002t0046g0000 a0002c0002t0047g0000 a0002c0002t0056g0000	33	416	0.0793	c.197 others(4): Show c.1977C>G	p.Ile others(6): Show p.Ile659Met	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding	1/1	2646/10610	1977/2016	659/671	chr13	TogoVar
AMER2_chr13_25156679_25177288	25169935	G G	A A	missense_variant missense_variant	MODERATE	NA18974.hp2 NA18974.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0000 a0006c0011t0002g0000	1	416	0.0024	c.168 others(4): Show c.1685C>T	p.Pro others(6): Show p.Pro562Leu	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding	1/1	2354/10610	1685/2016	562/671	chr13	TogoVar
AMER2_chr13_25156679_25177288	25170010	G G	A A	missense_variant missense_variant	MODERATE	HG03225.hp2 HG03453.hp1 HG03225.hp2 HG03453.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0026 a0004c0004t0026	a0004c0004t0026g0000 a0004c0004t0026g0000	2	416	0.0048	c.161 others(4): Show c.1610C>T	p.Ser others(6): Show p.Ser537Leu	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding	1/1	2279/10610	1610/2016	537/671	chr13	TogoVar
AMER2_chr13_25156679_25177288	25170166	G G	T T	missense_variant missense_variant	MODERATE	HG01433.hp2 HG01433.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0000 a0008c0009t0001g0000	1	416	0.0024	c.145 others(4): Show c.1454C>A	p.Ala others(6): Show p.Ala485Glu	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding	1/1	2123/10610	1454/2016	485/671	chr13	TogoVar
AMER2_chr13_25156679_25177288	25170706	C C	A A	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02451.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0010 a0005c0012t0010	a0005c0012t0010g0000 a0005c0012t0010g0000	1	416	0.0024	c.914 others(3): Show c.914G>T	p.Arg others(6): Show p.Arg305Leu	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding	1/1	1583/10610	914/2016	305/671	chr13	TogoVar
AMER2_chr13_25156679_25177288	25171501	G G	A A	missense_variant missense_variant	MODERATE	HG02056.hp1 NA19074.hp2 NA19080.hp2 HG02056.hp1 NA19074.hp2 NA19080.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0024 a0003c0003t0025 a0003c0003t0024 a0003c0003t0025	a0003c0003t0024g0000 a0003c0003t0025g0000 a0003c0003t0024g0000 a0003c0003t0025g0000	3	416	0.0072	c.119 others(3): Show c.119C>T	p.Ala others(5): Show p.Ala40Val	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding	1/1	788/10610	119/2016	40/671	chr13	TogoVar
AMER3_chr2_130750540_130773134	130762358	G G	A A	missense_variant missense_variant	MODERATE	HG02895.hp1 HG02895.hp1	a0018 a0018	a0018c0011 a0018c0011	a0018c0011t0001 a0018c0011t0001	a0018c0011t0001g0001 a0018c0011t0001g0001	1	360	0.0028	c.286 others(3): Show c.286G>A	p.Asp others(5): Show p.Asp96Asn	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	440/6216	286/2586	96/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130762370	G G	A A	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0017 a0017	a0017c0012 a0017c0012	a0017c0012t0020 a0017c0012t0020	a0017c0012t0020g0013 a0017c0012t0020g0013	1	360	0.0028	c.298 others(3): Show c.298G>A	p.Gly others(6): Show p.Gly100Arg	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	452/6216	298/2586	100/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130762461	G G	A A	missense_variant missense_variant	MODERATE	NA18965.hp2 NA18965.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0037 a0009c0013t0037	a0009c0013t0037g0002 a0009c0013t0037g0002	1	360	0.0028	c.389 others(3): Show c.389G>A	p.Arg others(6): Show p.Arg130His	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	543/6216	389/2586	130/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130762605	C C	G G	missense_variant missense_variant	MODERATE	HG00323.hp2 HG00423.hp1 HG00544.hp2 others(65): Show HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02523.hp2 HG02683.hp2 HG03017.hp1 HG03669.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 NA18939.hp2 NA18940.hp1 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18970.hp2 NA18973.hp1 NA18978.hp1 NA18982.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19004.hp1 NA19011.hp1 NA19055.hp2 NA19062.hp2 NA19068.hp1 NA19070.hp1 NA19083.hp1 NA19089.hp1 NA19091.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0002 a0002c0002t0008 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0008 a0002c0002t0015 a0002c0002t0047 a0002c0002t0051 a0003c0003t0001 a0003c0003t0002 a0003c0003t0012 a0003c0003t0031 a0003c0003t0038	a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0008 others(15): Show a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0018 a0002c0002t0002g0001 a0002c0002t0002g0043 a0002c0002t0008g0001 a0002c0002t0008g0004 a0002c0002t0015g0001 a0002c0002t0047g0001 a0002c0002t0051g0001 a0003c0003t0001g0001 a0003c0003t0001g0019 a0003c0003t0001g0029 a0003c0003t0002g0019 a0003c0003t0012g0001 a0003c0003t0031g0001 a0003c0003t0038g0001	68	360	0.1889	c.533 others(3): Show c.533C>G	p.Ala others(6): Show p.Ala178Gly	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	687/6216	533/2586	178/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130762682	C C	G G	missense_variant missense_variant	MODERATE	HG03041.hp1 HG03041.hp1	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0034 a0010c0025t0034	a0010c0025t0034g0024 a0010c0025t0034g0024	1	360	0.0028	c.610 others(3): Show c.610C>G	p.Pro others(6): Show p.Pro204Ala	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	764/6216	610/2586	204/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130762705	C C	A A	missense_variant missense_variant	MODERATE	HG00609.hp2 HG00609.hp2	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0001 a0016c0014t0001	a0016c0014t0001g0011 a0016c0014t0001g0011	1	360	0.0028	c.633 others(3): Show c.633C>A	p.Asp others(6): Show p.Asp211Glu	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	787/6216	633/2586	211/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130763037	G G	A A	missense_variant missense_variant	MODERATE	NA19030.hp2 NA19030.hp2	a0011 a0011	a0011c0026 a0011c0026	a0011c0026t0025 a0011c0026t0025	a0011c0026t0025g0055 a0011c0026t0025g0055	1	360	0.0028	c.965 others(3): Show c.965G>A	p.Arg others(6): Show p.Arg322His	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	1119/6216	965/2586	322/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130763090	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.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.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018	a0001c0001 a0001c0005 a0001c0009 others(26): Show a0001c0001 a0001c0005 a0001c0009 a0001c0016 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0029 a0001c0030 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0005c0027 a0005c0028 a0006c0007 a0007c0008 a0009c0013 a0010c0025 a0011c0026 a0012c0018 a0013c0017 a0014c0015 a0015c0019 a0016c0014 a0017c0012 a0018c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(69): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0048 a0001c0005t0001 a0001c0005t0002 a0001c0009t0001 a0001c0016t0001 a0001c0020t0002 a0001c0021t0046 a0001c0022t0001 a0001c0023t0001 a0001c0024t0024 a0001c0029t0036 a0001c0030t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0008 a0002c0002t0015 a0002c0002t0047 a0002c0002t0051 a0003c0003t0001 a0003c0003t0002 a0003c0003t0012 a0003c0003t0031 a0003c0003t0038 a0004c0004t0004 a0004c0004t0026 a0004c0004t0045 a0005c0006t0035 a0005c0006t0039 a0005c0006t0042 a0005c0027t0050 a0005c0028t0049 a0006c0007t0001 a0006c0007t0002 a0007c0008t0003 a0007c0008t0006 a0009c0013t0037 a0010c0025t0034 a0011c0026t0025 a0012c0018t0001 a0013c0017t0032 a0014c0015t0001 a0015c0019t0001 a0016c0014t0001 a0017c0012t0020 a0018c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(116): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0003g0002 a0001c0001t0003g0016 a0001c0001t0003g0045 a0001c0001t0003g0050 a0001c0001t0005g0001 a0001c0001t0006g0001 a0001c0001t0006g0002 a0001c0001t0007g0006 a0001c0001t0007g0007 a0001c0001t0007g0012 a0001c0001t0008g0001 a0001c0001t0008g0020 a0001c0001t0009g0001 a0001c0001t0009g0033 a0001c0001t0010g0001 a0001c0001t0010g0003 a0001c0001t0010g0039 a0001c0001t0010g0049 a0001c0001t0011g0006 a0001c0001t0013g0007 a0001c0001t0013g0012 a0001c0001t0014g0013 a0001c0001t0016g0004 a0001c0001t0016g0011 a0001c0001t0017g0021 a0001c0001t0018g0021 a0001c0001t0019g0001 a0001c0001t0021g0002 a0001c0001t0022g0001 a0001c0001t0023g0052 a0001c0001t0027g0003 a0001c0001t0028g0003 a0001c0001t0029g0001 a0001c0001t0030g0032 a0001c0001t0033g0001 a0001c0001t0041g0002 a0001c0001t0043g0037 a0001c0001t0044g0001 a0001c0001t0048g0009 a0001c0005t0001g0001 a0001c0005t0002g0001 a0001c0009t0001g0001 a0001c0016t0001g0001 a0001c0020t0002g0003 a0001c0021t0046g0002 a0001c0022t0001g0001 a0001c0023t0001g0001 a0001c0024t0024g0038 a0001c0029t0036g0001 a0001c0030t0001g0003 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0018 a0002c0002t0002g0001 a0002c0002t0002g0043 a0002c0002t0008g0001 a0002c0002t0008g0004 a0002c0002t0015g0001 a0002c0002t0047g0001 a0002c0002t0051g0001 a0003c0003t0001g0001 a0003c0003t0001g0019 a0003c0003t0001g0029 a0003c0003t0002g0019 a0003c0003t0012g0001 a0003c0003t0031g0001 a0003c0003t0038g0001 a0004c0004t0004g0005 a0004c0004t0004g0025 a0004c0004t0026g0005 a0004c0004t0045g0005 a0005c0006t0035g0028 a0005c0006t0039g0027 a0005c0006t0042g0053 a0005c0027t0050g0054 a0005c0028t0049g0056 a0006c0007t0001g0009 a0006c0007t0002g0041 a0007c0008t0003g0002 a0007c0008t0006g0002 a0009c0013t0037g0002 a0010c0025t0034g0024 a0011c0026t0025g0055 a0012c0018t0001g0001 a0013c0017t0032g0001 a0014c0015t0001g0001 a0015c0019t0001g0004 a0016c0014t0001g0011 a0017c0012t0020g0013 a0018c0011t0001g0001	358	360	0.9944	c.101 others(4): Show c.1018T>C	p.Ser others(6): Show p.Ser340Pro	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	1172/6216	1018/2586	340/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130763093	C C	T T	missense_variant missense_variant	MODERATE	NA18969.hp1 NA19009.hp1 NA19062.hp1 NA18969.hp1 NA19009.hp1 NA19062.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0002 a0006c0007t0001 a0006c0007t0002	a0006c0007t0001g0009 a0006c0007t0002g0041 a0006c0007t0001g0009 a0006c0007t0002g0041	3	360	0.0083	c.102 others(4): Show c.1021C>T	p.Arg others(6): Show p.Arg341Trp	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	1175/6216	1021/2586	341/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130763369	C C	T T	missense_variant missense_variant	MODERATE	HG02015.hp2 HG02056.hp2 HG02074.hp1 others(12): Show HG02015.hp2 HG02056.hp2 HG02074.hp1 HG02155.hp2 HG02523.hp2 HG03927.hp2 NA18940.hp1 NA18946.hp2 NA18951.hp2 NA18957.hp1 NA18959.hp1 NA18970.hp2 NA18973.hp1 NA19001.hp1 NA19062.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0012 others(2): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0012 a0003c0003t0031 a0003c0003t0038	a0003c0003t0001g0001 a0003c0003t0001g0019 a0003c0003t0001g0029 others(4): Show a0003c0003t0001g0001 a0003c0003t0001g0019 a0003c0003t0001g0029 a0003c0003t0002g0019 a0003c0003t0012g0001 a0003c0003t0031g0001 a0003c0003t0038g0001	15	360	0.0417	c.129 others(4): Show c.1297C>T	p.Pro others(6): Show p.Pro433Ser	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	1451/6216	1297/2586	433/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130763372	C C	G G	missense_variant missense_variant	MODERATE	HG01175.hp1 HG02145.hp2 HG02258.hp2 others(14): Show HG01175.hp1 HG02145.hp2 HG02258.hp2 HG02630.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03453.hp1 HG03453.hp2 NA18522.hp2 NA19030.hp2 NA19043.hp1	a0004 a0005 a0011 a0004 a0005 a0011	a0004c0004 a0005c0006 a0005c0027 others(2): Show a0004c0004 a0005c0006 a0005c0027 a0005c0028 a0011c0026	a0004c0004t0004 a0004c0004t0026 a0004c0004t0045 others(6): Show a0004c0004t0004 a0004c0004t0026 a0004c0004t0045 a0005c0006t0035 a0005c0006t0039 a0005c0006t0042 a0005c0027t0050 a0005c0028t0049 a0011c0026t0025	a0004c0004t0004g0005 a0004c0004t0004g0025 a0004c0004t0026g0005 others(7): Show a0004c0004t0004g0005 a0004c0004t0004g0025 a0004c0004t0026g0005 a0004c0004t0045g0005 a0005c0006t0035g0028 a0005c0006t0039g0027 a0005c0006t0042g0053 a0005c0027t0050g0054 a0005c0028t0049g0056 a0011c0026t0025g0055	17	360	0.0472	c.130 others(4): Show c.1300C>G	p.Leu others(6): Show p.Leu434Val	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	1454/6216	1300/2586	434/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130763961	A A	C C	missense_variant missense_variant	MODERATE	NA18954.hp2 NA18954.hp2	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0001 a0015c0019t0001	a0015c0019t0001g0004 a0015c0019t0001g0004	1	360	0.0028	c.188 others(4): Show c.1889A>C	p.Asn others(6): Show p.Asn630Thr	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	2043/6216	1889/2586	630/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130764002	G G	C C	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00423.hp2	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0001 a0014c0015t0001	a0014c0015t0001g0001 a0014c0015t0001g0001	1	360	0.0028	c.193 others(4): Show c.1930G>C	p.Glu others(6): Show p.Glu644Gln	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	2084/6216	1930/2586	644/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130764036	G G	C C	missense_variant missense_variant	MODERATE	HG02135.hp1 NA19080.hp1 HG02135.hp1 NA19080.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0006 a0007c0008t0003 a0007c0008t0006	a0007c0008t0003g0002 a0007c0008t0006g0002 a0007c0008t0003g0002 a0007c0008t0006g0002	2	360	0.0056	c.196 others(4): Show c.1964G>C	p.Arg others(6): Show p.Arg655Pro	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	2118/6216	1964/2586	655/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130764206	A A	G G	missense_variant missense_variant	MODERATE	NA18945.hp1 NA18945.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0001 a0012c0018t0001g0001	1	360	0.0028	c.213 others(4): Show c.2134A>G	p.Arg others(6): Show p.Arg712Gly	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	2288/6216	2134/2586	712/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130764458	C C	T T	missense_variant missense_variant	MODERATE	HG01978.hp1 HG01978.hp1	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0032 a0013c0017t0032	a0013c0017t0032g0001 a0013c0017t0032g0001	1	360	0.0028	c.238 others(4): Show c.2386C>T	p.Arg others(6): Show p.Arg796Cys	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	2540/6216	2386/2586	796/861	chr2	TogoVar
AMER3_chr2_130750540_130773134	130764492	G G	A A	missense_variant missense_variant	MODERATE	HG01175.hp1 HG02145.hp2 HG02895.hp2 others(8): Show HG01175.hp1 HG02145.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03453.hp1 NA18522.hp2 NA19043.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0026 a0004c0004t0045 a0004c0004t0004 a0004c0004t0026 a0004c0004t0045	a0004c0004t0004g0005 a0004c0004t0004g0025 a0004c0004t0026g0005 others(1): Show a0004c0004t0004g0005 a0004c0004t0004g0025 a0004c0004t0026g0005 a0004c0004t0045g0005	11	360	0.0306	c.242 others(4): Show c.2420G>A	p.Gly others(6): Show p.Gly807Asp	AMER3	ENSG00000178171.12	transcript	ENST00000321420.5	protein_coding	2/2	2574/6216	2420/2586	807/861	chr2	TogoVar
AMFR_chr16_56356452_56430545	56363024	G G	A A	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0152 a0004c0005t0001g0152	1	356	0.0028	c.181 others(4): Show c.1817C>T	p.Ala others(6): Show p.Ala606Val	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	14/14	2035/3607	1817/1932	606/643	chr16	TogoVar
AMFR_chr16_56356452_56430545	56408001	G G	A A	missense_variant missense_variant	MODERATE	HG02559.hp1 NA19240.hp2 HG02559.hp1 NA19240.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0014	a0002c0003t0014g0138 a0002c0003t0014g0139 a0002c0003t0014g0138 a0002c0003t0014g0139	2	356	0.0056	c.629 others(3): Show c.629C>T	p.Thr others(6): Show p.Thr210Ile	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/14	847/3607	629/1932	210/643	chr16	TogoVar
AMFR_chr16_56356452_56430545	56408084	G G	C C	missense_variant missense_variant	MODERATE	NA19001.hp1 NA19001.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0106 a0003c0004t0002g0106	1	356	0.0028	c.546 others(3): Show c.546C>G	p.Ser others(6): Show p.Ser182Arg	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/14	764/3607	546/1932	182/643	chr16	TogoVar
AMFR_chr16_56356452_56430545	56408085	C C	T T	missense_variant missense_variant	MODERATE	NA19001.hp1 NA19001.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0106 a0003c0004t0002g0106	1	356	0.0028	c.545 others(3): Show c.545G>A	p.Ser others(6): Show p.Ser182Asn	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/14	763/3607	545/1932	182/643	chr16	TogoVar
AMHR2_chr12_53418855_53436672	53424398	C C	T T	missense_variant missense_variant	MODERATE	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0001 a0002c0007t0001g0001	1	356	0.0028	c.160 others(3): Show c.160C>T	p.Arg others(5): Show p.Arg54Cys	AMHR2	ENSG00000135409.11	transcript	ENST00000257863.9	protein_coding	2/11	240/2001	160/1722	54/573	chr12	TogoVar
AMHR2_chr12_53418855_53436672	53425455	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01884.hp1 HG01884.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0002 a0005c0006t0001g0002	1	356	0.0028	c.503 others(3): Show c.503C>T	p.Ala others(6): Show p.Ala168Val	AMHR2	ENSG00000135409.11	transcript	ENST00000257863.9	protein_coding	5/11	583/2001	503/1722	168/573	chr12	TogoVar
AMHR2_chr12_53418855_53436672	53431363	G G	A A	missense_variant missense_variant	MODERATE	NA18961.hp2 NA18961.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0003 a0004c0004t0002g0003	1	356	0.0028	c.161 others(4): Show c.1612G>A	p.Ala others(6): Show p.Ala538Thr	AMHR2	ENSG00000135409.11	transcript	ENST00000257863.9	protein_coding	11/11	1692/2001	1612/1722	538/573	chr12	TogoVar
AMHR2_chr12_53418855_53436672	53431403	G G	A A	missense_variant missense_variant	MODERATE	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0041 a0003c0005t0001g0041	1	356	0.0028	c.165 others(4): Show c.1652G>A	p.Cys others(6): Show p.Cys551Tyr	AMHR2	ENSG00000135409.11	transcript	ENST00000257863.9	protein_coding	11/11	1732/2001	1652/1722	551/573	chr12	TogoVar
AMH_chr19_2244323_2257073	2249355	G G	C C	missense_variant missense_variant	MODERATE	HG02717.hp1 HG02717.hp1	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0001 a0016c0014t0001	a0016c0014t0001g0002 a0016c0014t0001g0002	1	432	0.0023	c.23G others(2): Show c.23G>C	p.Ser others(4): Show p.Ser8Thr	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	1/5	33/1809	23/1683	8/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2249361	C C	T T	missense_variant missense_variant	MODERATE	NA18612.hp1 NA18612.hp1	a0015 a0015	a0015c0028 a0015c0028	a0015c0028t0001 a0015c0028t0001	a0015c0028t0001g0002 a0015c0028t0001g0002	1	432	0.0023	c.29C others(2): Show c.29C>T	p.Ala others(5): Show p.Ala10Val	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	1/5	39/1809	29/1683	10/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2249478	G G	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(274): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(8): Show a0001 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0015 a0016	a0001c0001 a0001c0005 a0001c0013 others(12): Show a0001c0001 a0001c0005 a0001c0013 a0001c0023 a0001c0027 a0004c0012 a0005c0019 a0006c0020 a0007c0025 a0008c0024 a0009c0022 a0010c0026 a0011c0021 a0015c0028 a0016c0014	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0013t0001 a0001c0023t0001 a0001c0027t0001 a0004c0012t0001 a0005c0019t0001 a0006c0020t0001 a0007c0025t0001 a0008c0024t0001 a0009c0022t0001 a0010c0026t0001 a0011c0021t0001 a0015c0028t0001 a0016c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(27): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0005t0001g0001 a0001c0005t0001g0002 a0001c0005t0001g0006 a0001c0013t0001g0002 a0001c0023t0001g0001 a0001c0027t0001g0001 a0004c0012t0001g0002 a0005c0019t0001g0002 a0006c0020t0001g0001 a0007c0025t0001g0002 a0008c0024t0001g0002 a0009c0022t0001g0001 a0010c0026t0001g0002 a0011c0021t0001g0002 a0015c0028t0001g0002 a0016c0014t0001g0002	277	432	0.6412	c.146 others(3): Show c.146G>T	p.Ser others(5): Show p.Ser49Ile	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	1/5	156/1809	146/1683	49/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2249700	G G	A A	missense_variant missense_variant	MODERATE	NA18984.hp1 NA18984.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0001 a0005c0019t0001	a0005c0019t0001g0002 a0005c0019t0001g0002	1	432	0.0023	c.368 others(3): Show c.368G>A	p.Arg others(6): Show p.Arg123Gln	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	1/5	378/1809	368/1683	123/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2249714	C C	G G	missense_variant missense_variant	MODERATE	NA19012.hp2 NA19012.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0008 a0012c0018t0001g0008	1	432	0.0023	c.382 others(3): Show c.382C>G	p.Gln others(6): Show p.Gln128Glu	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	1/5	392/1809	382/1683	128/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2249717	C C	G G	missense_variant missense_variant	MODERATE	NA19012.hp2 NA19012.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0008 a0012c0018t0001g0008	1	432	0.0023	c.385 others(3): Show c.385C>G	p.Arg others(6): Show p.Arg129Gly	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	1/5	395/1809	385/1683	129/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2249724	T T	G G	missense_variant missense_variant	MODERATE	NA19012.hp2 NA19012.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0008 a0012c0018t0001g0008	1	432	0.0023	c.392 others(3): Show c.392T>G	p.Val others(6): Show p.Val131Gly	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	1/5	402/1809	392/1683	131/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2249727	T T	G G	missense_variant missense_variant	MODERATE	NA19012.hp2 NA19012.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0008 a0012c0018t0001g0008	1	432	0.0023	c.395 others(3): Show c.395T>G	p.Val others(6): Show p.Val132Gly	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	1/5	405/1809	395/1683	132/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2249732	C C	A A	missense_variant missense_variant	MODERATE	NA19012.hp2 NA19012.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0008 a0012c0018t0001g0008	1	432	0.0023	c.400 others(3): Show c.400C>A	p.His others(6): Show p.His134Asn	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	1/5	410/1809	400/1683	134/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2249735	C C	G G	missense_variant missense_variant	MODERATE	NA19012.hp2 NA19012.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0008 a0012c0018t0001g0008	1	432	0.0023	c.403 others(3): Show c.403C>G	p.Leu others(6): Show p.Leu135Val	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	1/5	413/1809	403/1683	135/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2249736	T T	G G	missense_variant missense_variant	MODERATE	NA19012.hp2 NA19012.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0008 a0012c0018t0001g0008	1	432	0.0023	c.404 others(3): Show c.404T>G	p.Leu others(6): Show p.Leu135Arg	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	1/5	414/1809	404/1683	135/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2250352	C C	T T	missense_variant missense_variant	MODERATE	HG01109.hp1 homoSapiens_chm13v2.hp1 HG01109.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0002 a0004c0012t0001g0002	2	432	0.0046	c.428 others(3): Show c.428C>T	p.Thr others(6): Show p.Thr143Ile	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	2/5	438/1809	428/1683	143/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2250752	G G	A A	missense_variant missense_variant	MODERATE	HG03453.hp2 HG03453.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0001 a0006c0020t0001	a0006c0020t0001g0001 a0006c0020t0001g0001	1	432	0.0023	c.656 others(3): Show c.656G>A	p.Arg others(6): Show p.Arg219His	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	3/5	666/1809	656/1683	219/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2250974	G G	A A	missense_variant missense_variant	MODERATE	NA18987.hp2 NA18987.hp2	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0001 a0011c0021t0001	a0011c0021t0001g0002 a0011c0021t0001g0002	1	432	0.0023	c.790 others(3): Show c.790G>A	p.Gly others(6): Show p.Gly264Ser	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	4/5	800/1809	790/1683	264/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2251138	C C	G G	missense_variant missense_variant	MODERATE	NA20805.hp1 NA20805.hp1	a0010 a0010	a0010c0026 a0010c0026	a0010c0026t0001 a0010c0026t0001	a0010c0026t0001g0002 a0010c0026t0001g0002	1	432	0.0023	c.864 others(3): Show c.864C>G	p.Asp others(6): Show p.Asp288Glu	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	5/5	874/1809	864/1683	288/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2251248	A A	G G	missense_variant missense_variant	MODERATE	HG01433.hp1 HG01433.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0001 a0014c0015t0001	a0014c0015t0001g0003 a0014c0015t0001g0003	1	432	0.0023	c.974 others(3): Show c.974A>G	p.Gln others(6): Show p.Gln325Arg	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	5/5	984/1809	974/1683	325/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2251265	T T	C C	missense_variant missense_variant	MODERATE	HG02559.hp2 HG02559.hp2	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0001 a0013c0017t0001	a0013c0017t0001g0001 a0013c0017t0001g0001	1	432	0.0023	c.991 others(3): Show c.991T>C	p.Ser others(6): Show p.Ser331Pro	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	5/5	1001/1809	991/1683	331/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2251400	G G	A A	missense_variant missense_variant	MODERATE	HG00733.hp2 HG00733.hp2	a0009 a0009	a0009c0022 a0009c0022	a0009c0022t0001 a0009c0022t0001	a0009c0022t0001g0001 a0009c0022t0001g0001	1	432	0.0023	c.112 others(4): Show c.1126G>A	p.Ala others(6): Show p.Ala376Thr	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	5/5	1136/1809	1126/1683	376/560	chr19	TogoVar
AMH_chr19_2244323_2257073	2251812	T T	C C	missense_variant missense_variant	MODERATE	HG03017.hp2 HG03017.hp2	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0001 a0008c0024t0001	a0008c0024t0001g0002 a0008c0024t0001g0002	1	432	0.0023	c.153 others(4): Show c.1538T>C	p.Met others(6): Show p.Met513Thr	AMH	ENSG00000104899.8	transcript	ENST00000221496.5	protein_coding	5/5	1548/1809	1538/1683	513/560	chr19	TogoVar

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