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
ASCL2_chr11_2263498_2275588	2270105	G G	A A	synonymous_variant synonymous_variant	LOW	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0022 a0001c0007t0001g0022	1	420	0.0024	c.228 others(3): Show c.228C>T	p.His others(5): Show p.His76His	ASCL2	ENSG00000183734.5	transcript	ENST00000331289.5	protein_coding	1/2	484/1485	228/582	76/193	chr11	TogoVar
ASCL2_chr11_2263498_2275588	2270282	A A	G G	synonymous_variant synonymous_variant	LOW	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0019 a0001c0003t0001g0019	1	420	0.0024	c.51T others(2): Show c.51T>C	p.Pro others(5): Show p.Pro17Pro	ASCL2	ENSG00000183734.5	transcript	ENST00000331289.5	protein_coding	1/2	307/1485	51/582	17/193	chr11	TogoVar
ASCL2_chr11_2263498_2275588	2270297	A A	C C	synonymous_variant synonymous_variant	LOW	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0012 a0002c0008t0012	a0002c0008t0012g0023 a0002c0008t0012g0023	1	420	0.0024	c.36T others(2): Show c.36T>G	p.Pro others(5): Show p.Pro12Pro	ASCL2	ENSG00000183734.5	transcript	ENST00000331289.5	protein_coding	1/2	292/1485	36/582	12/193	chr11	TogoVar
ASCL2_chr11_2263498_2275588	2270300	G G	C C	synonymous_variant synonymous_variant	LOW	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0012 a0002c0008t0012	a0002c0008t0012g0023 a0002c0008t0012g0023	1	420	0.0024	c.33C others(2): Show c.33C>G	p.Pro others(5): Show p.Pro11Pro	ASCL2	ENSG00000183734.5	transcript	ENST00000331289.5	protein_coding	1/2	289/1485	33/582	11/193	chr11	TogoVar
ASCL2_chr11_2263498_2275588	2270306	G G	T T	synonymous_variant synonymous_variant	LOW	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0012 a0002c0008t0012	a0002c0008t0012g0023 a0002c0008t0012g0023	1	420	0.0024	c.27C others(2): Show c.27C>A	p.Ser others(4): Show p.Ser9Ser	ASCL2	ENSG00000183734.5	transcript	ENST00000331289.5	protein_coding	1/2	283/1485	27/582	9/193	chr11	TogoVar
ASCL2_chr11_2263498_2275588	2270318	T T	A A	synonymous_variant synonymous_variant	LOW	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0012 a0002c0008t0012	a0002c0008t0012g0023 a0002c0008t0012g0023	1	420	0.0024	c.15A others(2): Show c.15A>T	p.Thr others(4): Show p.Thr5Thr	ASCL2	ENSG00000183734.5	transcript	ENST00000331289.5	protein_coding	1/2	271/1485	15/582	5/193	chr11	TogoVar
ASCL2_chr11_2263498_2275588	2270321	G G	C C	synonymous_variant synonymous_variant	LOW	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0012 a0002c0008t0012	a0002c0008t0012g0023 a0002c0008t0012g0023	1	420	0.0024	c.12C others(2): Show c.12C>G	p.Gly others(4): Show p.Gly4Gly	ASCL2	ENSG00000183734.5	transcript	ENST00000331289.5	protein_coding	1/2	268/1485	12/582	4/193	chr11	TogoVar
ASCL3_chr11_8932578_8948016	8937823	G G	A A	synonymous_variant synonymous_variant	LOW	HG00280.hp2 HG00544.hp1 HG00558.hp1 others(85): Show HG00280.hp2 HG00544.hp1 HG00558.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02602.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02818.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03486.hp1 HG03490.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18940.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18975.hp2 NA18979.hp2 NA18983.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA19010.hp1 NA19058.hp1 NA19060.hp1 NA19075.hp2 NA19078.hp1 NA19080.hp2 NA19086.hp2 NA19087.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0007 a0002c0003 a0002c0004 others(1): Show a0001c0007 a0002c0003 a0002c0004 a0008c0008	a0001c0007t0001 a0002c0003t0001 a0002c0004t0001 others(1): Show a0001c0007t0001 a0002c0003t0001 a0002c0004t0001 a0008c0008t0001	a0001c0007t0001g0015 a0002c0003t0001g0003 a0002c0003t0001g0020 others(12): Show a0001c0007t0001g0015 a0002c0003t0001g0003 a0002c0003t0001g0020 a0002c0003t0001g0043 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0004t0001g0006 a0002c0004t0001g0007 a0002c0004t0001g0021 a0002c0004t0001g0029 a0002c0004t0001g0044 a0002c0004t0001g0046 a0002c0004t0001g0047 a0008c0008t0001g0045	88	440	0.2000	c.339 others(3): Show c.339C>T	p.Tyr others(6): Show p.Tyr113Tyr	ASCL3	ENSG00000176009.4	transcript	ENST00000531618.2	protein_coding	2/2	382/627	339/546	113/181	chr11	TogoVar
ASCL3_chr11_8932578_8948016	8937964	T T	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(313): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.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 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0007	a0001c0001 a0001c0007 a0001c0012 others(5): Show a0001c0001 a0001c0007 a0001c0012 a0002c0003 a0004c0013 a0005c0009 a0006c0010 a0007c0011	a0001c0001t0001 a0001c0007t0001 a0001c0012t0001 others(5): Show a0001c0001t0001 a0001c0007t0001 a0001c0012t0001 a0002c0003t0001 a0004c0013t0001 a0005c0009t0001 a0006c0010t0001 a0007c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0007t0001g0015 a0001c0012t0001g0061 a0002c0003t0001g0003 a0002c0003t0001g0020 a0002c0003t0001g0043 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0051 a0004c0013t0001g0056 a0005c0009t0001g0060 a0006c0010t0001g0055 a0007c0011t0001g0062	316	440	0.7182	c.198 others(3): Show c.198A>C	p.Gly others(5): Show p.Gly66Gly	ASCL3	ENSG00000176009.4	transcript	ENST00000531618.2	protein_coding	2/2	241/627	198/546	66/181	chr11	TogoVar
ASCL3_chr11_8932578_8948016	8938048	G G	A A	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0061 a0001c0012t0001g0061	1	440	0.0023	c.114 others(3): Show c.114C>T	p.His others(5): Show p.His38His	ASCL3	ENSG00000176009.4	transcript	ENST00000531618.2	protein_coding	2/2	157/627	114/546	38/181	chr11	TogoVar
ASCL4_chr12_107769704_107781644	107775635	C C	T T	synonymous_variant synonymous_variant	LOW	HG03942.hp2 HG04184.hp2 HG03942.hp2 HG04184.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0000 a0001c0004t0002g0000	2	462	0.0043	c.417 others(3): Show c.417C>T	p.Ala others(6): Show p.Ala139Ala	ASCL4	ENSG00000187855.6	transcript	ENST00000342331.5	protein_coding	1/1	932/1941	417/519	139/172	chr12	TogoVar
ASF1B_chr19_14114512_14141589	14120513	C C	G G	synonymous_variant synonymous_variant	LOW	HG00733.hp1 HG01069.hp1 HG01071.hp2 others(78): Show HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03688.hp1 HG04115.hp1 HG06807.hp2 NA18942.hp1 NA18947.hp1 NA18950.hp2 NA18954.hp2 NA18956.hp1 NA18959.hp1 NA18963.hp2 NA18971.hp1 NA18973.hp2 NA18984.hp1 NA18997.hp2 NA19002.hp1 NA19009.hp2 NA19043.hp2 NA19057.hp1 NA19077.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 others(3): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0003t0006	a0001c0002t0002g0004 a0001c0002t0002g0028 a0001c0002t0002g0031 others(61): Show a0001c0002t0002g0004 a0001c0002t0002g0028 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0038 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0153 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0228 a0001c0002t0004g0192 a0001c0002t0004g0193 a0001c0002t0004g0236 a0001c0002t0004g0237 a0001c0002t0005g0039 a0001c0002t0005g0241 a0001c0002t0005g0242 a0001c0002t0008g0037 a0001c0002t0009g0215 a0001c0003t0006g0190 a0001c0003t0006g0191 a0001c0003t0006g0212	81	334	0.2425	c.555 others(3): Show c.555G>C	p.Gly others(6): Show p.Gly185Gly	ASF1B	ENSG00000105011.9	transcript	ENST00000263382.8	protein_coding	4/4	688/1689	555/609	185/202	chr19	TogoVar
ASF1B_chr19_14114512_14141589	14120518	A A	G G	synonymous_variant synonymous_variant	LOW	HG00733.hp1 HG01069.hp1 HG01071.hp2 others(75): Show HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02055.hp2 HG02083.hp2 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03688.hp1 HG04115.hp1 HG06807.hp2 NA18942.hp1 NA18947.hp1 NA18950.hp2 NA18954.hp2 NA18956.hp1 NA18959.hp1 NA18963.hp2 NA18971.hp1 NA18973.hp2 NA18984.hp1 NA18997.hp2 NA19002.hp1 NA19009.hp2 NA19043.hp2 NA19057.hp1 NA19077.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 others(2): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009	a0001c0002t0002g0004 a0001c0002t0002g0028 a0001c0002t0002g0031 others(58): Show a0001c0002t0002g0004 a0001c0002t0002g0028 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0038 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0153 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0228 a0001c0002t0004g0192 a0001c0002t0004g0193 a0001c0002t0004g0236 a0001c0002t0004g0237 a0001c0002t0005g0039 a0001c0002t0005g0241 a0001c0002t0005g0242 a0001c0002t0008g0037 a0001c0002t0009g0215	78	334	0.2335	c.550 others(3): Show c.550T>C	p.Leu others(6): Show p.Leu184Leu	ASF1B	ENSG00000105011.9	transcript	ENST00000263382.8	protein_coding	4/4	683/1689	550/609	184/202	chr19	TogoVar
ASGR1_chr17_7168431_7184370	7173806	G G	A A	synonymous_variant synonymous_variant	LOW	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0077 a0001c0004t0001g0077	1	442	0.0023	c.729 others(3): Show c.729C>T	p.Asp others(6): Show p.Asp243Asp	ASGR1	ENSG00000141505.12	transcript	ENST00000269299.8	protein_coding	9/9	935/1310	729/876	243/291	chr17	TogoVar
ASGR1_chr17_7168431_7184370	7174423	C C	T T	synonymous_variant synonymous_variant	LOW	HG00609.hp2 HG01167.hp1 HG02109.hp1 others(13): Show HG00609.hp2 HG01167.hp1 HG02109.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03130.hp2 HG03139.hp1 HG03486.hp2 HG03688.hp1 HG03831.hp1 HG06807.hp1 NA18955.hp1 NA18986.hp2 NA19012.hp1 NA19054.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0005 a0001c0003 a0003c0005	a0001c0003t0001 a0001c0003t0004 a0003c0005t0004 a0001c0003t0001 a0001c0003t0004 a0003c0005t0004	a0001c0003t0001g0018 a0001c0003t0001g0092 a0001c0003t0001g0098 others(8): Show a0001c0003t0001g0018 a0001c0003t0001g0092 a0001c0003t0001g0098 a0001c0003t0001g0110 a0001c0003t0001g0140 a0001c0003t0004g0028 a0001c0003t0004g0156 a0001c0003t0004g0157 a0001c0003t0004g0158 a0001c0003t0004g0159 a0003c0005t0004g0160	16	442	0.0362	c.393 others(3): Show c.393G>A	p.Val others(6): Show p.Val131Val	ASGR1	ENSG00000141505.12	transcript	ENST00000269299.8	protein_coding	6/9	599/1310	393/876	131/291	chr17	TogoVar
ASGR1_chr17_7168431_7184370	7176997	C C	T T	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00280.hp2 HG00423.hp2 others(102): Show HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp2 HG01069.hp1 HG01071.hp1 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02132.hp2 HG02155.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp2 HG02622.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG03490.hp2 HG03492.hp1 HG03688.hp2 HG03942.hp1 HG04184.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp2 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp1 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp1 NA18991.hp1 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19087.hp1 NA19090.hp1 NA19091.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001	a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0010 others(15): Show a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0010 a0001c0002t0001g0019 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0095 a0001c0002t0001g0102 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0002g0076 a0001c0002t0002g0103 a0001c0004t0001g0077	105	442	0.2376	c.267 others(3): Show c.267G>A	p.Lys others(5): Show p.Lys89Lys	ASGR1	ENSG00000141505.12	transcript	ENST00000269299.8	protein_coding	4/9	473/1310	267/876	89/291	chr17	TogoVar
ASGR2_chr17_7096326_7119822	7101587	G G	A A	synonymous_variant synonymous_variant	LOW	HG00544.hp1 HG00738.hp1 HG04204.hp2 others(6): Show HG00544.hp1 HG00738.hp1 HG04204.hp2 NA18939.hp1 NA18948.hp1 NA18952.hp1 NA18983.hp1 NA19012.hp1 NA19070.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0012 a0001c0003t0001g0185 a0001c0003t0001g0189 others(4): Show a0001c0003t0001g0012 a0001c0003t0001g0185 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0003t0001g0203 a0001c0003t0001g0209	9	432	0.0208	c.909 others(3): Show c.909C>T	p.Gly others(6): Show p.Gly303Gly	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	9/9	1187/1448	909/921	303/306	chr17	TogoVar
ASGR2_chr17_7096326_7119822	7101608	C C	T T	synonymous_variant synonymous_variant	LOW	HG01358.hp2 HG01515.hp2 HG01517.hp2 others(1): Show HG01358.hp2 HG01515.hp2 HG01517.hp2 NA20752.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0013 a0001c0005t0001g0197 a0001c0005t0001g0013 a0001c0005t0001g0197	4	432	0.0093	c.888 others(3): Show c.888G>A	p.Glu others(6): Show p.Glu296Glu	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	9/9	1166/1448	888/921	296/306	chr17	TogoVar
ASGR2_chr17_7096326_7119822	7101647	G G	A A	synonymous_variant synonymous_variant	LOW	HG02109.hp1 HG02572.hp1 HG02886.hp1 others(4): Show HG02109.hp1 HG02572.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG03486.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0015 a0001c0004t0007g0176 a0001c0004t0007g0205 others(2): Show a0001c0004t0007g0015 a0001c0004t0007g0176 a0001c0004t0007g0205 a0001c0004t0007g0206 a0001c0004t0007g0207	7	432	0.0162	c.849 others(3): Show c.849C>T	p.Asn others(6): Show p.Asn283Asn	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	9/9	1127/1448	849/921	283/306	chr17	TogoVar
ASGR2_chr17_7096326_7119822	7102146	C C	T T	synonymous_variant synonymous_variant	LOW	NA19066.hp2 NA19090.hp2 NA19066.hp2 NA19090.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0027 a0001c0009t0002g0027	2	432	0.0046	c.699 others(3): Show c.699G>A	p.Thr others(6): Show p.Thr233Thr	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	8/9	977/1448	699/921	233/306	chr17	TogoVar
ASGR2_chr17_7096326_7119822	7107006	C C	T T	synonymous_variant synonymous_variant	LOW	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0069 a0001c0012t0002g0069	1	432	0.0023	c.642 others(3): Show c.642G>A	p.Glu others(6): Show p.Glu214Glu	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	7/9	920/1448	642/921	214/306	chr17	TogoVar
ASGR2_chr17_7096326_7119822	7107084	G G	A A	synonymous_variant synonymous_variant	LOW	HG02055.hp2 HG02451.hp2 HG02572.hp2 others(4): Show HG02055.hp2 HG02451.hp2 HG02572.hp2 HG02647.hp1 HG03130.hp1 HG03579.hp1 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0006 a0001c0010 a0004c0015 a0001c0006 a0001c0010 a0004c0015	a0001c0006t0005 a0001c0006t0006 a0001c0010t0009 others(1): Show a0001c0006t0005 a0001c0006t0006 a0001c0010t0009 a0004c0015t0001	a0001c0006t0005g0268 a0001c0006t0006g0109 a0001c0006t0006g0110 others(4): Show a0001c0006t0005g0268 a0001c0006t0006g0109 a0001c0006t0006g0110 a0001c0006t0006g0111 a0001c0010t0009g0168 a0001c0010t0009g0169 a0004c0015t0001g0215	7	432	0.0162	c.564 others(3): Show c.564C>T	p.His others(6): Show p.His188His	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	7/9	842/1448	564/921	188/306	chr17	TogoVar
ASGR2_chr17_7096326_7119822	7107129	G G	A A	synonymous_variant synonymous_variant	LOW	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0301 a0001c0016t0003g0301	1	432	0.0023	c.519 others(3): Show c.519C>T	p.Pro others(6): Show p.Pro173Pro	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	7/9	797/1448	519/921	173/306	chr17	TogoVar
ASGR2_chr17_7096326_7119822	7107265	G G	A A	synonymous_variant synonymous_variant	LOW	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0248 a0001c0017t0001g0248	1	432	0.0023	c.462 others(3): Show c.462C>T	p.Phe others(6): Show p.Phe154Phe	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	6/9	740/1448	462/921	154/306	chr17	TogoVar
ASGR2_chr17_7096326_7119822	7107906	T T	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00423.hp1 HG00609.hp1 HG00738.hp2 others(39): Show HG00423.hp1 HG00609.hp1 HG00738.hp2 HG01074.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01884.hp1 HG02004.hp2 HG02056.hp1 HG02083.hp2 HG02109.hp2 HG02257.hp1 HG02486.hp2 HG02615.hp2 HG02647.hp1 HG02723.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03579.hp1 NA18747.hp1 NA18944.hp1 NA18951.hp2 NA18957.hp2 NA18961.hp2 NA18967.hp1 NA18973.hp1 NA18983.hp2 NA18990.hp2 NA18995.hp1 NA18999.hp1 NA19004.hp1 NA19072.hp1 NA19075.hp1 NA19080.hp2 NA19085.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0010 a0001c0017 a0001c0002 a0001c0010 a0001c0017	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0011 a0001c0010t0009 a0001c0017t0001	a0001c0002t0001g0011 a0001c0002t0001g0017 a0001c0002t0001g0040 others(31): Show a0001c0002t0001g0011 a0001c0002t0001g0017 a0001c0002t0001g0040 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0216 a0001c0002t0001g0219 a0001c0002t0001g0228 a0001c0002t0001g0234 a0001c0002t0001g0237 a0001c0002t0001g0254 a0001c0002t0002g0062 a0001c0002t0002g0073 a0001c0002t0002g0091 a0001c0002t0002g0108 a0001c0002t0003g0019 a0001c0002t0003g0046 a0001c0002t0003g0280 a0001c0002t0003g0282 a0001c0002t0003g0284 a0001c0002t0003g0287 a0001c0002t0003g0288 a0001c0002t0003g0291 a0001c0002t0003g0296 a0001c0002t0003g0298 a0001c0002t0004g0302 a0001c0002t0008g0292 a0001c0002t0011g0051 a0001c0002t0011g0052 a0001c0010t0009g0168 a0001c0010t0009g0169 a0001c0017t0001g0248	42	432	0.0972	c.339 others(3): Show c.339A>C	p.Gly others(6): Show p.Gly113Gly	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	5/9	617/1448	339/921	113/306	chr17	TogoVar
ASGR2_chr17_7096326_7119822	7108779	C C	A A	synonymous_variant synonymous_variant	LOW	HG02622.hp1 HG02723.hp1 HG03209.hp2 HG02622.hp1 HG02723.hp1 HG03209.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0032 a0001c0008t0001g0172 a0001c0008t0001g0032 a0001c0008t0001g0172	3	432	0.0069	c.234 others(3): Show c.234G>T	p.Gly others(5): Show p.Gly78Gly	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	3/9	512/1448	234/921	78/306	chr17	TogoVar
ASGR2_chr17_7096326_7119822	7114163	T T	C C	synonymous_variant synonymous_variant	LOW	HG03130.hp2 NA18522.hp1 HG03130.hp2 NA18522.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0263 a0001c0011t0001g0264 a0001c0011t0001g0263 a0001c0011t0001g0264	2	432	0.0046	c.78A others(2): Show c.78A>G	p.Pro others(5): Show p.Pro26Pro	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	2/9	356/1448	78/921	26/306	chr17	TogoVar
ASH1L_chr1_155330268_155567803	155370644	C C	T T	synonymous_variant synonymous_variant	LOW	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0035 a0001c0010t0001g0035	1	182	0.0055	c.654 others(4): Show c.6546G>A	p.Arg others(7): Show p.Arg2182Arg	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	12/28	7296/12037	6546/8895	2182/2964	chr1	TogoVar
ASH1L_chr1_155330268_155567803	155438845	G G	T T	synonymous_variant synonymous_variant	LOW	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0015 a0001c0009t0015	a0001c0009t0015g0009 a0001c0009t0015g0009	1	182	0.0055	c.531 others(4): Show c.5310C>A	p.Val others(7): Show p.Val1770Val	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	5/28	6060/12037	5310/8895	1770/2964	chr1	TogoVar
ASH1L_chr1_155330268_155567803	155438956	A A	G G	synonymous_variant synonymous_variant	LOW	HG03453.hp1 NA19240.hp2 HG03453.hp1 NA19240.hp2	a0001 a0011 a0001 a0011	a0001c0008 a0011c0014 a0001c0008 a0011c0014	a0001c0008t0002 a0011c0014t0002 a0001c0008t0002 a0011c0014t0002	a0001c0008t0002g0168 a0011c0014t0002g0173 a0001c0008t0002g0168 a0011c0014t0002g0173	2	182	0.0110	c.519 others(4): Show c.5199T>C	p.Ser others(7): Show p.Ser1733Ser	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	5/28	5949/12037	5199/8895	1733/2964	chr1	TogoVar
ASH1L_chr1_155330268_155567803	155438980	C C	T T	synonymous_variant synonymous_variant	LOW	NA19240.hp2 NA19240.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0002 a0011c0014t0002	a0011c0014t0002g0173 a0011c0014t0002g0173	1	182	0.0055	c.517 others(4): Show c.5175G>A	p.Glu others(7): Show p.Glu1725Glu	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	5/28	5925/12037	5175/8895	1725/2964	chr1	TogoVar
ASH1L_chr1_155330268_155567803	155478670	G G	A A	synonymous_variant synonymous_variant	LOW	HG01891.hp1 HG02451.hp1 HG02630.hp1 HG01891.hp1 HG02451.hp1 HG02630.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0005 a0004c0004t0004g0006 a0004c0004t0004g0007 a0004c0004t0004g0005 a0004c0004t0004g0006 a0004c0004t0004g0007	3	182	0.0165	c.420 others(4): Show c.4200C>T	p.Tyr others(7): Show p.Tyr1400Tyr	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	3/28	4950/12037	4200/8895	1400/2964	chr1	TogoVar
ASH1L_chr1_155330268_155567803	155480445	G G	A A	synonymous_variant synonymous_variant	LOW	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0014 a0001c0015t0014	a0001c0015t0014g0008 a0001c0015t0014g0008	1	182	0.0055	c.242 others(4): Show c.2425C>T	p.Leu others(6): Show p.Leu809Leu	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	3/28	3175/12037	2425/8895	809/2964	chr1	TogoVar
ASH1L_chr1_155330268_155567803	155481244	G G	A A	synonymous_variant synonymous_variant	LOW	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0138 a0001c0016t0001g0138	1	182	0.0055	c.162 others(4): Show c.1626C>T	p.Thr others(6): Show p.Thr542Thr	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	3/28	2376/12037	1626/8895	542/2964	chr1	TogoVar
ASH1L_chr1_155330268_155567803	155481928	C C	T T	synonymous_variant synonymous_variant	LOW	HG01891.hp1 HG02451.hp1 HG02630.hp1 HG01891.hp1 HG02451.hp1 HG02630.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0005 a0004c0004t0004g0006 a0004c0004t0004g0007 a0004c0004t0004g0005 a0004c0004t0004g0006 a0004c0004t0004g0007	3	182	0.0165	c.942 others(3): Show c.942G>A	p.Ala others(6): Show p.Ala314Ala	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	3/28	1692/12037	942/8895	314/2964	chr1	TogoVar
ASH1L_chr1_155330268_155567803	155481979	T T	C C	synonymous_variant synonymous_variant	LOW	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0059 a0001c0017t0001g0059	1	182	0.0055	c.891 others(3): Show c.891A>G	p.Val others(6): Show p.Val297Val	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	3/28	1641/12037	891/8895	297/2964	chr1	TogoVar
ASH2L_chr8_38100529_38145080	38105559	G G	A A	synonymous_variant synonymous_variant	LOW	HG02976.hp2 HG03579.hp1 NA21309.hp1 HG02976.hp2 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0062 a0001c0004t0001g0063 a0001c0004t0001g0082 a0001c0004t0001g0062 a0001c0004t0001g0063 a0001c0004t0001g0082	3	330	0.0091	c.9G> others(1): Show c.9G>A	p.Ala others(4): Show p.Ala3Ala	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding	1/16	31/2918	9/1887	3/628	chr8	TogoVar
ASH2L_chr8_38100529_38145080	38105721	C C	T T	synonymous_variant synonymous_variant	LOW	HG00423.hp1 HG00544.hp1 HG00544.hp2 others(63): Show HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01496.hp2 HG01934.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02083.hp2 HG02132.hp1 HG02273.hp2 HG02300.hp2 HG03017.hp2 HG03471.hp1 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18944.hp1 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18975.hp2 NA18980.hp2 NA18982.hp2 NA18986.hp2 NA18990.hp2 NA18998.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19058.hp1 NA19063.hp2 NA19066.hp1 NA19074.hp2 NA19075.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0010t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(51): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0061 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0003g0281 a0001c0002t0004g0001 a0001c0010t0001g0017	66	330	0.2000	c.171 others(3): Show c.171C>T	p.Ser others(5): Show p.Ser57Ser	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding	1/16	193/2918	171/1887	57/628	chr8	TogoVar
ASH2L_chr8_38100529_38145080	38128337	G G	A A	synonymous_variant synonymous_variant	LOW	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0079 a0001c0008t0001g0079	1	330	0.0030	c.121 others(4): Show c.1212G>A	p.Glu others(6): Show p.Glu404Glu	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding	11/16	1234/2918	1212/1887	404/628	chr8	TogoVar
ASH2L_chr8_38100529_38145080	38128379	A A	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(239): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19075.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0008 a0003c0005 others(1): Show a0001c0001 a0001c0008 a0003c0005 a0004c0007	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0008t0001 a0003c0005t0001 a0004c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(230): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 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 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0006g0020 a0001c0001t0007g0204 a0001c0001t0008g0258 a0001c0001t0009g0009 a0001c0008t0001g0079 a0003c0005t0001g0192 a0003c0005t0001g0193 a0003c0005t0001g0194 a0004c0007t0001g0234 a0004c0007t0001g0239	242	330	0.7333	c.125 others(4): Show c.1254A>G	p.Lys others(6): Show p.Lys418Lys	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding	11/16	1276/2918	1254/1887	418/628	chr8	TogoVar
ASH2L_chr8_38100529_38145080	38128427	C C	T T	synonymous_variant synonymous_variant	LOW	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0017 a0001c0010t0001g0017	1	330	0.0030	c.130 others(4): Show c.1302C>T	p.Thr others(6): Show p.Thr434Thr	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding	11/16	1324/2918	1302/1887	434/628	chr8	TogoVar
ASIC1_chr12_50052596_50088611	50058844	A A	G G	synonymous_variant synonymous_variant	LOW	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0096 a0001c0010t0001g0096	1	324	0.0031	c.78A others(2): Show c.78A>G	p.Thr others(5): Show p.Thr26Thr	ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding	2/12	415/3886	78/1587	26/528	chr12	TogoVar
ASIC1_chr12_50052596_50088611	50058925	C C	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(279): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0002c0008 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 a0001c0004t0001 a0001c0004t0006 a0001c0005t0001 a0001c0006t0001 a0001c0006t0011 a0001c0007t0001 a0001c0010t0001 a0002c0008t0001 a0003c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(148): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0043 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0123 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0003g0008 a0001c0001t0003g0060 a0001c0001t0003g0119 a0001c0001t0005g0005 a0001c0001t0008g0074 a0001c0001t0009g0144 a0001c0001t0010g0010 a0001c0001t0012g0003 a0001c0001t0013g0040 a0001c0001t0014g0097 a0001c0003t0001g0028 a0001c0003t0001g0061 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0071 a0001c0003t0001g0165 a0001c0003t0004g0062 a0001c0003t0004g0063 a0001c0003t0004g0064 a0001c0003t0004g0065 a0001c0003t0004g0070 a0001c0003t0007g0066 a0001c0003t0007g0067 a0001c0004t0001g0052 a0001c0004t0001g0111 a0001c0004t0001g0112 a0001c0004t0001g0113 a0001c0004t0001g0120 a0001c0004t0001g0121 a0001c0004t0006g0038 a0001c0004t0006g0137 a0001c0005t0001g0001 a0001c0006t0001g0127 a0001c0006t0011g0128 a0001c0007t0001g0125 a0001c0007t0001g0126 a0001c0010t0001g0096 a0002c0008t0001g0036 a0003c0009t0001g0004	282	324	0.8704	c.159 others(3): Show c.159C>G	p.Ser others(5): Show p.Ser53Ser	ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding	2/12	496/3886	159/1587	53/528	chr12	TogoVar
ASIC1_chr12_50052596_50088611	50058997	C C	G G	synonymous_variant synonymous_variant	LOW	HG02258.hp1 HG03486.hp2 HG02258.hp1 HG03486.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0125 a0001c0007t0001g0126 a0001c0007t0001g0125 a0001c0007t0001g0126	2	324	0.0062	c.231 others(3): Show c.231C>G	p.Leu others(5): Show p.Leu77Leu	ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding	2/12	568/3886	231/1587	77/528	chr12	TogoVar
ASIC1_chr12_50052596_50088611	50077326	C C	T T	synonymous_variant synonymous_variant	LOW	HG01109.hp1 HG02572.hp2 HG02630.hp1 others(7): Show HG01109.hp1 HG02572.hp2 HG02630.hp1 HG02976.hp2 HG03130.hp1 HG03225.hp1 HG03516.hp1 HG03516.hp2 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0010 a0001c0004 a0001c0010	a0001c0004t0001 a0001c0004t0006 a0001c0010t0001 a0001c0004t0001 a0001c0004t0006 a0001c0010t0001	a0001c0004t0001g0052 a0001c0004t0001g0111 a0001c0004t0001g0112 others(6): Show a0001c0004t0001g0052 a0001c0004t0001g0111 a0001c0004t0001g0112 a0001c0004t0001g0113 a0001c0004t0001g0120 a0001c0004t0001g0121 a0001c0004t0006g0038 a0001c0004t0006g0137 a0001c0010t0001g0096	10	324	0.0309	c.672 others(3): Show c.672C>T	p.Ile others(6): Show p.Ile224Ile	ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding	4/12	1009/3886	672/1587	224/528	chr12	TogoVar
ASIC1_chr12_50052596_50088611	50078082	C C	T T	synonymous_variant synonymous_variant	LOW	NA18970.hp2 NA18988.hp1 NA18995.hp1 others(1): Show NA18970.hp2 NA18988.hp1 NA18995.hp1 NA19011.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0001 a0001c0005t0001g0001	4	324	0.0124	c.792 others(3): Show c.792C>T	p.Gly others(6): Show p.Gly264Gly	ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding	5/12	1129/3886	792/1587	264/528	chr12	TogoVar
ASIC1_chr12_50052596_50088611	50079972	A A	G G	synonymous_variant synonymous_variant	LOW	HG01884.hp1 HG02055.hp1 HG02258.hp1 others(13): Show HG01884.hp1 HG02055.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02723.hp1 HG02922.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp2 NA18906.hp1 NA19043.hp1 NA19078.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 others(1): Show a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 a0001c0007t0001	a0001c0003t0001g0028 a0001c0003t0001g0061 a0001c0003t0001g0068 others(12): Show a0001c0003t0001g0028 a0001c0003t0001g0061 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0071 a0001c0003t0001g0165 a0001c0003t0004g0062 a0001c0003t0004g0063 a0001c0003t0004g0064 a0001c0003t0004g0065 a0001c0003t0004g0070 a0001c0003t0007g0066 a0001c0003t0007g0067 a0001c0007t0001g0125 a0001c0007t0001g0126	16	324	0.0494	c.112 others(4): Show c.1122A>G	p.Lys others(6): Show p.Lys374Lys	ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding	8/12	1459/3886	1122/1587	374/528	chr12	TogoVar
ASIC1_chr12_50052596_50088611	50080044	G G	A A	synonymous_variant synonymous_variant	LOW	HG03834.hp1 NA19007.hp2 HG03834.hp1 NA19007.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0011 a0001c0006t0001 a0001c0006t0011	a0001c0006t0001g0127 a0001c0006t0011g0128 a0001c0006t0001g0127 a0001c0006t0011g0128	2	324	0.0062	c.119 others(4): Show c.1194G>A	p.Glu others(6): Show p.Glu398Glu	ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding	8/12	1531/3886	1194/1587	398/528	chr12	TogoVar
ASIC2_chr17_33008087_33298295	33015995	G G	A A	synonymous_variant synonymous_variant	LOW	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0048 a0001c0007t0003g0048	1	240	0.0042	c.156 others(4): Show c.1566C>T	p.Asp others(6): Show p.Asp522Asp	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	9/10	2746/3750	1566/1692	522/563	chr17	TogoVar
ASIC2_chr17_33008087_33298295	33088971	T T	G G	synonymous_variant synonymous_variant	LOW	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0091 a0001c0006t0012g0091	1	240	0.0042	c.879 others(3): Show c.879A>C	p.Ala others(6): Show p.Ala293Ala	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	3/10	2059/3750	879/1692	293/563	chr17	TogoVar

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