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 per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
FAM166A_chr9_137238599_137252751	137245305	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(415): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.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 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.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 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.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 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 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 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 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.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 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.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 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0005 others(22): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0010 a0001c0012 a0001c0014 a0001c0016 a0001c0017 a0001c0018 a0001c0021 a0001c0022 a0001c0024 a0002c0003 a0003c0004 a0003c0019 a0004c0007 a0005c0009 a0006c0008 a0007c0025 a0008c0023 a0009c0020 a0010c0015 a0011c0013 a0012c0011	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(22): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 a0001c0010t0001 a0001c0012t0001 a0001c0014t0001 a0001c0016t0001 a0001c0017t0001 a0001c0018t0001 a0001c0021t0001 a0001c0022t0001 a0001c0024t0001 a0002c0003t0001 a0003c0004t0001 a0003c0019t0001 a0004c0007t0001 a0005c0009t0001 a0006c0008t0001 a0007c0025t0001 a0008c0023t0001 a0009c0020t0001 a0010c0015t0001 a0011c0013t0001 a0012c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(68): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0002t0001g0004 a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0036 a0001c0002t0001g0052 a0001c0002t0001g0070 a0001c0005t0001g0013 a0001c0005t0001g0061 a0001c0006t0001g0018 a0001c0006t0001g0050 a0001c0010t0001g0026 a0001c0012t0001g0058 a0001c0014t0001g0034 a0001c0016t0001g0037 a0001c0017t0001g0063 a0001c0018t0001g0039 a0001c0021t0001g0044 a0001c0022t0001g0049 a0001c0024t0001g0069 a0002c0003t0001g0003 a0002c0003t0001g0059 a0003c0004t0001g0005 a0003c0004t0001g0064 a0003c0019t0001g0040 a0004c0007t0001g0021 a0004c0007t0001g0071 a0005c0009t0001g0025 a0006c0008t0001g0038 a0006c0008t0001g0068 a0007c0025t0001g0045 a0008c0023t0001g0066 a0009c0020t0001g0041 a0010c0015t0001g0033 a0011c0013t0001g0031 a0012c0011t0001g0057	418	418	1.0000	0	c.522 others(5): Show c.522+2C>T		FAM166A	ENSG00000188163.8	transcript	ENST00000344774.6	protein_coding	3/6						chr9	TogoVar
FAM166B_chr9_35556831_35568878	35562396	A A	ATAGT ATAGT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00099.hp1 HG00438.hp1 HG00558.hp2 others(84): Show HG00099.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG01099.hp1 HG01891.hp2 HG01978.hp2 HG01993.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02148.hp1 HG02273.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02738.hp2 HG02976.hp2 HG03139.hp1 HG03225.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG06807.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18944.hp2 NA18947.hp1 NA18953.hp2 NA18954.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18976.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18999.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0003c0005 a0002c0003 a0003c0004 a0003c0005	a0002c0003t0001 a0002c0003t0002 a0003c0004t0001 others(1): Show a0002c0003t0001 a0002c0003t0002 a0003c0004t0001 a0003c0005t0001	a0002c0003t0001g0003 a0002c0003t0001g0015 a0002c0003t0001g0017 others(4): Show a0002c0003t0001g0003 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0002g0019 a0003c0004t0001g0006 a0003c0005t0001g0009	87	436	0.1995	4	c.719 others(11): Show c.719_722dupACTA	p.Tyr others(5): Show p.Tyr241fs	FAM166B	ENSG00000215187.13	transcript	ENST00000399742.7	protein_coding	5/6	772/1054	722/828	241/275			chr9	TogoVar
FAM86B1_chr8_12177106_12199082	12186421	G G	A A	stop_gained stop_gained	HIGH	HG01884.hp1 HG02109.hp2 HG02486.hp2 others(7): Show HG01884.hp1 HG02109.hp2 HG02486.hp2 HG02572.hp2 HG02717.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03491.hp2 NA19240.hp1	a0005 a0011 a0014 others(1): Show a0005 a0011 a0014 a0015	a0005c0007 a0005c0012 a0011c0013 others(2): Show a0005c0007 a0005c0012 a0011c0013 a0014c0030 a0015c0022	a0005c0007t0004 a0005c0007t0012 a0005c0012t0004 others(5): Show a0005c0007t0004 a0005c0007t0012 a0005c0012t0004 a0005c0012t0009 a0011c0013t0008 a0011c0013t0011 a0014c0030t0010 a0015c0022t0021	a0005c0007t0004g0025 a0005c0007t0004g0028 a0005c0007t0004g0029 others(7): Show a0005c0007t0004g0025 a0005c0007t0004g0028 a0005c0007t0004g0029 a0005c0007t0012g0032 a0005c0012t0004g0026 a0005c0012t0009g0027 a0011c0013t0008g0030 a0011c0013t0011g0033 a0014c0030t0010g0031 a0015c0022t0021g0140	10	176	0.0568	0	c.571 others(3): Show c.571C>T	p.Gln others(4): Show p.Gln191*	FAM86B1	ENSG00000186523.15	transcript	ENST00000448228.7	protein_coding	5/7	583/2403	571/891	191/296			chr8	TogoVar
FAM86B1_chr8_12177106_12199082	12189807	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00323.hp2 HG00423.hp1 HG00558.hp2 others(52): Show HG00323.hp2 HG00423.hp1 HG00558.hp2 HG01069.hp1 HG01099.hp1 HG01346.hp2 HG01515.hp2 HG01975.hp1 HG02015.hp1 HG02300.hp1 HG02523.hp2 HG02735.hp2 HG03139.hp1 HG03209.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 NA18940.hp2 NA18945.hp1 NA18947.hp2 NA18959.hp1 NA18961.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18984.hp1 NA18985.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19054.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19068.hp1 NA19070.hp1 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19082.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0005 a0001c0015 others(4): Show a0001c0001 a0001c0005 a0001c0015 a0001c0023 a0002c0017 a0007c0016 a0007c0020	a0001c0001t0002 a0001c0005t0002 a0001c0005t0013 others(7): Show a0001c0001t0002 a0001c0005t0002 a0001c0005t0013 a0001c0005t0016 a0001c0005t0017 a0001c0015t0007 a0001c0023t0001 a0002c0017t0002 a0007c0016t0002 a0007c0020t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0006 others(39): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0036 a0001c0001t0002g0048 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0141 a0001c0005t0002g0018 a0001c0005t0002g0074 a0001c0005t0002g0110 a0001c0005t0002g0111 a0001c0005t0002g0112 a0001c0005t0002g0118 a0001c0005t0002g0120 a0001c0005t0013g0077 a0001c0005t0016g0109 a0001c0005t0017g0107 a0001c0015t0007g0010 a0001c0023t0001g0072 a0002c0017t0002g0039 a0002c0017t0002g0121 a0007c0016t0002g0073 a0007c0020t0002g0079	55	176	0.3125	0	c.240 others(5): Show c.240+1G>A		FAM86B1	ENSG00000186523.15	transcript	ENST00000448228.7	protein_coding	3/6						chr8	TogoVar
FAM86B1_chr8_12177106_12199082	12189832	G G	T T	stop_gained stop_gained	HIGH	HG02109.hp2 HG02486.hp2 HG02572.hp2 others(5): Show HG02109.hp2 HG02486.hp2 HG02572.hp2 HG02717.hp2 HG03139.hp2 HG03209.hp1 HG03491.hp2 NA19240.hp1	a0005 a0011 a0005 a0011	a0005c0007 a0005c0012 a0011c0013 a0005c0007 a0005c0012 a0011c0013	a0005c0007t0004 a0005c0007t0012 a0005c0012t0004 others(3): Show a0005c0007t0004 a0005c0007t0012 a0005c0012t0004 a0005c0012t0009 a0011c0013t0008 a0011c0013t0011	a0005c0007t0004g0025 a0005c0007t0004g0028 a0005c0007t0004g0029 others(5): Show a0005c0007t0004g0025 a0005c0007t0004g0028 a0005c0007t0004g0029 a0005c0007t0012g0032 a0005c0012t0004g0026 a0005c0012t0009g0027 a0011c0013t0008g0030 a0011c0013t0011g0033	8	176	0.0455	0	c.216 others(3): Show c.216C>A	p.Cys others(3): Show p.Cys72*	FAM86B1	ENSG00000186523.15	transcript	ENST00000448228.7	protein_coding	3/7	228/2403	216/891	72/296			chr8	TogoVar
FAM86B1_chr8_12177106_12199082	12193979	C C	T T	stop_gained stop_gained	HIGH	HG02109.hp2 HG02486.hp2 HG02572.hp2 others(3): Show HG02109.hp2 HG02486.hp2 HG02572.hp2 HG02717.hp2 HG03139.hp2 HG03491.hp2	a0005 a0005	a0005c0007 a0005c0012 a0005c0007 a0005c0012	a0005c0007t0004 a0005c0007t0012 a0005c0012t0004 others(1): Show a0005c0007t0004 a0005c0007t0012 a0005c0012t0004 a0005c0012t0009	a0005c0007t0004g0025 a0005c0007t0004g0028 a0005c0007t0004g0029 others(3): Show a0005c0007t0004g0025 a0005c0007t0004g0028 a0005c0007t0004g0029 a0005c0007t0012g0032 a0005c0012t0004g0026 a0005c0012t0009g0027	6	176	0.0341	0	c.92G others(2): Show c.92G>A	p.Trp others(3): Show p.Trp31*	FAM86B1	ENSG00000186523.15	transcript	ENST00000448228.7	protein_coding	1/7	104/2403	92/891	31/296			chr8	TogoVar
FANCM_chr14_45130930_45205890	45185207	TCTTA TCTTA	T T	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00280.hp1 HG00323.hp1 HG00558.hp1 others(111): Show HG00280.hp1 HG00323.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp1 HG01358.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG01993.hp1 HG02055.hp1 HG02056.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03831.hp2 HG03927.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18946.hp2 NA18952.hp2 NA18954.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18974.hp2 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18991.hp1 NA18998.hp1 NA18999.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19078.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0002 a0003 a0004 others(16): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0022 a0027	a0002c0003 a0002c0006 a0002c0007 others(22): Show a0002c0003 a0002c0006 a0002c0007 a0002c0008 a0002c0031 a0002c0032 a0003c0002 a0004c0005 a0005c0004 a0006c0010 a0007c0009 a0008c0011 a0008c0025 a0009c0016 a0010c0015 a0011c0014 a0012c0012 a0014c0034 a0015c0030 a0016c0029 a0017c0033 a0018c0024 a0019c0026 a0022c0019 a0027c0027	a0002c0003t0001 a0002c0003t0002 a0002c0006t0002 others(24): Show a0002c0003t0001 a0002c0003t0002 a0002c0006t0002 a0002c0007t0003 a0002c0008t0004 a0002c0008t0007 a0002c0031t0006 a0002c0032t0001 a0003c0002t0001 a0004c0005t0001 a0005c0004t0001 a0006c0010t0001 a0007c0009t0001 a0008c0011t0002 a0008c0025t0002 a0009c0016t0005 a0010c0015t0001 a0011c0014t0001 a0012c0012t0002 a0014c0034t0002 a0015c0030t0001 a0016c0029t0001 a0017c0033t0001 a0018c0024t0001 a0019c0026t0008 a0022c0019t0001 a0027c0027t0001	a0002c0003t0001g0167 a0002c0003t0001g0169 a0002c0003t0001g0170 others(107): Show a0002c0003t0001g0167 a0002c0003t0001g0169 a0002c0003t0001g0170 a0002c0003t0001g0172 a0002c0003t0002g0142 a0002c0003t0002g0153 a0002c0003t0002g0155 a0002c0003t0002g0156 a0002c0003t0002g0162 a0002c0003t0002g0165 a0002c0003t0002g0221 a0002c0003t0002g0223 a0002c0003t0002g0224 a0002c0003t0002g0225 a0002c0006t0002g0212 a0002c0006t0002g0213 a0002c0006t0002g0214 a0002c0006t0002g0215 a0002c0006t0002g0216 a0002c0006t0002g0217 a0002c0006t0002g0218 a0002c0006t0002g0219 a0002c0006t0002g0220 a0002c0007t0003g0146 a0002c0007t0003g0147 a0002c0007t0003g0148 a0002c0007t0003g0149 a0002c0007t0003g0166 a0002c0007t0003g0171 a0002c0008t0004g0143 a0002c0008t0004g0150 a0002c0008t0004g0151 a0002c0008t0004g0152 a0002c0008t0004g0173 a0002c0008t0007g0163 a0002c0031t0006g0160 a0002c0032t0001g0209 a0003c0002t0001g0002 a0003c0002t0001g0174 a0003c0002t0001g0175 a0003c0002t0001g0176 a0003c0002t0001g0177 a0003c0002t0001g0178 a0003c0002t0001g0180 a0003c0002t0001g0181 a0003c0002t0001g0182 a0003c0002t0001g0183 a0003c0002t0001g0184 a0003c0002t0001g0185 a0003c0002t0001g0186 a0003c0002t0001g0187 a0003c0002t0001g0188 a0003c0002t0001g0189 a0003c0002t0001g0191 a0003c0002t0001g0192 a0003c0002t0001g0193 a0003c0002t0001g0194 a0003c0002t0001g0195 a0003c0002t0001g0196 a0003c0002t0001g0199 a0003c0002t0001g0200 a0003c0002t0001g0201 a0003c0002t0001g0202 a0003c0002t0001g0206 a0004c0005t0001g0154 a0004c0005t0001g0157 a0004c0005t0001g0158 a0004c0005t0001g0159 a0004c0005t0001g0161 a0004c0005t0001g0164 a0004c0005t0001g0210 a0004c0005t0001g0211 a0005c0004t0001g0010 a0005c0004t0001g0017 a0005c0004t0001g0023 a0005c0004t0001g0024 a0005c0004t0001g0099 a0005c0004t0001g0108 a0005c0004t0001g0110 a0005c0004t0001g0111 a0005c0004t0001g0112 a0006c0010t0001g0137 a0006c0010t0001g0138 a0006c0010t0001g0203 a0006c0010t0001g0204 a0006c0010t0001g0205 a0007c0009t0001g0012 a0007c0009t0001g0013 a0007c0009t0001g0014 a0007c0009t0001g0015 a0007c0009t0001g0016 a0008c0011t0002g0051 a0008c0011t0002g0052 a0008c0011t0002g0053 a0008c0025t0002g0136 a0009c0016t0005g0207 a0009c0016t0005g0208 a0010c0015t0001g0197 a0010c0015t0001g0198 a0011c0014t0001g0140 a0011c0014t0001g0141 a0012c0012t0002g0006 a0014c0034t0002g0139 a0015c0030t0001g0168 a0016c0029t0001g0226 a0017c0033t0001g0190 a0018c0024t0001g0144 a0019c0026t0008g0145 a0022c0019t0001g0019 a0027c0027t0001g0109	114	238	0.4790	-4	c.451 others(17): Show c.4516-5_4516-2delCTTA		FANCM	ENSG00000187790.12	transcript	ENST00000267430.10	protein_coding	17/22					INFO_REALIGN_3_PRIME	chr14	TogoVar
FBP2_chr9_94553720_94598824	94558939	T T	C C	stop_lost stop_lost	HIGH	HG02622.hp1 HG02809.hp1 HG03139.hp1 others(1): Show HG02622.hp1 HG02809.hp1 HG03139.hp1 NA20129.hp1	a0000 a0000	a0000c0011 a0000c0012 a0000c0011 a0000c0012	a0000c0011t0001 a0000c0012t0001 a0000c0011t0001 a0000c0012t0001	a0000c0011t0001g0043 a0000c0011t0001g0044 a0000c0012t0001g0163 others(1): Show a0000c0011t0001g0043 a0000c0011t0001g0044 a0000c0012t0001g0163 a0000c0012t0001g0164	4	380	0.0105	0	c.101 others(4): Show c.1019A>G	p.Ter others(11): Show p.Ter340Trpext*?	FBP2	ENSG00000130957.5	transcript	ENST00000375337.4	protein_coding	7/7	1117/1336	1019/1020	340/339			chr9	TogoVar
FIG4_chr6_109686296_109830426	109732621	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(276): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0002c0002 others(13): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0009 a0002c0012 a0002c0014 a0002c0015 a0003c0005 a0003c0007 a0003c0017 a0003c0018 a0004c0006 a0004c0008 a0005c0019 a0006c0013	a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 others(20): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0004t0001 a0002c0004t0004 a0002c0009t0002 a0002c0012t0001 a0002c0014t0002 a0002c0015t0001 a0003c0005t0001 a0003c0007t0001 a0003c0007t0002 a0003c0017t0001 a0003c0018t0001 a0004c0006t0001 a0004c0008t0002 a0005c0019t0006 a0006c0013t0002	a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0122 others(274): Show a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0198 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0255 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0279 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0299 a0001c0001t0002g0304 a0001c0001t0002g0351 a0001c0001t0002g0353 a0001c0001t0003g0001 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0187 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0364 a0001c0001t0003g0365 a0001c0001t0003g0366 a0001c0003t0001g0003 a0001c0003t0001g0004 a0001c0003t0001g0014 a0001c0003t0001g0097 a0001c0003t0001g0145 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0188 a0001c0003t0001g0243 a0001c0003t0001g0251 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0254 a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0003t0001g0259 a0001c0003t0001g0260 a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0001g0263 a0001c0003t0001g0264 a0001c0003t0001g0265 a0001c0003t0001g0266 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0271 a0001c0003t0001g0272 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0277 a0001c0003t0001g0278 a0001c0003t0001g0280 a0001c0003t0001g0281 a0001c0003t0001g0282 a0001c0003t0001g0283 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0291 a0001c0003t0001g0292 a0001c0003t0001g0293 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0300 a0001c0003t0001g0301 a0001c0003t0001g0302 a0001c0003t0001g0303 a0001c0003t0001g0319 a0001c0003t0001g0368 a0002c0002t0001g0130 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0218 a0002c0002t0001g0358 a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0139 a0002c0002t0002g0150 a0002c0002t0002g0164 a0002c0002t0002g0211 a0002c0002t0002g0225 a0002c0002t0002g0298 a0002c0002t0002g0362 a0002c0002t0002g0363 a0002c0002t0003g0209 a0002c0002t0004g0006 a0002c0002t0004g0123 a0002c0002t0004g0186 a0002c0002t0004g0196 a0002c0002t0004g0197 a0002c0002t0004g0200 a0002c0002t0004g0201 a0002c0002t0004g0202 a0002c0002t0004g0203 a0002c0002t0004g0204 a0002c0002t0004g0207 a0002c0002t0004g0208 a0002c0002t0004g0228 a0002c0002t0004g0229 a0002c0002t0004g0238 a0002c0002t0004g0294 a0002c0002t0004g0305 a0002c0002t0004g0352 a0002c0002t0004g0354 a0002c0002t0004g0355 a0002c0002t0004g0356 a0002c0002t0004g0357 a0002c0002t0004g0359 a0002c0002t0004g0360 a0002c0002t0005g0125 a0002c0002t0005g0126 a0002c0002t0005g0127 a0002c0004t0001g0128 a0002c0004t0001g0129 a0002c0004t0001g0131 a0002c0004t0001g0140 a0002c0004t0001g0160 a0002c0004t0001g0174 a0002c0004t0001g0178 a0002c0004t0001g0189 a0002c0004t0001g0199 a0002c0004t0001g0205 a0002c0004t0001g0212 a0002c0004t0001g0215 a0002c0004t0001g0216 a0002c0004t0001g0219 a0002c0004t0001g0220 a0002c0004t0001g0231 a0002c0004t0001g0232 a0002c0004t0001g0242 a0002c0004t0001g0248 a0002c0004t0001g0256 a0002c0004t0001g0295 a0002c0004t0004g0230 a0002c0009t0002g0157 a0002c0009t0002g0158 a0002c0009t0002g0159 a0002c0012t0001g0137 a0002c0014t0002g0011 a0002c0015t0001g0181 a0003c0005t0001g0002 a0003c0005t0001g0068 a0003c0005t0001g0249 a0003c0005t0001g0250 a0003c0005t0001g0311 a0003c0005t0001g0312 a0003c0005t0001g0316 a0003c0005t0001g0317 a0003c0005t0001g0320 a0003c0005t0001g0325 a0003c0005t0001g0326 a0003c0005t0001g0327 a0003c0005t0001g0329 a0003c0005t0001g0330 a0003c0005t0001g0331 a0003c0005t0001g0332 a0003c0005t0001g0333 a0003c0005t0001g0334 a0003c0005t0001g0335 a0003c0005t0001g0336 a0003c0005t0001g0337 a0003c0005t0001g0338 a0003c0005t0001g0340 a0003c0005t0001g0341 a0003c0005t0001g0342 a0003c0005t0001g0343 a0003c0005t0001g0345 a0003c0005t0001g0346 a0003c0005t0001g0349 a0003c0005t0001g0350 a0003c0007t0001g0313 a0003c0007t0001g0321 a0003c0007t0001g0328 a0003c0007t0001g0347 a0003c0007t0002g0348 a0003c0017t0001g0314 a0003c0018t0001g0318 a0004c0006t0001g0306 a0004c0006t0001g0307 a0004c0006t0001g0308 a0004c0006t0001g0324 a0004c0006t0001g0339 a0004c0006t0001g0344 a0004c0008t0002g0309 a0004c0008t0002g0310 a0004c0008t0002g0315 a0004c0008t0002g0322 a0004c0008t0002g0323 a0005c0019t0006g0016 a0006c0013t0002g0222	279	370	0.7541	1	c.447 others(6): Show c.447-3dupT		FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr6	TogoVar
FLT4_chr5_180596506_180654600	180614180	CTGGGGAG others(27): Show CTGGGGAGACAGAGGGAAGCTTGTCCCGTGGTGGA	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01167.hp1 HG02109.hp1 HG02809.hp2 others(3): Show HG01167.hp1 HG02109.hp1 HG02809.hp2 HG03139.hp2 HG03453.hp2 HG03471.hp1	a0006 a0021 a0024 a0006 a0021 a0024	a0006c0014 a0006c0033 a0021c0034 others(1): Show a0006c0014 a0006c0033 a0021c0034 a0024c0046	a0006c0014t0002 a0006c0014t0009 a0006c0033t0009 others(2): Show a0006c0014t0002 a0006c0014t0009 a0006c0033t0009 a0021c0034t0009 a0024c0046t0009	a0006c0014t0002g0374 a0006c0014t0009g0301 a0006c0014t0009g0302 others(3): Show a0006c0014t0002g0374 a0006c0014t0009g0301 a0006c0014t0009g0302 a0006c0033t0009g0376 a0021c0034t0009g0287 a0024c0046t0009g0327	6	388	0.0155	-34	c.322 others(48): Show c.3220-35_3220-2delTCCACCACGGGACAAGCTTCCCTCTGTCTCC CCA		FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29						chr5	TogoVar
FLYWCH1_chr16_2906931_2956208	2930715	C C	T T	stop_gained stop_gained	HIGH	HG03139.hp2 HG03139.hp2	a0012 a0012	a0012c0047 a0012c0047	a0012c0047t0095 a0012c0047t0095	a0012c0047t0095g0276 a0012c0047t0095g0276	1	416	0.0024	0	c.631 others(3): Show c.631C>T	p.Arg others(4): Show p.Arg211*	FLYWCH1	ENSG00000059122.17	transcript	ENST00000253928.14	protein_coding	4/10	1042/5043	631/2151	211/716			chr16	TogoVar
FMO2_chr1_171180300_171217686	171196663	TG TG	T T	frameshift_variant frameshift_variant	HIGH	HG01123.hp1 HG01192.hp1 HG01243.hp1 others(21): Show HG01123.hp1 HG01192.hp1 HG01243.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG02109.hp1 HG02135.hp1 HG02280.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02818.hp2 HG02965.hp2 HG03139.hp1 HG03225.hp2 HG03486.hp1 HG03579.hp2 NA20129.hp2 NA20300.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0006 a0006c0006t0011 a0006c0006t0016 a0006c0006t0006 a0006c0006t0011 a0006c0006t0016	a0006c0006t0006g0007 a0006c0006t0006g0036 a0006c0006t0006g0112 others(13): Show a0006c0006t0006g0007 a0006c0006t0006g0036 a0006c0006t0006g0112 a0006c0006t0006g0113 a0006c0006t0006g0114 a0006c0006t0006g0115 a0006c0006t0006g0116 a0006c0006t0006g0117 a0006c0006t0006g0118 a0006c0006t0006g0120 a0006c0006t0006g0121 a0006c0006t0006g0122 a0006c0006t0006g0123 a0006c0006t0011g0007 a0006c0006t0011g0119 a0006c0006t0016g0023	24	366	0.0656	-1	c.337 others(4): Show c.337delG	p.Val others(5): Show p.Val113fs	FMO2	ENSG00000094963.14	transcript	ENST00000209929.10	protein_coding	4/9	403/5215	337/1608	113/535			chr1	TogoVar
FMO2_chr1_171180300_171217686	171208951	C C	T T	stop_gained stop_gained	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(346): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0012 a0014 a0015	a0001c0001 a0001c0015 a0002c0002 others(14): Show a0001c0001 a0001c0015 a0002c0002 a0002c0019 a0003c0003 a0003c0016 a0004c0005 a0004c0008 a0004c0009 a0005c0004 a0006c0006 a0009c0011 a0010c0012 a0011c0014 a0012c0013 a0014c0021 a0015c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0015t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0025 a0002c0019t0004 a0003c0003t0001 a0003c0003t0002 a0003c0003t0014 a0003c0016t0002 a0004c0005t0003 a0004c0008t0002 a0004c0008t0023 a0004c0009t0004 a0005c0004t0003 a0005c0004t0008 a0006c0006t0006 a0006c0006t0011 a0006c0006t0016 a0009c0011t0002 a0010c0012t0002 a0011c0014t0006 a0012c0013t0001 a0014c0021t0002 a0015c0020t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(195): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0139 a0001c0001t0002g0090 a0001c0001t0007g0003 a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0007g0019 a0001c0001t0007g0057 a0001c0001t0007g0070 a0001c0001t0010g0006 a0001c0001t0010g0030 a0001c0001t0013g0010 a0001c0001t0013g0050 a0001c0001t0013g0065 a0001c0001t0018g0083 a0001c0001t0019g0087 a0001c0001t0020g0089 a0001c0001t0022g0067 a0001c0015t0003g0051 a0001c0015t0003g0072 a0001c0015t0003g0084 a0002c0002t0004g0004 a0002c0002t0004g0008 a0002c0002t0004g0009 a0002c0002t0004g0011 a0002c0002t0004g0012 a0002c0002t0004g0024 a0002c0002t0004g0028 a0002c0002t0004g0038 a0002c0002t0004g0039 a0002c0002t0004g0041 a0002c0002t0004g0042 a0002c0002t0004g0128 a0002c0002t0004g0129 a0002c0002t0004g0130 a0002c0002t0004g0131 a0002c0002t0004g0133 a0002c0002t0004g0134 a0002c0002t0004g0138 a0002c0002t0004g0142 a0002c0002t0004g0143 a0002c0002t0004g0144 a0002c0002t0004g0146 a0002c0002t0004g0149 a0002c0002t0004g0151 a0002c0002t0004g0152 a0002c0002t0004g0173 a0002c0002t0005g0004 a0002c0002t0005g0008 a0002c0002t0005g0009 a0002c0002t0005g0012 a0002c0002t0005g0124 a0002c0002t0005g0125 a0002c0002t0005g0136 a0002c0002t0005g0137 a0002c0002t0005g0140 a0002c0002t0005g0150 a0002c0002t0025g0024 a0002c0019t0004g0004 a0003c0003t0001g0180 a0003c0003t0002g0001 a0003c0003t0002g0018 a0003c0003t0002g0029 a0003c0003t0002g0045 a0003c0003t0002g0176 a0003c0003t0002g0177 a0003c0003t0002g0178 a0003c0003t0002g0179 a0003c0003t0002g0181 a0003c0003t0002g0182 a0003c0003t0002g0183 a0003c0003t0002g0185 a0003c0003t0002g0187 a0003c0003t0002g0188 a0003c0003t0002g0189 a0003c0003t0002g0190 a0003c0003t0002g0191 a0003c0003t0002g0192 a0003c0003t0002g0193 a0003c0003t0002g0194 a0003c0003t0002g0195 a0003c0003t0002g0196 a0003c0003t0014g0001 a0003c0003t0014g0045 a0003c0016t0002g0029 a0003c0016t0002g0184 a0004c0005t0003g0005 a0004c0005t0003g0025 a0004c0005t0003g0037 a0004c0005t0003g0040 a0004c0005t0003g0126 a0004c0005t0003g0127 a0004c0005t0003g0132 a0004c0005t0003g0135 a0004c0005t0003g0141 a0004c0005t0003g0145 a0004c0005t0003g0148 a0004c0008t0002g0035 a0004c0008t0002g0107 a0004c0008t0002g0109 a0004c0008t0002g0111 a0004c0008t0002g0147 a0004c0008t0002g0165 a0004c0008t0023g0046 a0004c0009t0004g0016 a0004c0009t0004g0108 a0004c0009t0004g0110 a0004c0009t0004g0174 a0004c0009t0004g0175 a0005c0004t0003g0013 a0005c0004t0003g0017 a0005c0004t0003g0043 a0005c0004t0003g0044 a0005c0004t0003g0153 a0005c0004t0003g0154 a0005c0004t0003g0155 a0005c0004t0003g0156 a0005c0004t0003g0159 a0005c0004t0003g0160 a0005c0004t0003g0161 a0005c0004t0003g0162 a0005c0004t0003g0163 a0005c0004t0003g0164 a0005c0004t0003g0166 a0005c0004t0003g0167 a0005c0004t0003g0169 a0005c0004t0003g0170 a0005c0004t0008g0026 a0005c0004t0008g0027 a0005c0004t0008g0157 a0005c0004t0008g0158 a0005c0004t0008g0168 a0006c0006t0006g0007 a0006c0006t0006g0036 a0006c0006t0006g0112 a0006c0006t0006g0113 a0006c0006t0006g0114 a0006c0006t0006g0115 a0006c0006t0006g0116 a0006c0006t0006g0117 a0006c0006t0006g0118 a0006c0006t0006g0120 a0006c0006t0006g0121 a0006c0006t0006g0122 a0006c0006t0006g0123 a0006c0006t0011g0007 a0006c0006t0011g0119 a0006c0006t0016g0023 a0009c0011t0002g0021 a0009c0011t0002g0106 a0010c0012t0002g0022 a0011c0014t0006g0091 a0011c0014t0006g0095 a0011c0014t0006g0096 a0012c0013t0001g0032 a0012c0013t0001g0064 a0014c0021t0002g0001 a0015c0020t0001g0186	349	366	0.9536	0	c.141 others(4): Show c.1414C>T	p.Gln others(4): Show p.Gln472*	FMO2	ENSG00000094963.14	transcript	ENST00000209929.10	protein_coding	9/9	1480/5215	1414/1608	472/535			chr1	TogoVar
FMO2_chr1_171180300_171217686	171209118	C C	CT CT	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00544.hp2 HG00741.hp2 others(78): Show HG00140.hp2 HG00544.hp2 HG00741.hp2 HG01192.hp2 HG01256.hp2 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03704.hp1 HG03710.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18956.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp1 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19054.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19075.hp2 NA19088.hp1 NA19090.hp2 NA20905.hp2 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0019 a0004c0009 a0002c0002 a0002c0019 a0004c0009	a0002c0002t0004 a0002c0002t0005 a0002c0002t0025 others(2): Show a0002c0002t0004 a0002c0002t0005 a0002c0002t0025 a0002c0019t0004 a0004c0009t0004	a0002c0002t0004g0004 a0002c0002t0004g0008 a0002c0002t0004g0009 others(40): Show a0002c0002t0004g0004 a0002c0002t0004g0008 a0002c0002t0004g0009 a0002c0002t0004g0011 a0002c0002t0004g0012 a0002c0002t0004g0024 a0002c0002t0004g0028 a0002c0002t0004g0038 a0002c0002t0004g0039 a0002c0002t0004g0041 a0002c0002t0004g0042 a0002c0002t0004g0128 a0002c0002t0004g0129 a0002c0002t0004g0130 a0002c0002t0004g0131 a0002c0002t0004g0133 a0002c0002t0004g0134 a0002c0002t0004g0138 a0002c0002t0004g0142 a0002c0002t0004g0143 a0002c0002t0004g0144 a0002c0002t0004g0146 a0002c0002t0004g0149 a0002c0002t0004g0151 a0002c0002t0004g0152 a0002c0002t0004g0173 a0002c0002t0005g0004 a0002c0002t0005g0008 a0002c0002t0005g0009 a0002c0002t0005g0012 a0002c0002t0005g0124 a0002c0002t0005g0125 a0002c0002t0005g0136 a0002c0002t0005g0137 a0002c0002t0005g0140 a0002c0002t0005g0150 a0002c0002t0025g0024 a0002c0019t0004g0004 a0004c0009t0004g0016 a0004c0009t0004g0108 a0004c0009t0004g0110 a0004c0009t0004g0174 a0004c0009t0004g0175	81	366	0.2213	1	c.158 others(5): Show c.1588dupT	p.Cys others(5): Show p.Cys530fs	FMO2	ENSG00000094963.14	transcript	ENST00000209929.10	protein_coding	9/9	1655/5215	1589/1608	530/535		INFO_REALIGN_3_PRIME	chr1	TogoVar
FOLR3_chr11_72130725_72144892	72139110	CTA CTA	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(333): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.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 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0012 a0001c0018 a0001c0019 a0003c0004 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 a0001c0012t0001 a0001c0018t0001 a0001c0019t0001 a0003c0004t0001 a0005c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0002g0001 a0001c0003t0001g0001 a0001c0003t0001g0009 a0001c0003t0001g0018 a0001c0003t0001g0022 a0001c0005t0001g0004 a0001c0010t0001g0002 a0001c0012t0001g0002 a0001c0018t0001g0001 a0001c0019t0001g0001 a0003c0004t0001g0001 a0005c0014t0001g0001	336	384	0.8750	-2	c.320 others(9): Show c.320_321delAT	p.Tyr others(5): Show p.Tyr107fs	FOLR3	ENSG00000110203.10	transcript	ENST00000611028.3	protein_coding	3/5	370/849	320/738	107/245		INFO_REALIGN_3_PRIME	chr11	TogoVar
FOXD4L3_chr9_68297867_68310084	68303273	A A	T T	stop_gained stop_gained	HIGH	HG00423.hp1 HG00544.hp2 HG00621.hp1 others(81): Show HG00423.hp1 HG00544.hp2 HG00621.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01361.hp1 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02040.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03704.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18952.hp2 NA18957.hp1 NA18961.hp1 NA18962.hp2 NA18968.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18987.hp1 NA18991.hp2 NA18994.hp1 NA19001.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19057.hp2 NA19065.hp1 NA19074.hp2 NA19077.hp1 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0003 a0001c0014 others(2): Show a0001c0002 a0001c0003 a0001c0014 a0001c0015 a0007c0011	a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0014t0001 a0001c0015t0001 a0007c0011t0001	a0001c0002t0001g0000 a0001c0002t0003g0000 a0001c0003t0001g0000 others(3): Show a0001c0002t0001g0000 a0001c0002t0003g0000 a0001c0003t0001g0000 a0001c0014t0001g0000 a0001c0015t0001g0000 a0007c0011t0001g0000	84	175	0.4800	0	c.322 others(3): Show c.322A>T	p.Lys others(4): Show p.Lys108*	FOXD4L3	ENSG00000187559.6	transcript	ENST00000342833.4	protein_coding	1/1	407/2218	322/1254	108/417			chr9	TogoVar
FOXD4L5_chr9_65277101_65290209	65283162	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00323.hp1 HG00323.hp2 HG00597.hp1 others(52): Show HG00323.hp1 HG00323.hp2 HG00597.hp1 HG00597.hp2 HG00741.hp1 HG01175.hp1 HG02015.hp2 HG02027.hp1 HG02145.hp1 HG02145.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02895.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp2 NA18946.hp1 NA18946.hp2 NA18966.hp2 NA18977.hp2 NA18994.hp1 NA18994.hp2 NA19001.hp1 NA19001.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19085.hp1 NA19085.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0000 a0000	a0000c0001 a0000c0007 a0000c0008 others(6): Show a0000c0001 a0000c0007 a0000c0008 a0000c0010 a0000c0011 a0000c0012 a0000c0013 a0000c0014 a0000c0015	a0000c0001t0001 a0000c0001t0004 a0000c0001t0005 others(12): Show a0000c0001t0001 a0000c0001t0004 a0000c0001t0005 a0000c0001t0007 a0000c0001t0008 a0000c0001t0015 a0000c0001t0016 a0000c0007t0009 a0000c0008t0001 a0000c0010t0001 a0000c0011t0001 a0000c0012t0001 a0000c0013t0001 a0000c0014t0001 a0000c0015t0001	a0000c0001t0001g0000 a0000c0001t0004g0000 a0000c0001t0005g0000 others(12): Show a0000c0001t0001g0000 a0000c0001t0004g0000 a0000c0001t0005g0000 a0000c0001t0007g0000 a0000c0001t0008g0000 a0000c0001t0015g0000 a0000c0001t0016g0000 a0000c0007t0009g0000 a0000c0008t0001g0000 a0000c0010t0001g0000 a0000c0011t0001g0000 a0000c0012t0001g0000 a0000c0013t0001g0000 a0000c0014t0001g0000 a0000c0015t0001g0000	55	81	0.6790	-1	c.121 others(5): Show c.1215delC	p.Trp others(5): Show p.Trp406fs	FOXD4L5	ENSG00000204779.2	transcript	ENST00000377420.1	protein_coding	1/1	2047/3109	1215/1251	405/416			chr9	TogoVar
FUT2_chr19_48690971_48710951	48703417	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(88): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp2 HG06807.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0022 a0002c0002 a0002c0008 a0002c0022	a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 others(13): Show a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 a0002c0002t0011 a0002c0002t0012 a0002c0002t0014 a0002c0002t0015 a0002c0002t0020 a0002c0002t0021 a0002c0002t0022 a0002c0002t0033 a0002c0002t0034 a0002c0002t0035 a0002c0002t0036 a0002c0008t0010 a0002c0022t0003	a0002c0002t0003g0004 a0002c0002t0003g0008 a0002c0002t0003g0017 others(51): Show a0002c0002t0003g0004 a0002c0002t0003g0008 a0002c0002t0003g0017 a0002c0002t0003g0021 a0002c0002t0003g0022 a0002c0002t0003g0030 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0110 a0002c0002t0003g0125 a0002c0002t0003g0126 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0139 a0002c0002t0005g0004 a0002c0002t0005g0008 a0002c0002t0005g0017 a0002c0002t0005g0022 a0002c0002t0005g0046 a0002c0002t0005g0072 a0002c0002t0005g0101 a0002c0002t0005g0111 a0002c0002t0008g0013 a0002c0002t0008g0019 a0002c0002t0008g0033 a0002c0002t0008g0054 a0002c0002t0011g0013 a0002c0002t0011g0041 a0002c0002t0011g0080 a0002c0002t0011g0086 a0002c0002t0012g0019 a0002c0002t0012g0038 a0002c0002t0012g0059 a0002c0002t0014g0038 a0002c0002t0014g0041 a0002c0002t0014g0102 a0002c0002t0015g0013 a0002c0002t0015g0019 a0002c0002t0015g0033 a0002c0002t0020g0008 a0002c0002t0020g0021 a0002c0002t0021g0004 a0002c0002t0021g0021 a0002c0002t0022g0055 a0002c0002t0022g0056 a0002c0002t0033g0127 a0002c0002t0034g0124 a0002c0002t0035g0058 a0002c0002t0036g0057 a0002c0008t0010g0014 a0002c0022t0003g0099	91	394	0.2310	0	c.461 others(3): Show c.461G>A	p.Trp others(4): Show p.Trp154*	FUT2	ENSG00000176920.14	transcript	ENST00000425340.3	protein_coding	2/2	582/3116	461/1032	154/343			chr19	TogoVar
GAB4_chr22_16956936_17013222	16988159	C C	A A	stop_gained stop_gained	HIGH	HG00280.hp1 HG00544.hp2 HG00558.hp2 others(145): Show HG00280.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG03098.hp1 HG03139.hp1 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19076.hp2 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA19090.hp1 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0008 a0002c0013 others(5): Show a0002c0002 a0002c0008 a0002c0013 a0002c0014 a0002c0017 a0002c0021 a0002c0022 a0005c0011	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(9): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0008t0001 a0002c0013t0005 a0002c0014t0001 a0002c0014t0003 a0002c0017t0001 a0002c0021t0001 a0002c0022t0001 a0005c0011t0001	a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0007 others(74): Show a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0157 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0177 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0209 a0002c0002t0002g0170 a0002c0002t0002g0175 a0002c0002t0004g0155 a0002c0002t0004g0156 a0002c0002t0004g0158 a0002c0002t0004g0183 a0002c0002t0004g0201 a0002c0002t0007g0040 a0002c0002t0007g0065 a0002c0002t0007g0167 a0002c0008t0001g0045 a0002c0008t0001g0084 a0002c0008t0001g0085 a0002c0013t0005g0067 a0002c0014t0001g0159 a0002c0014t0003g0166 a0002c0017t0001g0076 a0002c0021t0001g0176 a0002c0022t0001g0178 a0005c0011t0001g0077 a0005c0011t0001g0078	148	430	0.3442	0	c.487 others(3): Show c.487G>T	p.Gly others(4): Show p.Gly163*	GAB4	ENSG00000215568.9	transcript	ENST00000400588.5	protein_coding	3/10	595/2630	487/1725	163/574			chr22	TogoVar
GJB7_chr6_87277980_87334278	87323031	TGCTTTTT others(80): Show TGCTTTTTCAGCCCTGCAACACAATGTGTAGAACTTAACGGAATGAAGTT TTCTTTTGGAGGCTTCCAATGCGTCTGTCTTTGAGTAA	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG01891.hp2 HG02055.hp1 HG02572.hp1 others(13): Show HG01891.hp2 HG02055.hp1 HG02572.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp2 HG03579.hp2 NA18522.hp1 NA21309.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0008	a0001c0001 a0003c0003 a0005c0005 others(1): Show a0001c0001 a0003c0003 a0005c0005 a0008c0010	a0001c0001t0006 a0001c0001t0013 a0003c0003t0008 others(2): Show a0001c0001t0006 a0001c0001t0013 a0003c0003t0008 a0005c0005t0007 a0008c0010t0008	a0001c0001t0006g0004 a0001c0001t0006g0053 a0001c0001t0006g0055 others(5): Show a0001c0001t0006g0004 a0001c0001t0006g0053 a0001c0001t0006g0055 a0001c0001t0013g0054 a0003c0003t0008g0029 a0005c0005t0007g0028 a0005c0005t0007g0052 a0008c0010t0008g0051	16	382	0.0419	-87	c.-20 others(99): Show c.-205-75_-194delTTACTCAAAGACAGACGCATTGGAAGCCTCCAA AAGAAAACTTCATTCCGTTAAGTTCTACACATTGTGTTGCAGGGCTGAAA AAGC		GJB7	ENSG00000164411.12	transcript	ENST00000525899.6	protein_coding	2/3				38120		chr6	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(409): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCC CCCACATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACATC TTCTCCTCCTGCCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCCTC CTGGCCCCGCATCTTCTCCTCCTGGTCCCGCATCTTCTCCTCCTGCTCCC ATATCTTCTCCTGCTCCTGCATCTTCTCGTGTTCCCACAGCTTCTCCTTC TGTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG01243.hp1 HG01884.hp1 others(16): Show HG00621.hp1 HG01243.hp1 HG01884.hp1 HG02135.hp1 HG02257.hp1 HG02280.hp2 HG02523.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03130.hp1 HG03139.hp2 HG03453.hp2 HG03486.hp1 NA18906.hp1 NA18951.hp1	a0001 a0017 a0018 a0001 a0017 a0018	a0001c0003 a0001c0017 a0017c0043 others(1): Show a0001c0003 a0001c0017 a0017c0043 a0018c0050	a0001c0003t0001 a0001c0017t0001 a0017c0043t0001 others(1): Show a0001c0003t0001 a0001c0017t0001 a0017c0043t0001 a0018c0050t0001	a0001c0003t0001g0006 a0001c0003t0001g0017 a0001c0003t0001g0133 others(4): Show a0001c0003t0001g0006 a0001c0003t0001g0017 a0001c0003t0001g0133 a0001c0017t0001g0033 a0001c0017t0001g0096 a0017c0043t0001g0132 a0018c0050t0001g0066	19	396	0.0480	416	c.239 others(425): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGCCAGGAGGAGAAGATGTGGGGGCAGGAGGAGAAGATGTG GGGCCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGGGGGCAG GAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGCAGGAGGAGAA GATGCGGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCG GGGGACAGGAGGAGAAGATGCGGGGGCCAG	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440318	T T	TCCCGCAT others(208): Show TCCCGCATCTTCTCCTCCTGCTTCCGCATCTTCTCCTCCTGCTCCCACAT CTGCTTCTCCTGCTCCTGCAGCCTCTCCTCCTGTCTCCACATCTTCCTGC TCCCGCATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCACAT CTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGGTCCCGCATCTTCTCCT GCTCCCATATCTTCTC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 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.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01928.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 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0003 others(22): Show a0000 a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0028 a0030	a0000c0051 a0001c0001 a0001c0003 others(52): Show a0000c0051 a0001c0001 a0001c0003 a0001c0005 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0027 a0001c0029 a0001c0033 a0001c0048 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0003c0007 a0003c0068 a0003c0069 a0004c0006 a0005c0009 a0006c0020 a0006c0031 a0007c0028 a0008c0026 a0010c0030 a0012c0077 a0013c0076 a0014c0074 a0015c0073 a0016c0067 a0017c0043 a0018c0050 a0019c0070 a0020c0049 a0021c0071 a0022c0072 a0023c0047 a0024c0046 a0025c0045 a0028c0035 a0030c0079	a0000c0051t0001 a0001c0001t0001 a0001c0001t0003 others(65): Show a0000c0051t0001 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0003t0001 a0001c0005t0001 a0001c0005t0004 a0001c0013t0001 a0001c0013t0003 a0001c0014t0001 a0001c0015t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0019t0003 a0001c0027t0001 a0001c0029t0001 a0001c0033t0001 a0001c0048t0001 a0001c0052t0001 a0001c0053t0001 a0001c0054t0001 a0001c0055t0001 a0001c0056t0001 a0001c0057t0001 a0001c0058t0001 a0001c0059t0001 a0001c0060t0001 a0001c0061t0001 a0001c0062t0001 a0001c0063t0009 a0001c0064t0001 a0001c0065t0001 a0001c0066t0001 a0003c0007t0001 a0003c0007t0009 a0003c0068t0001 a0003c0069t0001 a0004c0006t0001 a0004c0006t0003 a0004c0006t0004 a0005c0009t0001 a0006c0020t0010 a0006c0031t0010 a0007c0028t0015 a0007c0028t0016 a0008c0026t0005 a0010c0030t0019 a0012c0077t0001 a0013c0076t0001 a0014c0074t0001 a0015c0073t0001 a0016c0067t0001 a0017c0043t0001 a0018c0050t0001 a0019c0070t0001 a0020c0049t0001 a0021c0071t0001 a0022c0072t0001 a0023c0047t0004 a0024c0046t0001 a0025c0045t0004 a0028c0035t0004 a0030c0079t0001	a0000c0051t0001g0067 a0001c0001t0001g0001 a0001c0001t0001g0002 others(92): Show a0000c0051t0001g0067 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0003g0004 a0001c0001t0003g0026 a0001c0001t0004g0023 a0001c0001t0004g0034 a0001c0001t0004g0050 a0001c0001t0004g0064 a0001c0001t0004g0106 a0001c0001t0012g0038 a0001c0001t0018g0074 a0001c0001t0020g0098 a0001c0001t0023g0107 a0001c0003t0001g0006 a0001c0003t0001g0017 a0001c0003t0001g0133 a0001c0005t0001g0008 a0001c0005t0001g0087 a0001c0005t0001g0091 a0001c0005t0001g0112 a0001c0005t0004g0092 a0001c0013t0001g0021 a0001c0013t0003g0095 a0001c0014t0001g0013 a0001c0015t0001g0012 a0001c0017t0001g0033 a0001c0017t0001g0096 a0001c0018t0001g0022 a0001c0019t0001g0055 a0001c0019t0003g0035 a0001c0027t0001g0032 a0001c0029t0001g0048 a0001c0033t0001g0061 a0001c0048t0001g0065 a0001c0052t0001g0069 a0001c0053t0001g0070 a0001c0054t0001g0071 a0001c0055t0001g0072 a0001c0056t0001g0090 a0001c0057t0001g0097 a0001c0058t0001g0073 a0001c0059t0001g0075 a0001c0060t0001g0076 a0001c0061t0001g0077 a0001c0062t0001g0099 a0001c0063t0009g0078 a0001c0064t0001g0100 a0001c0065t0001g0101 a0001c0066t0001g0079 a0003c0007t0001g0007 a0003c0007t0009g0036 a0003c0068t0001g0080 a0003c0069t0001g0081 a0004c0006t0001g0010 a0004c0006t0003g0020 a0004c0006t0004g0068 a0005c0009t0001g0011 a0005c0009t0001g0037 a0006c0020t0010g0045 a0006c0031t0010g0130 a0007c0028t0015g0046 a0007c0028t0016g0047 a0008c0026t0005g0044 a0010c0030t0019g0060 a0012c0077t0001g0111 a0013c0076t0001g0110 a0014c0074t0001g0085 a0015c0073t0001g0104 a0016c0067t0001g0102 a0017c0043t0001g0132 a0018c0050t0001g0066 a0019c0070t0001g0082 a0020c0049t0001g0094 a0021c0071t0001g0103 a0022c0072t0001g0054 a0023c0047t0004g0049 a0024c0046t0001g0093 a0025c0045t0004g0062 a0028c0035t0004g0116 a0030c0079t0001g0137	287	396	0.7248	215	c.215 others(224): Show c.2156_2157insGAGAAGATATGGGAGCAGGAGAAGATGCGGGACCAG GAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTGGGGGCAGGAGGAGAA GATGTGGGGGCAGGAGGAGAAGATGCGGGAGCAGGAAGATGTGGAGACAG GAGGAGAGGCTGCAGGAGCAGGAGAAGCAGATGTGGGAGCAGGAGGAGAA GATGCGGAAGCAGGAGGAGAAGATGCGGG	p.Ser others(5): Show p.Ser720fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2218/3499	2156/2730	719/909			chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440394	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(388): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.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 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.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.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.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 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.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 HG02965.hp1 HG02965.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 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.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 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.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 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.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 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(27): Show a0000 a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0030	a0000c0002 a0000c0004 a0000c0010 others(74): Show a0000c0002 a0000c0004 a0000c0010 a0000c0016 a0000c0022 a0000c0023 a0000c0024 a0000c0025 a0000c0034 a0000c0037 a0000c0038 a0000c0044 a0000c0051 a0000c0075 a0000c0078 a0001c0001 a0001c0003 a0001c0005 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0027 a0001c0029 a0001c0033 a0001c0048 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0062 a0001c0063 a0001c0064 a0001c0065 a0001c0066 a0002c0008 a0002c0011 a0002c0041 a0003c0007 a0003c0068 a0003c0069 a0004c0006 a0005c0009 a0006c0020 a0006c0031 a0006c0032 a0007c0028 a0008c0026 a0009c0021 a0010c0030 a0011c0042 a0012c0077 a0013c0076 a0014c0074 a0015c0073 a0016c0067 a0017c0043 a0018c0050 a0019c0070 a0020c0049 a0021c0071 a0022c0072 a0023c0047 a0024c0046 a0025c0045 a0026c0040 a0027c0039 a0028c0035 a0030c0079	a0000c0002t0002 a0000c0002t0005 a0000c0002t0011 others(95): Show a0000c0002t0002 a0000c0002t0005 a0000c0002t0011 a0000c0002t0017 a0000c0004t0002 a0000c0004t0005 a0000c0010t0002 a0000c0010t0011 a0000c0016t0006 a0000c0022t0006 a0000c0023t0002 a0000c0024t0006 a0000c0025t0002 a0000c0034t0002 a0000c0037t0002 a0000c0038t0002 a0000c0044t0002 a0000c0051t0001 a0000c0075t0005 a0000c0078t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0003t0001 a0001c0005t0001 a0001c0005t0004 a0001c0013t0001 a0001c0013t0003 a0001c0014t0001 a0001c0015t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0019t0003 a0001c0027t0001 a0001c0029t0001 a0001c0033t0001 a0001c0048t0001 a0001c0052t0001 a0001c0053t0001 a0001c0054t0001 a0001c0055t0001 a0001c0056t0001 a0001c0057t0001 a0001c0058t0001 a0001c0059t0001 a0001c0060t0001 a0001c0061t0001 a0001c0062t0001 a0001c0063t0009 a0001c0064t0001 a0001c0065t0001 a0001c0066t0001 a0002c0008t0007 a0002c0008t0013 a0002c0008t0021 a0002c0008t0024 a0002c0011t0008 a0002c0041t0007 a0003c0007t0001 a0003c0007t0009 a0003c0068t0001 a0003c0069t0001 a0004c0006t0001 a0004c0006t0003 a0004c0006t0004 a0005c0009t0001 a0006c0020t0010 a0006c0031t0010 a0006c0032t0010 a0007c0028t0015 a0007c0028t0016 a0008c0026t0005 a0009c0021t0014 a0010c0030t0019 a0011c0042t0009 a0012c0077t0001 a0013c0076t0001 a0014c0074t0001 a0015c0073t0001 a0016c0067t0001 a0017c0043t0001 a0018c0050t0001 a0019c0070t0001 a0020c0049t0001 a0021c0071t0001 a0022c0072t0001 a0023c0047t0004 a0024c0046t0001 a0025c0045t0004 a0026c0040t0022 a0027c0039t0007 a0028c0035t0004 a0030c0079t0001	a0000c0002t0002g0003 a0000c0002t0002g0005 a0000c0002t0002g0040 others(132): Show a0000c0002t0002g0003 a0000c0002t0002g0005 a0000c0002t0002g0040 a0000c0002t0002g0114 a0000c0002t0002g0117 a0000c0002t0002g0118 a0000c0002t0005g0025 a0000c0002t0011g0039 a0000c0002t0017g0115 a0000c0004t0002g0009 a0000c0004t0002g0014 a0000c0004t0002g0028 a0000c0004t0005g0121 a0000c0010t0002g0015 a0000c0010t0011g0131 a0000c0016t0006g0031 a0000c0016t0006g0051 a0000c0022t0006g0042 a0000c0023t0002g0041 a0000c0024t0006g0030 a0000c0025t0002g0029 a0000c0034t0002g0119 a0000c0037t0002g0120 a0000c0038t0002g0122 a0000c0044t0002g0053 a0000c0051t0001g0067 a0000c0075t0005g0108 a0000c0078t0006g0052 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0003g0004 a0001c0001t0003g0026 a0001c0001t0004g0023 a0001c0001t0004g0034 a0001c0001t0004g0050 a0001c0001t0004g0064 a0001c0001t0004g0106 a0001c0001t0012g0038 a0001c0001t0018g0074 a0001c0001t0020g0098 a0001c0001t0023g0107 a0001c0003t0001g0006 a0001c0003t0001g0017 a0001c0003t0001g0133 a0001c0005t0001g0008 a0001c0005t0001g0087 a0001c0005t0001g0091 a0001c0005t0001g0112 a0001c0005t0004g0092 a0001c0013t0001g0021 a0001c0013t0003g0095 a0001c0014t0001g0013 a0001c0015t0001g0012 a0001c0017t0001g0033 a0001c0017t0001g0096 a0001c0018t0001g0022 a0001c0019t0001g0055 a0001c0019t0003g0035 a0001c0027t0001g0032 a0001c0029t0001g0048 a0001c0033t0001g0061 a0001c0048t0001g0065 a0001c0052t0001g0069 a0001c0053t0001g0070 a0001c0054t0001g0071 a0001c0055t0001g0072 a0001c0056t0001g0090 a0001c0057t0001g0097 a0001c0058t0001g0073 a0001c0059t0001g0075 a0001c0060t0001g0076 a0001c0061t0001g0077 a0001c0062t0001g0099 a0001c0063t0009g0078 a0001c0064t0001g0100 a0001c0065t0001g0101 a0001c0066t0001g0079 a0002c0008t0007g0016 a0002c0008t0013g0043 a0002c0008t0021g0127 a0002c0008t0024g0128 a0002c0011t0008g0018 a0002c0011t0008g0138 a0002c0041t0007g0126 a0003c0007t0001g0007 a0003c0007t0009g0036 a0003c0068t0001g0080 a0003c0069t0001g0081 a0004c0006t0001g0010 a0004c0006t0003g0020 a0004c0006t0004g0068 a0005c0009t0001g0011 a0005c0009t0001g0037 a0006c0020t0010g0045 a0006c0031t0010g0130 a0006c0032t0010g0129 a0007c0028t0015g0046 a0007c0028t0016g0047 a0008c0026t0005g0044 a0009c0021t0014g0056 a0009c0021t0014g0057 a0010c0030t0019g0060 a0011c0042t0009g0086 a0012c0077t0001g0111 a0013c0076t0001g0110 a0014c0074t0001g0085 a0015c0073t0001g0104 a0016c0067t0001g0102 a0017c0043t0001g0132 a0018c0050t0001g0066 a0019c0070t0001g0082 a0020c0049t0001g0094 a0021c0071t0001g0103 a0022c0072t0001g0054 a0023c0047t0004g0049 a0024c0046t0001g0093 a0025c0045t0004g0062 a0026c0040t0022g0125 a0027c0039t0007g0124 a0028c0035t0004g0116 a0030c0079t0001g0137	391	396	0.9874	-1	c.208 others(5): Show c.2080delA	p.Arg others(5): Show p.Arg694fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2142/3499	2080/2730	694/909			chr15	TogoVar
GOLGA8G_chr15_28514611_28537971	28521486	AGCTTTCC others(4921): Show AGCTTTCCTTCACTCTAATTCATTCTTGACTAGAGCCTGTATGCCTGTTC CAGGGACATTTGAACTCTTAAAGGATTTCTTATGATCTTTACTAAATACA TTAAGAAGAATGCCAACCAGTGCCCTTTTGTGTACTGGGACATGCAGTCA TGTGATTAAAACAGGTAACATGAACTCTGACTTTAAAATATAGATACAAA TGCTCTAAGCTAGGAAAGGTTTTCCACAACCGTAGTCAATGATGGGAACC TTTCATTCCTCAGAAATAAGCCCTTTTTAGGTCATCAAAAAAGAGTACAA CTGCTGAAGCTCATGATGCAATATCTTCATGAGCCCAGAGCACATACAAA TCCTAAAGGAACTACAATAGTACAGCACTAATTCTTGGCAACAGAACAAA TGAAACACACTCTATCTTGCACATACCTGCCAGAGCAGGCAACTTTCCTC TTCTGTGAAATTTAAAAAGCTCCCCCAAAATGTTATTACTCCCATCACCA ATACACAGAAAATGAGGAAAAGGCTGTTTCCAGTTCTCGGCCTTTAAACA ACTCTAAATGTCAGTACTCTTGGTGGCATATTACAAAGTATTAAATAGTG CACACTTGGGGCAAACCACATATTGTGCTAATGAAGAGCTCACTGTGATT AAGATTAGATCAAACAACAGCAGAACATAGGCACATTTTATCTGAATTCT GTAATGAATATACATGCTGCAATAACATTAAAAACACATGGCAGCCTATT CCAAACCAGCAAGAATAGTTTTGTGCAAATAGTGGGTCTTTGTGTGTTTG AACTCCCACCACGTAAGGGCAAACTCAATATGCATGCTAATGACCTACAA TTATGAAATTGAAAAAGAAAATTGCGAAAGTATGCCAGAGTGAACATCAG TGAAAGCCACAGAGACCCACTCTCTTTTAACTATTTACAAATGAACTTAA ACTATAAATTAGAAACACAAATAATCATAAGTGGCTATAACATTCAAATG AAGTAAATGAATTGTGTAGGAGATTAACCCCATAACTTTGTTTCTTTTTT AAAAATTTCTTCAGCAGCTCTTTGACGATGGTGATGTTTATCTCCTTCTT CTTGGCAGCCAAGCCCAGCAAAAGAATGGCACACAGCAGTTGCTGCCCAA GCCTGGGTGCTCCTGGTGGTCCTGCACGATCGGCTGTGCAGTAGGGTTGT CGTGGGGAGAACCCTCCCTGGCCTCTCCTTGCACAGGCTCCACGCTGTCA GTGAGGCTCACCTCACAAAGATCTTTGGAGAGAGGGAGGCGGGGATCTGA GCTCAGTGAGAGCCCCCCTGCTCCTGCCTGCCCACCCCGCCTGAGGGCTC TACTCACCACCATGCTTGTGGGCAGCCCCAAGCTCCTGGGGGGCTGGGGC TCCTGGACTGGGCTCATGAGCAGGGTTCTGGGCAGTCACCAAGAATTTGC TGTGTCCCTTGTAGTCGCCACCAGCTGCAACACCATCTCCTGCAGCTCCA GCAGCTTCACCTGGAGGGAGGGGTGCTCAGCTGTCACGCTGCTGCCAGCG CTCACCGTCACAGCCACCCCCACCCCCGCAGAGATGTTGCACACTCTACC TTCATCTCCTCCCTGTCCAGGGCCAGCCTGATGGTGTCCTCCTCCCGGTG CTGCATCTTTGGCACTGCCCCCTGGCTTTGTTATAGGGTGATAAACTTTC CTGCGGGAGGACAGGGCTCAGACGCTGGGGCCCCTCCAACAGCCCTGCAG CTCCCCCTGCCATGCCCTGGCCTCCCACTCACTGATGGCATCTCTCTCTG TAGTACTGGAAGAATCCAAGTTCTTCTTTCTCCACCAGCTCACTCAGGTC TGCCTTCTCCTCCAGGTGGTCCATAAAGCCGCTCTGGAGCCAAAATAATG GGGTCACATCTCGCCAGCGACCTGCCCTCAGGTGGCATTTTCAAGTCATG GAGAAGGCGGAGGTGAGTTCCGGCATGGGCCAGCTTCTCCGTGACTTCCT GCAGGGCCCGGTGGGTCTCCCCACTCACAGACTCGCCCCCAGGCCCTGGG GCTCCAGGGCCTCTGGCTGCCTCTGGCTCCTTCTGGGCCGAGGCCACCGG GTGAGCCAGGCGCTGGCAGCACACCCTCTGCTCTTTCACCTGCTCTTGTA ACTGTGCCTGCTTCTCCTGGGCACTAGCTCCAGCGGACTTGAAAAATGCC ACCTGAGGGCAAGATGTGAGCATTCTTGCAGGGGCATACACAGAACAAAT GGGGCAGAGAGGTGGAGCGCAGCCCCTTCCCTTGGGGCCCCAGAGACTGC ACATGTTGGTCACAGGTGAAATGGTGTCTGACCACTGGCTCCCAGAAGGG GTGAGGGTCCAGAGAAATCAGAAGGCAGGGAAACGAAGAGCATAAAGGGG TCTTGGAGGGACCACAGAGGAAGGAGGCAAAATGGGTTCAGGTGGAGTCA GGCTTACCATGGCCTCCCTGCTCTCCAGGTCCTGTGGGATGCTAGGAATG GGCCGAGGTGCCTCCTCCCCCTCACTGTCCAGATGTCCTCCTCCATCTCC TGGGGGTGGGGGTGGTGGCCAGAGGGGTCCTCAGACAACTCAACAAGGGA AGTATTGTGGGCCCACCTCTGCCTCCACCCTCATTGTGTAACCCTGAGCC AGGCCCTCCCCAGAGAGGAATGAGCTGCTGTTATTTATTTTTACTTTGAA GAACCAAGATCTTGCTATACTGCCCAGGCACATTCCCACTACTGGTCGGT GCGGGAGTTCTGACCTGCTCCCTTTCTGACCTCGGCCAGTTCAGCCATCC TTAGGCAACTTGGTGGCCCCCCGCTCACAGGAGGTCACCATATTGATGCT GAACTTAGTGCAGGCACCCGGTTAGTATAATGACCAGCTGTTCTAAAGGT CTCTTCCAACTCCTCAATCCTATGCTGCTAGCAGTCCCCCCTTCCTCCTG GGGCTCTCTCCTCTTCCTCTGAGCGGTCTCCCGTACCTTCCCCAGGGAGA GCCATGAGGCTCAACTGGGCCGTTAGCTGCTGTTTCTGCTGGCTCGCAGC TTCCAGACGCTCCTAAGGGGCCAGGAAAGAGTGAGAAGGCACAGAGTTTG CCAGGTCGTCCCCCTCACAGCCCCATCCTCGGCAGCTCCCTCCCCTGGGT CTCCTGCAACTTTTGGCAGGCCATCTCGGCCACCGCTTTGCCCCAAGCTT CCTGCTGCTGCAACTGGTTCATTAGCTGGGTCTGCTGCAGTCACTGCCTG TACAGCGCCTCCTTCTCACAGGTCAGCTGCTGATAGGCGGCCACCTGCTG CTGATAGGTGGCCACGTACTGCTGCAGGTGACCCAGGTAATGGTCTGGCT GCTGCTGCAGACTCTGAGCCTCTTGGCTCTTCAGCTCCACCTGCAGGAAG ACCCTGGGTGTGAGGGCACGTGGTGGCTGGTTTGCAGATTCTGGGCCCAT TAATAGGGTAGCGAGGGCACTGTGGGGCTCTGTCGCCTGCCCAGGCCCCT GGCCCCTTACTTCAGGCCTAAGTGACTGCCTTGCTTTCCTAGAACCCCAT GCCTCCTTCCCCAGCCTCAAATCTCATGTCCTCTTCCCACCATTTCAACT GTAGGCCACAGAATGGTAGAAAAGTATGGGAGCCAACCACCATCTGCTAA ATGTGCTACAGGCCTAATGCTTCCCATGTATTATCTCATTTAATCCTCAG CACCTCTGTAAGGAAAATGCTAACTTCCTTTTGAAGTTAAAGAAACAGAG ACTTAGAGATGCGAAGTACTTGAATGGTGACCAGTGGAACTGAGGCTGGA ATCCAGTTTTAATCTAAGGAGTCTTTTTGTTTTGTTTTGAGACAGAGTGT CACTCTGTGGCCCAGGCAGGAGTGCAGTGGTGCAATCTCAGCTCACTGCA ACCTCCACCTCCTGGGCTCAAGCAATTCTCGTGCCTCAGCCTCCTGAGTA GGTGGGATTACAGGCATGCGCCACCACCATGCCCCACTAATTTTTCTTTC TTTTTTTGTTTTTTGTTTTTGTAATTTTAGTAGAGATGAGGTTTTACCAT GTTGGCCAGGCTGATCTCAAACTCCAAACCTCAAGTGATTCTCCTGCCTC AGCCTCCCAAAGTGTTGGCACTATAGGCGTAAGCCACCGCATCTGGCATA AGAAGACTGTTATACCACTCTGTCTCTTCCCCTGTGATTGGGGGGGCTCC ATGTCTCTAGCTGGAATGATGATGTCCAGACCTGGGAGGAGCCCAGGGCT ACCCACCTCTAAAATCAGAGGGCAGGAAGCAAGAAACAGCCACAGGACTG CCCTGGAGGGTGCTGGGGTCACCTGCCCCCGGGCTGGAGCTACCGCTGGC CTGGCACCTCCCCTCCCCAGAGGCTGGTGCCCACCCACCTCCCAGACCTT CTTGGATGGGGTGGAGGTTACCGTCTCCTTCACCTTGCCTAGCTTCTCCT GCAGCTCCTTTACTTGCTGCTCCAACTGTAGTACGCTCTTGTTCTCATTG TTCTGGACAGAGAGAAGCAATCAGCAGCCACCCACTGCAGCTGGAGACCC CAGAACTTGGTGACTGCCTCCCATGGCACCGGGAAGGGTGGAGGCAGGTT AGAAAAATCATCCCCTGTCTCCCACAGCCACCAGAGCAGGGCTCTGGCTC ACAGGTGCCTTTAGGAGTAACATTTCACTTGAGGGCTACACTGCCCCATT TTATAGGTGGGGAAACAAAGGCCTGGAGGGCTAGGGAGGAGGGCAAGCTC CCCAGCTGGGGCAACGCACCAGCTCCTTGAAGCTGTTCTGTGGCTCGGCC AGCTGCTGAAGCCTCTCCTCCTGCTCTGGAAGCCTCTCCTGCTGCTCCTG AAGCCTCTCCTCCTGCTCCCGAAGCCTCTCCTTTTGCCCCTCATTCAGGA GACTTATGCGCTGATTGTACTCCACCTGG	A A	exon_loss_variant exon_loss_variant	HIGH	HG02055.hp1 HG02145.hp1 HG02809.hp2 others(2): Show HG02055.hp1 HG02145.hp1 HG02809.hp2 HG03139.hp1 NA18906.hp1	a0000 a0000	a0000c0004 a0000c0023 a0000c0004 a0000c0023	a0000c0004t0005 a0000c0004t0019 a0000c0023t0005 a0000c0004t0005 a0000c0004t0019 a0000c0023t0005	a0000c0004t0005g0004 a0000c0004t0019g0028 a0000c0023t0005g0027 a0000c0004t0005g0004 a0000c0004t0019g0028 a0000c0023t0005g0027	5	100	0.0500	-4928	c.101 others(10): Show c.1011_*1086del		GOLGA8G	ENSG00000183629.14	transcript	ENST00000525590.3	protein_coding	18/19	3095/4971					chr15	TogoVar
GPR33_chr14_31477875_31493039	31483548	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(423): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 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 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.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 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.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 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.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 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.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 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 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 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.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 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.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 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.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 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.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 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0007 others(7): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0003c0004t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(82): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0006 a0001c0001t0002g0024 a0001c0001t0005g0036 a0001c0003t0001g0013 a0001c0003t0001g0029 a0001c0003t0001g0034 a0001c0003t0001g0056 a0001c0003t0001g0071 a0001c0003t0001g0075 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0007t0001g0044 a0001c0008t0001g0048 a0001c0009t0001g0078 a0001c0010t0001g0043 a0001c0011t0001g0054 a0001c0012t0001g0055 a0003c0004t0001g0017 a0003c0004t0001g0027 a0004c0005t0001g0063 a0004c0005t0001g0067	426	448	0.9509	0	c.418 others(3): Show c.418C>T	p.Arg others(4): Show p.Arg140*	GPR33	ENSG00000214943.5	transcript	ENST00000399285.5	protein_coding	2/2	567/1240	418/1002	140/333			chr14	TogoVar
GPR6_chr6_109973311_109985720	109978468	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0006 a0001c0001t0010g0006	1	452	0.0022	0	c.-19 others(5): Show c.-19+1G>T		GPR6	ENSG00000146360.9	transcript	ENST00000275169.5	protein_coding	1/1						chr6	TogoVar
GTF2H2_chr5_71030347_71072676	71061283	G G	A A	stop_gained stop_gained	HIGH	HG03139.hp2 HG03139.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0026 a0004c0007t0001g0026	1	79	0.0127	0	c.160 others(3): Show c.160C>T	p.Arg others(3): Show p.Arg54*	GTF2H2	ENSG00000145736.15	transcript	ENST00000274400.10	protein_coding	4/16	376/1734	160/1188	54/395			chr5	TogoVar
GUCA1C_chr3_108902792_108958879	108916126	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(107): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00639.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02015.hp1 HG02055.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03927.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp2 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19072.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19086.hp1 NA19087.hp1 NA20129.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0002c0002 a0002c0004 others(6): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0005c0006 a0006c0007 a0007c0008 a0008c0009	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(6): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0003c0003t0001 a0004c0005t0001 a0005c0006t0001 a0006c0007t0001 a0007c0008t0001 a0008c0009t0001	a0001c0001t0001g0052 a0001c0001t0001g0118 a0001c0001t0001g0120 others(106): Show a0001c0001t0001g0052 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0228 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0301 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0002c0002t0001g0017 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0041 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0076 a0002c0002t0001g0115 a0002c0002t0001g0232 a0002c0002t0001g0271 a0002c0002t0001g0274 a0002c0002t0001g0276 a0002c0002t0001g0278 a0002c0002t0001g0280 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0315 a0002c0002t0001g0317 a0002c0002t0001g0322 a0002c0004t0001g0357 a0002c0004t0001g0359 a0002c0004t0001g0361 a0002c0004t0001g0362 a0003c0003t0001g0006 a0003c0003t0001g0011 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0025 a0003c0003t0001g0054 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0059 a0003c0003t0001g0082 a0003c0003t0001g0087 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0094 a0003c0003t0001g0096 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0106 a0003c0003t0001g0109 a0003c0003t0001g0111 a0003c0003t0001g0146 a0003c0003t0001g0327 a0003c0003t0001g0331 a0003c0003t0001g0332 a0003c0003t0001g0347 a0003c0003t0001g0352 a0003c0003t0001g0353 a0003c0003t0001g0354 a0004c0005t0001g0033 a0004c0005t0001g0233 a0004c0005t0001g0234 a0004c0005t0001g0261 a0004c0005t0001g0263 a0004c0005t0001g0264 a0005c0006t0001g0155 a0006c0007t0001g0062 a0006c0007t0001g0067 a0006c0007t0001g0113 a0007c0008t0001g0270 a0007c0008t0001g0273 a0008c0009t0001g0237 a0008c0009t0001g0238	110	374	0.2941	0	c.442 others(5): Show c.442+1G>T		GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	3/3						chr3	TogoVar
HAGH_chr16_1802629_1831825	1826775	G G	A A	stop_gained stop_gained	HIGH	HG03139.hp1 HG03139.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0003 a0005c0019t0003	a0005c0019t0003g0317 a0005c0019t0003g0317	1	436	0.0023	0	c.13C others(2): Show c.13C>T	p.Arg others(2): Show p.Arg5*	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding	1/9	51/2619	13/927	5/308			chr16	TogoVar
HIBCH_chr2_190198920_190324826	190319749	A A	G G	start_lost start_lost	HIGH	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(101): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02074.hp2 HG02109.hp2 HG02135.hp2 HG02155.hp2 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18941.hp2 NA18942.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18975.hp2 NA18981.hp2 NA18983.hp2 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18997.hp2 NA18998.hp2 NA19010.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0003c0009 a0004c0004 a0003c0003 a0003c0009 a0004c0004	a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 others(8): Show a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0003c0003t0007 a0003c0003t0009 a0003c0003t0013 a0003c0003t0014 a0003c0003t0017 a0003c0003t0020 a0003c0009t0003 a0004c0004t0005	a0003c0003t0002g0194 a0003c0003t0002g0198 a0003c0003t0002g0202 others(99): Show a0003c0003t0002g0194 a0003c0003t0002g0198 a0003c0003t0002g0202 a0003c0003t0003g0002 a0003c0003t0003g0012 a0003c0003t0003g0013 a0003c0003t0003g0014 a0003c0003t0003g0015 a0003c0003t0003g0016 a0003c0003t0003g0017 a0003c0003t0003g0018 a0003c0003t0003g0019 a0003c0003t0003g0020 a0003c0003t0003g0022 a0003c0003t0003g0023 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0029 a0003c0003t0003g0030 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0038 a0003c0003t0003g0039 a0003c0003t0003g0040 a0003c0003t0003g0041 a0003c0003t0003g0042 a0003c0003t0003g0044 a0003c0003t0003g0045 a0003c0003t0003g0046 a0003c0003t0003g0047 a0003c0003t0003g0048 a0003c0003t0003g0049 a0003c0003t0003g0050 a0003c0003t0003g0051 a0003c0003t0003g0052 a0003c0003t0003g0053 a0003c0003t0003g0054 a0003c0003t0003g0057 a0003c0003t0003g0058 a0003c0003t0003g0059 a0003c0003t0003g0060 a0003c0003t0003g0061 a0003c0003t0003g0062 a0003c0003t0003g0063 a0003c0003t0003g0064 a0003c0003t0003g0065 a0003c0003t0003g0066 a0003c0003t0003g0067 a0003c0003t0003g0068 a0003c0003t0003g0069 a0003c0003t0003g0070 a0003c0003t0003g0071 a0003c0003t0003g0072 a0003c0003t0003g0073 a0003c0003t0003g0074 a0003c0003t0003g0075 a0003c0003t0003g0077 a0003c0003t0003g0078 a0003c0003t0003g0079 a0003c0003t0003g0080 a0003c0003t0003g0081 a0003c0003t0005g0006 a0003c0003t0005g0179 a0003c0003t0005g0180 a0003c0003t0005g0181 a0003c0003t0005g0182 a0003c0003t0005g0183 a0003c0003t0005g0184 a0003c0003t0005g0185 a0003c0003t0005g0186 a0003c0003t0005g0187 a0003c0003t0005g0188 a0003c0003t0005g0189 a0003c0003t0005g0190 a0003c0003t0005g0191 a0003c0003t0005g0192 a0003c0003t0005g0193 a0003c0003t0005g0195 a0003c0003t0005g0196 a0003c0003t0005g0197 a0003c0003t0005g0203 a0003c0003t0005g0204 a0003c0003t0007g0011 a0003c0003t0007g0021 a0003c0003t0007g0031 a0003c0003t0007g0037 a0003c0003t0009g0055 a0003c0003t0009g0056 a0003c0003t0013g0043 a0003c0003t0014g0178 a0003c0003t0017g0205 a0003c0003t0020g0354 a0003c0009t0003g0076 a0004c0004t0005g0199 a0004c0004t0005g0200 a0004c0004t0005g0201	104	368	0.2826	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	HIBCH	ENSG00000198130.16	transcript	ENST00000359678.10	protein_coding	1/14	78/2434	2/1161	1/386			chr2	TogoVar
HID1_chr17_74945742_74977759	74963082	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02055.hp2 HG02622.hp2 HG02630.hp1 others(8): Show HG02055.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02809.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0019 a0001c0001 a0001c0006 a0001c0019	a0001c0001t0001 a0001c0006t0001 a0001c0019t0002 a0001c0001t0001 a0001c0006t0001 a0001c0019t0002	a0001c0001t0001g0187 a0001c0006t0001g0020 a0001c0006t0001g0021 others(3): Show a0001c0001t0001g0187 a0001c0006t0001g0020 a0001c0006t0001g0021 a0001c0006t0001g0038 a0001c0006t0001g0192 a0001c0019t0002g0188	11	364	0.0302	0	c.388 others(5): Show c.388-1G>T		HID1	ENSG00000167861.16	transcript	ENST00000425042.7	protein_coding	3/18						chr17	TogoVar
HLA-DRB1_chr6_32573775_32594848	32584364	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(128): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18955.hp1 NA18968.hp2 NA18969.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(20): Show a0002 a0003 a0005 a0006 a0007 a0011 a0012 a0014 a0015 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0027 a0028 a0029 a0030 a0031 a0032	a0002c0003 a0003c0002 a0005c0008 others(21): Show a0002c0003 a0003c0002 a0005c0008 a0005c0010 a0006c0005 a0007c0006 a0011c0012 a0012c0013 a0014c0015 a0015c0016 a0017c0019 a0018c0018 a0019c0020 a0021c0023 a0022c0022 a0023c0024 a0024c0027 a0025c0026 a0027c0030 a0028c0031 a0029c0032 a0030c0035 a0031c0034 a0032c0033	a0002c0003t0002 a0003c0002t0005 a0005c0008t0006 others(22): Show a0002c0003t0002 a0003c0002t0005 a0005c0008t0006 a0005c0010t0009 a0006c0005t0002 a0007c0006t0003 a0011c0012t0003 a0012c0013t0011 a0014c0015t0008 a0015c0016t0010 a0015c0016t0012 a0017c0019t0003 a0018c0018t0008 a0019c0020t0010 a0021c0023t0006 a0022c0022t0012 a0023c0024t0010 a0024c0027t0006 a0025c0026t0006 a0027c0030t0011 a0028c0031t0003 a0029c0032t0003 a0030c0035t0009 a0031c0034t0006 a0032c0033t0011	a0002c0003t0002g0008 a0002c0003t0002g0020 a0002c0003t0002g0021 others(76): Show a0002c0003t0002g0008 a0002c0003t0002g0020 a0002c0003t0002g0021 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0049 a0003c0002t0005g0005 a0003c0002t0005g0010 a0003c0002t0005g0014 a0003c0002t0005g0077 a0003c0002t0005g0078 a0003c0002t0005g0079 a0005c0008t0006g0024 a0005c0008t0006g0025 a0005c0008t0006g0026 a0005c0008t0006g0054 a0005c0008t0006g0056 a0005c0008t0006g0057 a0005c0010t0009g0027 a0005c0010t0009g0061 a0005c0010t0009g0062 a0005c0010t0009g0063 a0005c0010t0009g0064 a0005c0010t0009g0065 a0005c0010t0009g0075 a0006c0005t0002g0006 a0006c0005t0002g0016 a0006c0005t0002g0034 a0006c0005t0002g0035 a0006c0005t0002g0043 a0007c0006t0003g0007 a0007c0006t0003g0018 a0007c0006t0003g0051 a0007c0006t0003g0053 a0011c0012t0003g0009 a0011c0012t0003g0076 a0012c0013t0011g0082 a0012c0013t0011g0083 a0012c0013t0011g0085 a0012c0013t0011g0086 a0012c0013t0011g0087 a0012c0013t0011g0088 a0014c0015t0008g0028 a0014c0015t0008g0066 a0014c0015t0008g0067 a0014c0015t0008g0068 a0015c0016t0010g0080 a0015c0016t0012g0015 a0017c0019t0003g0017 a0017c0019t0003g0052 a0018c0018t0008g0039 a0018c0018t0008g0040 a0018c0018t0008g0041 a0018c0018t0008g0042 a0019c0020t0010g0030 a0019c0020t0010g0031 a0021c0023t0006g0071 a0021c0023t0006g0072 a0021c0023t0006g0073 a0022c0022t0012g0036 a0022c0022t0012g0037 a0022c0022t0012g0038 a0023c0024t0010g0029 a0023c0024t0010g0081 a0024c0027t0006g0058 a0024c0027t0006g0059 a0025c0026t0006g0069 a0025c0026t0006g0070 a0027c0030t0011g0089 a0028c0031t0003g0050 a0029c0032t0003g0074 a0030c0035t0009g0060 a0031c0034t0006g0055 a0032c0033t0011g0084	131	208	0.6298	0	c.115 others(3): Show c.115C>T	p.Gln others(3): Show p.Gln39*	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	2/6	221/1223	115/801	39/266			chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32584366	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(133): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18955.hp1 NA18968.hp2 NA18969.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(21): Show a0002 a0003 a0005 a0006 a0007 a0011 a0012 a0013 a0014 a0015 a0017 a0018 a0019 a0021 a0022 a0023 a0024 a0025 a0027 a0028 a0029 a0030 a0031 a0032	a0002c0003 a0003c0002 a0005c0008 others(22): Show a0002c0003 a0003c0002 a0005c0008 a0005c0010 a0006c0005 a0007c0006 a0011c0012 a0012c0013 a0013c0014 a0014c0015 a0015c0016 a0017c0019 a0018c0018 a0019c0020 a0021c0023 a0022c0022 a0023c0024 a0024c0027 a0025c0026 a0027c0030 a0028c0031 a0029c0032 a0030c0035 a0031c0034 a0032c0033	a0002c0003t0002 a0003c0002t0005 a0005c0008t0006 others(23): Show a0002c0003t0002 a0003c0002t0005 a0005c0008t0006 a0005c0010t0009 a0006c0005t0002 a0007c0006t0003 a0011c0012t0003 a0012c0013t0011 a0013c0014t0013 a0014c0015t0008 a0015c0016t0010 a0015c0016t0012 a0017c0019t0003 a0018c0018t0008 a0019c0020t0010 a0021c0023t0006 a0022c0022t0012 a0023c0024t0010 a0024c0027t0006 a0025c0026t0006 a0027c0030t0011 a0028c0031t0003 a0029c0032t0003 a0030c0035t0009 a0031c0034t0006 a0032c0033t0011	a0002c0003t0002g0008 a0002c0003t0002g0020 a0002c0003t0002g0021 others(77): Show a0002c0003t0002g0008 a0002c0003t0002g0020 a0002c0003t0002g0021 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0049 a0003c0002t0005g0005 a0003c0002t0005g0010 a0003c0002t0005g0014 a0003c0002t0005g0077 a0003c0002t0005g0078 a0003c0002t0005g0079 a0005c0008t0006g0024 a0005c0008t0006g0025 a0005c0008t0006g0026 a0005c0008t0006g0054 a0005c0008t0006g0056 a0005c0008t0006g0057 a0005c0010t0009g0027 a0005c0010t0009g0061 a0005c0010t0009g0062 a0005c0010t0009g0063 a0005c0010t0009g0064 a0005c0010t0009g0065 a0005c0010t0009g0075 a0006c0005t0002g0006 a0006c0005t0002g0016 a0006c0005t0002g0034 a0006c0005t0002g0035 a0006c0005t0002g0043 a0007c0006t0003g0007 a0007c0006t0003g0018 a0007c0006t0003g0051 a0007c0006t0003g0053 a0011c0012t0003g0009 a0011c0012t0003g0076 a0012c0013t0011g0082 a0012c0013t0011g0083 a0012c0013t0011g0085 a0012c0013t0011g0086 a0012c0013t0011g0087 a0012c0013t0011g0088 a0013c0014t0013g0011 a0014c0015t0008g0028 a0014c0015t0008g0066 a0014c0015t0008g0067 a0014c0015t0008g0068 a0015c0016t0010g0080 a0015c0016t0012g0015 a0017c0019t0003g0017 a0017c0019t0003g0052 a0018c0018t0008g0039 a0018c0018t0008g0040 a0018c0018t0008g0041 a0018c0018t0008g0042 a0019c0020t0010g0030 a0019c0020t0010g0031 a0021c0023t0006g0071 a0021c0023t0006g0072 a0021c0023t0006g0073 a0022c0022t0012g0036 a0022c0022t0012g0037 a0022c0022t0012g0038 a0023c0024t0010g0029 a0023c0024t0010g0081 a0024c0027t0006g0058 a0024c0027t0006g0059 a0025c0026t0006g0069 a0025c0026t0006g0070 a0027c0030t0011g0089 a0028c0031t0003g0050 a0029c0032t0003g0074 a0030c0035t0009g0060 a0031c0034t0006g0055 a0032c0033t0011g0084	136	208	0.6539	0	c.113 others(3): Show c.113G>A	p.Trp others(3): Show p.Trp38*	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	2/6	219/1223	113/801	38/266			chr6	TogoVar
HP_chr16_72049505_72066055	72056410	GGCTTCTA others(1717): Show GGCTTCTATTCGGGGTGGAAGGAGATTGATGTGCAGAGCAGCTCCCGCTC ATCTGACTTTTCACGGTTCACTGGGAACAATTTCCAAATAGCAAACTCTC TGGCTTCTCTCTCTTTGCAGATGACGGCTGCCCGAAGCCCCCCGAGATTG CACATGGCTATGTGGAGCACTCGGTTCGCTACCAGTGTAAGAACTACTAC AAACTGCGCACAGAAGGAGATGGTAAGATGTGGACAACTGTCTCCATGCC CTACATACAACCCCCTTCTCTGACATTTCCATGATGGGTGGTGCTGAGGT GATTCGCCAGAAAGTTCGTTGCTCTCCTTGGAGCCAGGAGATTTAGATTC TAATAAGCGTTTTGTCGCCAGTAGCCATGGCCCTTTGGGCAGACTAACTT TTGTCAGCCTCAAGTTTTCTGTTTTGTTAAGGGGAGGCGATGCCATGCAG CCTACCTCATGTAAATCTCAGAGTCACATTTACATCTCCAGCAGATGTGG GAAAAGAAGGAATGCTGATGATGATGTCACCCTCACCTAGTGAGTCTTGC TGTCCTGGCACTGCTCTAAGGGCTTTATACTTATTTGCTCACTTAGTCCT CACAGTATCCCTCTGAACAGAGTTTATTGTTTTCACTTTGCTGATAAGGA AACTGAGGCACAGACAGGTTGAGTATCTTGCCCAAATTCAGGCAGCCTGT AAGAGGCAGAGTCAGGATTTGAACCCTGAGCCCTCCCTGTACTGCTTGGC TGTGACCGCCATGACCACAGTGTGTTCTGCTGGGCTTAACTGGTGTCCAG GCACTTGGCTTCCAGCACAGCACTCTTTCCCTTCCTCCTTCTCATATTCT CTCTCCTTTCTCCCTTCCTGTCTGCCTCCTTTCTTCTTCTTCTTTTTAAT TCTTCTCCTTAAATGCCTTCTCACTCTGCTCTGGGTGCAGACTTGACTTT TCCTTTGGCTCATTTCTTGCCTTTTGTTTCAGGAGTATACACCTTAAATG ATAAGAAGCAGTGGATAAATAAGGCTGTTGGAGATAAACTTCCTGAATGT GAAGCAGGTGGGTGCTGAGCACTGAGCACTTAAGAGAGCAGGCAGGCGTC CAGCGGGGAACGTCCTAGAGGCACAGCCTTCCAGTGCGGCTTCCTCTGAG CACACAAGAGCCAGGAGGAGGGATGTGGGAGAACCGCAGCTGGCCAGGGA GAGACTTAAGCAGTTAGGTGATGACTCCCTAAGGGTCACCAAGGGTCTTG TTCATTGGGGCCTGAAGGGCACTGGCTGAATCCACTGTCGGCACTGCCCA CAGATCAGGAGAGCCTGTGCATACAGAGAGCCTGCTAGAAAGCCCTGGGT CTAAGGAGAAGCAAGCTCCAGGGAGAACAAGTCAAGGAATGACATAAAAT CTTAATCCATGGAAGCCTAGCAGGAGGCTGGACATGGGCTGGAACTCCTG CTTCTCGTTATTAGGAGGAGCTGTTGCTCTCTCCTTTCATTCTCAGAACC AGAGGCAAAGACCCAGCCTCTTCTGCTCTTACTGGTGTGGAAATGCCAAC CTGCCTCGTATTAACTGCACCATCTACAAAATCTGAGCTCCAGCCAGTGC TGCTCTAGATTCATCTTTCTTTAGAGAGAATGAATTATTGTAGCCCCTAG CCCTTTCAATGAATTTCAGGGAATTGTGGAAATTCCTTTATTGGGATAAT TGTTTAAAAATAATACAGTTCGCGA	G G	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00438.hp2 others(102): Show HG00099.hp1 HG00099.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp2 HG01109.hp1 HG01123.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03704.hp2 HG03831.hp2 HG04184.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18944.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18979.hp1 NA18981.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19072.hp1 NA19074.hp1 NA19075.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0018 a0002c0002 a0002c0006 a0002c0018	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0002t0010 a0002c0006t0001 a0002c0018t0001	a0002c0002t0001g0002 a0002c0002t0001g0018 a0002c0002t0001g0023 others(6): Show a0002c0002t0001g0002 a0002c0002t0001g0018 a0002c0002t0001g0023 a0002c0002t0002g0011 a0002c0002t0004g0007 a0002c0002t0007g0026 a0002c0002t0010g0007 a0002c0006t0001g0002 a0002c0018t0001g0002	105	425	0.2471	-1724	c.191 others(15): Show c.191-189_368-188del		HP	ENSG00000257017.10	transcript	ENST00000355906.10	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr16	TogoVar
HP_chr16_72049505_72066055	72057480	ACTGAGCA others(1708): Show ACTGAGCACTTAAGAGAGCAGGCAGGCGTCCAGCGGGGAACGTCCTAGAG GCACAGCCTTCCAGTGCGGCTTCCTCTGAGCACACAAGAGCCAGGAGGAG GGATGTGGGAGAACCGCAGCTGGCCAGGGAGAGACTTAAGCAGTTAGGTG ATGACTCCCTAAGGGTCACCAAGGGTCTTGTTCATTGGGGCCTGAAGGGC ACTGGCTGAATCCACTGTCGGCACTGCCCACAGATCAGGAGAGCCTGTGC ATACAGAGAGCCTGCTAGAAAGCCCTGGGTCTAAGGAGAAGCAAGCTCCA GGGAGAACAAGTCAAGGAATGACATAAAATCTTAATCCATGGAAGCCTAG CAGGAGGCTGGACATGGGCTGGAACTCCTGCTTCTCGTTATTAGGAGGAG CTGTTGCTCTCTCCTTTCATTCTCAGAACCAGAGGCAAAGACCCAGCCTC TTCTGCTCTTACTGGTGTGGAAATGCCAACCTGCCTCGTATTAACTGCAC CATCTACAAAATCTGAGCTCCAGCCAGTGCTGCTCTAGATTCATCTTTCT TTAGAGAGAATGAATTATTGTAGCCCCTAGCCCTTTCAATGAATTTCAGG GAATTGTGGAAATTCCTTTATTGGGATAATTGTTTAAAAATAATACAGTT CGCGAGCTTCTATTCGGGGTGGAAGGAGATTGATGTGCAGAGCAGCTCCC GCTCATCTGACTTTTCACGGTTCACTGGGAACAATTTCCAAATAGCAAAC TCTCTGGCTTCTCTCTCTTTGCAGATGACGGCTGCCCGAAGCCCCCCGAG ATTGCACATGGCTATGTGGAGCACTCGGTTCGCTACCAGTGTAAGAACTA CTACAAACTGCGCACAGAAGGAGATGGTAAGATGTGGACAACTGTCTCCA TGCCCTACATACAACCCCCTTCTCTGACATTTCCATGATGGGTGGTGCTG AGGTGATTCGCCAGAAAGTTCGTTGCTCTCCTTGGAGCCAGGAGATTTAG ATTCTAATAAGCGTTTTGTCGCCAGTAGCCATGGCCCTTTGGGCAGACTA ACTTTTGTCAGCCTCAAGTTTTCTGTTTTGTTAAGGGGAGGCGATGCCAT GCAGCCTACCTCATGTAAATCTCAGAGTCACATTTACATCTCCAGCAGAT GTGGGAAAAGAAGGAATGCTGATGATGATGTCACCCTCACCTAGTGAGTC TTGCTGTCCTGGCACTGCTCTAAGGGCTTTATACTTATTTGCTCACTTAG TCCTCACAGTATCCCTCTGAACAGAGTTTATTGTTTTCACTTTGCTGATA AGGAAACTGAGGCACAGACAGGTTGAGTATCTTGCCCAAATTCAGGCAGC CTGTAAGAGGCAGAGTCAGGATTTGAACCCTGAGCCCTCCCTGTACTGCT TGGCTGTGACCGCCATGACCACAGTGTGTTCTGCTGGGCTTAACTGGCAT CCAGGCACTTGGCTTCCAGCACAGCACTCTTTCCCTTCCTCCTTCTCATA TACTCTCTCCTTTTCCCCTTCCTTTTTGTCCCCTTTTCCTCTTCCTTTTA GTTCTTCTCTTTAAATGCCTTCTCACTCTGCACGGGGTCTAGACTTGACT TCTCCTTTGGCTCACTTCTTGCCTTTTGTTTCAGGAGTGTACACCTTAAA CAATGAGAAGCAGTGGATAAATAAGGCTGTTGGAGATAAACTTCCTGAAT GTGAAGCAGGTGGGTG	A A	exon_loss_variant exon_loss_variant	HIGH	HG00733.hp2 HG00738.hp2 HG01074.hp1 others(55): Show HG00733.hp2 HG00738.hp2 HG01074.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03688.hp2 HG06807.hp2 NA18522.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0003 a0003c0003t0008 a0003c0003t0002 a0003c0003t0003 a0003c0003t0008	a0003c0003t0002g0004 a0003c0003t0002g0035 a0003c0003t0002g0040 others(6): Show a0003c0003t0002g0004 a0003c0003t0002g0035 a0003c0003t0002g0040 a0003c0003t0003g0004 a0003c0003t0003g0012 a0003c0003t0003g0027 a0003c0003t0003g0032 a0003c0003t0003g0034 a0003c0003t0008g0004	58	425	0.1365	-1715	c.265 others(15): Show c.265+200_442+192del		HP	ENSG00000257017.10	transcript	ENST00000355906.10	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr16	TogoVar
HSD17B13_chr4_87298794_87327882	87313944	CG CG	C C	frameshift_variant frameshift_variant	HIGH	HG00639.hp2 HG01884.hp1 HG02257.hp1 others(25): Show HG00639.hp2 HG01884.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02622.hp1 HG02717.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG06807.hp1 NA18522.hp2 NA20129.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0002t0005 a0002c0002t0009 others(2): Show a0002c0002t0001 a0002c0002t0005 a0002c0002t0009 a0002c0004t0007 a0002c0004t0013	a0002c0002t0001g0038 a0002c0002t0001g0056 a0002c0002t0001g0180 others(19): Show a0002c0002t0001g0038 a0002c0002t0001g0056 a0002c0002t0001g0180 a0002c0002t0005g0003 a0002c0002t0005g0012 a0002c0002t0005g0013 a0002c0002t0005g0014 a0002c0002t0005g0043 a0002c0002t0005g0044 a0002c0002t0005g0045 a0002c0002t0005g0046 a0002c0002t0005g0047 a0002c0002t0009g0037 a0002c0002t0009g0039 a0002c0002t0009g0040 a0002c0002t0009g0041 a0002c0002t0009g0042 a0002c0004t0007g0048 a0002c0004t0007g0049 a0002c0004t0007g0051 a0002c0004t0007g0054 a0002c0004t0013g0052	28	442	0.0634	-1	c.573 others(4): Show c.573delC	p.Ala others(5): Show p.Ala192fs	HSD17B13	ENSG00000170509.12	transcript	ENST00000328546.5	protein_coding	5/7	614/2368	573/903	191/300			chr4	TogoVar
HTN3_chr4_70023459_70041538	70033205	T T	A A	stop_gained stop_gained	HIGH	HG01109.hp2 HG01243.hp2 HG01891.hp1 others(14): Show HG01109.hp2 HG01243.hp2 HG01891.hp1 HG02109.hp1 HG02145.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0006 a0002c0003t0002g0013 a0002c0003t0002g0031 others(1): Show a0002c0003t0002g0006 a0002c0003t0002g0013 a0002c0003t0002g0031 a0002c0003t0002g0032	17	412	0.0413	0	c.141 others(3): Show c.141T>A	p.Tyr others(3): Show p.Tyr47*	HTN3	ENSG00000205649.9	transcript	ENST00000673563.1	protein_coding	5/6	212/532	141/156	47/51			chr4	TogoVar
ICAM5_chr19_10284952_10301778	10293783	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00642.hp1 HG00642.hp2 HG00673.hp1 others(32): Show HG00642.hp1 HG00642.hp2 HG00673.hp1 HG01106.hp1 HG01169.hp2 HG01175.hp2 HG01261.hp1 HG01515.hp1 HG01978.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02145.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02895.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 NA18906.hp1 NA18944.hp2 NA18950.hp1 NA18961.hp1 NA18967.hp2 NA18981.hp1 NA18987.hp1 NA18994.hp2 NA19063.hp1 NA19067.hp1 NA19067.hp2 NA20129.hp2	a0003 a0004 a0003 a0004	a0003c0005 a0003c0008 a0003c0012 others(4): Show a0003c0005 a0003c0008 a0003c0012 a0003c0019 a0004c0006 a0004c0007 a0004c0016	a0003c0005t0001 a0003c0008t0001 a0003c0012t0001 others(4): Show a0003c0005t0001 a0003c0008t0001 a0003c0012t0001 a0003c0019t0001 a0004c0006t0001 a0004c0007t0001 a0004c0016t0001	a0003c0005t0001g0001 a0003c0005t0001g0003 a0003c0005t0001g0014 others(13): Show a0003c0005t0001g0001 a0003c0005t0001g0003 a0003c0005t0001g0014 a0003c0008t0001g0004 a0003c0008t0001g0005 a0003c0008t0001g0006 a0003c0008t0001g0031 a0003c0008t0001g0039 a0003c0012t0001g0009 a0003c0019t0001g0001 a0004c0006t0001g0002 a0004c0006t0001g0016 a0004c0007t0001g0002 a0004c0007t0001g0007 a0004c0007t0001g0019 a0004c0016t0001g0002	35	432	0.0810	1	c.155 others(5): Show c.1555dupG	p.Val others(5): Show p.Val519fs	ICAM5	ENSG00000105376.5	transcript	ENST00000221980.5	protein_coding	7/11	1648/3029	1556/2775	519/924		INFO_REALIGN_3_PRIME	chr19	TogoVar
IDO2_chr8_39929651_40021392	40015416	T T	A A	stop_gained stop_gained	HIGH	HG00280.hp1 HG00558.hp2 HG00597.hp1 others(103): Show HG00280.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02683.hp2 HG03098.hp1 HG03139.hp2 HG03453.hp1 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp2 HG06807.hp2 NA18945.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18961.hp1 NA18962.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18979.hp1 NA18981.hp2 NA18986.hp2 NA18989.hp1 NA18993.hp1 NA19000.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp1	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0003 a0004c0004 a0005c0005 a0003c0003 a0004c0004 a0005c0005	a0003c0003t0002 a0003c0003t0003 a0003c0003t0010 others(14): Show a0003c0003t0002 a0003c0003t0003 a0003c0003t0010 a0003c0003t0020 a0003c0003t0022 a0004c0004t0002 a0004c0004t0003 a0004c0004t0005 a0004c0004t0009 a0004c0004t0010 a0004c0004t0021 a0005c0005t0002 a0005c0005t0003 a0005c0005t0005 a0005c0005t0009 a0005c0005t0010 a0005c0005t0019	a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0021 others(102): Show a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0021 a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0033 a0003c0003t0002g0035 a0003c0003t0002g0040 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0002g0043 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0047 a0003c0003t0002g0048 a0003c0003t0002g0049 a0003c0003t0002g0052 a0003c0003t0002g0053 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0059 a0003c0003t0002g0064 a0003c0003t0002g0065 a0003c0003t0002g0066 a0003c0003t0002g0068 a0003c0003t0002g0073 a0003c0003t0002g0074 a0003c0003t0002g0075 a0003c0003t0002g0076 a0003c0003t0002g0078 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0003g0106 a0003c0003t0003g0121 a0003c0003t0003g0264 a0003c0003t0003g0265 a0003c0003t0003g0266 a0003c0003t0003g0275 a0003c0003t0003g0277 a0003c0003t0003g0278 a0003c0003t0003g0279 a0003c0003t0003g0283 a0003c0003t0003g0289 a0003c0003t0003g0293 a0003c0003t0003g0297 a0003c0003t0003g0298 a0003c0003t0003g0303 a0003c0003t0003g0317 a0003c0003t0003g0321 a0003c0003t0003g0322 a0003c0003t0003g0337 a0003c0003t0003g0348 a0003c0003t0003g0349 a0003c0003t0003g0350 a0003c0003t0003g0357 a0003c0003t0010g0105 a0003c0003t0010g0183 a0003c0003t0010g0186 a0003c0003t0010g0225 a0003c0003t0010g0228 a0003c0003t0010g0231 a0003c0003t0010g0244 a0003c0003t0010g0246 a0003c0003t0020g0037 a0003c0003t0022g0072 a0004c0004t0002g0038 a0004c0004t0002g0054 a0004c0004t0002g0077 a0004c0004t0003g0122 a0004c0004t0003g0124 a0004c0004t0003g0125 a0004c0004t0003g0201 a0004c0004t0003g0203 a0004c0004t0003g0276 a0004c0004t0003g0280 a0004c0004t0003g0355 a0004c0004t0005g0104 a0004c0004t0009g0195 a0004c0004t0009g0260 a0004c0004t0009g0267 a0004c0004t0009g0270 a0004c0004t0010g0190 a0004c0004t0010g0213 a0004c0004t0010g0237 a0004c0004t0010g0238 a0004c0004t0021g0007 a0005c0005t0002g0001 a0005c0005t0002g0020 a0005c0005t0002g0028 a0005c0005t0002g0030 a0005c0005t0002g0039 a0005c0005t0002g0046 a0005c0005t0002g0062 a0005c0005t0002g0069 a0005c0005t0003g0151 a0005c0005t0003g0290 a0005c0005t0003g0310 a0005c0005t0003g0312 a0005c0005t0003g0346 a0005c0005t0005g0131 a0005c0005t0009g0194 a0005c0005t0010g0220 a0005c0005t0010g0221 a0005c0005t0010g0222 a0005c0005t0019g0082	106	360	0.2944	0	c.103 others(4): Show c.1038T>A	p.Tyr others(4): Show p.Tyr346*	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	11/11	1623/2599	1038/1224	346/407			chr8	TogoVar
IFNA10_chr9_21201181_21212143	21207038	A A	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00323.hp1 HG00544.hp2 others(191): Show HG00099.hp1 HG00323.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02895.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0004 others(9): Show a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0006 a0002c0007 a0002c0009 a0002c0010 a0002c0013 a0002c0015 a0002c0016 a0002c0017	a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 others(13): Show a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 a0002c0003t0001 a0002c0003t0005 a0002c0003t0007 a0002c0004t0002 a0002c0005t0002 a0002c0006t0004 a0002c0007t0004 a0002c0009t0006 a0002c0010t0004 a0002c0013t0002 a0002c0015t0002 a0002c0016t0005 a0002c0017t0011	a0002c0002t0002g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 others(13): Show a0002c0002t0002g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 a0002c0003t0001g0000 a0002c0003t0005g0000 a0002c0003t0007g0000 a0002c0004t0002g0000 a0002c0005t0002g0000 a0002c0006t0004g0000 a0002c0007t0004g0000 a0002c0009t0006g0000 a0002c0010t0004g0000 a0002c0013t0002g0000 a0002c0015t0002g0000 a0002c0016t0005g0000 a0002c0017t0011g0000	194	457	0.4245	0	c.60T others(2): Show c.60T>A	p.Cys others(3): Show p.Cys20*	IFNA10	ENSG00000186803.3	transcript	ENST00000357374.2	protein_coding	1/1	106/963	60/570	20/189			chr9	TogoVar
INTS3_chr1_153723050_153779808	153770198	TTCAGAGC others(9): Show TTCAGAGCCTAGACTGG	T T	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0278 a0003c0005t0001g0278	1	349	0.0029	-16	c.239 others(25): Show c.2391_2406delTCAGAGCCTAGACTGG	p.Ile others(5): Show p.Ile797fs	INTS3	ENSG00000143624.14	transcript	ENST00000318967.7	protein_coding	24/30	2976/5252	2391/3129	797/1042			chr1	TogoVar
IRX5_chr16_54925865_54939485	54933218	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00408.hp2 HG00597.hp1 others(30): Show HG00408.hp1 HG00408.hp2 HG00597.hp1 HG00597.hp2 HG01099.hp1 HG01106.hp1 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp2 HG01433.hp1 HG01934.hp2 HG01981.hp2 HG02074.hp1 HG02109.hp2 HG02257.hp2 HG02280.hp2 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG03139.hp2 HG03669.hp1 HG03688.hp2 HG03927.hp1 HG04115.hp2 NA18977.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19054.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0005 a0003c0004 a0004c0005	a0003c0004t0001 a0004c0005t0001 a0004c0005t0002 others(2): Show a0003c0004t0001 a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 a0004c0005t0004	a0003c0004t0001g0001 a0003c0004t0001g0009 a0004c0005t0001g0001 others(4): Show a0003c0004t0001g0001 a0003c0004t0001g0009 a0004c0005t0001g0001 a0004c0005t0002g0002 a0004c0005t0002g0004 a0004c0005t0003g0001 a0004c0005t0004g0003	33	390	0.0846	1	c.805 others(4): Show c.805dupC	p.Arg others(5): Show p.Arg269fs	IRX5	ENSG00000176842.16	transcript	ENST00000394636.9	protein_coding	3/3	1140/2398	806/1452	269/483		INFO_REALIGN_3_PRIME	chr16	TogoVar
JSRP1_chr19_2247252_2261417	2255312	C C	G G	start_lost start_lost	HIGH	HG00423.hp2 HG00438.hp1 HG00544.hp2 others(111): Show HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp2 HG00738.hp1 HG01069.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01346.hp1 HG01884.hp2 HG01891.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18942.hp2 NA18946.hp1 NA18949.hp2 NA18952.hp1 NA18954.hp2 NA18959.hp2 NA18963.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA18994.hp1 NA18999.hp1 NA19002.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp2	a0003 a0004 a0008 others(1): Show a0003 a0004 a0008 a0012	a0003c0003 a0003c0010 a0003c0011 others(4): Show a0003c0003 a0003c0010 a0003c0011 a0003c0014 a0004c0004 a0008c0008 a0012c0013	a0003c0003t0001 a0003c0010t0001 a0003c0011t0001 others(4): Show a0003c0003t0001 a0003c0010t0001 a0003c0011t0001 a0003c0014t0001 a0004c0004t0001 a0008c0008t0001 a0012c0013t0001	a0003c0003t0001g0006 a0003c0003t0001g0007 a0003c0003t0001g0011 others(23): Show a0003c0003t0001g0006 a0003c0003t0001g0007 a0003c0003t0001g0011 a0003c0003t0001g0014 a0003c0003t0001g0025 a0003c0003t0001g0036 a0003c0003t0001g0041 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0076 a0003c0010t0001g0039 a0003c0010t0001g0043 a0003c0011t0001g0026 a0003c0014t0001g0042 a0004c0004t0001g0004 a0004c0004t0001g0021 a0004c0004t0001g0027 a0004c0004t0001g0038 a0004c0004t0001g0040 a0008c0008t0001g0022 a0012c0013t0001g0044	114	436	0.2615	0	c.3G> others(1): Show c.3G>C	p.Met others(2): Show p.Met1?	JSRP1	ENSG00000167476.10	transcript	ENST00000300961.10	protein_coding	2/7	68/1138	3/996	1/331			chr19	TogoVar
KCTD1_chr18_26449910_26553553	26547048	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00438.hp2 HG00621.hp2 HG00673.hp2 others(32): Show HG00438.hp2 HG00621.hp2 HG00673.hp2 HG00741.hp1 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01517.hp1 HG01934.hp2 HG01952.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02145.hp2 HG02572.hp2 HG02615.hp1 HG02886.hp1 HG03139.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 NA18942.hp1 NA18978.hp1 NA18983.hp1 NA18994.hp2 NA19056.hp1 NA19068.hp2 NA19077.hp1 NA19083.hp1	a0002 a0002	a0002c0003 a0002c0006 a0002c0014 others(1): Show a0002c0003 a0002c0006 a0002c0014 a0002c0016	a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 others(4): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0006t0001 a0002c0014t0003 a0002c0016t0001	a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0302 others(32): Show a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0302 a0002c0003t0001g0303 a0002c0003t0001g0306 a0002c0003t0001g0308 a0002c0003t0001g0309 a0002c0003t0001g0310 a0002c0003t0001g0311 a0002c0003t0001g0312 a0002c0003t0001g0314 a0002c0003t0001g0315 a0002c0003t0001g0316 a0002c0003t0001g0319 a0002c0003t0001g0320 a0002c0003t0001g0321 a0002c0003t0001g0322 a0002c0003t0001g0323 a0002c0003t0001g0324 a0002c0003t0001g0325 a0002c0003t0001g0326 a0002c0003t0001g0328 a0002c0003t0001g0329 a0002c0003t0002g0304 a0002c0003t0002g0307 a0002c0003t0002g0317 a0002c0003t0002g0318 a0002c0003t0004g0313 a0002c0003t0005g0327 a0002c0006t0001g0051 a0002c0006t0001g0052 a0002c0006t0001g0053 a0002c0006t0001g0054 a0002c0014t0003g0305 a0002c0016t0001g0334	35	338	0.1036	1	c.148 others(5): Show c.1488dupC	p.Thr others(5): Show p.Thr497fs	KCTD1	ENSG00000134504.14	transcript	ENST00000580059.7	protein_coding	1/5	1505/3448	1488/2598	496/865			chr18	TogoVar
KDM4A_chr1_43645149_43710518	43660291	CA CA	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(188): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01981.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18947.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18966.hp2 NA18971.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18991.hp2 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19058.hp1 NA19064.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19075.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(169): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0002g0019 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0284 a0001c0001t0003g0242 a0001c0001t0003g0288 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0317 a0001c0001t0003g0319 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0105 a0001c0001t0007g0276 a0001c0003t0001g0287 a0001c0003t0001g0314 a0001c0003t0001g0315 a0001c0003t0001g0328 a0001c0005t0001g0024 a0001c0005t0001g0025 a0001c0005t0001g0026 a0001c0005t0001g0027 a0001c0005t0001g0033 a0001c0005t0001g0034 a0001c0010t0001g0022 a0003c0004t0001g0263 a0003c0004t0001g0265 a0003c0004t0001g0266 a0003c0004t0001g0267 a0003c0004t0001g0268 a0003c0004t0001g0270	191	370	0.5162	-1	c.315 others(6): Show c.315-2delA		KDM4A	ENSG00000066135.13	transcript	ENST00000372396.4	protein_coding	3/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
KIAA0513_chr16_85022795_85099218	85071765	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp1 HG00609.hp2 HG00621.hp2 others(108): Show HG00423.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG01109.hp2 HG01243.hp1 HG01346.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03927.hp2 HG03942.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA19001.hp2 NA19010.hp1 NA19010.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0010 a0001c0001 a0001c0005 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0057 a0001c0001t0063 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0095 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0113 a0001c0005t0019 a0001c0010t0001	a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 others(106): Show a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0062 a0001c0001t0001g0101 a0001c0001t0001g0177 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0006g0001 a0001c0001t0006g0040 a0001c0001t0006g0105 a0001c0001t0006g0132 a0001c0001t0006g0295 a0001c0001t0006g0296 a0001c0001t0006g0299 a0001c0001t0006g0303 a0001c0001t0006g0304 a0001c0001t0006g0319 a0001c0001t0011g0238 a0001c0001t0011g0259 a0001c0001t0012g0016 a0001c0001t0012g0324 a0001c0001t0012g0328 a0001c0001t0012g0329 a0001c0001t0013g0285 a0001c0001t0013g0302 a0001c0001t0013g0308 a0001c0001t0013g0315 a0001c0001t0020g0194 a0001c0001t0026g0233 a0001c0001t0028g0264 a0001c0001t0028g0273 a0001c0001t0029g0278 a0001c0001t0029g0314 a0001c0001t0032g0014 a0001c0001t0032g0256 a0001c0001t0033g0321 a0001c0001t0033g0322 a0001c0001t0042g0207 a0001c0001t0044g0023 a0001c0001t0044g0036 a0001c0001t0045g0099 a0001c0001t0045g0100 a0001c0001t0048g0248 a0001c0001t0049g0294 a0001c0001t0051g0312 a0001c0001t0052g0291 a0001c0001t0053g0001 a0001c0001t0055g0228 a0001c0001t0057g0229 a0001c0001t0063g0334 a0001c0001t0067g0042 a0001c0001t0068g0225 a0001c0001t0069g0297 a0001c0001t0071g0236 a0001c0001t0072g0254 a0001c0001t0073g0098 a0001c0001t0074g0318 a0001c0001t0075g0252 a0001c0001t0095g0262 a0001c0001t0105g0206 a0001c0001t0106g0016 a0001c0001t0107g0208 a0001c0001t0113g0025 a0001c0005t0019g0095 a0001c0010t0001g0219	111	390	0.2846	1	c.330 others(6): Show c.330-3dupT		KIAA0513	ENSG00000135709.14	transcript	ENST00000683363.1	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
KIF25_chr6_167992671_168050091	168029510	C C	CTGACATG others(69): Show CTGACATGGACCTCAGGTCAGCTTCAGCGTGAGAAGCAGGCCAGGCCTGG GTCTGGAGCCGTCCTGGCCTTCCCAGA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.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 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018	a0001c0001 a0001c0003 a0001c0006 others(20): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010 a0001c0019 a0001c0022 a0002c0002 a0002c0015 a0003c0004 a0004c0005 a0005c0007 a0005c0024 a0006c0008 a0008c0011 a0009c0012 a0010c0013 a0012c0014 a0013c0016 a0014c0017 a0015c0025 a0016c0023 a0017c0020 a0018c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0032 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0003t0004 a0001c0003t0009 a0001c0003t0011 a0001c0003t0015 a0001c0003t0026 a0001c0003t0029 a0001c0003t0037 a0001c0003t0051 a0001c0006t0002 a0001c0006t0005 a0001c0006t0019 a0001c0010t0023 a0001c0019t0018 a0001c0022t0010 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0011 a0002c0002t0013 a0002c0002t0022 a0002c0002t0030 a0002c0002t0040 a0002c0002t0046 a0002c0002t0052 a0002c0002t0053 a0002c0015t0003 a0003c0004t0001 a0003c0004t0005 a0003c0004t0010 a0003c0004t0021 a0003c0004t0044 a0003c0004t0047 a0004c0005t0004 a0004c0005t0015 a0005c0007t0010 a0005c0007t0020 a0005c0024t0002 a0006c0008t0016 a0008c0011t0001 a0008c0011t0005 a0009c0012t0001 a0009c0012t0010 a0010c0013t0016 a0010c0013t0018 a0012c0014t0010 a0013c0016t0003 a0014c0017t0002 a0015c0025t0001 a0016c0023t0005 a0017c0020t0001 a0018c0021t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(323): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0328 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0021 a0001c0001t0006g0022 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0148 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0006g0152 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0006g0161 a0001c0001t0008g0274 a0001c0001t0008g0275 a0001c0001t0008g0276 a0001c0001t0008g0277 a0001c0001t0008g0278 a0001c0001t0008g0279 a0001c0001t0008g0280 a0001c0001t0008g0281 a0001c0001t0008g0282 a0001c0001t0008g0286 a0001c0001t0009g0051 a0001c0001t0009g0058 a0001c0001t0009g0109 a0001c0001t0009g0128 a0001c0001t0009g0130 a0001c0001t0009g0131 a0001c0001t0009g0132 a0001c0001t0009g0133 a0001c0001t0010g0256 a0001c0001t0011g0126 a0001c0001t0011g0127 a0001c0001t0012g0142 a0001c0001t0012g0143 a0001c0001t0012g0156 a0001c0001t0012g0159 a0001c0001t0012g0160 a0001c0001t0013g0236 a0001c0001t0018g0272 a0001c0001t0021g0034 a0001c0001t0021g0105 a0001c0001t0024g0283 a0001c0001t0024g0284 a0001c0001t0032g0294 a0001c0001t0038g0362 a0001c0001t0039g0147 a0001c0001t0041g0206 a0001c0001t0042g0260 a0001c0003t0004g0016 a0001c0003t0004g0032 a0001c0003t0004g0042 a0001c0003t0004g0043 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0046 a0001c0003t0004g0047 a0001c0003t0004g0048 a0001c0003t0004g0049 a0001c0003t0004g0050 a0001c0003t0004g0052 a0001c0003t0004g0053 a0001c0003t0004g0054 a0001c0003t0004g0055 a0001c0003t0004g0057 a0001c0003t0004g0059 a0001c0003t0004g0060 a0001c0003t0004g0061 a0001c0003t0004g0062 a0001c0003t0004g0064 a0001c0003t0004g0065 a0001c0003t0004g0068 a0001c0003t0004g0069 a0001c0003t0004g0129 a0001c0003t0004g0364 a0001c0003t0004g0365 a0001c0003t0009g0063 a0001c0003t0011g0041 a0001c0003t0015g0287 a0001c0003t0015g0288 a0001c0003t0026g0182 a0001c0003t0026g0233 a0001c0003t0029g0333 a0001c0003t0029g0354 a0001c0003t0037g0180 a0001c0003t0051g0092 a0001c0006t0002g0262 a0001c0006t0005g0355 a0001c0006t0005g0356 a0001c0006t0019g0139 a0001c0006t0019g0140 a0001c0006t0019g0141 a0001c0010t0023g0329 a0001c0010t0023g0353 a0001c0019t0018g0271 a0001c0022t0010g0257 a0002c0002t0001g0231 a0002c0002t0001g0239 a0002c0002t0003g0010 a0002c0002t0003g0023 a0002c0002t0003g0029 a0002c0002t0003g0031 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0071 a0002c0002t0003g0072 a0002c0002t0003g0073 a0002c0002t0003g0074 a0002c0002t0003g0075 a0002c0002t0003g0076 a0002c0002t0003g0079 a0002c0002t0003g0081 a0002c0002t0003g0084 a0002c0002t0003g0086 a0002c0002t0003g0094 a0002c0002t0003g0095 a0002c0002t0003g0096 a0002c0002t0003g0097 a0002c0002t0003g0098 a0002c0002t0003g0099 a0002c0002t0003g0102 a0002c0002t0003g0104 a0002c0002t0003g0134 a0002c0002t0003g0137 a0002c0002t0003g0162 a0002c0002t0003g0319 a0002c0002t0003g0326 a0002c0002t0003g0327 a0002c0002t0005g0341 a0002c0002t0005g0351 a0002c0002t0005g0352 a0002c0002t0011g0066 a0002c0002t0011g0124 a0002c0002t0011g0125 a0002c0002t0013g0237 a0002c0002t0013g0247 a0002c0002t0013g0248 a0002c0002t0013g0249 a0002c0002t0022g0100 a0002c0002t0022g0101 a0002c0002t0030g0080 a0002c0002t0030g0083 a0002c0002t0040g0082 a0002c0002t0046g0338 a0002c0002t0052g0035 a0002c0002t0053g0030 a0002c0015t0003g0135 a0003c0004t0001g0183 a0003c0004t0001g0197 a0003c0004t0001g0218 a0003c0004t0001g0219 a0003c0004t0001g0220 a0003c0004t0001g0221 a0003c0004t0001g0222 a0003c0004t0001g0223 a0003c0004t0005g0009 a0003c0004t0005g0017 a0003c0004t0005g0330 a0003c0004t0005g0331 a0003c0004t0005g0332 a0003c0004t0005g0335 a0003c0004t0005g0336 a0003c0004t0005g0337 a0003c0004t0005g0339 a0003c0004t0005g0340 a0003c0004t0005g0342 a0003c0004t0005g0343 a0003c0004t0005g0345 a0003c0004t0005g0346 a0003c0004t0005g0347 a0003c0004t0005g0348 a0003c0004t0005g0349 a0003c0004t0005g0350 a0003c0004t0005g0357 a0003c0004t0005g0359 a0003c0004t0005g0360 a0003c0004t0010g0018 a0003c0004t0021g0103 a0003c0004t0044g0334 a0003c0004t0047g0358 a0004c0005t0004g0001 a0004c0005t0004g0121 a0004c0005t0004g0122 a0004c0005t0004g0123 a0004c0005t0004g0138 a0004c0005t0015g0163 a0004c0005t0015g0164 a0005c0007t0010g0019 a0005c0007t0020g0024 a0005c0007t0020g0025 a0005c0007t0020g0027 a0005c0024t0002g0261 a0006c0008t0016g0167 a0006c0008t0016g0169 a0006c0008t0016g0170 a0008c0011t0001g0185 a0008c0011t0005g0363 a0009c0012t0001g0250 a0009c0012t0010g0258 a0010c0013t0016g0168 a0010c0013t0018g0273 a0012c0014t0010g0255 a0013c0016t0003g0093 a0014c0017t0002g0315 a0015c0025t0001g0229 a0016c0023t0005g0344 a0017c0020t0001g0240 a0018c0021t0001g0200	335	375	0.8933	76	c.7_8 others(80): Show c.7_82dupTGGACCTCAGGTCAGCTTCAGCGTGAGAAGCAGGCCAGGCC TGGGTCTGGAGCCGTCCTGGCCTTCCCAGATGACA	p.Lys others(4): Show p.Lys28fs	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	6/13	1881/3048	83/1155	28/384		INFO_REALIGN_3_PRIME	chr6	TogoVar
KLHL24_chr3_183630623_183689519	183635795	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01069.hp2 HG01071.hp2 HG01175.hp2 others(23): Show HG01069.hp2 HG01071.hp2 HG01175.hp2 HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02818.hp1 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18906.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0001t0021 a0001c0001t0035 others(6): Show a0001c0001t0009 a0001c0001t0021 a0001c0001t0035 a0001c0001t0039 a0001c0001t0041 a0001c0003t0007 a0001c0003t0009 a0001c0003t0040 a0001c0003t0042	a0001c0001t0009g0039 a0001c0001t0009g0040 a0001c0001t0009g0041 others(22): Show a0001c0001t0009g0039 a0001c0001t0009g0040 a0001c0001t0009g0041 a0001c0001t0021g0006 a0001c0001t0035g0042 a0001c0001t0039g0022 a0001c0001t0041g0043 a0001c0003t0007g0005 a0001c0003t0007g0023 a0001c0003t0007g0024 a0001c0003t0007g0026 a0001c0003t0007g0028 a0001c0003t0007g0029 a0001c0003t0007g0030 a0001c0003t0007g0031 a0001c0003t0007g0032 a0001c0003t0007g0036 a0001c0003t0007g0038 a0001c0003t0009g0005 a0001c0003t0009g0025 a0001c0003t0009g0027 a0001c0003t0009g0033 a0001c0003t0009g0035 a0001c0003t0040g0037 a0001c0003t0042g0034	26	312	0.0833	0	c.-12 others(6): Show c.-125+2T>C		KLHL24	ENSG00000114796.16	transcript	ENST00000242810.11	protein_coding	1/7						chr3	TogoVar
KLK12_chr19_51024094_51040002	51031874	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(248): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0003 a0001c0001 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0007t0001 a0002c0003t0003 a0002c0003t0006	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0153 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0007t0001g0070 a0002c0003t0003g0105 a0002c0003t0003g0106 a0002c0003t0003g0107 a0002c0003t0003g0108 a0002c0003t0003g0109 a0002c0003t0006g0155	251	448	0.5603	0	c.457 others(5): Show c.457+2T>C		KLK12	ENSG00000186474.16	transcript	ENST00000684732.1	protein_coding	4/5						chr19	TogoVar
KPRP_chr1_152753025_152767056	152761321	A A	AT AT	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG02615.hp2 HG02622.hp1 HG02896.hp1 others(3): Show HG02615.hp2 HG02622.hp1 HG02896.hp1 HG02897.hp2 HG03139.hp1 HG06807.hp1	a0000 a0000	a0000c0008 a0000c0008	a0000c0008t0002 a0000c0008t0002	a0000c0008t0002g0001 a0000c0008t0002g0001	6	428	0.0140	1	c.173 others(5): Show c.1738dupT	p.Ter others(5): Show p.Ter580fs	KPRP	ENSG00000203786.7	transcript	ENST00000606109.2	protein_coding	2/2	1802/2531	1739/1740	580/579		INFO_REALIGN_3_PRIME	chr1	TogoVar

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