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 (≤).

Sort By

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	status	chr	external
SHROOM2_chrX_9781429_9954443	9896090	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0018 a0018	a0018c0074 a0018c0074	a0018c0074t0003 a0018c0074t0003	a0018c0074t0003g0187 a0018c0074t0003g0187	1	256	0.0039	-1	c.218 others(5): Show c.2185delG	p.Glu others(5): Show p.Glu729fs	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	4/10	2302/7474	2185/4851	729/1616	INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9896406	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0018 a0018	a0018c0074 a0018c0074	a0018c0074t0003 a0018c0074t0003	a0018c0074t0003g0187 a0018c0074t0003g0187	1	256	0.0039	1	c.250 others(5): Show c.2500dupC	p.Arg others(5): Show p.Arg834fs	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	4/10	2618/7474	2501/4851	834/1616	INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9896660	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0018 a0018	a0018c0074 a0018c0074	a0018c0074t0003 a0018c0074t0003	a0018c0074t0003g0187 a0018c0074t0003g0187	1	256	0.0039	1	c.275 others(5): Show c.2754dupG	p.Ser others(5): Show p.Ser919fs	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	4/10	2872/7474	2755/4851	919/1616	INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGLEC12_chr19_51486227_51506800	51501537	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18956.hp1 NA18961.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19001.hp2 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19059.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19076.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0008 a0019 a0020	a0001c0002 a0001c0003 a0001c0010 others(23): Show a0001c0002 a0001c0003 a0001c0010 a0001c0012 a0001c0014 a0001c0019 a0001c0020 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0003c0016 a0003c0017 a0003c0025 a0003c0048 a0003c0052 a0005c0005 a0005c0029 a0005c0030 a0008c0018 a0019c0031 a0020c0040	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(27): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0003t0001 a0001c0003t0003 a0001c0010t0002 a0001c0012t0002 a0001c0014t0003 a0001c0019t0003 a0001c0020t0001 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0001 a0001c0039t0001 a0003c0016t0001 a0003c0016t0005 a0003c0017t0006 a0003c0025t0005 a0003c0048t0001 a0003c0052t0002 a0005c0005t0001 a0005c0029t0001 a0005c0030t0003 a0008c0018t0001 a0019c0031t0001 a0020c0040t0001	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0012 others(92): Show a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0012 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0002t0003g0062 a0001c0002t0003g0104 a0001c0002t0003g0105 a0001c0002t0005g0032 a0001c0002t0005g0095 a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0011 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0027 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0066 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0083 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0112 a0001c0003t0003g0074 a0001c0003t0003g0075 a0001c0010t0002g0010 a0001c0012t0002g0028 a0001c0012t0002g0069 a0001c0012t0002g0084 a0001c0014t0003g0024 a0001c0019t0003g0035 a0001c0020t0001g0036 a0001c0032t0001g0064 a0001c0033t0001g0065 a0001c0034t0001g0111 a0001c0035t0001g0068 a0001c0036t0001g0070 a0001c0037t0001g0093 a0001c0038t0001g0108 a0001c0039t0001g0109 a0003c0016t0001g0169 a0003c0016t0005g0049 a0003c0017t0006g0048 a0003c0017t0006g0168 a0003c0025t0005g0050 a0003c0048t0001g0151 a0003c0052t0002g0170 a0005c0005t0001g0017 a0005c0005t0001g0020 a0005c0005t0001g0026 a0005c0005t0001g0056 a0005c0005t0001g0057 a0005c0005t0001g0058 a0005c0005t0001g0059 a0005c0029t0001g0054 a0005c0030t0003g0055 a0008c0018t0001g0052 a0008c0018t0001g0053 a0019c0031t0001g0060 a0020c0040t0001g0113	229	432	0.5301	1	c.196 others(4): Show c.196dupG	p.Ala others(4): Show p.Ala66fs	SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding	1/8	263/2269	196/1788	66/595		chr19	TogoVar
SLC22A14_chr3_38277294_38323575	38307252	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00609.hp1 HG00621.hp1 HG00735.hp2 others(42): Show HG00609.hp1 HG00621.hp1 HG00735.hp2 HG01175.hp2 HG01928.hp2 HG01952.hp1 HG01993.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02135.hp1 HG02523.hp1 HG03834.hp1 NA18747.hp2 NA18941.hp2 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18955.hp2 NA18960.hp1 NA18965.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18980.hp1 NA18982.hp2 NA18985.hp2 NA18991.hp2 NA18992.hp1 NA18998.hp2 NA19002.hp1 NA19007.hp2 NA19011.hp2 NA19055.hp2 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0030	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0030c0037	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0002 a0030c0037t0002	a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0199 others(35): Show a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0199 a0001c0001t0001g0222 a0001c0001t0001g0235 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0022 a0001c0001t0002g0159 a0001c0001t0002g0177 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0228 a0001c0001t0002g0233 a0001c0001t0002g0241 a0001c0001t0002g0261 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0212 a0002c0002t0001g0234 a0003c0003t0002g0161 a0003c0003t0002g0203 a0003c0003t0002g0215 a0003c0003t0002g0216 a0003c0003t0002g0217 a0003c0003t0002g0218 a0003c0003t0002g0219 a0030c0037t0002g0200	45	406	0.1108	0	c.517 others(5): Show c.517-2A>C		SLC22A14	ENSG00000144671.11	transcript	ENST00000448498.6	protein_coding	2/10					chr3	TogoVar
SLC22A24_chr11_63074940_63149221	63081015	A A	C C	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0006 a0007 a0008 a0010 a0011 a0012 a0014 a0015	a0001c0001 a0001c0017 a0002c0002 others(14): Show a0001c0001 a0001c0017 a0002c0002 a0002c0008 a0002c0024 a0002c0025 a0004c0004 a0006c0006 a0007c0007 a0007c0018 a0008c0011 a0008c0023 a0010c0010 a0011c0013 a0012c0014 a0014c0016 a0015c0022	a0001c0001t0001 a0001c0017t0001 a0002c0002t0001 others(16): Show a0001c0001t0001 a0001c0017t0001 a0002c0002t0001 a0002c0008t0001 a0002c0024t0001 a0002c0025t0001 a0004c0004t0001 a0006c0006t0001 a0007c0007t0002 a0007c0007t0004 a0007c0018t0002 a0008c0011t0001 a0008c0023t0001 a0010c0010t0001 a0010c0010t0006 a0011c0013t0001 a0012c0014t0001 a0014c0016t0001 a0015c0022t0001	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 others(263): Show a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0247 a0001c0001t0001g0255 a0001c0001t0001g0273 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0319 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0001g0349 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0017t0001g0089 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0111 a0002c0002t0001g0118 a0002c0002t0001g0125 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0147 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0231 a0002c0002t0001g0235 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0270 a0002c0002t0001g0284 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0305 a0002c0002t0001g0312 a0002c0002t0001g0337 a0002c0002t0001g0346 a0002c0002t0001g0348 a0002c0002t0001g0357 a0002c0002t0001g0358 a0002c0008t0001g0262 a0002c0008t0001g0280 a0002c0008t0001g0281 a0002c0008t0001g0282 a0002c0008t0001g0283 a0002c0008t0001g0313 a0002c0008t0001g0314 a0002c0008t0001g0320 a0002c0008t0001g0328 a0002c0024t0001g0139 a0002c0025t0001g0153 a0004c0004t0001g0004 a0004c0004t0001g0095 a0004c0004t0001g0110 a0004c0004t0001g0124 a0004c0004t0001g0140 a0004c0004t0001g0152 a0004c0004t0001g0179 a0004c0004t0001g0227 a0004c0004t0001g0228 a0004c0004t0001g0229 a0004c0004t0001g0230 a0004c0004t0001g0232 a0004c0004t0001g0233 a0004c0004t0001g0234 a0004c0004t0001g0236 a0004c0004t0001g0237 a0004c0004t0001g0238 a0004c0004t0001g0239 a0004c0004t0001g0240 a0004c0004t0001g0241 a0004c0004t0001g0242 a0004c0004t0001g0243 a0004c0004t0001g0244 a0004c0004t0001g0245 a0004c0004t0001g0246 a0004c0004t0001g0271 a0004c0004t0001g0272 a0004c0004t0001g0306 a0004c0004t0001g0307 a0004c0004t0001g0308 a0004c0004t0001g0309 a0004c0004t0001g0310 a0004c0004t0001g0315 a0006c0006t0001g0269 a0006c0006t0001g0311 a0006c0006t0001g0316 a0006c0006t0001g0317 a0006c0006t0001g0321 a0006c0006t0001g0322 a0006c0006t0001g0323 a0006c0006t0001g0324 a0006c0006t0001g0325 a0006c0006t0001g0326 a0006c0006t0001g0327 a0006c0006t0001g0329 a0006c0006t0001g0330 a0006c0006t0001g0331 a0006c0006t0001g0332 a0006c0006t0001g0333 a0006c0006t0001g0334 a0006c0006t0001g0335 a0006c0006t0001g0336 a0006c0006t0001g0338 a0007c0007t0002g0064 a0007c0007t0002g0065 a0007c0007t0002g0066 a0007c0007t0002g0069 a0007c0007t0002g0073 a0007c0007t0002g0074 a0007c0007t0002g0075 a0007c0007t0002g0076 a0007c0007t0002g0077 a0007c0007t0002g0078 a0007c0007t0002g0079 a0007c0007t0002g0080 a0007c0007t0002g0081 a0007c0007t0002g0082 a0007c0007t0004g0003 a0007c0007t0004g0085 a0007c0018t0002g0023 a0008c0011t0001g0131 a0008c0011t0001g0274 a0008c0011t0001g0275 a0008c0011t0001g0276 a0008c0011t0001g0277 a0008c0011t0001g0279 a0008c0023t0001g0278 a0010c0010t0001g0090 a0010c0010t0001g0091 a0010c0010t0001g0092 a0010c0010t0001g0093 a0010c0010t0001g0094 a0010c0010t0006g0362 a0011c0013t0001g0340 a0011c0013t0001g0341 a0011c0013t0001g0342 a0011c0013t0001g0343 a0012c0014t0001g0087 a0012c0014t0001g0088 a0014c0016t0001g0086 a0015c0022t0001g0318	268	366	0.7322	0	c.150 others(4): Show c.1503T>G	p.Tyr others(4): Show p.Tyr501*	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	9/10	1945/2101	1503/1659	501/552		chr11	TogoVar
SLC22A31_chr16_89190761_89205537	89196258	GCCTGGCC others(74): Show GCCTGGCCCAGGAACCCGGCCCCCAGCACCAGGCCCAGCCCGGCCCCCCT GTGGGACAGAGTGTGTTGGGGGCAGCCAGCCT	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(170): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp2 NA18522.hp1 NA18522.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0005 a0006 others(4): Show a0002 a0005 a0006 a0010 a0011 a0013 a0018	a0002c0002 a0002c0004 a0002c0007 others(9): Show a0002c0002 a0002c0004 a0002c0007 a0002c0017 a0002c0021 a0005c0008 a0006c0011 a0006c0023 a0010c0016 a0011c0019 a0013c0020 a0018c0024	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 others(10): Show a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0007t0001 a0002c0017t0001 a0002c0021t0001 a0005c0008t0001 a0006c0011t0001 a0006c0023t0001 a0010c0016t0001 a0011c0019t0001 a0013c0020t0001 a0018c0024t0001	a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0014 others(30): Show a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0014 a0002c0002t0001g0022 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0002g0039 a0002c0004t0001g0005 a0002c0004t0001g0012 a0002c0004t0001g0027 a0002c0004t0001g0032 a0002c0004t0001g0066 a0002c0004t0001g0067 a0002c0004t0001g0070 a0002c0004t0001g0072 a0002c0007t0001g0007 a0002c0007t0001g0071 a0002c0017t0001g0069 a0002c0021t0001g0038 a0005c0008t0001g0009 a0005c0008t0001g0019 a0005c0008t0001g0059 a0006c0011t0001g0030 a0006c0011t0001g0063 a0006c0023t0001g0064 a0010c0016t0001g0031 a0011c0019t0001g0073 a0013c0020t0001g0037 a0018c0024t0001g0074	173	428	0.4042	-81	c.103 others(93): Show c.1035-34_1081delAGGCTGGCTGCCCCCAACACACTCTGTCCCACA GGGGGGCCGGGCTGGGCCTGGTGCTGGGGGCCGGGTTCCTGGGCCAGG	p.Arg others(5): Show p.Arg345fs	SLC22A31	ENSG00000259803.8	transcript	ENST00000682282.1	protein_coding	9/9	1117/1615	1035/1341	345/446		chr16	TogoVar
SLC27A1_chr19_17465524_17511168	17497378	TTCACGGA others(4): Show TTCACGGAGCGC	T T	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0057 a0004c0007t0001g0057	1	350	0.0029	-11	c.112 others(20): Show c.1122_1132delCACGGAGCGCT	p.Thr others(5): Show p.Thr375fs	SLC27A1	ENSG00000130304.17	transcript	ENST00000252595.12	protein_coding	7/12	1139/3514	1122/1941	374/646	INFO_REALIGN_3_PRIME	chr19	TogoVar
SMAD5_chr5_136127845_136187733	136147819	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(137): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG06807.hp2 NA18522.hp2 NA18939.hp2 NA18941.hp2 NA18945.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18981.hp1 NA18984.hp2 NA18994.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19030.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 others(108): Show a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0003g0003 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0036 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0076 a0001c0001t0003g0138 a0001c0001t0005g0028 a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0006g0010 a0001c0001t0006g0103 a0001c0001t0006g0106 a0001c0001t0006g0116 a0001c0001t0006g0119 a0001c0001t0006g0120 a0001c0001t0007g0001 a0001c0001t0007g0070 a0001c0001t0010g0158 a0001c0001t0011g0024 a0001c0001t0011g0125 a0001c0001t0013g0067 a0001c0001t0013g0072 a0001c0001t0013g0078 a0001c0001t0014g0071 a0001c0001t0014g0136 a0001c0001t0014g0137 a0001c0001t0015g0021 a0001c0001t0015g0079 a0001c0001t0016g0080 a0001c0001t0016g0081 a0001c0001t0017g0073 a0001c0001t0017g0075 a0001c0001t0018g0013 a0001c0001t0020g0123 a0001c0001t0026g0007 a0001c0001t0027g0122 a0001c0001t0028g0066 a0001c0001t0029g0065 a0001c0001t0030g0001 a0001c0001t0031g0108 a0001c0001t0032g0074	140	294	0.4762	1	c.-24 others(7): Show c.-244-3dupT		SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding	1/7				INFO_REALIGN_3_PRIME	chr5	TogoVar
SOX8_chr16_976770_991979	985156	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01261.hp1 HG02056.hp2 NA18956.hp1 others(6): Show HG01261.hp1 HG02056.hp2 NA18956.hp1 NA18956.hp2 NA18965.hp2 NA18978.hp2 NA18984.hp2 NA19072.hp2 NA19075.hp1	a0000 a0002 a0000 a0002	a0000c0006 a0000c0007 a0002c0018 others(2): Show a0000c0006 a0000c0007 a0002c0018 a0002c0021 a0002c0022	a0000c0006t0001 a0000c0007t0002 a0000c0007t0009 others(3): Show a0000c0006t0001 a0000c0007t0002 a0000c0007t0009 a0002c0018t0004 a0002c0021t0001 a0002c0022t0002	a0000c0006t0001g0001 a0000c0007t0002g0002 a0000c0007t0009g0002 others(3): Show a0000c0006t0001g0001 a0000c0007t0002g0002 a0000c0007t0009g0002 a0002c0018t0004g0001 a0002c0021t0001g0001 a0002c0022t0002g0002	9	434	0.0207	1	c.111 others(5): Show c.1116dupC	p.Ala others(5): Show p.Ala373fs	SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding	3/3	1270/3087	1117/1341	373/446	INFO_REALIGN_3_PRIME	chr16	TogoVar
SPANXA2_chrX_141584708_141595762	141589789	GGC GGC	G G	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0006 a0006c0006t0006	a0006c0006t0006g0016 a0006c0006t0006g0016	1	185	0.0054	-2	c.24_ others(7): Show c.24_25delCG	p.Val others(4): Show p.Val10fs	SPANXA2	ENSG00000203926.5	transcript	ENST00000370518.4	protein_coding	1/2	84/408	24/294	8/97	INFO_REALIGN_3_PRIME	chrX	TogoVar
SPANXA2_chrX_141584708_141595762	141590591	TA TA	T T	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0006 a0006c0006t0006	a0006c0006t0006g0016 a0006c0006t0006g0016	1	185	0.0054	-1	c.181 others(4): Show c.181delA	p.Arg others(4): Show p.Arg61fs	SPANXA2	ENSG00000203926.5	transcript	ENST00000370518.4	protein_coding	2/2	241/408	181/294	61/97	INFO_REALIGN_3_PRIME	chrX	TogoVar
SPATA22_chr17_3435019_3476819	3471678	GCA GCA	G G	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	HG00140.hp2 HG00733.hp1 HG01358.hp1 others(46): Show HG00140.hp2 HG00733.hp1 HG01358.hp1 HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03831.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18954.hp1 NA18965.hp2 NA18967.hp2 NA18969.hp2 NA18981.hp2 NA18988.hp2 NA18990.hp2 NA19002.hp2 NA19087.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0002c0002 a0005c0012 others(1): Show a0001c0001 a0002c0002 a0005c0012 a0006c0010	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0005c0012t0002 a0006c0010t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 others(39): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0002c0002t0001g0019 a0002c0002t0001g0056 a0002c0002t0002g0049 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0005c0012t0002g0281 a0006c0010t0001g0082	49	420	0.1167	-2	c.-74 others(13): Show c.-74+2_-74+3delTG		SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	1/8					chr17	TogoVar
SPATA45_chr1_212825141_212852649	212836041	G G	A A	stop_gained stop_gained	HIGH	HG00423.hp1 HG00673.hp1 HG02015.hp2 others(14): Show HG00423.hp1 HG00673.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02129.hp1 HG02132.hp2 NA18612.hp1 NA18946.hp1 NA18960.hp2 NA18965.hp2 NA18971.hp1 NA18984.hp1 NA19058.hp1 NA19066.hp2 NA19087.hp1 NA19090.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0005 a0003c0003t0001g0031 a0003c0003t0001g0185 others(4): Show a0003c0003t0001g0005 a0003c0003t0001g0031 a0003c0003t0001g0185 a0003c0003t0001g0187 a0003c0003t0001g0189 a0003c0003t0001g0190 a0003c0003t0001g0215	17	402	0.0423	0	c.109 others(3): Show c.109C>T	p.Arg others(3): Show p.Arg37*	SPATA45	ENSG00000185523.6	transcript	ENST00000332912.3	protein_coding	2/3	217/506	109/297	37/98		chr1	TogoVar
SPDYE2_chr7_102546226_102568538	102551289	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00609.hp2 HG01070.hp1 HG01515.hp2 others(24): Show HG00609.hp2 HG01070.hp1 HG01515.hp2 HG01928.hp2 HG02056.hp1 HG02602.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03225.hp2 HG03654.hp1 HG03654.hp2 HG03942.hp2 HG04204.hp2 NA18945.hp2 NA18948.hp2 NA18965.hp2 NA18966.hp2 NA18972.hp1 NA18985.hp2 NA19030.hp1 NA19062.hp2 NA19064.hp2 NA19068.hp1 NA19079.hp2 NA19082.hp2 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0011 a0015 a0020 a0021 a0022	a0001c0001 a0002c0002 a0003c0003 others(7): Show a0001c0001 a0002c0002 a0003c0003 a0005c0004 a0006c0010 a0011c0015 a0015c0021 a0020c0029 a0021c0030 a0022c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0002c0002t0003 a0003c0003t0002 a0003c0003t0003 a0005c0004t0004 a0006c0010t0001 a0006c0010t0025 a0011c0015t0004 a0015c0021t0003 a0020c0029t0002 a0021c0030t0003 a0022c0031t0004	a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(24): Show a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0002g0022 a0001c0001t0002g0039 a0001c0001t0015g0023 a0002c0002t0003g0030 a0002c0002t0003g0031 a0002c0002t0003g0032 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0002g0043 a0003c0003t0003g0024 a0003c0003t0003g0025 a0005c0004t0004g0026 a0005c0004t0004g0036 a0006c0010t0001g0034 a0006c0010t0001g0035 a0006c0010t0025g0033 a0011c0015t0004g0018 a0011c0015t0004g0019 a0015c0021t0003g0037 a0020c0029t0002g0044 a0021c0030t0003g0029 a0022c0031t0004g0020	27	164	0.1646	0	c.-42 others(6): Show c.-422+1G>C		SPDYE2	ENSG00000205238.12	transcript	ENST00000691607.2	protein_coding	1/8					chr7	TogoVar
SPEF2_chr5_35612863_35819611	35667243	C C	T T	stop_gained stop_gained	HIGH	NA18965.hp2 NA18965.hp2	a0020 a0020	a0020c0052 a0020c0052	a0020c0052t0001 a0020c0052t0001	a0020c0052t0001g0230 a0020c0052t0001g0230	1	268	0.0037	0	c.133 others(4): Show c.1339C>T	p.Arg others(4): Show p.Arg447*	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	9/37	1474/5662	1339/5469	447/1822		chr5	TogoVar
SWI5_chr9_128271276_128293989	128276342	T T	A A	start_lost start_lost	HIGH	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0236 a0001c0003t0001g0236	1	386	0.0026	0	c.2T> others(1): Show c.2T>A	p.Leu others(2): Show p.Leu1?	SWI5	ENSG00000175854.15	transcript	ENST00000418976.3	protein_coding	1/5	67/731	2/393	1/130		chr9	TogoVar
SWI5_chr9_128271276_128293989	128276403	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0236 a0001c0003t0001g0236	1	386	0.0026	0	c.62+ others(4): Show c.62+1G>T		SWI5	ENSG00000175854.15	transcript	ENST00000418976.3	protein_coding	1/4					chr9	TogoVar
SWI5_chr9_128271276_128293989	128276404	T T	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0236 a0001c0003t0001g0236	1	386	0.0026	0	c.62+ others(4): Show c.62+2T>G		SWI5	ENSG00000175854.15	transcript	ENST00000418976.3	protein_coding	1/4					chr9	TogoVar
TBC1D19_chr4_26579084_26761223	26735441	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 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 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 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.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.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 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0002c0007 a0003c0008 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0002t0002 a0001c0002t0010 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0006t0005 a0001c0010t0001 a0002c0007t0001 a0003c0008t0006 a0004c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(270): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0204 a0001c0001t0002g0020 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0037 a0001c0001t0004g0039 a0001c0001t0007g0030 a0001c0001t0007g0031 a0001c0001t0008g0149 a0001c0001t0008g0209 a0001c0002t0002g0001 a0001c0002t0002g0153 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0010g0264 a0001c0003t0001g0012 a0001c0003t0001g0025 a0001c0003t0001g0027 a0001c0003t0001g0044 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0081 a0001c0003t0001g0098 a0001c0005t0001g0092 a0001c0005t0001g0100 a0001c0005t0001g0101 a0001c0005t0001g0102 a0001c0005t0001g0103 a0001c0005t0001g0104 a0001c0005t0001g0190 a0001c0006t0001g0211 a0001c0006t0005g0148 a0001c0006t0005g0207 a0001c0006t0005g0210 a0001c0010t0001g0035 a0002c0007t0001g0164 a0002c0007t0001g0165 a0002c0007t0001g0166 a0002c0007t0001g0167 a0003c0008t0006g0138 a0003c0008t0006g0139 a0004c0009t0001g0106	274	310	0.8839	1	c.108 others(7): Show c.1085-3dupT		TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	15/20				INFO_REALIGN_3_PRIME	chr4	TogoVar
TBCD_chr17_82747065_82950914	82797739	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(115): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02559.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03239.hp2 HG03491.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp2 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19063.hp1 NA19065.hp2 NA19070.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19240.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0006 others(9): Show a0001 a0002 a0006 a0007 a0009 a0012 a0014 a0015 a0017 a0018 a0019 a0021	a0001c0001 a0001c0002 a0001c0014 others(17): Show a0001c0001 a0001c0002 a0001c0014 a0001c0015 a0002c0003 a0002c0006 a0002c0007 a0002c0011 a0002c0025 a0002c0040 a0006c0016 a0007c0048 a0009c0034 a0012c0020 a0014c0021 a0015c0022 a0017c0036 a0018c0039 a0019c0038 a0021c0046	a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 others(31): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 a0001c0001t0028 a0001c0002t0001 a0001c0002t0009 a0001c0002t0017 a0001c0002t0029 a0001c0002t0030 a0001c0002t0040 a0001c0014t0001 a0001c0015t0001 a0002c0003t0003 a0002c0003t0015 a0002c0003t0018 a0002c0003t0039 a0002c0006t0003 a0002c0006t0005 a0002c0006t0009 a0002c0006t0021 a0002c0007t0004 a0002c0011t0003 a0002c0025t0002 a0002c0040t0003 a0006c0016t0001 a0007c0048t0017 a0009c0034t0001 a0012c0020t0003 a0014c0021t0009 a0015c0022t0005 a0017c0036t0003 a0018c0039t0010 a0019c0038t0005 a0021c0046t0011	a0001c0001t0002g0223 a0001c0001t0002g0271 a0001c0001t0002g0301 others(115): Show a0001c0001t0002g0223 a0001c0001t0002g0271 a0001c0001t0002g0301 a0001c0001t0002g0304 a0001c0001t0002g0309 a0001c0001t0002g0317 a0001c0001t0003g0096 a0001c0001t0026g0287 a0001c0001t0028g0213 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0252 a0001c0002t0001g0255 a0001c0002t0001g0260 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0286 a0001c0002t0009g0279 a0001c0002t0017g0259 a0001c0002t0017g0261 a0001c0002t0029g0256 a0001c0002t0030g0244 a0001c0002t0040g0254 a0001c0014t0001g0273 a0001c0014t0001g0274 a0001c0014t0001g0290 a0001c0015t0001g0264 a0001c0015t0001g0289 a0001c0015t0001g0292 a0002c0003t0003g0006 a0002c0003t0003g0205 a0002c0003t0003g0208 a0002c0003t0003g0209 a0002c0003t0003g0210 a0002c0003t0003g0212 a0002c0003t0003g0216 a0002c0003t0003g0217 a0002c0003t0003g0218 a0002c0003t0003g0219 a0002c0003t0003g0220 a0002c0003t0003g0221 a0002c0003t0003g0222 a0002c0003t0003g0224 a0002c0003t0003g0225 a0002c0003t0003g0226 a0002c0003t0003g0227 a0002c0003t0003g0228 a0002c0003t0003g0229 a0002c0003t0003g0230 a0002c0003t0003g0231 a0002c0003t0003g0253 a0002c0003t0003g0258 a0002c0003t0003g0282 a0002c0003t0003g0285 a0002c0003t0003g0293 a0002c0003t0003g0297 a0002c0003t0003g0299 a0002c0003t0003g0300 a0002c0003t0003g0302 a0002c0003t0003g0306 a0002c0003t0003g0308 a0002c0003t0003g0310 a0002c0003t0003g0312 a0002c0003t0003g0314 a0002c0003t0003g0316 a0002c0003t0015g0294 a0002c0003t0015g0296 a0002c0003t0015g0303 a0002c0003t0015g0315 a0002c0003t0018g0202 a0002c0003t0018g0203 a0002c0003t0018g0204 a0002c0003t0039g0206 a0002c0006t0003g0313 a0002c0006t0005g0108 a0002c0006t0005g0112 a0002c0006t0005g0214 a0002c0006t0005g0215 a0002c0006t0005g0250 a0002c0006t0005g0283 a0002c0006t0005g0311 a0002c0006t0009g0251 a0002c0006t0009g0275 a0002c0006t0009g0276 a0002c0006t0009g0288 a0002c0006t0021g0139 a0002c0006t0021g0141 a0002c0007t0004g0278 a0002c0011t0003g0295 a0002c0025t0002g0131 a0002c0040t0003g0307 a0006c0016t0001g0257 a0006c0016t0001g0318 a0007c0048t0017g0174 a0009c0034t0001g0277 a0012c0020t0003g0207 a0014c0021t0009g0272 a0015c0022t0005g0284 a0017c0036t0003g0305 a0018c0039t0010g0080 a0019c0038t0005g0120 a0021c0046t0011g0233	118	318	0.3711	1	c.772 others(6): Show c.772-3dupT		TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38				INFO_REALIGN_3_PRIME	chr17	TogoVar
THRA_chr17_40057965_40098002	40088492	TGTCAACA others(42): Show TGTCAACAGGTACCTGCTGATTAGTCGGGAGGGCTCAGAAGCTTCCAGGG	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18965.hp2 NA18965.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0036 a0003c0005t0036	a0003c0005t0036g0097 a0003c0005t0036g0097	1	358	0.0028	-49	c.978 others(59): Show c.978_982+44delAACAGGTACCTGCTGATTAGTCGGGAGGGCTCAGA AGCTTCCAGGGGTC	p.Thr others(5): Show p.Thr327fs	THRA	ENSG00000126351.13	transcript	ENST00000450525.7	protein_coding	8/9	1403/5204	978/1233	326/410	INFO_REALIGN_3_PRIME	chr17	TogoVar
TIGD6_chr5_149988118_150005654	149995316	CT CT	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(190): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0009 others(5): Show a0001 a0004 a0009 a0010 a0012 a0013 a0014 a0015	a0001c0001 a0001c0017 a0004c0007 others(6): Show a0001c0001 a0001c0017 a0004c0007 a0009c0011 a0010c0020 a0012c0014 a0013c0015 a0014c0018 a0015c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0017 a0001c0017t0001 a0004c0007t0003 a0009c0011t0003 a0010c0020t0003 a0012c0014t0003 a0013c0015t0001 a0014c0018t0009 a0015c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0020 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0002g0018 a0001c0001t0003g0005 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0026 a0001c0001t0003g0064 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0009g0019 a0001c0001t0017g0048 a0001c0017t0001g0049 a0004c0007t0003g0025 a0009c0011t0003g0075 a0009c0011t0003g0078 a0010c0020t0003g0059 a0012c0014t0003g0077 a0013c0015t0001g0045 a0014c0018t0009g0050 a0015c0019t0001g0051	193	436	0.4427	-1	c.103 others(5): Show c.1032delA	p.Glu others(5): Show p.Glu345fs	TIGD6	ENSG00000164296.7	transcript	ENST00000296736.4	protein_coding	2/2	1294/3493	1032/1566	344/521		chr5	TogoVar
TLR8_chrX_12901620_12928169	12906707	A A	G G	start_lost others(1): Show start_lost splice_region_variant	HIGH	HG00099.hp2 HG00423.hp1 HG00438.hp1 others(162): Show HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0009 a0010	a0001c0001 a0001c0004 a0001c0007 others(9): Show a0001c0001 a0001c0004 a0001c0007 a0001c0011 a0001c0015 a0001c0016 a0001c0017 a0001c0024 a0004c0014 a0005c0018 a0009c0023 a0010c0022	a0001c0001t0001 a0001c0001t0008 a0001c0004t0001 others(13): Show a0001c0001t0001 a0001c0001t0008 a0001c0004t0001 a0001c0004t0014 a0001c0007t0002 a0001c0007t0004 a0001c0007t0009 a0001c0011t0003 a0001c0015t0005 a0001c0016t0001 a0001c0017t0001 a0001c0024t0001 a0004c0014t0001 a0005c0018t0007 a0009c0023t0001 a0010c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0008g0001 a0001c0004t0001g0001 a0001c0004t0001g0003 a0001c0004t0001g0009 a0001c0004t0001g0065 a0001c0004t0001g0071 a0001c0004t0001g0075 a0001c0004t0001g0076 a0001c0004t0014g0003 a0001c0007t0002g0013 a0001c0007t0002g0025 a0001c0007t0002g0028 a0001c0007t0004g0010 a0001c0007t0004g0039 a0001c0007t0009g0010 a0001c0011t0003g0019 a0001c0011t0003g0055 a0001c0011t0003g0066 a0001c0015t0005g0037 a0001c0015t0005g0067 a0001c0016t0001g0027 a0001c0017t0001g0001 a0001c0024t0001g0011 a0004c0014t0001g0056 a0004c0014t0001g0057 a0004c0014t0001g0058 a0005c0018t0007g0059 a0005c0018t0007g0073 a0009c0023t0001g0001 a0010c0022t0001g0074	165	303	0.5446	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	TLR8	ENSG00000101916.12	transcript	ENST00000218032.7	protein_coding	1/2	88/4216	1/3126	1/1041		chrX	TogoVar
TMEM63B_chr6_44122554_44160519	44154856	CCTCATAG others(6): Show CCTCATAGAGAATG	C C	frameshift_variant frameshift_variant	HIGH	NA18965.hp2 NA18965.hp2	a0000 a0000	a0000c0011 a0000c0011	a0000c0011t0015 a0000c0011t0015	a0000c0011t0015g0107 a0000c0011t0015g0107	1	402	0.0025	-13	c.247 others(22): Show c.2473_2485delCTCATAGAGAATG	p.Leu others(5): Show p.Leu825fs	TMEM63B	ENSG00000137216.19	transcript	ENST00000323267.11	protein_coding	24/24	2622/3284	2473/2499	825/832		chr6	TogoVar
TMPRSS11A_chr4_67904395_67968493	67963391	C C	T T	start_lost start_lost	HIGH	HG00280.hp2 HG00323.hp1 HG00544.hp1 others(97): Show HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00673.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp1 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02071.hp1 HG02109.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02698.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19012.hp2 NA19054.hp1 NA19057.hp2 NA19064.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp2 NA19079.hp2 NA19082.hp2 NA19085.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp1	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0010	a0002c0002 a0002c0015 a0002c0018 others(7): Show a0002c0002 a0002c0015 a0002c0018 a0003c0005 a0003c0009 a0003c0016 a0003c0017 a0003c0019 a0005c0010 a0010c0020	a0002c0002t0002 a0002c0002t0011 a0002c0002t0019 others(13): Show a0002c0002t0002 a0002c0002t0011 a0002c0002t0019 a0002c0002t0024 a0002c0002t0027 a0002c0015t0002 a0002c0018t0002 a0003c0005t0006 a0003c0005t0007 a0003c0009t0004 a0003c0009t0015 a0003c0016t0006 a0003c0017t0004 a0003c0019t0023 a0005c0010t0002 a0010c0020t0002	a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0005 others(79): Show a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0015 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0103 a0002c0002t0002g0106 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0011g0016 a0002c0002t0019g0055 a0002c0002t0024g0089 a0002c0002t0027g0174 a0002c0015t0002g0100 a0002c0018t0002g0109 a0003c0005t0006g0022 a0003c0005t0006g0048 a0003c0005t0006g0062 a0003c0005t0006g0066 a0003c0005t0006g0067 a0003c0005t0006g0072 a0003c0005t0006g0092 a0003c0005t0006g0096 a0003c0005t0006g0107 a0003c0005t0006g0110 a0003c0005t0006g0114 a0003c0005t0007g0014 a0003c0005t0007g0065 a0003c0005t0007g0090 a0003c0005t0007g0102 a0003c0005t0007g0113 a0003c0009t0004g0013 a0003c0009t0004g0056 a0003c0009t0004g0057 a0003c0009t0004g0058 a0003c0009t0004g0104 a0003c0009t0004g0105 a0003c0009t0015g0091 a0003c0016t0006g0101 a0003c0017t0004g0050 a0003c0019t0023g0063 a0005c0010t0002g0017 a0005c0010t0002g0064 a0005c0010t0002g0079 a0005c0010t0002g0082 a0005c0010t0002g0099 a0005c0010t0002g0108 a0010c0020t0002g0085	100	394	0.2538	0	c.3G> others(1): Show c.3G>A	p.Met others(2): Show p.Met1?	TMPRSS11A	ENSG00000187054.16	transcript	ENST00000508048.6	protein_coding	1/10	103/3304	3/1257	1/418		chr4	TogoVar
TMPRSS3_chr21_42366890_42401052	42383199	C C	CTA CTA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00408.hp1 HG00408.hp2 HG00621.hp2 others(99): Show HG00408.hp1 HG00408.hp2 HG00621.hp2 HG01070.hp2 HG01123.hp2 HG01175.hp1 HG01255.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp1 HG02004.hp2 HG02040.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02486.hp1 HG02602.hp2 HG02818.hp1 HG02818.hp2 HG03098.hp2 HG03195.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18986.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19057.hp2 NA19064.hp1 NA19066.hp1 NA19072.hp1 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0007 a0011	a0001c0001 a0002c0003 a0002c0007 others(6): Show a0001c0001 a0002c0003 a0002c0007 a0004c0006 a0006c0010 a0006c0015 a0006c0022 a0007c0011 a0011c0027	a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 others(16): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0017 a0002c0007t0001 a0002c0007t0002 a0002c0007t0006 a0004c0006t0001 a0004c0006t0002 a0004c0006t0004 a0004c0006t0010 a0006c0010t0002 a0006c0010t0013 a0006c0015t0003 a0006c0022t0006 a0007c0011t0001 a0011c0027t0002	a0001c0001t0001g0251 a0002c0003t0001g0007 a0002c0003t0001g0011 others(80): Show a0001c0001t0001g0251 a0002c0003t0001g0007 a0002c0003t0001g0011 a0002c0003t0001g0017 a0002c0003t0001g0022 a0002c0003t0001g0032 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0053 a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0003t0001g0094 a0002c0003t0001g0096 a0002c0003t0001g0109 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0138 a0002c0003t0001g0156 a0002c0003t0001g0157 a0002c0003t0001g0158 a0002c0003t0001g0166 a0002c0003t0001g0175 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0186 a0002c0003t0001g0212 a0002c0003t0001g0215 a0002c0003t0001g0242 a0002c0003t0001g0245 a0002c0003t0001g0250 a0002c0003t0001g0258 a0002c0003t0001g0259 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0266 a0002c0003t0001g0271 a0002c0003t0001g0273 a0002c0003t0001g0283 a0002c0003t0001g0288 a0002c0003t0001g0296 a0002c0003t0001g0299 a0002c0003t0002g0023 a0002c0003t0002g0028 a0002c0003t0002g0079 a0002c0003t0002g0110 a0002c0003t0002g0149 a0002c0003t0002g0152 a0002c0003t0002g0232 a0002c0003t0002g0246 a0002c0003t0002g0253 a0002c0003t0002g0276 a0002c0003t0002g0279 a0002c0003t0003g0142 a0002c0003t0003g0297 a0002c0003t0004g0241 a0002c0003t0004g0278 a0002c0003t0017g0141 a0002c0007t0001g0210 a0002c0007t0001g0236 a0002c0007t0002g0344 a0002c0007t0002g0350 a0002c0007t0006g0261 a0002c0007t0006g0351 a0004c0006t0001g0309 a0004c0006t0001g0316 a0004c0006t0001g0324 a0004c0006t0001g0327 a0004c0006t0001g0342 a0004c0006t0002g0317 a0004c0006t0004g0001 a0004c0006t0004g0285 a0004c0006t0004g0301 a0004c0006t0004g0303 a0004c0006t0010g0047 a0006c0010t0002g0368 a0006c0010t0002g0369 a0006c0010t0013g0377 a0006c0015t0003g0061 a0006c0015t0003g0062 a0006c0022t0006g0072 a0007c0011t0001g0035 a0007c0011t0001g0353 a0011c0027t0002g0376	102	472	0.2161	2	c.617 others(13): Show c.617-3_617-2dupTA		TMPRSS3	ENSG00000160183.17	transcript	ENST00000644384.2	protein_coding	7/12					chr21	TogoVar
TNK1_chr17_7376089_7394742	7387376	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00323.hp2 HG00438.hp2 others(53): Show HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01255.hp1 HG01258.hp1 HG01361.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG02074.hp1 HG02132.hp1 HG02135.hp2 HG02273.hp2 HG02293.hp2 NA18943.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18967.hp2 NA18970.hp2 NA18974.hp1 NA18987.hp1 NA18990.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19059.hp2 NA19063.hp1 NA19066.hp1 NA19067.hp2 NA19072.hp2 NA19078.hp1 NA19083.hp1 NA19083.hp2 NA19090.hp2 NA20805.hp1	a0001 a0003 a0009 others(3): Show a0001 a0003 a0009 a0012 a0013 a0016	a0001c0001 a0001c0002 a0001c0031 others(5): Show a0001c0001 a0001c0002 a0001c0031 a0003c0007 a0009c0016 a0012c0024 a0013c0026 a0016c0028	a0001c0001t0001 a0001c0002t0001 a0001c0031t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0031t0001 a0003c0007t0001 a0009c0016t0001 a0012c0024t0001 a0013c0026t0001 a0016c0028t0001	a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0048 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0002t0001g0057 a0001c0031t0001g0001 a0003c0007t0001g0001 a0003c0007t0001g0129 a0009c0016t0001g0001 a0009c0016t0001g0048 a0012c0024t0001g0001 a0013c0026t0001g0125 a0016c0028t0001g0043	56	452	0.1239	0	c.139 others(6): Show c.1398-2A>G		TNK1	ENSG00000174292.13	transcript	ENST00000688331.1	protein_coding	9/12					chr17	TogoVar
TRIM51G_chr11_48970498_48988885	48978871	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(271): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0006 a0001c0011 others(7): Show a0001c0001 a0001c0006 a0001c0011 a0003c0003 a0005c0007 a0006c0008 a0007c0009 a0008c0017 a0009c0013 a0010c0012	a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 a0001c0011t0001 a0003c0003t0001 a0005c0007t0001 a0006c0008t0001 a0007c0009t0001 a0008c0017t0001 a0009c0013t0001 a0010c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(74): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0004g0054 a0001c0006t0003g0032 a0001c0006t0003g0044 a0001c0006t0003g0098 a0001c0006t0003g0099 a0001c0011t0001g0126 a0003c0003t0001g0001 a0003c0003t0001g0006 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0001g0106 a0003c0003t0001g0107 a0005c0007t0001g0112 a0005c0007t0001g0113 a0005c0007t0001g0114 a0006c0008t0001g0122 a0006c0008t0001g0125 a0007c0009t0001g0121 a0008c0017t0001g0123 a0009c0013t0001g0133 a0010c0012t0001g0136	274	424	0.6462	0	c.738 others(5): Show c.738+1G>C		TRIM51G	ENSG00000220948.6	transcript	ENST00000534741.3	protein_coding	4/6					chr11	TogoVar
TUBA3E_chr2_130186745_130203439	130197356	ACACACCT others(2467): Show ACACACCTGTAGTACCAGCTACTCGGAAGGCTGAGGCGGGAGGACTGCTG GAAGCCAGGGGTTCAAGGCTGCAGGGAGCCGTGATCTTGCAACTGTGTTC CAGCCTGGGCAACAGAGCATTTATTGAGTGCTGTCTCAAAAAAAAAAAAA AAAGAAAAGAAAAGAAAAAAGAAAAAGAAAGGAAAAAAAGGATAACTGAC AAATCACAGCTATTCAGACTTGGGACTTGGGAATCTGTTATGTTAATGGG CTGCTTTTTTTGTTTGGTTTTTTGAGGCAGGGTCTCTGTGGCCCAGGCTG GAGTGCACTGGCGCCATCACGACTCACTGCAGCCTCAAAGTTCCAGGCTC GGCTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGAACCACAGACTCGC ATCACCATGCCCGGGTAATTTTAGTATTTTTTTGTAGAGACTGGGTTTCG CCATGTTGGTCGGGCTGATCTTGAACTCCAGACATCAGGGGATCCGCCCG CCTCCACCTCCCCAAGGGCTGGGATTCCAGGCGTGAGCCGCCGCGCCTGG CCTAACGGTTGCCTTTAGGTGAACAAGGCAATGTTGCAGCAGCGTCTGAG CCTTAATTCCTCATCTGACCAATGTCCACAGCCCCAACCCCCGTCACCGA AGGCTCCTGCAGCTCCTCAGCTGTTTCCAGTAGCACAAAGACGTGTGAAG CGGGAGCAGCGCCCTCCTGTCTTCAGGAGGCGACGCCACTATTTGCTCTC TGGGGGACGGGATACCGTCAATGGTCCCCGTCCACTAAAGGCCGGCAGCT TCATCTAAAACAAAAGCCGCCGTCCCTGCCCTGGGACCTGCAGATCCAGG AAACGATCCCGTGTCCTCCTGTCCCGCACTAGACCCTGCGTCCTTCTCTG GCCTCCTCTCAGCGCCCAGGCCCGCAACAACGTCCCTCTGTCCACCCGAG GCCAACTTCGTCTGCCTGGGCATCTGCGGGGCGGGAGTGACCCGGGTCTT ACCATGGCGAACTCCGCTGCTTCAGCCCAACGCTACTTCCAGACCTCAAC CGGCTGCCACAGCTGCTGAGCGCCCAACTGCAATGACCTGCCCACGCGCG CCGCACAGGATTGGCCTGCCGGTGCCAGGCCGCCATTGGCTCGGAGTTCC TGGGAGGCAGGCCGAGGGCCGGATCCCAGTTCTGATTGGCCGTTGCTCAA CACGTGTAGTGGGGATGCTCTCTGATTGGATGCAGGATTGGCGGGAAGGC AGCGGGGTCATCAAAGGCTGCGCGGTTGCTGAGGCATTTCCGGGGTGTCT TCCGACCAGGATTGGAACAGCTACTGCGCTGCCTCTGTGGGTCGCGGAAC ATTGCCTTGCTCCCAGTGTGCCACTGCCCCTCCCTGATTGCCCCAGGCCT GCTCCTCTCCCTGCCTAATTCAGATCTTTGCAAACAAGGCCACCTCTGAG AGGCCTTGCCGCCATCTACCCAAGTCACAGCAGCACCGCAATTATCCCCC TCTTCCCTGTTCCCACCCAGCACCCGGGAAGTGGCAGGATTCAATCACTT TTCTGACCCAAAGGGAGAAAACGGGCCGGGCGCGATGGCTAACGCCTGCA ATCCCAGCACTTCGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAAGAG TTCCCGAGACCAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAA CACAAAAATTACCCTGGCTGGTGGTAGGCACCTGTAATCCCAGCTACACG GGAGGCTGAGGTAGGAGAATCGCTTGAAACTGGGAGGCAGTTGTTGCAGT GAGCCGAGATTGGGCCACAGCACACTCCAGCCTGGGCAACAGAGCCAGAC TCTGTCTCAAAAAAAAAAGGAAGAAAGGAGGCAAAATTAACGTAAGTGGA GAGGTTGGGCCAGGCACACCAGCTCATGCCTGTAATTCCAGTGCTTTGGG AGGCCACGGCAGGAGGATTGCTTCAGGTCAGGAGTTCGAGACCAGCCTGG GCAACGTGGTGAGTCCCACCTTGCCCGTTTCTACAAAAAATAAAATTAGC AAGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGC AGGAGAATCCCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCA CGCCACTGCACTCAAGCCTGGGTGACAGAGCAAAACTCCATCTTGAAAAA AAAAATAGTTTATTTGGGCCAAGTTTGAGAAGTGCAACCCTGGAGATGCA AGTTGTCTTAAAATATTAGCAGCAGTTATAAGTGGGTTTTTAAAGGAAAA GAAGAGGCAGTTCCTAAGTTGTTTACCAAGAATTTGAAATTAGAGAAGTC TTGCTGTGTTGTCCAGGCTAGTCTTGAACTCCTGACCTGAAGGGATCCTC CTACCTCGGCTGGCCTAGCCTGAGGAATTTATATTAAAATAACGTAAGCT ATTTATTGGGCCAGGCGTGGTGGCT	A A	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0011 others(14): Show a0001c0002 a0001c0005 a0001c0011 a0001c0013 a0001c0015 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042	a0001c0002t0002 a0001c0005t0002 a0001c0011t0002 others(14): Show a0001c0002t0002 a0001c0005t0002 a0001c0011t0002 a0001c0013t0002 a0001c0015t0002 a0001c0031t0002 a0001c0032t0002 a0001c0033t0002 a0001c0034t0002 a0001c0035t0002 a0001c0036t0002 a0001c0037t0002 a0001c0038t0002 a0001c0039t0002 a0001c0040t0002 a0001c0041t0002 a0001c0042t0002	a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 others(31): Show a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0015 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0026 a0001c0002t0002g0028 a0001c0002t0002g0033 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0043 a0001c0002t0002g0046 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0005t0002g0005 a0001c0005t0002g0018 a0001c0005t0002g0034 a0001c0011t0002g0014 a0001c0013t0002g0027 a0001c0013t0002g0041 a0001c0015t0002g0029 a0001c0031t0002g0035 a0001c0032t0002g0036 a0001c0033t0002g0039 a0001c0034t0002g0040 a0001c0035t0002g0042 a0001c0036t0002g0044 a0001c0037t0002g0045 a0001c0038t0002g0047 a0001c0039t0002g0048 a0001c0040t0002g0049 a0001c0041t0002g0050 a0001c0042t0002g0051	177	428	0.4136	-2474	c.-14 others(11): Show c.-1470_4-986del		TUBA3E	ENSG00000152086.9	transcript	ENST00000312988.9	protein_coding	1/5					chr2	TogoVar
UNCX_chr7_1227872_1242326	1236226	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01243.hp2 HG01361.hp2 HG02896.hp1 others(9): Show HG01243.hp2 HG01361.hp2 HG02896.hp1 NA18942.hp1 NA18949.hp2 NA18965.hp1 NA18988.hp1 NA18991.hp1 NA19002.hp1 NA19054.hp2 NA19063.hp1 NA19083.hp2	a0000 a0000	a0000c0002 a0000c0007 a0000c0002 a0000c0007	a0000c0002t0001 a0000c0002t0002 a0000c0007t0001 a0000c0002t0001 a0000c0002t0002 a0000c0007t0001	a0000c0002t0001g0001 a0000c0002t0001g0002 a0000c0002t0001g0004 others(6): Show a0000c0002t0001g0001 a0000c0002t0001g0002 a0000c0002t0001g0004 a0000c0002t0001g0006 a0000c0002t0001g0009 a0000c0002t0001g0014 a0000c0002t0001g0038 a0000c0002t0002g0021 a0000c0007t0001g0066	12	406	0.0296	1	c.849 others(4): Show c.849dupC	p.Ala others(5): Show p.Ala284fs	UNCX	ENSG00000164853.9	transcript	ENST00000316333.9	protein_coding	3/3	996/2091	850/1596	284/531	INFO_REALIGN_3_PRIME	chr7	TogoVar
USP29_chr19_57114985_57136926	57131414	C C	A A	stop_gained stop_gained	HIGH	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(404): Show HG00099.hp2 HG00140.hp1 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 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.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 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.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 HG01516.hp1 HG01516.hp2 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 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 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 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 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 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 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.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 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.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 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.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 NA18976.hp1 NA18976.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.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 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.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 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.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 a0002 a0003 others(15): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0019 a0020	a0001c0001 a0001c0003 a0001c0005 others(23): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0019 a0001c0021 a0001c0023 a0001c0028 a0002c0002 a0002c0026 a0003c0004 a0005c0010 a0006c0008 a0007c0009 a0008c0012 a0009c0011 a0010c0027 a0011c0025 a0012c0016 a0013c0015 a0014c0018 a0015c0020 a0016c0022 a0017c0017 a0019c0024 a0020c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0007 a0001c0003t0008 a0001c0005t0001 a0001c0007t0004 a0001c0019t0001 a0001c0021t0008 a0001c0023t0004 a0001c0028t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0026t0002 a0003c0004t0003 a0003c0004t0006 a0005c0010t0001 a0006c0008t0002 a0007c0009t0001 a0008c0012t0003 a0009c0011t0003 a0010c0027t0004 a0011c0025t0001 a0012c0016t0002 a0013c0015t0003 a0014c0018t0012 a0015c0020t0001 a0016c0022t0001 a0017c0017t0002 a0019c0024t0001 a0020c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(223): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0193 a0001c0001t0002g0002 a0001c0001t0002g0098 a0001c0001t0002g0125 a0001c0001t0013g0002 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0095 a0001c0003t0001g0102 a0001c0003t0001g0103 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0002g0016 a0001c0003t0002g0196 a0001c0003t0002g0198 a0001c0003t0004g0008 a0001c0003t0004g0014 a0001c0003t0004g0017 a0001c0003t0004g0023 a0001c0003t0004g0029 a0001c0003t0004g0055 a0001c0003t0004g0137 a0001c0003t0004g0138 a0001c0003t0004g0147 a0001c0003t0004g0151 a0001c0003t0004g0152 a0001c0003t0004g0153 a0001c0003t0004g0154 a0001c0003t0004g0155 a0001c0003t0004g0156 a0001c0003t0004g0157 a0001c0003t0004g0158 a0001c0003t0004g0179 a0001c0003t0004g0200 a0001c0003t0005g0024 a0001c0003t0005g0035 a0001c0003t0005g0036 a0001c0003t0005g0067 a0001c0003t0005g0068 a0001c0003t0005g0075 a0001c0003t0007g0018 a0001c0003t0007g0069 a0001c0003t0008g0045 a0001c0003t0008g0099 a0001c0005t0001g0001 a0001c0005t0001g0002 a0001c0005t0001g0013 a0001c0005t0001g0021 a0001c0007t0004g0029 a0001c0007t0004g0148 a0001c0019t0001g0012 a0001c0021t0008g0100 a0001c0023t0004g0017 a0001c0028t0001g0021 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0015 a0002c0002t0001g0175 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0011 a0002c0002t0002g0015 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0009g0011 a0002c0002t0009g0031 a0002c0002t0010g0058 a0002c0002t0011g0162 a0002c0026t0002g0180 a0003c0004t0003g0003 a0003c0004t0003g0007 a0003c0004t0003g0009 a0003c0004t0003g0010 a0003c0004t0003g0019 a0003c0004t0003g0025 a0003c0004t0003g0037 a0003c0004t0003g0038 a0003c0004t0003g0039 a0003c0004t0003g0040 a0003c0004t0003g0042 a0003c0004t0003g0043 a0003c0004t0003g0070 a0003c0004t0003g0072 a0003c0004t0003g0073 a0003c0004t0003g0074 a0003c0004t0003g0076 a0003c0004t0003g0077 a0003c0004t0003g0078 a0003c0004t0003g0079 a0003c0004t0003g0080 a0003c0004t0003g0081 a0003c0004t0003g0083 a0003c0004t0003g0084 a0003c0004t0003g0085 a0003c0004t0003g0086 a0003c0004t0003g0087 a0003c0004t0003g0088 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0006g0003 a0003c0004t0006g0009 a0003c0004t0006g0010 a0005c0010t0001g0001 a0005c0010t0001g0002 a0005c0010t0001g0020 a0006c0008t0002g0066 a0006c0008t0002g0199 a0007c0009t0001g0026 a0008c0012t0003g0007 a0009c0011t0003g0041 a0010c0027t0004g0014 a0011c0025t0001g0027 a0012c0016t0002g0201 a0013c0015t0003g0007 a0014c0018t0012g0197 a0015c0020t0001g0004 a0016c0022t0001g0071 a0017c0017t0002g0176 a0019c0024t0001g0131 a0020c0013t0001g0001	407	416	0.9784	0	c.273 others(4): Show c.2739C>A	p.Tyr others(4): Show p.Tyr913*	USP29	ENSG00000131864.11	transcript	ENST00000254181.9	protein_coding	4/4	3251/3763	2739/2769	913/922		chr19	TogoVar
USP53_chr4_119207713_119300518	119292486	A A	ATAGAAAA others(3): Show ATAGAAAATTC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18965.hp1 NA18965.hp1	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0003 a0009c0020t0003	a0009c0020t0003g0253 a0009c0020t0003g0253	1	380	0.0026	10	c.249 others(19): Show c.2499_2508dupAGAAAATTCT	p.Glu others(5): Show p.Glu837fs	USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	19/19	3611/6631	2509/3222	837/1073	INFO_REALIGN_3_PRIME	chr4	TogoVar
VCX3B_chrX_8459830_8471510	8464991	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00280.hp1 HG00438.hp2 HG00558.hp1 others(134): Show HG00280.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01257.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03927.hp1 HG04115.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18971.hp1 NA18972.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19075.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0000 a0001 a0003 others(40): Show a0000 a0001 a0003 a0005 a0006 a0007 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0021 a0024 a0025 a0027 a0030 a0031 a0032 a0033 a0037 a0038 a0039 a0043 a0044 a0046 a0047 a0049 a0050 a0051 a0054 a0056 a0058 a0061 a0067 a0071 a0072 a0075 a0081	a0000c0083 a0001c0001 a0001c0088 others(48): Show a0000c0083 a0001c0001 a0001c0088 a0003c0003 a0003c0014 a0003c0061 a0005c0005 a0005c0010 a0005c0069 a0005c0089 a0006c0007 a0006c0036 a0007c0006 a0009c0009 a0011c0019 a0012c0012 a0013c0013 a0014c0020 a0014c0081 a0015c0015 a0016c0016 a0017c0017 a0018c0018 a0019c0023 a0021c0021 a0024c0025 a0025c0027 a0027c0030 a0030c0087 a0031c0101 a0032c0035 a0033c0037 a0037c0042 a0038c0049 a0039c0054 a0043c0048 a0044c0047 a0046c0046 a0047c0041 a0049c0039 a0050c0058 a0051c0059 a0054c0066 a0056c0065 a0058c0062 a0061c0073 a0067c0079 a0071c0090 a0072c0084 a0075c0092 a0081c0098	a0000c0083t0031 a0001c0001t0001 a0001c0001t0008 others(61): Show a0000c0083t0031 a0001c0001t0001 a0001c0001t0008 a0001c0001t0019 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0088t0001 a0003c0003t0003 a0003c0014t0003 a0003c0061t0003 a0005c0005t0003 a0005c0005t0006 a0005c0005t0007 a0005c0005t0008 a0005c0010t0003 a0005c0010t0032 a0005c0069t0003 a0005c0089t0027 a0006c0007t0012 a0006c0036t0002 a0007c0006t0003 a0007c0006t0009 a0009c0009t0007 a0009c0009t0024 a0011c0019t0008 a0012c0012t0003 a0013c0013t0003 a0014c0020t0016 a0014c0020t0036 a0014c0081t0001 a0015c0015t0006 a0016c0016t0005 a0017c0017t0003 a0017c0017t0007 a0018c0018t0014 a0019c0023t0006 a0021c0021t0001 a0024c0025t0005 a0025c0027t0005 a0027c0030t0004 a0030c0087t0001 a0031c0101t0003 a0032c0035t0026 a0033c0037t0003 a0037c0042t0003 a0038c0049t0005 a0039c0054t0005 a0043c0048t0003 a0044c0047t0025 a0046c0046t0003 a0047c0041t0023 a0049c0039t0006 a0050c0058t0005 a0051c0059t0005 a0054c0066t0001 a0056c0065t0003 a0058c0062t0003 a0061c0073t0007 a0067c0079t0008 a0071c0090t0001 a0072c0084t0003 a0075c0092t0003 a0081c0098t0001	a0000c0083t0031g0037 a0001c0001t0001g0001 a0001c0001t0001g0014 others(72): Show a0000c0083t0031g0037 a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0008g0001 a0001c0001t0019g0042 a0001c0001t0034g0001 a0001c0001t0035g0001 a0001c0001t0037g0001 a0001c0088t0001g0001 a0003c0003t0003g0004 a0003c0003t0003g0011 a0003c0003t0003g0029 a0003c0003t0003g0035 a0003c0014t0003g0005 a0003c0014t0003g0008 a0003c0061t0003g0004 a0005c0005t0003g0004 a0005c0005t0006g0005 a0005c0005t0007g0016 a0005c0005t0008g0028 a0005c0010t0003g0004 a0005c0010t0003g0041 a0005c0010t0032g0004 a0005c0069t0003g0038 a0005c0089t0027g0039 a0006c0007t0012g0013 a0006c0036t0002g0023 a0007c0006t0003g0005 a0007c0006t0009g0005 a0009c0009t0007g0008 a0009c0009t0024g0008 a0011c0019t0008g0001 a0012c0012t0003g0010 a0013c0013t0003g0004 a0013c0013t0003g0011 a0014c0020t0016g0001 a0014c0020t0036g0001 a0014c0081t0001g0001 a0015c0015t0006g0009 a0016c0016t0005g0005 a0017c0017t0003g0005 a0017c0017t0003g0032 a0017c0017t0007g0008 a0018c0018t0014g0005 a0019c0023t0006g0015 a0021c0021t0001g0001 a0021c0021t0001g0014 a0024c0025t0005g0017 a0025c0027t0005g0005 a0027c0030t0004g0024 a0027c0030t0004g0025 a0030c0087t0001g0001 a0031c0101t0003g0040 a0032c0035t0026g0034 a0033c0037t0003g0016 a0037c0042t0003g0009 a0038c0049t0005g0005 a0039c0054t0005g0005 a0043c0048t0003g0010 a0044c0047t0025g0031 a0046c0046t0003g0009 a0047c0041t0023g0033 a0049c0039t0006g0036 a0050c0058t0005g0005 a0051c0059t0005g0005 a0054c0066t0001g0027 a0056c0065t0003g0004 a0058c0062t0003g0004 a0061c0073t0007g0008 a0067c0079t0008g0001 a0071c0090t0001g0001 a0072c0084t0003g0011 a0075c0092t0003g0030 a0081c0098t0001g0001	137	271	0.5055	0	c.-14 others(6): Show c.-147+1G>A		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	1/2					chrX	TogoVar
VDR_chr12_47836537_47909994	47879112	A A	G G	start_lost start_lost	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(236): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 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.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19066.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0006 others(9): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0013 a0001c0014 a0001c0016 a0003c0012 a0004c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(67): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0010 a0001c0003t0017 a0001c0003t0023 a0001c0003t0030 a0001c0003t0035 a0001c0003t0040 a0001c0003t0042 a0001c0003t0044 a0001c0003t0049 a0001c0003t0066 a0001c0006t0026 a0001c0007t0012 a0001c0008t0002 a0001c0008t0010 a0001c0009t0014 a0001c0009t0062 a0001c0011t0050 a0001c0013t0043 a0001c0014t0025 a0001c0016t0025 a0003c0012t0001 a0004c0015t0011	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 others(234): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0217 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0265 a0001c0001t0001g0290 a0001c0001t0001g0294 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0063 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0172 a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0003g0203 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0256 a0001c0001t0003g0267 a0001c0001t0004g0025 a0001c0001t0004g0036 a0001c0001t0004g0065 a0001c0001t0004g0080 a0001c0001t0004g0090 a0001c0001t0004g0125 a0001c0001t0004g0128 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0144 a0001c0001t0004g0165 a0001c0001t0004g0171 a0001c0001t0004g0234 a0001c0001t0004g0266 a0001c0001t0004g0285 a0001c0001t0004g0293 a0001c0001t0004g0324 a0001c0001t0004g0339 a0001c0001t0004g0341 a0001c0001t0005g0079 a0001c0001t0005g0091 a0001c0001t0005g0112 a0001c0001t0005g0136 a0001c0001t0005g0143 a0001c0001t0005g0168 a0001c0001t0005g0245 a0001c0001t0005g0261 a0001c0001t0005g0315 a0001c0001t0006g0009 a0001c0001t0006g0013 a0001c0001t0006g0118 a0001c0001t0006g0151 a0001c0001t0006g0156 a0001c0001t0006g0198 a0001c0001t0006g0211 a0001c0001t0006g0222 a0001c0001t0006g0240 a0001c0001t0006g0241 a0001c0001t0006g0253 a0001c0001t0006g0310 a0001c0001t0007g0041 a0001c0001t0007g0074 a0001c0001t0007g0087 a0001c0001t0007g0130 a0001c0001t0007g0173 a0001c0001t0007g0202 a0001c0001t0007g0235 a0001c0001t0008g0273 a0001c0001t0008g0279 a0001c0001t0008g0330 a0001c0001t0008g0340 a0001c0001t0009g0345 a0001c0001t0009g0352 a0001c0001t0011g0052 a0001c0001t0011g0213 a0001c0001t0011g0214 a0001c0001t0011g0215 a0001c0001t0013g0005 a0001c0001t0013g0114 a0001c0001t0013g0262 a0001c0001t0013g0302 a0001c0001t0014g0030 a0001c0001t0014g0318 a0001c0001t0015g0329 a0001c0001t0015g0337 a0001c0001t0016g0024 a0001c0001t0016g0343 a0001c0001t0018g0135 a0001c0001t0018g0201 a0001c0001t0019g0109 a0001c0001t0020g0042 a0001c0001t0020g0078 a0001c0001t0021g0031 a0001c0001t0021g0032 a0001c0001t0021g0297 a0001c0001t0022g0071 a0001c0001t0022g0072 a0001c0001t0024g0053 a0001c0001t0024g0351 a0001c0001t0027g0002 a0001c0001t0028g0282 a0001c0001t0028g0301 a0001c0001t0029g0045 a0001c0001t0029g0319 a0001c0001t0032g0292 a0001c0001t0033g0278 a0001c0001t0034g0353 a0001c0001t0036g0210 a0001c0001t0037g0182 a0001c0001t0038g0023 a0001c0001t0041g0326 a0001c0001t0045g0259 a0001c0001t0046g0350 a0001c0001t0047g0208 a0001c0001t0052g0161 a0001c0001t0053g0288 a0001c0001t0054g0295 a0001c0001t0056g0296 a0001c0001t0057g0287 a0001c0001t0059g0034 a0001c0001t0060g0243 a0001c0001t0063g0191 a0001c0001t0064g0237 a0001c0001t0065g0338 a0001c0001t0068g0206 a0001c0001t0069g0336 a0001c0001t0070g0196 a0001c0003t0002g0007 a0001c0003t0002g0019 a0001c0003t0002g0026 a0001c0003t0002g0029 a0001c0003t0002g0038 a0001c0003t0002g0048 a0001c0003t0002g0049 a0001c0003t0002g0060 a0001c0003t0002g0061 a0001c0003t0002g0067 a0001c0003t0002g0068 a0001c0003t0002g0075 a0001c0003t0002g0081 a0001c0003t0002g0083 a0001c0003t0002g0086 a0001c0003t0002g0093 a0001c0003t0002g0134 a0001c0003t0002g0145 a0001c0003t0002g0150 a0001c0003t0002g0192 a0001c0003t0002g0194 a0001c0003t0002g0197 a0001c0003t0002g0221 a0001c0003t0002g0228 a0001c0003t0002g0231 a0001c0003t0002g0239 a0001c0003t0002g0246 a0001c0003t0002g0250 a0001c0003t0002g0289 a0001c0003t0002g0298 a0001c0003t0002g0321 a0001c0003t0002g0342 a0001c0003t0002g0346 a0001c0003t0002g0347 a0001c0003t0007g0183 a0001c0003t0009g0054 a0001c0003t0009g0122 a0001c0003t0009g0185 a0001c0003t0009g0195 a0001c0003t0010g0212 a0001c0003t0010g0251 a0001c0003t0010g0333 a0001c0003t0017g0008 a0001c0003t0017g0258 a0001c0003t0023g0051 a0001c0003t0023g0306 a0001c0003t0030g0334 a0001c0003t0035g0070 a0001c0003t0040g0316 a0001c0003t0042g0331 a0001c0003t0044g0299 a0001c0003t0049g0066 a0001c0003t0066g0335 a0001c0006t0026g0123 a0001c0006t0026g0356 a0001c0007t0012g0107 a0001c0007t0012g0108 a0001c0008t0002g0332 a0001c0008t0010g0281 a0001c0009t0014g0283 a0001c0009t0062g0307 a0001c0011t0050g0044 a0001c0013t0043g0037 a0001c0014t0025g0325 a0001c0016t0025g0028 a0003c0012t0001g0313 a0004c0015t0011g0216	239	358	0.6676	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	VDR	ENSG00000111424.12	transcript	ENST00000549336.6	protein_coding	3/10	125/4616	2/1284	1/427		chr12	TogoVar
VWDE_chr7_12325885_12408865	12351642	T T	TA TA	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00423.hp1 HG00558.hp1 others(69): Show HG00099.hp1 HG00423.hp1 HG00558.hp1 HG00673.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG02015.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp1 NA18612.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18963.hp1 NA18965.hp2 NA18968.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA19004.hp1 NA19005.hp1 NA19012.hp1 NA19043.hp1 NA19054.hp1 NA19057.hp1 NA19059.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19072.hp1 NA19079.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp2 NA21309.hp2	a0002 a0008 a0011 others(7): Show a0002 a0008 a0011 a0015 a0017 a0019 a0026 a0027 a0040 a0060	a0002c0002 a0002c0046 a0002c0047 others(9): Show a0002c0002 a0002c0046 a0002c0047 a0008c0068 a0011c0010 a0015c0014 a0017c0018 a0019c0027 a0026c0035 a0027c0034 a0040c0042 a0060c0064	a0002c0002t0004 a0002c0046t0004 a0002c0047t0007 others(11): Show a0002c0002t0004 a0002c0046t0004 a0002c0047t0007 a0008c0068t0001 a0011c0010t0007 a0015c0014t0001 a0015c0014t0003 a0015c0014t0013 a0017c0018t0008 a0019c0027t0001 a0026c0035t0001 a0027c0034t0010 a0040c0042t0008 a0060c0064t0008	a0002c0002t0004g0001 a0002c0002t0004g0002 a0002c0002t0004g0003 others(43): Show a0002c0002t0004g0001 a0002c0002t0004g0002 a0002c0002t0004g0003 a0002c0002t0004g0008 a0002c0002t0004g0040 a0002c0002t0004g0041 a0002c0002t0004g0251 a0002c0002t0004g0253 a0002c0002t0004g0254 a0002c0002t0004g0255 a0002c0002t0004g0256 a0002c0002t0004g0257 a0002c0002t0004g0258 a0002c0002t0004g0259 a0002c0002t0004g0261 a0002c0002t0004g0262 a0002c0002t0004g0263 a0002c0002t0004g0264 a0002c0002t0004g0268 a0002c0002t0004g0269 a0002c0002t0004g0270 a0002c0002t0004g0272 a0002c0002t0004g0273 a0002c0002t0004g0274 a0002c0046t0004g0271 a0002c0047t0007g0289 a0008c0068t0001g0165 a0011c0010t0007g0042 a0011c0010t0007g0279 a0011c0010t0007g0280 a0011c0010t0007g0287 a0011c0010t0007g0288 a0015c0014t0001g0147 a0015c0014t0003g0015 a0015c0014t0003g0090 a0015c0014t0013g0250 a0017c0018t0008g0283 a0017c0018t0008g0284 a0017c0018t0008g0285 a0019c0027t0001g0110 a0019c0027t0001g0164 a0026c0035t0001g0183 a0026c0035t0001g0184 a0027c0034t0010g0016 a0040c0042t0008g0276 a0060c0064t0008g0275	72	374	0.1925	1	c.381 others(5): Show c.3816dupT	p.Lys others(6): Show p.Lys1273fs	VWDE	ENSG00000146530.15	transcript	ENST00000275358.8	protein_coding	19/29	3965/5220	3816/4773	1272/1590		chr7	TogoVar
VWDE_chr7_12325885_12408865	12375099	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00423.hp1 HG00558.hp1 others(70): Show HG00099.hp1 HG00423.hp1 HG00558.hp1 HG00673.hp1 HG00741.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG02015.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02717.hp1 HG02818.hp1 HG02886.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 NA18612.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18960.hp1 NA18963.hp1 NA18965.hp2 NA18968.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA19004.hp1 NA19005.hp1 NA19012.hp1 NA19054.hp1 NA19057.hp1 NA19059.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19072.hp1 NA19075.hp2 NA19079.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp2	a0002 a0008 a0011 others(3): Show a0002 a0008 a0011 a0019 a0026 a0038	a0002c0002 a0002c0043 a0002c0044 others(12): Show a0002c0002 a0002c0043 a0002c0044 a0002c0045 a0002c0046 a0002c0047 a0008c0012 a0008c0028 a0008c0068 a0008c0069 a0011c0010 a0019c0027 a0019c0060 a0026c0035 a0038c0049	a0002c0002t0004 a0002c0043t0005 a0002c0044t0014 others(12): Show a0002c0002t0004 a0002c0043t0005 a0002c0044t0014 a0002c0045t0005 a0002c0046t0004 a0002c0047t0007 a0008c0012t0003 a0008c0028t0002 a0008c0068t0001 a0008c0069t0015 a0011c0010t0007 a0019c0027t0001 a0019c0060t0006 a0026c0035t0001 a0038c0049t0005	a0002c0002t0004g0001 a0002c0002t0004g0002 a0002c0002t0004g0003 others(44): Show a0002c0002t0004g0001 a0002c0002t0004g0002 a0002c0002t0004g0003 a0002c0002t0004g0008 a0002c0002t0004g0040 a0002c0002t0004g0041 a0002c0002t0004g0251 a0002c0002t0004g0253 a0002c0002t0004g0254 a0002c0002t0004g0255 a0002c0002t0004g0256 a0002c0002t0004g0257 a0002c0002t0004g0258 a0002c0002t0004g0259 a0002c0002t0004g0261 a0002c0002t0004g0262 a0002c0002t0004g0263 a0002c0002t0004g0264 a0002c0002t0004g0268 a0002c0002t0004g0269 a0002c0002t0004g0270 a0002c0002t0004g0272 a0002c0002t0004g0273 a0002c0002t0004g0274 a0002c0043t0005g0260 a0002c0044t0014g0267 a0002c0045t0005g0286 a0002c0046t0004g0271 a0002c0047t0007g0289 a0008c0012t0003g0013 a0008c0012t0003g0014 a0008c0012t0003g0051 a0008c0028t0002g0200 a0008c0028t0002g0238 a0008c0068t0001g0165 a0008c0069t0015g0252 a0011c0010t0007g0042 a0011c0010t0007g0279 a0011c0010t0007g0280 a0011c0010t0007g0287 a0011c0010t0007g0288 a0019c0027t0001g0110 a0019c0027t0001g0164 a0019c0060t0006g0127 a0026c0035t0001g0183 a0026c0035t0001g0184 a0038c0049t0005g0293	73	374	0.1952	0	c.115 others(4): Show c.1153C>T	p.Arg others(4): Show p.Arg385*	VWDE	ENSG00000146530.15	transcript	ENST00000275358.8	protein_coding	8/29	1302/5220	1153/4773	385/1590		chr7	TogoVar
YBX1_chr1_42677418_42708805	42700882	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG00741.hp2 HG01243.hp1 others(4): Show HG00621.hp1 HG00741.hp2 HG01243.hp1 HG01891.hp2 HG03540.hp2 NA18965.hp2 NA18997.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004	a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0049 others(4): Show a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0049 a0002c0002t0001g0102 a0002c0002t0002g0003 a0002c0002t0002g0052 a0002c0002t0004g0032	7	402	0.0174	1	c.844 others(4): Show c.844dupC	p.Arg others(5): Show p.Arg282fs	YBX1	ENSG00000065978.19	transcript	ENST00000321358.12	protein_coding	7/8	993/2979	845/975	282/324	INFO_REALIGN_3_PRIME	chr1	TogoVar
ZC2HC1C_chr14_75064641_75084988	75070618	T T	TA TA	frameshift_variant frameshift_variant	HIGH	HG02040.hp2 NA18612.hp1 NA18945.hp2 others(4): Show HG02040.hp2 NA18612.hp1 NA18945.hp2 NA18965.hp2 NA18969.hp2 NA18990.hp1 NA19011.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0016 a0004c0004t0001g0001 a0004c0004t0001g0016	7	394	0.0178	1	c.46d others(3): Show c.46dupA	p.Met others(4): Show p.Met16fs	ZC2HC1C	ENSG00000119703.15	transcript	ENST00000524913.3	protein_coding	2/3	175/3923	47/1371	16/456	INFO_REALIGN_3_PRIME	chr14	TogoVar
ZC3H3_chr8_143432659_143546447	143440217	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(50): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00558.hp2 HG00621.hp1 HG00673.hp2 HG00741.hp2 HG01109.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG02056.hp1 HG02132.hp2 HG02155.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG03017.hp1 HG03704.hp2 NA18747.hp2 NA18943.hp1 NA18946.hp1 NA18948.hp2 NA18951.hp2 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18965.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18991.hp1 NA18993.hp2 NA18995.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19057.hp1 NA19064.hp1 NA19068.hp2 NA19070.hp1 NA19083.hp2 NA19087.hp1 NA19091.hp1 NA20805.hp2	a0003 a0012 a0013 others(3): Show a0003 a0012 a0013 a0028 a0029 a0036	a0003c0003 a0003c0042 a0003c0051 others(5): Show a0003c0003 a0003c0042 a0003c0051 a0012c0012 a0013c0016 a0028c0034 a0029c0041 a0036c0032	a0003c0003t0002 a0003c0003t0006 a0003c0042t0002 others(6): Show a0003c0003t0002 a0003c0003t0006 a0003c0042t0002 a0003c0051t0002 a0012c0012t0002 a0013c0016t0002 a0028c0034t0002 a0029c0041t0002 a0036c0032t0002	a0003c0003t0002g0078 a0003c0003t0002g0079 a0003c0003t0002g0081 others(50): Show a0003c0003t0002g0078 a0003c0003t0002g0079 a0003c0003t0002g0081 a0003c0003t0002g0082 a0003c0003t0002g0083 a0003c0003t0002g0084 a0003c0003t0002g0085 a0003c0003t0002g0086 a0003c0003t0002g0089 a0003c0003t0002g0090 a0003c0003t0002g0092 a0003c0003t0002g0093 a0003c0003t0002g0094 a0003c0003t0002g0095 a0003c0003t0002g0096 a0003c0003t0002g0097 a0003c0003t0002g0101 a0003c0003t0002g0102 a0003c0003t0002g0105 a0003c0003t0002g0106 a0003c0003t0002g0108 a0003c0003t0002g0109 a0003c0003t0002g0112 a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0115 a0003c0003t0002g0116 a0003c0003t0002g0117 a0003c0003t0002g0118 a0003c0003t0002g0119 a0003c0003t0002g0120 a0003c0003t0002g0121 a0003c0003t0002g0125 a0003c0003t0002g0135 a0003c0003t0002g0136 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0006g0146 a0003c0042t0002g0111 a0003c0051t0002g0143 a0012c0012t0002g0294 a0012c0012t0002g0303 a0012c0012t0002g0311 a0012c0012t0002g0314 a0012c0012t0002g0316 a0012c0012t0002g0345 a0013c0016t0002g0016 a0013c0016t0002g0018 a0013c0016t0002g0049 a0013c0016t0002g0052 a0028c0034t0002g0008 a0029c0041t0002g0080 a0036c0032t0002g0223	53	352	0.1506	0	c.263 others(4): Show c.2639C>A	p.Ser others(4): Show p.Ser880*	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	11/12	2665/3270	2639/2847	880/948		chr8	TogoVar
ZFYVE19_chr15_40802089_40820084	40807701	T T	TGGGGC TGGGGC	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00544.hp2 HG00558.hp1 others(115): Show HG00099.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01123.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01361.hp1 HG01496.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03017.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 NA18906.hp2 NA18940.hp2 NA18944.hp1 NA18948.hp2 NA18953.hp2 NA18960.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18969.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18989.hp2 NA18993.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19070.hp1 NA19078.hp1 NA19080.hp1 NA19085.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0002 a0005 a0006 others(1): Show a0002 a0005 a0006 a0008	a0002c0002 a0002c0016 a0002c0017 others(3): Show a0002c0002 a0002c0016 a0002c0017 a0005c0005 a0006c0015 a0008c0008	a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 others(8): Show a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 a0002c0002t0014 a0002c0002t0015 a0002c0016t0003 a0002c0017t0003 a0005c0005t0004 a0005c0005t0007 a0006c0015t0003 a0008c0008t0003	a0002c0002t0003g0002 a0002c0002t0003g0007 a0002c0002t0003g0011 others(23): Show a0002c0002t0003g0002 a0002c0002t0003g0007 a0002c0002t0003g0011 a0002c0002t0003g0020 a0002c0002t0003g0021 a0002c0002t0003g0030 a0002c0002t0003g0033 a0002c0002t0003g0035 a0002c0002t0003g0037 a0002c0002t0005g0015 a0002c0002t0005g0029 a0002c0002t0005g0034 a0002c0002t0005g0036 a0002c0002t0005g0038 a0002c0002t0008g0019 a0002c0002t0014g0002 a0002c0002t0015g0002 a0002c0016t0003g0002 a0002c0017t0003g0032 a0005c0005t0004g0010 a0005c0005t0004g0022 a0005c0005t0004g0023 a0005c0005t0004g0039 a0005c0005t0007g0016 a0006c0015t0003g0031 a0008c0008t0003g0002	118	382	0.3089	5	c.118 others(12): Show c.118_122dupGGGGC	p.Arg others(4): Show p.Arg48fs	ZFYVE19	ENSG00000166140.17	transcript	ENST00000355341.8	protein_coding	1/11	624/2775	123/1416	41/471	INFO_REALIGN_3_PRIME	chr15	TogoVar
ZKSCAN4_chr6_28236697_28257269	28247094	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	420	0.0024	0	c.655 others(5): Show c.655-2A>G		ZKSCAN4	ENSG00000187626.9	transcript	ENST00000377294.3	protein_coding	3/4					chr6	TogoVar
ZNF185_chrX_152893067_152978474	152922181	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0147 a0004c0008t0002g0147	1	260	0.0039	1	c.667 others(4): Show c.667dupG	p.Val others(5): Show p.Val223fs	ZNF185	ENSG00000147394.20	transcript	ENST00000695776.1	protein_coding	11/25	885/4587	668/2169	223/722	INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF185_chrX_152893067_152978474	152928614	AC AC	A A	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0147 a0004c0008t0002g0147	1	260	0.0039	-1	c.873 others(4): Show c.873delC	p.Arg others(5): Show p.Arg292fs	ZNF185	ENSG00000147394.20	transcript	ENST00000695776.1	protein_coding	13/25	1090/4587	873/2169	291/722	INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF185_chrX_152893067_152978474	152928626	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0147 a0004c0008t0002g0147	1	260	0.0039	1	c.883 others(4): Show c.883dupC	p.Leu others(5): Show p.Leu295fs	ZNF185	ENSG00000147394.20	transcript	ENST00000695776.1	protein_coding	13/25	1101/4587	884/2169	295/722	INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF185_chrX_152893067_152978474	152931751	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0147 a0004c0008t0002g0147	1	260	0.0039	-1	c.100 others(5): Show c.1000delG	p.Ala others(5): Show p.Ala334fs	ZNF185	ENSG00000147394.20	transcript	ENST00000695776.1	protein_coding	14/25	1217/4587	1000/2169	334/722	INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF185_chrX_152893067_152978474	152932881	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0147 a0004c0008t0002g0147	1	260	0.0039	1	c.103 others(5): Show c.1032dupA	p.Gln others(5): Show p.Gln345fs	ZNF185	ENSG00000147394.20	transcript	ENST00000695776.1	protein_coding	15/25	1250/4587	1033/2169	345/722	INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF316_chr7_6632318_6663279	6653275	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG02056.hp2 HG02080.hp2 NA18941.hp2 others(3): Show HG02056.hp2 HG02080.hp2 NA18941.hp2 NA18965.hp2 NA18968.hp1 NA19083.hp2	a0011 a0012 a0016 others(1): Show a0011 a0012 a0016 a0019	a0011c0013 a0012c0015 a0016c0023 others(1): Show a0011c0013 a0012c0015 a0016c0023 a0019c0026	a0011c0013t0002 a0011c0013t0012 a0012c0015t0003 others(3): Show a0011c0013t0002 a0011c0013t0012 a0012c0015t0003 a0012c0015t0017 a0016c0023t0017 a0019c0026t0004	a0011c0013t0002g0175 a0011c0013t0012g0003 a0012c0015t0003g0001 others(3): Show a0011c0013t0002g0175 a0011c0013t0012g0003 a0012c0015t0003g0001 a0012c0015t0017g0036 a0016c0023t0017g0004 a0019c0026t0004g0019	6	422	0.0142	1	c.168 others(5): Show c.1681dupG	p.Val others(5): Show p.Val561fs	ZNF316	ENSG00000205903.7	transcript	ENST00000382252.6	protein_coding	9/9	2242/7243	1682/3015	561/1004	INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF316_chr7_6632318_6663279	6653564	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00597.hp2 HG01192.hp1 HG01934.hp2 others(5): Show HG00597.hp2 HG01192.hp1 HG01934.hp2 HG02280.hp1 HG02615.hp2 HG03927.hp1 NA18965.hp1 NA18993.hp1	a0009 a0013 a0017 others(1): Show a0009 a0013 a0017 a0020	a0009c0014 a0009c0019 a0013c0018 others(2): Show a0009c0014 a0009c0019 a0013c0018 a0017c0024 a0020c0039	a0009c0014t0002 a0009c0014t0074 a0009c0019t0002 others(4): Show a0009c0014t0002 a0009c0014t0074 a0009c0019t0002 a0013c0018t0001 a0013c0018t0003 a0017c0024t0087 a0020c0039t0002	a0009c0014t0002g0016 a0009c0014t0074g0172 a0009c0019t0002g0030 others(5): Show a0009c0014t0002g0016 a0009c0014t0074g0172 a0009c0019t0002g0030 a0009c0019t0002g0057 a0013c0018t0001g0002 a0013c0018t0003g0015 a0017c0024t0087g0004 a0020c0039t0002g0061	8	422	0.0190	1	c.197 others(5): Show c.1972dupG	p.Ala others(5): Show p.Ala658fs	ZNF316	ENSG00000205903.7	transcript	ENST00000382252.6	protein_coding	9/9	2533/7243	1973/3015	658/1004	INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF444_chr19_56136287_56165893	56159891	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01496.hp2 NA18963.hp1 NA18965.hp1 others(3): Show HG01496.hp2 NA18963.hp1 NA18965.hp1 NA18974.hp1 NA18978.hp1 NA19059.hp1	a0003 a0003	a0003c0006 a0003c0008 a0003c0014 a0003c0006 a0003c0008 a0003c0014	a0003c0006t0001 a0003c0006t0002 a0003c0008t0003 others(2): Show a0003c0006t0001 a0003c0006t0002 a0003c0008t0003 a0003c0008t0007 a0003c0014t0001	a0003c0006t0001g0001 a0003c0006t0001g0127 a0003c0006t0002g0012 others(3): Show a0003c0006t0001g0001 a0003c0006t0001g0127 a0003c0006t0002g0012 a0003c0008t0003g0155 a0003c0008t0007g0119 a0003c0014t0001g0111	6	416	0.0144	1	c.676 others(4): Show c.676dupC	p.Arg others(5): Show p.Arg226fs	ZNF444	ENSG00000167685.15	transcript	ENST00000337080.8	protein_coding	5/5	944/1943	677/984	226/327	INFO_REALIGN_3_PRIME	chr19	TogoVar

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