Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
HSD17B2_chr16_82030253_82103534	82090302	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	366	0.0027	17	c.665 others(32): Show c.665-582_665-566dupTTTTTTTTTTTTTTTTT		HSD17B2	ENSG00000086696.11	transcript	ENST00000199936.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
HSD17B3_chr9_96230306_96307176	96290456	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0264 a0003c0003t0004g0264	1	374	0.0027	17	c.201 others(34): Show c.201+7943_201+7959dupAAAAAAAAAAAAAAAAA		HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10						chr9	TogoVar
HSDL1_chr16_84117141_84150177	84141090	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp2 HG03579.hp1 others(2): Show HG02965.hp1 HG02965.hp2 HG03579.hp1 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0030 a0001c0001t0008 a0001c0001t0030	a0001c0001t0008g0228 a0001c0001t0008g0245 a0001c0001t0008g0247 others(2): Show a0001c0001t0008g0228 a0001c0001t0008g0245 a0001c0001t0008g0247 a0001c0001t0008g0248 a0001c0001t0030g0246	5	448	0.0112	17	c.-69 others(34): Show c.-69+3989_-69+3990insTTTTTTTTTTTTTTTTT		HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding	1/5						chr16	TogoVar
HSDL1_chr16_84117141_84150177	84141099	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0194 a0002c0002t0003g0194	1	448	0.0022	17	c.-69 others(34): Show c.-69+3980_-69+3981insGTTTTTTTTTTTTTTTT		HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding	1/5						chr16	TogoVar
HSDL1_chr16_84117141_84150177	84148596	C C	CTCTCTCT others(10): Show CTCTCTCTCTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0210 a0002c0002t0026g0210	1	448	0.0022	17	c.-35 others(28): Show c.-3586_-3585insAAAAAAAAAGAGAGAGA		HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding					3420		chr16	TogoVar
HSDL1_chr16_84117141_84150177	84148596	C C	CTCTCTTT others(10): Show CTCTCTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02486.hp1 HG01433.hp2 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0048 a0002c0002t0005g0049 a0002c0002t0005g0048 a0002c0002t0005g0049	2	448	0.0045	17	c.-35 others(28): Show c.-3586_-3585insAAAAAAAAAAAAAGAGA		HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding					3420		chr16	TogoVar
HSDL2_chr9_112375108_112477405	112384243	T T	TTAGTAAA others(10): Show TTAGTAAATTAAACTGTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02647.hp2 others(5): Show HG01109.hp2 HG01891.hp1 HG02647.hp2 HG02886.hp2 HG02922.hp1 NA19240.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0185 a0001c0001t0001g0224 a0001c0001t0001g0228 others(5): Show a0001c0001t0001g0185 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227	8	366	0.0219	17	c.17+ others(32): Show c.17+4063_17+4064insTAGTAAATTAAACTGTA		HSDL2	ENSG00000119471.15	transcript	ENST00000398805.8	protein_coding	1/10						chr9	TogoVar
HSF4_chr16_67159745_67174941	67172440	G G	GTCTCAAC others(10): Show GTCTCAACTAAAAACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	266	0.0038	17	c.26 others(28): Show c.2655_*2656insTCTCAACTAAAAACACA		HSF4	ENSG00000102878.18	transcript	ENST00000521374.6	protein_coding					2500		chr16	TogoVar
HSFX1_chrX_149769068_149781867	149775020	G G	GTCCATCT others(10): Show GTCCATCTGAGTTTTCGT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0009 a0004c0006t0001g0009	1	253	0.0040	17	c.347 others(24): Show c.347_348insAGTTTTCGTTCCATCTG	p.Trp others(5): Show p.Trp116fs	HSFX1	ENSG00000171116.7	transcript	ENST00000370416.4	protein_coding	1/2	962/1963	348/1272	116/423		INFO_REALIGN_3_PRIME	chrX	TogoVar
HSP90B1_chr12_103925410_103952926	103939238	C C	CACAGACA others(10): Show CACAGACACACGCCACCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(341): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.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 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0002c0003 a0002c0004 a0003c0006 a0005c0013 a0006c0014 a0007c0011 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0005t0001 a0001c0008t0001 a0001c0008t0004 a0002c0003t0001 a0002c0004t0001 a0003c0006t0001 a0005c0013t0001 a0006c0014t0001 a0007c0011t0001 a0008c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0024 others(160): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0002g0006 a0001c0001t0002g0014 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0107 a0001c0001t0003g0013 a0001c0001t0003g0063 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0094 a0001c0001t0004g0097 a0001c0001t0004g0110 a0001c0001t0004g0124 a0001c0001t0004g0132 a0001c0001t0004g0166 a0001c0001t0004g0170 a0001c0001t0004g0184 a0001c0001t0005g0104 a0001c0001t0005g0108 a0001c0001t0005g0109 a0001c0001t0006g0013 a0001c0001t0007g0099 a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0015 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0048 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0071 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0128 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0159 a0001c0002t0001g0164 a0001c0002t0001g0167 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0177 a0001c0002t0001g0186 a0001c0002t0001g0189 a0001c0002t0003g0062 a0001c0002t0003g0197 a0001c0002t0005g0105 a0001c0002t0005g0106 a0001c0005t0001g0017 a0001c0005t0001g0113 a0001c0005t0001g0136 a0001c0008t0001g0140 a0001c0008t0004g0045 a0002c0003t0001g0004 a0002c0003t0001g0016 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0021 a0002c0003t0001g0023 a0002c0003t0001g0031 a0002c0003t0001g0043 a0002c0003t0001g0044 a0002c0003t0001g0049 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0114 a0002c0003t0001g0115 a0002c0003t0001g0133 a0002c0003t0001g0135 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0141 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0144 a0002c0003t0001g0145 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0148 a0002c0003t0001g0149 a0002c0004t0001g0012 a0002c0004t0001g0041 a0002c0004t0001g0095 a0002c0004t0001g0098 a0002c0004t0001g0174 a0002c0004t0001g0185 a0002c0004t0001g0199 a0002c0004t0001g0205 a0003c0006t0001g0009 a0003c0006t0001g0121 a0005c0013t0001g0139 a0006c0014t0001g0134 a0007c0011t0001g0033 a0008c0012t0001g0004	344	458	0.7511	17	c.976 others(32): Show c.976-270_976-254dupACAGACACACGCCACCA		HSP90B1	ENSG00000166598.16	transcript	ENST00000299767.10	protein_coding	7/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
HSP90B1_chr12_103925410_103952926	103939246	C C	CACGCCAC others(10): Show CACGCCACCAACAGACAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00597.hp1 others(80): Show HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00673.hp1 HG01081.hp2 HG01123.hp2 HG01168.hp2 HG01516.hp1 HG01884.hp1 HG01975.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02886.hp2 HG02895.hp1 HG03017.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18952.hp2 NA18962.hp1 NA18964.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA19001.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19060.hp2 NA19066.hp1 NA19077.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20752.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0015 a0009c0010 a0001c0001 a0001c0015 a0009c0010	a0001c0001t0001 a0001c0001t0008 a0001c0015t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0015t0001 a0009c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0037 others(30): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0093 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0008g0059 a0001c0015t0001g0001 a0009c0010t0001g0001	83	458	0.1812	17	c.976 others(32): Show c.976-254_976-253insACAGACAGACGCCACCA		HSP90B1	ENSG00000166598.16	transcript	ENST00000299767.10	protein_coding	7/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
HSP90B1_chr12_103925410_103952926	103948040	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 NA18987.hp2 NA19056.hp2 HG03927.hp2 NA18987.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0057 a0001c0001t0001g0093 a0001c0001t0001g0038 a0001c0001t0001g0057 a0001c0001t0001g0093	3	458	0.0066	17	c.37 others(26): Show c.378_*379insTTTTTTTTTTTTTTTTT		HSP90B1	ENSG00000166598.16	transcript	ENST00000299767.10	protein_coding					115		chr12	TogoVar
HSPA12A_chr10_116666192_116747566	116696002	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01192.hp2 HG01257.hp1 others(9): Show HG00280.hp1 HG01192.hp2 HG01257.hp1 HG02258.hp1 HG02615.hp2 HG02622.hp1 HG02723.hp1 HG02897.hp2 HG02922.hp2 HG03225.hp2 HG04115.hp1 NA19010.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0026 a0003c0009t0027	a0001c0001t0001g0018 a0001c0001t0002g0150 a0001c0001t0002g0169 others(9): Show a0001c0001t0001g0018 a0001c0001t0002g0150 a0001c0001t0002g0169 a0001c0001t0004g0091 a0001c0001t0005g0008 a0001c0001t0005g0017 a0001c0001t0005g0106 a0001c0001t0006g0160 a0001c0001t0008g0273 a0001c0001t0013g0140 a0001c0001t0026g0119 a0003c0009t0027g0098	12	320	0.0375	17	c.546 others(34): Show c.546+2616_546+2632dupTTTTTTTTTTTTTTTTT		HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	5/11						chr10	TogoVar
HSPA4L_chr4_127777322_127845733	127841971	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0018 a0001c0001t0018g0018	1	340	0.0029	17	c.90 others(28): Show c.9097_*9098insAAAAAAAAAAAAAAAAA		HSPA4L	ENSG00000164070.12	transcript	ENST00000296464.9	protein_coding					1239		chr4	TogoVar
HSPA9_chr5_138548756_138580401	138566991	G G	GGTAACTC others(10): Show GGTAACTCACCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0103 a0001c0003t0001g0103	1	302	0.0033	17	c.872 others(26): Show c.872_879+9dupAGAGAGAGGTGAGTTAC		HSPA9	ENSG00000113013.16	transcript	ENST00000297185.9	protein_coding	8/16						chr5	TogoVar
HSPBAP1_chr3_122734999_122798831	122779512	A A	ATTTATTT others(10): Show ATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	350	0.0029	17	c.65- others(32): Show c.65-1607_65-1606insATAAATAAATAAATAAA		HSPBAP1	ENSG00000169087.11	transcript	ENST00000306103.3	protein_coding	1/7						chr3	TogoVar
HSPG2_chr1_21817244_21942310	21863060	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03942.hp1 HG03579.hp2 HG03942.hp1	a0024 a0039 a0024 a0039	a0024c0033 a0039c0041 a0024c0033 a0039c0041	a0024c0033t0005 a0039c0041t0002 a0024c0033t0005 a0039c0041t0002	a0024c0033t0005g0135 a0039c0041t0002g0175 a0024c0033t0005g0135 a0039c0041t0002g0175	2	310	0.0065	17	c.474 others(34): Show c.4741-962_4741-946dupTTTTTTTTTTTTTTTTT		HSPG2	ENSG00000142798.20	transcript	ENST00000374695.8	protein_coding	37/96						chr1	TogoVar
HSPH1_chr13_31129973_31166904	31166224	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	396	0.0025	17	c.-46 others(28): Show c.-4643_-4642insACACACACACACACACA		HSPH1	ENSG00000120694.20	transcript	ENST00000320027.10	protein_coding					4321		chr13	TogoVar
HTR2C_chrX_114579086_114915061	114741524	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	176	0.0057	17	c.349 others(34): Show c.349+9926_349+9942dupAAAAAAAAAAAAAAAAA		HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chrX	TogoVar
HTT_chr4_3069681_3248957	3074004	C C	CTCCATGG others(10): Show CTCCATGGCCCCGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02895.hp1 HG02897.hp2 others(3): Show HG01109.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03098.hp1 NA20129.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0003 a0007c0007t0003	a0007c0007t0003g0023 a0007c0007t0003g0024 a0007c0007t0003g0025 others(3): Show a0007c0007t0003g0023 a0007c0007t0003g0024 a0007c0007t0003g0025 a0007c0007t0003g0026 a0007c0007t0003g0027 a0007c0007t0003g0028	6	294	0.0204	17	c.-82 others(26): Show c.-822_-821insTCCATGGCCCCGCCCCG		HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding					676		chr4	TogoVar
HTT_chr4_3069681_3248957	3074307	A A	ACCACGCC others(10): Show ACCACGCCCCCCGCATCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0020 a0020	a0020c0052 a0020c0052	a0020c0052t0003 a0020c0052t0003	a0020c0052t0003g0292 a0020c0052t0003g0292	1	294	0.0034	17	c.-51 others(26): Show c.-519_-518insCCACGCCCCCCGCATCG		HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding					373		chr4	TogoVar
HTT_chr4_3069681_3248957	3074876	C C	CAGCAGCA others(10): Show CAGCAGCAGCAGCAGCAG	frameshift_variant frameshift_variant	HIGH	HG02055.hp2 HG02055.hp2	a0092 a0092	a0092c0044 a0092c0044	a0092c0044t0015 a0092c0044t0015	a0092c0044t0015g0003 a0092c0044t0015g0003	1	294	0.0034	17	c.51_ others(22): Show c.51_52insAGCAGCAGCAGCAGCAG	p.Gln others(4): Show p.Gln18fs	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	197/13472	52/9429	18/3142			chr4	TogoVar
HTT_chr4_3069681_3248957	3093905	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0020 a0020	a0020c0052 a0020c0052	a0020c0052t0003 a0020c0052t0003	a0020c0052t0003g0292 a0020c0052t0003g0292	1	294	0.0034	17	c.348 others(34): Show c.348-5361_348-5345dupTTTTTTTTTTTTTTTTT		HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	2/66					INFO_REALIGN_3_PRIME	chr4	TogoVar
HTT_chr4_3069681_3248957	3241754	G G	GAAAGGGA others(10): Show GAAAGGGAGCCCCTGCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00642.hp1 others(54): Show HG00323.hp2 HG00639.hp1 HG00642.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01433.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp2 HG02055.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02523.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp2 NA19240.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp2	a0001 a0007 a0010 others(25): Show a0001 a0007 a0010 a0012 a0014 a0017 a0019 a0020 a0022 a0023 a0024 a0026 a0036 a0042 a0043 a0046 a0048 a0049 a0050 a0061 a0068 a0069 a0072 a0075 a0079 a0080 a0086 a0090	a0001c0003 a0007c0007 a0007c0053 others(32): Show a0001c0003 a0007c0007 a0007c0053 a0010c0009 a0010c0056 a0012c0012 a0012c0077 a0014c0014 a0017c0018 a0019c0020 a0020c0052 a0020c0079 a0020c0084 a0022c0023 a0023c0103 a0024c0046 a0024c0047 a0026c0026 a0036c0107 a0036c0108 a0042c0048 a0043c0050 a0046c0055 a0048c0057 a0049c0063 a0050c0065 a0061c0076 a0068c0087 a0069c0093 a0072c0096 a0075c0094 a0079c0106 a0080c0110 a0086c0118 a0090c0126	a0001c0003t0003 a0007c0007t0003 a0007c0053t0003 others(34): Show a0001c0003t0003 a0007c0007t0003 a0007c0053t0003 a0010c0009t0003 a0010c0056t0007 a0012c0012t0003 a0012c0077t0003 a0014c0014t0003 a0014c0014t0010 a0017c0018t0003 a0019c0020t0007 a0019c0020t0023 a0020c0052t0003 a0020c0079t0003 a0020c0084t0003 a0022c0023t0003 a0023c0103t0003 a0024c0046t0008 a0024c0047t0008 a0026c0026t0003 a0036c0107t0018 a0036c0108t0018 a0042c0048t0008 a0043c0050t0010 a0046c0055t0011 a0048c0057t0003 a0049c0063t0011 a0050c0065t0003 a0061c0076t0003 a0068c0087t0031 a0069c0093t0003 a0072c0096t0003 a0075c0094t0003 a0079c0106t0003 a0080c0110t0003 a0086c0118t0003 a0090c0126t0003	a0001c0003t0003g0115 a0007c0007t0003g0023 a0007c0007t0003g0024 others(54): Show a0001c0003t0003g0115 a0007c0007t0003g0023 a0007c0007t0003g0024 a0007c0007t0003g0025 a0007c0007t0003g0026 a0007c0007t0003g0027 a0007c0007t0003g0028 a0007c0053t0003g0104 a0010c0009t0003g0276 a0010c0009t0003g0277 a0010c0009t0003g0288 a0010c0009t0003g0289 a0010c0009t0003g0291 a0010c0056t0007g0200 a0012c0012t0003g0087 a0012c0012t0003g0089 a0012c0012t0003g0095 a0012c0012t0003g0096 a0012c0077t0003g0094 a0014c0014t0003g0014 a0014c0014t0003g0015 a0014c0014t0003g0021 a0014c0014t0010g0011 a0017c0018t0003g0091 a0017c0018t0003g0092 a0017c0018t0003g0097 a0019c0020t0007g0088 a0019c0020t0007g0102 a0019c0020t0023g0100 a0020c0052t0003g0292 a0020c0079t0003g0186 a0020c0084t0003g0093 a0022c0023t0003g0013 a0022c0023t0003g0016 a0022c0023t0003g0019 a0023c0103t0003g0029 a0024c0046t0008g0257 a0024c0047t0008g0258 a0026c0026t0003g0017 a0026c0026t0003g0022 a0036c0107t0018g0065 a0036c0108t0018g0066 a0042c0048t0008g0259 a0043c0050t0010g0012 a0046c0055t0011g0204 a0048c0057t0003g0098 a0049c0063t0011g0203 a0050c0065t0003g0286 a0061c0076t0003g0099 a0068c0087t0031g0101 a0069c0093t0003g0020 a0072c0096t0003g0086 a0075c0094t0003g0064 a0079c0106t0003g0074 a0080c0110t0003g0031 a0086c0118t0003g0067 a0090c0126t0003g0018	57	294	0.1939	17	c.17 others(28): Show c.1708_*1709insGCTCAAAGGGAGCCCCT		HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	67/67				1709	INFO_REALIGN_3_PRIME	chr4	TogoVar
HUNK_chr21_31868020_32009064	31900446	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	328	0.0031	17	c.262 others(36): Show c.262-24022_262-24021insCACACACACACACACAC		HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding	1/10						chr21	TogoVar
HYAL1_chr3_50294893_50308574	50304296	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	17	c.-85 others(26): Show c.-856_-855insATATATATATTTTTTTT		HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding					723		chr3	TogoVar
HYAL1_chr3_50294893_50308574	50304296	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA19078.hp2 NA18995.hp2 NA19078.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0004 a0001c0001t0001g0001 a0002c0002t0001g0004	2	384	0.0052	17	c.-85 others(26): Show c.-856_-855insATATATATATATTTTTT		HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding					723		chr3	TogoVar
HYAL1_chr3_50294893_50308574	50304296	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	17	c.-85 others(26): Show c.-856_-855insATATATATATATATTTT		HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding					723		chr3	TogoVar
HYAL1_chr3_50294893_50308574	50304296	A A	ATATATAT others(10): Show ATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	17	c.-85 others(26): Show c.-856_-855insATATATATATATATATA		HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding					723		chr3	TogoVar
HYAL2_chr3_50312808_50327745	50312980	G G	GGGGGAGG others(10): Show GGGGGAGGGGGAGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02970.hp1 NA18906.hp2 HG01891.hp1 HG02970.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	3	354	0.0085	17	c.51 others(28): Show c.5148_*5149insTCCCCCTCCCCCTCCCC		HYAL2	ENSG00000068001.14	transcript	ENST00000357750.9	protein_coding					4827		chr3	TogoVar
HYAL2_chr3_50312808_50327745	50315844	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(13): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp2 HG01978.hp1 HG01981.hp1 HG02056.hp2 NA18612.hp2 NA18943.hp2 NA18944.hp1 NA18948.hp1 NA18974.hp1 NA19011.hp2 NA19062.hp2 NA19065.hp2 NA19072.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0009 a0002c0002t0001g0001 a0002c0002t0001g0009	16	354	0.0452	17	c.22 others(28): Show c.2284_*2285insAAAAAAAAAAAAAAAAA		HYAL2	ENSG00000068001.14	transcript	ENST00000357750.9	protein_coding					1963		chr3	TogoVar
HYAL3_chr3_50287832_50304405	50304296	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	17	c.-51 others(28): Show c.-5102_-5101insATATATATTTTTTTTTT		HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding					4892		chr3	TogoVar
HYAL3_chr3_50287832_50304405	50304296	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	17	c.-51 others(28): Show c.-5102_-5101insATATATATATTTTTTTT		HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding					4892		chr3	TogoVar
HYAL3_chr3_50287832_50304405	50304296	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA19078.hp1 NA18995.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	378	0.0053	17	c.-51 others(28): Show c.-5102_-5101insATATATATATATTTTTT		HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding					4892		chr3	TogoVar
HYAL3_chr3_50287832_50304405	50304296	A A	ATATATAT others(10): Show ATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	17	c.-51 others(28): Show c.-5102_-5101insATATATATATATATATA		HYAL3	ENSG00000186792.17	transcript	ENST00000336307.6	protein_coding					4892		chr3	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0001 a0015c0019t0001	a0015c0019t0001g0121 a0015c0019t0001g0121	1	174	0.0058	17	c.884 others(34): Show c.8849+803_8849+804insAAAAAAAAATATATATA		HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85						chr16	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATATAT others(10): Show ATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	174	0.0058	17	c.884 others(34): Show c.8849+803_8849+804insAAAAAAAAAAATATATA		HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85						chr16	TogoVar
HYDIN_chr16_70797084_71235722	70904478	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	174	0.0058	17	c.851 others(34): Show c.8517-431_8517-415dupAAAAAAAAAAAAAAAAA		HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	50/85						chr16	TogoVar
HYDIN_chr16_70797084_71235722	70904518	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0002 a0001c0051t0002	a0001c0051t0002g0001 a0001c0051t0002g0001	1	174	0.0058	17	c.851 others(34): Show c.8517-455_8517-454insCAAAAAAAAAAAAAAAA		HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	50/85						chr16	TogoVar
HYDIN_chr16_70797084_71235722	70931210	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0035 a0035	a0035c0087 a0035c0087	a0035c0087t0010 a0035c0087t0010	a0035c0087t0010g0135 a0035c0087t0010g0135	1	174	0.0058	17	c.715 others(36): Show c.7158+4725_7158+4741dupAAAAAAAAAAAAAAAAA		HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	45/85						chr16	TogoVar
HYKK_chr15_78502577_78541645	78504595	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01081.hp1 HG01106.hp2 others(30): Show HG00741.hp1 HG01081.hp1 HG01106.hp2 HG01243.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02622.hp1 HG03654.hp2 HG03710.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18942.hp1 NA18980.hp1 NA18981.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp2 NA19001.hp1 NA19007.hp1 NA19009.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19078.hp1 NA19079.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0024 a0001c0001t0026 a0001c0001t0062 a0001c0001t0071 a0001c0001t0074 a0001c0002t0002 a0001c0002t0018 a0002c0003t0003 a0003c0004t0005 a0004c0009t0078	a0001c0001t0001g0204 a0001c0001t0001g0323 a0001c0001t0003g0001 others(29): Show a0001c0001t0001g0204 a0001c0001t0001g0323 a0001c0001t0003g0001 a0001c0001t0003g0225 a0001c0001t0003g0240 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0256 a0001c0001t0003g0348 a0001c0001t0004g0077 a0001c0001t0004g0291 a0001c0001t0005g0032 a0001c0001t0005g0300 a0001c0001t0005g0339 a0001c0001t0007g0025 a0001c0001t0007g0218 a0001c0001t0009g0015 a0001c0001t0009g0067 a0001c0001t0015g0310 a0001c0001t0015g0330 a0001c0001t0015g0334 a0001c0001t0024g0057 a0001c0001t0026g0251 a0001c0001t0062g0040 a0001c0001t0071g0049 a0001c0001t0074g0026 a0001c0002t0002g0167 a0001c0002t0018g0116 a0002c0003t0003g0003 a0002c0003t0003g0255 a0003c0004t0005g0305 a0004c0009t0078g0241	33	412	0.0801	17	c.-30 others(28): Show c.-3082_-3081insAAAAAAAAAAAAAAAAA		HYKK	ENSG00000188266.14	transcript	ENST00000388988.9	protein_coding					2981		chr15	TogoVar
HYPK_chr15_43795599_43809427	43802569	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp1 NA18943.hp1 NA18967.hp2 others(1): Show HG01361.hp1 NA18943.hp1 NA18967.hp2 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0034 a0002c0002t0019 a0002c0002t0034	a0002c0002t0019g0001 a0002c0002t0034g0001 a0002c0002t0019g0001 a0002c0002t0034g0001	4	356	0.0112	17	c.76 others(26): Show c.769_*785dupAAAAAAAAAAAAAAAAA		HYPK	ENSG00000242028.8	transcript	ENST00000442995.4	protein_coding	4/4				786	INFO_REALIGN_3_PRIME	chr15	TogoVar
IAH1_chr2_9469551_9494742	9489259	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0242 a0001c0001t0063g0242	1	342	0.0029	17	c.93 others(26): Show c.938_*954dupTTTTTTTTTTTTTTTTT		IAH1	ENSG00000134330.19	transcript	ENST00000497473.6	protein_coding	6/6				955	INFO_REALIGN_3_PRIME	chr2	TogoVar
IARS1_chr9_92205207_92298697	92252764	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	338	0.0030	17	c.222 others(34): Show c.2229+581_2229+597dupTTTTTTTTTTTTTTTTT		IARS1	ENSG00000196305.19	transcript	ENST00000443024.7	protein_coding	21/33						chr9	TogoVar
ICA1_chr7_8108184_8267167	8174771	A A	AAAAAAAA others(10): Show AAAAAAAAACAAAAAACC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01433.hp2 HG02080.hp1 others(5): Show HG00642.hp2 HG01433.hp2 HG02080.hp1 HG02145.hp2 HG02148.hp1 HG02602.hp1 HG03654.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0006t0008	a0001c0001t0001g0008 a0001c0001t0001g0041 a0001c0001t0001g0139 others(5): Show a0001c0001t0001g0008 a0001c0001t0001g0041 a0001c0001t0001g0139 a0001c0001t0003g0021 a0001c0001t0006g0032 a0001c0001t0008g0175 a0001c0001t0009g0271 a0001c0006t0008g0092	8	274	0.0292	17	c.580 others(36): Show c.580-16120_580-16119insGGTTTTTTGTTTTTTTT		ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	6/13						chr7	TogoVar
ICA1_chr7_8108184_8267167	8240209	A A	AGCAATAT others(10): Show AGCAATATTTGCTGTTCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(118): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01074.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01433.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03516.hp2 HG03654.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp2 NA18986.hp1 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19074.hp2 NA19079.hp2 NA19084.hp2 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0011 a0001c0003t0003 a0001c0004t0004 a0001c0008t0003	a0001c0001t0001g0017 a0001c0001t0001g0111 a0001c0001t0001g0116 others(118): Show a0001c0001t0001g0017 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0002g0023 a0001c0001t0002g0112 a0001c0001t0002g0147 a0001c0001t0002g0159 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0181 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0211 a0001c0001t0002g0215 a0001c0001t0002g0253 a0001c0001t0002g0272 a0001c0001t0003g0095 a0001c0001t0003g0110 a0001c0001t0003g0113 a0001c0001t0003g0134 a0001c0001t0003g0148 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0249 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0004g0018 a0001c0001t0004g0136 a0001c0001t0004g0144 a0001c0001t0004g0150 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0161 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0176 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0218 a0001c0001t0005g0091 a0001c0001t0005g0123 a0001c0001t0006g0096 a0001c0001t0006g0146 a0001c0001t0006g0178 a0001c0001t0006g0214 a0001c0001t0007g0158 a0001c0001t0007g0165 a0001c0001t0007g0174 a0001c0001t0007g0191 a0001c0001t0007g0250 a0001c0001t0008g0153 a0001c0001t0008g0175 a0001c0001t0009g0169 a0001c0001t0010g0257 a0001c0001t0012g0003 a0001c0001t0014g0002 a0001c0001t0015g0186 a0001c0002t0001g0100 a0001c0002t0001g0114 a0001c0002t0001g0182 a0001c0002t0002g0115 a0001c0002t0002g0133 a0001c0002t0002g0135 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0248 a0001c0002t0002g0255 a0001c0002t0003g0131 a0001c0002t0004g0162 a0001c0002t0005g0137 a0001c0002t0006g0216 a0001c0002t0008g0177 a0001c0002t0011g0187 a0001c0003t0003g0188 a0001c0004t0004g0254 a0001c0008t0003g0274	121	274	0.4416	17	c.-79 others(34): Show c.-79-4221_-79-4205dupAGAACAGCAAATATTGC		ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	1/13						chr7	TogoVar
ICAM5_chr19_10284952_10301778	10295904	C C	CCCAATTC others(10): Show CCCAATTCACAATGAACT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	1	432	0.0023	17	c.249 others(34): Show c.2497+304_2497+305insGAACTCCAATTCACAAT		ICAM5	ENSG00000105376.5	transcript	ENST00000221980.5	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr19	TogoVar
IDE_chr10_92446684_92579093	92552857	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01169.hp1 HG01256.hp2 others(8): Show HG00099.hp1 HG01169.hp1 HG01256.hp2 HG01258.hp2 HG01943.hp2 HG02486.hp1 HG02970.hp1 HG03471.hp1 NA18968.hp2 NA19067.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 others(8): Show a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0015g0181	11	314	0.0350	17	c.99- others(34): Show c.99-15324_99-15308dupTTTTTTTTTTTTTTTTT		IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	1/24						chr10	TogoVar
IDH3A_chr15_78144362_78176945	78158463	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0124 a0001c0002t0002g0124	1	386	0.0026	17	c.174 others(32): Show c.174+833_174+834insATATATATATATATATT		IDH3A	ENSG00000166411.14	transcript	ENST00000299518.7	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
IDH3A_chr15_78144362_78176945	78158464	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG03540.hp1 others(4): Show HG01516.hp2 HG01517.hp1 HG03540.hp1 NA18957.hp2 NA19004.hp2 NA19057.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0211 others(3): Show a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0211 a0001c0002t0001g0223 a0001c0002t0001g0228 a0001c0002t0002g0027	7	386	0.0181	17	c.174 others(32): Show c.174+833_174+834insATATATATATATATATA		IDH3A	ENSG00000166411.14	transcript	ENST00000299518.7	protein_coding	3/10						chr15	TogoVar

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