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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HHAT_chr1_210323902_210681290	210560814	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0004 a0006c0011t0004	a0006c0011t0004g0142 a0006c0011t0004g0142	1	268	0.0037	-19	c.104 others(40): Show c.1044-27065_1044-27047delAAAAAAAAAAAAAAAAAAA	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210673755	CTTATTTA others(12): Show CTTATTTATTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 homoSapiens_chm13v2.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0006 a0001c0001t0006 a0001c0002t0006	a0001c0001t0006g0108 a0001c0002t0006g0042 a0001c0001t0006g0108 a0001c0002t0006g0042	2	268	0.0075	-19	c.139 others(36): Show c.1391-523_1391-505delATTTATTTATTTATTTATT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210677349	TTTGAGAC others(12): Show TTTGAGACCAGCCTGGGCAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0225 a0001c0001t0004g0225	1	268	0.0037	-19	c.29 others(30): Show c.2971_*2989delTTGAGACCAGCCTGGGCAA	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding		1060		chr1	TogoVar
HHIPL1_chr14_99640129_99685569	99656873	AAGGAAGG others(12): Show AAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0106 a0001c0002t0002g0106	1	374	0.0027	-19	c.903 others(34): Show c.903-125_903-107delGGAAGGAAGGAAGGAAGGA	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
HHIPL2_chr1_222517264_222553104	222552222	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0311 a0002c0005t0001g0311	1	418	0.0024	-19	c.-41 others(30): Show c.-4197_-4179delTTTTTTTTTTTTTTTTTTT	HHIPL2	ENSG00000143512.13	transcript	ENST00000343410.7	protein_coding		4119		chr1	TogoVar
HHIP_chr4_144641156_144750271	144684232	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp2 HG01891.hp2 HG02630.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0036 a0002c0002t0009 a0001c0001t0036 a0002c0002t0009	a0001c0001t0036g0142 a0002c0002t0009g0134 a0001c0001t0036g0142 a0002c0002t0009g0134	2	316	0.0063	-19	c.832 others(38): Show c.832-22273_832-22255delTTTTTTTTTTTTTTTTTTT	HHIP	ENSG00000164161.10	transcript	ENST00000296575.8	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
HID1_chr17_74945742_74977759	74976724	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0115 a0001c0002t0002g0115	1	364	0.0028	-19	c.-40 others(30): Show c.-4087_-4069delATTTTTTTTTTTTTTTTTT	HID1	ENSG00000167861.16	transcript	ENST00000425042.7	protein_coding		3966		chr17	TogoVar
HIGD1C_chr12_50947544_50975607	50957938	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	380	0.0026	-19	c.95- others(34): Show c.95-3029_95-3011delTGTGTGTGTGTGTGTGTGT	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding	3/4			chr12	TogoVar
HIKESHI_chr11_86297240_86350943	86316771	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	398	0.0025	-19	c.268 others(38): Show c.268+10311_268+10329delTTTTTTTTTTTTTTTTTTT	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIVEP2_chr6_142746469_142950176	142785309	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	288	0.0035	-19	c.-52 others(38): Show c.-527-1713_-527-1695delTTTTTTTTTTTTTTTTTTT	HIVEP2	ENSG00000010818.11	transcript	ENST00000367603.8	protein_coding	2/9			chr6	TogoVar
HIVEP2_chr6_142746469_142950176	142793640	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp2 HG02965.hp2 HG02976.hp2	a0001 a0001	a0001c0012 a0001c0029 a0001c0012 a0001c0029	a0001c0012t0004 a0001c0029t0001 a0001c0012t0004 a0001c0029t0001	a0001c0012t0004g0267 a0001c0029t0001g0268 a0001c0012t0004g0267 a0001c0029t0001g0268	2	288	0.0069	-19	c.-52 others(40): Show c.-527-10044_-527-10026delAAAGAAAGAAAGAAAGAAA	HIVEP2	ENSG00000010818.11	transcript	ENST00000367603.8	protein_coding	2/9			chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722521	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(90): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02071.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02293.hp1 HG02523.hp2 HG02630.hp1 HG02717.hp2 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03669.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp2 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18991.hp1 NA18998.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp1 NA19064.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19075.hp2 NA19090.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0009 a0001c0001 a0002c0002 a0007c0009	a0001c0001t0001 a0002c0002t0001 a0007c0009t0001 a0001c0001t0001 a0002c0002t0001 a0007c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0002c0002t0001g0006 a0002c0002t0001g0017 a0007c0009t0001g0002	93	443	0.2099	-19	c.-94 others(28): Show c.-942_-924delAAAAAAAAAAAAAAAAAAA	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		912		chr6	TogoVar
HLCS_chr21_36743626_36971669	36888446	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01123.hp2 HG01169.hp2 others(7): Show HG00280.hp1 HG01123.hp2 HG01169.hp2 HG01192.hp2 HG02300.hp1 HG02647.hp1 HG04204.hp2 NA18939.hp1 NA18940.hp1 NA18984.hp1	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0008c0012 a0009c0009 a0001c0001 a0008c0012 a0009c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0090 a0001c0001t0100 a0008c0012t0035 a0009c0009t0012	a0001c0001t0001g0043 a0001c0001t0001g0072 a0001c0001t0001g0074 others(7): Show a0001c0001t0001g0043 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0003g0226 a0001c0001t0004g0058 a0001c0001t0013g0240 a0001c0001t0090g0005 a0001c0001t0100g0073 a0008c0012t0035g0069 a0009c0009t0012g0196	10	258	0.0388	-19	c.189 others(38): Show c.1892+8395_1892+8413delATATATATATATATATATA	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLCS_chr21_36743626_36971669	36895024	TGCTGCCC others(12): Show TGCTGCCCTCTTGGTGACGC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG03098.hp1 HG01515.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0032 a0001c0001t0013g0223 a0001c0001t0004g0032 a0001c0001t0013g0223	2	258	0.0078	-19	c.189 others(38): Show c.1892+1817_1892+1835delGCGTCACCAAGAGGGCAGC	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLTF_chr3_149025127_149091533	149079373	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0046 a0001c0002t0006g0046	1	404	0.0025	-19	c.229 others(36): Show c.229-3345_229-3327delTTTTTTTTTTTTTTTTTTT	HLTF	ENSG00000071794.16	transcript	ENST00000310053.10	protein_coding	2/24			chr3	TogoVar
HM13_chr20_31509442_31574543	31569729	CTCTCTCA others(12): Show CTCTCTCACCAGCTAGCACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	202	0.0050	-19	c.51 others(28): Show c.511_*529delTCTCTCACCAGCTAGCACT	HM13	ENSG00000101294.19	transcript	ENST00000398174.9	protein_coding		187		chr20	TogoVar
HMCN1_chr1_185729391_186195949	185858586	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA21309.hp2 HG02723.hp1 NA21309.hp2	a0028 a0029 a0028 a0029	a0028c0020 a0029c0022 a0028c0020 a0029c0022	a0028c0020t0002 a0029c0022t0001 a0028c0020t0002 a0029c0022t0001	a0028c0020t0002g0068 a0029c0022t0001g0092 a0028c0020t0002g0068 a0029c0022t0001g0092	2	92	0.0217	-19	c.340 others(36): Show c.340-5855_340-5837delTTTTTTTTTTTTTTTTTTT	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	2/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN1_chr1_185729391_186195949	186128981	TATGTTAA others(12): Show TATGTTAATGACATTAGTTA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	92	0.0109	-19	c.129 others(38): Show c.12904+699_12904+717delGACATTAGTTAATGTTAAT	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	83/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN2_chr9_130260760_130439123	130315200	TCCCTCCC others(12): Show TCCCTCCCCTCCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0151 a0003c0003t0001g0151	1	258	0.0039	-19	c.235 others(38): Show c.2351-4277_2351-4259delTCCCCTCCCCTCCCCTCCC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMGA2_chr12_65819483_65971291	65875589	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0191 a0001c0001t0049g0191	1	236	0.0042	-19	c.249 others(38): Show c.249+37043_249+37061delTTTTTTTTTTTTTTTTTTT	HMGA2	ENSG00000149948.14	transcript	ENST00000403681.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
HMGB3_chrX_150978335_150995771	150983487	TGAGCGCG others(12): Show TGAGCGCGCCCTGCCGCCGC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0058 a0001c0001t0004g0058	1	330	0.0030	-19	c.-6+ others(32): Show c.-6+112_-6+130delGAGCGCGCCCTGCCGCCGC	HMGB3	ENSG00000029993.15	transcript	ENST00000325307.12	protein_coding	1/4			chrX	TogoVar
HMGCL_chr1_23796885_23830429	23825731	TCCAAAAA others(12): Show TCCAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp2 others(168): Show HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG03492.hp1 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(106): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0245 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0003g0142 a0001c0001t0004g0114 a0002c0003t0001g0143 a0002c0003t0001g0144 a0002c0003t0001g0145	171	372	0.4597	-19	c.-33 others(28): Show c.-335_-317delTTTTTTTTTTTTTTTTTGG	HMGCL	ENSG00000117305.15	transcript	ENST00000374490.8	protein_coding		303		chr1	TogoVar
HMGCR_chr5_75332220_75367101	75345039	TGATGAAT others(12): Show TGATGAATGTCTTTGTAACG	T T	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	390	0.0026	-19	c.366 others(34): Show c.366-534_366-516delGATGAATGTCTTTGTAACG	HMGCR	ENSG00000113161.17	transcript	ENST00000287936.9	protein_coding	4/19			chr5	TogoVar
HMSD_chr18_63944301_63966835	63963052	TTCTTTCT others(12): Show TTCTTTCTTTCTTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0109 a0001c0001t0004g0109	1	404	0.0025	-19	c.26 others(30): Show c.2698_*2716delTCTTTCTTTCTTTTCTTTC	HMSD	ENSG00000221887.6	transcript	ENST00000408945.5	protein_coding		1218		chr18	TogoVar
HMSD_chr18_63944301_63966835	63963071	CTCTTTCT others(12): Show CTCTTTCTTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	404	0.0025	-19	c.27 others(30): Show c.2717_*2735delTCTTTCTTTCTTTCTTTCT	HMSD	ENSG00000221887.6	transcript	ENST00000408945.5	protein_coding		1237		chr18	TogoVar
HNF1B_chr17_37681431_37750059	37747243	TAATGAAG others(12): Show TAATGAAGTGTTCAGAGTAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	409	0.0024	-19	c.-23 others(30): Show c.-2378_-2360delTTACTCTGAACACTTCATT	HNF1B	ENSG00000275410.6	transcript	ENST00000617811.5	protein_coding		2185		chr17	TogoVar
HNF4A_chr20_44350699_44437845	44430597	TGAGGAAG others(12): Show TGAGGAAGAATGGTGTGGGA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(66): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp1 HG01081.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01496.hp2 HG01516.hp2 HG01891.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03209.hp2 HG03239.hp1 HG03471.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03834.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18941.hp1 NA18942.hp1 NA18948.hp1 NA18960.hp1 NA18961.hp1 NA18973.hp2 NA18977.hp2 NA18980.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19056.hp2 NA19062.hp1 NA19079.hp1 NA19079.hp2 NA20805.hp1 NA20905.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0001c0003 a0001c0009 others(3): Show a0001c0001 a0001c0003 a0001c0009 a0003c0004 a0005c0006 a0006c0007	a0001c0001t0003 a0001c0001t0009 a0001c0001t0014 others(25): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0036 a0001c0001t0041 a0001c0001t0042 a0001c0001t0048 a0001c0001t0049 a0001c0001t0057 a0001c0001t0062 a0001c0001t0064 a0001c0001t0065 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0003t0063 a0001c0009t0082 a0003c0004t0058 a0005c0006t0023 a0006c0007t0016	a0001c0001t0003g0005 a0001c0001t0003g0027 a0001c0001t0003g0028 others(66): Show a0001c0001t0003g0005 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0074 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0100 a0001c0001t0003g0112 a0001c0001t0003g0151 a0001c0001t0003g0217 a0001c0001t0003g0223 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0235 a0001c0001t0003g0246 a0001c0001t0003g0250 a0001c0001t0003g0259 a0001c0001t0003g0263 a0001c0001t0003g0265 a0001c0001t0003g0275 a0001c0001t0003g0285 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0301 a0001c0001t0009g0051 a0001c0001t0009g0125 a0001c0001t0009g0152 a0001c0001t0009g0171 a0001c0001t0009g0189 a0001c0001t0014g0087 a0001c0001t0014g0119 a0001c0001t0014g0248 a0001c0001t0014g0283 a0001c0001t0016g0178 a0001c0001t0016g0293 a0001c0001t0023g0003 a0001c0001t0023g0219 a0001c0001t0024g0194 a0001c0001t0024g0220 a0001c0001t0024g0292 a0001c0001t0026g0077 a0001c0001t0026g0214 a0001c0001t0027g0010 a0001c0001t0027g0011 a0001c0001t0036g0128 a0001c0001t0036g0280 a0001c0001t0041g0222 a0001c0001t0042g0084 a0001c0001t0048g0299 a0001c0001t0049g0009 a0001c0001t0057g0129 a0001c0001t0062g0068 a0001c0001t0064g0180 a0001c0001t0065g0206 a0001c0001t0094g0102 a0001c0001t0095g0211 a0001c0001t0096g0139 a0001c0001t0097g0310 a0001c0001t0098g0061 a0001c0001t0099g0253 a0001c0003t0063g0081 a0001c0009t0082g0279 a0003c0004t0058g0082 a0005c0006t0023g0107 a0006c0007t0016g0123	69	322	0.2143	-19	c.93 others(28): Show c.937_*955delAAGAATGGTGTGGGAGAGG	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	10/10	937	INFO_REALIGN_3_PRIME	chr20	TogoVar
HNRNPA1L2_chr13_52637431_52648773	52647392	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 NA19030.hp2 HG02922.hp2 NA19030.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0001 a0008c0010t0001 a0001c0001t0001 a0008c0010t0001	a0001c0001t0001g0000 a0008c0010t0001g0000 a0001c0001t0001g0000 a0008c0010t0001g0000	2	436	0.0046	-19	c.39 others(30): Show c.3938_*3956delTTTTTTTTTTTTTTTTTTT	HNRNPA1L2	ENSG00000139675.13	transcript	ENST00000357495.5	protein_coding		3620		chr13	TogoVar
HNRNPC_chr14_21204147_21274442	21205456	AATTTCTA others(12): Show AATTTCTAGGACTACAGACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG02015.hp2 others(6): Show HG00408.hp2 HG00423.hp2 HG02015.hp2 HG02165.hp1 HG03239.hp2 HG03831.hp1 NA18945.hp1 NA19002.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0001 a0001c0001t0002 a0001c0001t0016	a0001c0001t0001g0128 a0001c0001t0001g0206 a0001c0001t0001g0244 others(6): Show a0001c0001t0001g0128 a0001c0001t0001g0206 a0001c0001t0001g0244 a0001c0001t0001g0291 a0001c0001t0002g0015 a0001c0001t0002g0041 a0001c0001t0002g0048 a0001c0001t0002g0058 a0001c0001t0016g0045	9	388	0.0232	-19	c.57 others(30): Show c.5748_*5766delAGTCTGTAGTCCTAGAAAT	HNRNPC	ENSG00000092199.19	transcript	ENST00000553300.6	protein_coding		3690		chr14	TogoVar
HNRNPC_chr14_21204147_21274442	21222376	TTGTTTTT others(12): Show TTGTTTTTGTTTTTTTTTCC	T T	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19088.hp1 NA19079.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0302 a0001c0001t0001g0229 a0001c0001t0001g0302	2	388	0.0052	-19	c.365 others(36): Show c.365+7924_365+7942delGGAAAAAAAAACAAAAACA	HNRNPC	ENSG00000092199.19	transcript	ENST00000553300.6	protein_coding	5/8			chr14	TogoVar
HNRNPD_chr4_82347498_82378991	82349412	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02809.hp1 HG02976.hp1 others(3): Show HG02615.hp2 HG02809.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0053 a0001c0001t0007g0054 a0001c0001t0007g0055 others(3): Show a0001c0001t0007g0053 a0001c0001t0007g0054 a0001c0001t0007g0055 a0001c0001t0007g0056 a0001c0001t0007g0057 a0001c0001t0007g0058	6	332	0.0181	-19	c.47 others(30): Show c.4754_*4772delTTTTTTTTTTTTTTTTTTT	HNRNPD	ENSG00000138668.20	transcript	ENST00000313899.12	protein_coding		3085		chr4	TogoVar
HNRNPH3_chr10_68327064_68348193	68346265	TTGGGGAG others(12): Show TTGGGGAGGTGGGATGTGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	404	0.0025	-19	c.42 others(30): Show c.4212_*4230delTGGGGAGGTGGGATGTGGA	HNRNPH3	ENSG00000096746.18	transcript	ENST00000265866.12	protein_coding		3073		chr10	TogoVar
HNRNPR_chr1_23299688_23349284	23348087	GGTCTCAA others(12): Show GGTCTCAAACTCCTGACCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0273 a0001c0001t0011g0273	1	354	0.0028	-19	c.-39 others(30): Show c.-3905_-3887delGAGGTCAGGAGTTTGAGAC	HNRNPR	ENSG00000125944.22	transcript	ENST00000302271.11	protein_coding		3804		chr1	TogoVar
HNRNPUL2_chr11_62707630_62732457	62720546	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(216): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18986.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19006.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19055.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0001c0009 others(3): Show a0001c0001 a0001c0005 a0001c0009 a0001c0010 a0002c0004 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0005t0001 a0001c0009t0001 a0001c0010t0002 a0002c0004t0016 a0004c0007t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(72): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0130 a0001c0001t0002g0015 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0003g0004 a0001c0001t0003g0050 a0001c0001t0003g0065 a0001c0001t0003g0083 a0001c0001t0004g0062 a0001c0001t0006g0008 a0001c0001t0006g0019 a0001c0001t0006g0053 a0001c0001t0006g0084 a0001c0001t0007g0011 a0001c0001t0007g0074 a0001c0001t0007g0088 a0001c0001t0009g0023 a0001c0001t0009g0141 a0001c0001t0009g0142 a0001c0001t0009g0143 a0001c0001t0014g0022 a0001c0001t0019g0037 a0001c0001t0020g0038 a0001c0001t0021g0073 a0001c0001t0022g0056 a0001c0001t0023g0057 a0001c0001t0024g0049 a0001c0001t0025g0072 a0001c0001t0026g0066 a0001c0001t0029g0058 a0001c0001t0030g0059 a0001c0001t0032g0137 a0001c0001t0034g0139 a0001c0001t0035g0140 a0001c0005t0001g0070 a0001c0005t0001g0076 a0001c0009t0001g0081 a0001c0010t0002g0082 a0002c0004t0016g0025 a0004c0007t0003g0039	219	352	0.6222	-19	c.161 others(36): Show c.1612-374_1612-356delTTTTTTTTTTTTTTTTTTT	HNRNPUL2	ENSG00000214753.4	transcript	ENST00000301785.7	protein_coding	9/13			chr11	TogoVar
HOMER1_chr5_79367636_79519134	79443804	AACTCCCA others(12): Show AACTCCCATTATTAACCATG	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	290	0.0035	-19	c.387 others(36): Show c.387+3230_387+3248delCATGGTTAATAATGGGAGT	HOMER1	ENSG00000152413.15	transcript	ENST00000334082.11	protein_coding	4/8			chr5	TogoVar
HOOK3_chr8_42891978_43035535	42939653	GCTGCCGG others(12): Show GCTGCCGGGCAGAGACGCTC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0159 a0001c0001t0075g0159	1	162	0.0062	-19	c.268 others(36): Show c.268-3657_268-3639delGCCGGGCAGAGACGCTCCT	HOOK3	ENSG00000168172.9	transcript	ENST00000307602.9	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
HOPX_chr4_56642998_56686296	56685941	AATGTATT others(12): Show AATGTATTATATATTATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01168.hp2 HG01978.hp1 others(30): Show HG00438.hp1 HG01168.hp2 HG01978.hp1 HG02015.hp2 HG02109.hp2 HG02698.hp2 HG02896.hp2 HG02897.hp1 HG03239.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG04228.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18947.hp2 NA18955.hp2 NA18963.hp2 NA18965.hp2 NA18973.hp2 NA18978.hp2 NA18993.hp2 NA18998.hp1 NA19005.hp2 NA19054.hp2 NA19057.hp1 NA19066.hp1 NA19081.hp2 NA19086.hp1 NA19088.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0001 a0001c0002t0009	a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0031 others(23): Show a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0313 a0001c0002t0001g0187 a0001c0002t0009g0205	33	376	0.0878	-19	c.-47 others(30): Show c.-4789_-4771delCATATAATATATAATACAT	HOPX	ENSG00000171476.23	transcript	ENST00000420433.6	protein_coding		4646		chr4	TogoVar
HORMAD1_chr1_150693060_150725895	150725151	AGAAAACA others(12): Show AGAAAACAGCCACTAGATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	392	0.0026	-19	c.-44 others(30): Show c.-4400_-4382delATATCTAGTGGCTGTTTTC	HORMAD1	ENSG00000143452.16	transcript	ENST00000361824.7	protein_coding		4257		chr1	TogoVar
HORMAD2_chr22_30075464_30182075	30129238	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG03209.hp2 others(1): Show HG01891.hp1 HG02280.hp1 HG03209.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0060 a0001c0001t0001g0332 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0060 a0001c0001t0001g0332 a0002c0002t0001g0078	4	350	0.0114	-19	c.819 others(36): Show c.819+7026_819+7044delAAAAAAAAAAAAAAAAAGA	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HOXB13_chr17_48719763_48733750	48727492	TGTCACGG others(12): Show TGTCACGGCTGCAGGAAACC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0036 a0001c0003t0001g0036	1	426	0.0024	-19	c.602 others(34): Show c.602-468_602-450delGGTTTCCTGCAGCCGTGAC	HOXB13	ENSG00000159184.8	transcript	ENST00000290295.8	protein_coding	1/1			chr17	TogoVar
HPGDS_chr4_94293535_94347836	94340301	CTTTCTTT others(12): Show CTTTCTTTCTCTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	312	0.0032	-19	c.-10 others(36): Show c.-10+2475_-10+2493delAAAAAAAAAGAGAAAGAAA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPGDS_chr4_94293535_94347836	94340305	CTTTCTCT others(12): Show CTTTCTCTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01099.hp2 HG01891.hp1 others(3): Show HG01070.hp1 HG01099.hp2 HG01891.hp1 HG01952.hp1 HG02257.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(3): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0002g0255	6	312	0.0192	-19	c.-10 others(36): Show c.-10+2471_-10+2489delAAAAAAAAAAAAAGAGAAA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPN_chr19_35036721_35071573	35048057	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03927.hp2 NA18960.hp2 others(1): Show HG02071.hp2 HG03927.hp2 NA18960.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0002g0107 others(1): Show a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0002g0107 a0001c0001t0002g0129	4	384	0.0104	-19	c.17- others(34): Show c.17-1230_17-1212delGAAAGAAAGAAAGAAAGAA	HPN	ENSG00000105707.15	transcript	ENST00000672452.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
HPSE2_chr10_98452077_99240852	99072927	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0108 a0001c0001t0030g0108	1	142	0.0070	-19	c.610 others(38): Show c.610+71292_610+71310delTTTTTTTTTTTTTTTTTTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99169504	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01981.hp1 HG03130.hp2 others(3): Show HG01891.hp1 HG01981.hp1 HG03130.hp2 HG06807.hp2 NA18747.hp2 NA18954.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0002c0002t0012	a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0004g0033 others(3): Show a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0004g0033 a0001c0001t0006g0007 a0001c0001t0006g0008 a0002c0002t0012g0006	6	142	0.0423	-19	c.449 others(38): Show c.449-25124_449-25106delTTTTTTTTTTTTTTTTTTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11			chr10	TogoVar
HRK_chr12_116851144_116886441	116872931	AGAGAAAT others(12): Show AGAGAAATGGCAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(128): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02258.hp1 HG02698.hp1 HG02698.hp2 HG02818.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18993.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19054.hp2 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(31): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0036 a0001c0001t0048 a0001c0001t0049 a0001c0001t0058 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0076 a0001c0001t0084 a0001c0001t0095 a0001c0001t0096 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0135	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0025 others(92): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0056 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0249 a0001c0001t0004g0006 a0001c0001t0004g0012 a0001c0001t0004g0123 a0001c0001t0004g0130 a0001c0001t0004g0141 a0001c0001t0004g0150 a0001c0001t0004g0163 a0001c0001t0004g0168 a0001c0001t0004g0179 a0001c0001t0005g0005 a0001c0001t0005g0135 a0001c0001t0008g0011 a0001c0001t0008g0155 a0001c0001t0008g0165 a0001c0001t0008g0167 a0001c0001t0008g0208 a0001c0001t0010g0026 a0001c0001t0010g0134 a0001c0001t0010g0151 a0001c0001t0010g0187 a0001c0001t0010g0202 a0001c0001t0016g0153 a0001c0001t0016g0174 a0001c0001t0016g0186 a0001c0001t0016g0203 a0001c0001t0020g0184 a0001c0001t0022g0140 a0001c0001t0022g0175 a0001c0001t0022g0180 a0001c0001t0029g0221 a0001c0001t0029g0239 a0001c0001t0030g0236 a0001c0001t0031g0133 a0001c0001t0031g0237 a0001c0001t0036g0144 a0001c0001t0036g0159 a0001c0001t0048g0142 a0001c0001t0049g0143 a0001c0001t0058g0137 a0001c0001t0064g0138 a0001c0001t0065g0055 a0001c0001t0066g0238 a0001c0001t0067g0220 a0001c0001t0068g0240 a0001c0001t0069g0154 a0001c0001t0070g0148 a0001c0001t0071g0156 a0001c0001t0072g0124 a0001c0001t0073g0157 a0001c0001t0074g0241 a0001c0001t0076g0242 a0001c0001t0084g0216 a0001c0001t0095g0158 a0001c0001t0096g0189 a0001c0001t0131g0160 a0001c0001t0132g0161 a0001c0001t0133g0132 a0001c0001t0135g0290	131	366	0.3579	-19	c.56 others(36): Show c.56+8026_*56+8044delCTTCTTTCTGCCATTTCTC	HRK	ENSG00000135116.9	transcript	ENST00000257572.5	protein_coding	1/1			chr12	TogoVar
HS3ST2_chr16_22809162_22921338	22884658	AAATATAT others(12): Show AAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01071.hp1 others(3): Show HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01346.hp1 HG03704.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0001c0005 a0003c0008 a0001c0004 a0001c0005 a0003c0008	a0001c0004t0002 a0001c0005t0002 a0003c0008t0002 a0001c0004t0002 a0001c0005t0002 a0003c0008t0002	a0001c0004t0002g0241 a0001c0005t0002g0004 a0001c0005t0002g0090 others(3): Show a0001c0004t0002g0241 a0001c0005t0002g0004 a0001c0005t0002g0090 a0001c0005t0002g0102 a0003c0008t0002g0231 a0003c0008t0002g0232	6	350	0.0171	-19	c.486 others(38): Show c.486-30285_486-30267delAATATATATATATATATAT	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1			chr16	TogoVar
HS3ST3A1_chr17_13489032_13606929	13523319	AGGAAACT others(12): Show AGGAAACTGGATCAGTTAAC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02723.hp2 HG03209.hp1 others(1): Show HG02109.hp1 HG02723.hp2 HG03209.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0310 a0001c0001t0018g0313 a0001c0001t0018g0314 others(1): Show a0001c0001t0018g0310 a0001c0001t0018g0313 a0001c0001t0018g0314 a0001c0001t0018g0327	4	338	0.0118	-19	c.600 others(38): Show c.600-26520_600-26502delGTTAACTGATCCAGTTTCC	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13560289	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	338	0.0030	-19	c.599 others(38): Show c.599+40223_599+40241delTTTTTTTTTTTTTTTTTTT	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13579943	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02717.hp2 HG03471.hp1 HG02486.hp2 HG02717.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0001t0072 a0001c0002t0016 a0001c0001t0017 a0001c0001t0072 a0001c0002t0016	a0001c0001t0017g0302 a0001c0001t0072g0303 a0001c0002t0016g0301 a0001c0001t0017g0302 a0001c0001t0072g0303 a0001c0002t0016g0301	3	338	0.0089	-19	c.599 others(38): Show c.599+20569_599+20587delTTTTTTTTTTTTTTTTTTT	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar

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