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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⚠️ 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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HIP1_chr7_75528298_75743941	75663997	CATATATG others(17): Show CATATATGTGTATATATATACACAT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0213 a0001c0010t0002g0213	1	254	0.0039	-24	c.121 others(43): Show c.121-64774_121-64751delATGTGTATATATATACACATATAT	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	1/30			chr7	TogoVar
HIP1_chr7_75528298_75743941	75743004	ATATTTAT others(17): Show ATATTTATTTATTTATTTATTTATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(82): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00609.hp1 HG00738.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18946.hp1 NA18967.hp1 NA18971.hp1 NA19005.hp1 NA19030.hp1 NA19043.hp1 NA19070.hp1 NA19240.hp1 NA21309.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0010	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0013 a0001c0015 a0004c0008 a0005c0021 a0010c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0035 a0001c0002t0001 a0001c0002t0004 a0001c0002t0008 a0001c0003t0007 a0001c0003t0016 a0001c0003t0024 a0001c0005t0001 a0001c0005t0009 a0001c0013t0004 a0001c0015t0001 a0004c0008t0019 a0005c0021t0005 a0010c0022t0037	a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0039 others(82): Show a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0002g0029 a0001c0001t0002g0035 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0096 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0003g0022 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0049 a0001c0001t0003g0057 a0001c0001t0003g0068 a0001c0001t0003g0082 a0001c0001t0003g0091 a0001c0001t0003g0162 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0044 a0001c0001t0004g0070 a0001c0001t0005g0041 a0001c0001t0005g0086 a0001c0001t0005g0087 a0001c0001t0006g0025 a0001c0001t0006g0027 a0001c0001t0006g0030 a0001c0001t0006g0034 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0009g0036 a0001c0001t0010g0072 a0001c0001t0012g0045 a0001c0001t0012g0063 a0001c0001t0013g0018 a0001c0001t0014g0037 a0001c0001t0015g0032 a0001c0001t0015g0033 a0001c0001t0017g0047 a0001c0001t0017g0069 a0001c0001t0018g0067 a0001c0001t0018g0074 a0001c0001t0022g0250 a0001c0001t0022g0251 a0001c0001t0023g0249 a0001c0001t0023g0253 a0001c0001t0024g0254 a0001c0001t0028g0092 a0001c0001t0029g0080 a0001c0001t0035g0040 a0001c0002t0001g0052 a0001c0002t0004g0048 a0001c0002t0008g0073 a0001c0003t0007g0066 a0001c0003t0007g0090 a0001c0003t0016g0024 a0001c0003t0024g0248 a0001c0005t0001g0058 a0001c0005t0009g0060 a0001c0005t0009g0077 a0001c0013t0004g0089 a0001c0015t0001g0055 a0004c0008t0019g0053 a0005c0021t0005g0088 a0010c0022t0037g0252	85	254	0.3347	-24	c.-41 others(35): Show c.-4108_-4085delAATAAATAAATAAATAAATAAATA	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding		4064		chr7	TogoVar
HIP1_chr7_75528298_75743941	75743365	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01258.hp2 others(11): Show HG00738.hp2 HG01167.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp2 HG02630.hp1 HG03710.hp2 HG03927.hp2 NA18950.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0025 a0001c0003t0002 a0001c0003t0009	a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 others(11): Show a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0005g0170 a0001c0001t0025g0166 a0001c0003t0002g0078 a0001c0003t0009g0062	14	254	0.0551	-24	c.-44 others(35): Show c.-4469_-4446delGAGAGAGAGAGAGAGAGAGAGAGA	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding		4425		chr7	TogoVar
HIPK2_chr7_139556570_139782998	139729324	TGAGAGAG others(17): Show TGAGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0025 a0002c0009t0025	a0002c0009t0025g0012 a0002c0009t0025g0012	1	154	0.0065	-24	c.20- others(41): Show c.20-12333_20-12310delTCTCTCTCTCTCTCTCTCTCTCTC	HIPK2	ENSG00000064393.16	transcript	ENST00000406875.8	protein_coding	1/14			chr7	TogoVar
HIVEP1_chr6_12007312_12169999	12017628	TGTTTTAC others(17): Show TGTTTTACAGAGAGCTGATTGGTCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01346.hp1 HG01516.hp2 others(1): Show HG00738.hp2 HG01346.hp1 HG01516.hp2 HG02258.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0004 a0002c0002t0001g0007 a0004c0004t0001g0005 others(1): Show a0002c0002t0001g0004 a0002c0002t0001g0007 a0004c0004t0001g0005 a0004c0004t0001g0006	4	344	0.0116	-24	c.40+ others(39): Show c.40+1961_40+1984delGTTTTACAGAGAGCTGATTGGTCC	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding	2/8			chr6	TogoVar
HIVEP3_chr1_41501365_41923922	41545765	TACCATCA others(17): Show TACCATCACCACCACCACCACCACC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02615.hp1 HG02895.hp2 others(4): Show HG00642.hp1 HG02615.hp1 HG02895.hp2 HG02970.hp2 HG03540.hp2 NA18522.hp1 NA20129.hp1	a0004 a0006 a0014 a0004 a0006 a0014	a0004c0018 a0006c0012 a0014c0017 a0004c0018 a0006c0012 a0014c0017	a0004c0018t0009 a0006c0012t0010 a0006c0012t0042 others(3): Show a0004c0018t0009 a0006c0012t0010 a0006c0012t0042 a0006c0012t0050 a0014c0017t0052 a0014c0017t0053	a0004c0018t0009g0056 a0004c0018t0009g0058 a0006c0012t0010g0037 others(4): Show a0004c0018t0009g0056 a0004c0018t0009g0058 a0006c0012t0010g0037 a0006c0012t0042g0052 a0006c0012t0050g0003 a0014c0017t0052g0034 a0014c0017t0053g0043	7	134	0.0522	-24	c.520 others(45): Show c.5208-20879_5208-20856delGGTGGTGGTGGTGGTGGTGATGGT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41824766	TATATATA others(17): Show TATATATATATATATATATAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0030 a0003c0006t0030	a0003c0006t0030g0045 a0003c0006t0030g0045	1	134	0.0075	-24	c.-80 others(45): Show c.-801+93623_-801+93646delCTCTCTATATATATATATATATAT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41824774	TATATATA others(17): Show TATATATATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0006 a0004c0007t0006	a0004c0007t0006g0050 a0004c0007t0006g0050	1	134	0.0075	-24	c.-80 others(45): Show c.-801+93615_-801+93638delCTCTCTCTCTCTCTATATATATAT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41824776	TATATATA others(17): Show TATATATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0015 a0011c0022t0015	a0011c0022t0015g0068 a0011c0022t0015g0068	1	134	0.0075	-24	c.-80 others(45): Show c.-801+93613_-801+93636delCTCTCTCTCTCTCTCTATATATAT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HK1_chr10_69273496_69406882	69275635	AAAACTTT others(17): Show AAAACTTTATTTACAAAAATAAGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0217	1	280	0.0036	-24	c.-33 others(35): Show c.-3345_-3322delAAACTTTATTTACAAAAATAAGTG	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding		2860		chr10	TogoVar
HLA-DRA_chr6_32434887_32450046	32447413	ATATGCAT others(17): Show ATATGCATACAGGTTTCCTGCGTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0008 a0002c0002t0005g0008	1	459	0.0022	-24	c.27 others(35): Show c.2774_*2797delTATGCATACAGGTTTCCTGCGTAT	HLA-DRA	ENSG00000204287.14	transcript	ENST00000395388.7	protein_coding		2368		chr6	TogoVar
HLA-DRA_chr6_32434887_32450046	32449132	CAAGGAAG others(17): Show CAAGGAAGGAAGGAAGGAAGGAAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01952.hp2 HG02148.hp2 others(11): Show HG00280.hp2 HG01952.hp2 HG02148.hp2 HG02273.hp1 NA18522.hp1 NA18747.hp1 NA18968.hp2 NA18973.hp2 NA18998.hp2 NA19005.hp2 NA19060.hp2 NA19083.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 others(1): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005	a0001c0001t0001g0001 a0002c0002t0002g0003 a0002c0002t0002g0025 others(2): Show a0001c0001t0001g0001 a0002c0002t0002g0003 a0002c0002t0002g0025 a0002c0002t0004g0032 a0002c0002t0005g0030	14	459	0.0305	-24	c.44 others(35): Show c.4493_*4516delAAGGAAGGAAGGAAGGAAGGAAGG	HLA-DRA	ENSG00000204287.14	transcript	ENST00000395388.7	protein_coding		4087		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722786	GGAAGAAG others(17): Show GGAAGAAGAAGAAGAAGAAGAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG03471.hp2 HG02897.hp2 HG03471.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0001 a0004c0005t0001g0011 a0001c0001t0001g0001 a0004c0005t0001g0011	2	443	0.0045	-24	c.-67 others(33): Show c.-677_-654delGAAGAAGAAGAAGAAGAAGAAGAA	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		647		chr6	TogoVar
HLCS_chr21_36743626_36971669	36888435	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0255 a0001c0001t0069g0255	1	258	0.0039	-24	c.189 others(43): Show c.1892+8401_1892+8424delATATATATATATATTTTTTTTTTT	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLCS_chr21_36743626_36971669	36888445	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02602.hp1 HG03516.hp2 others(6): Show HG01175.hp2 HG02602.hp1 HG03516.hp2 HG03579.hp1 HG04228.hp2 NA18977.hp2 NA19009.hp2 NA19084.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0049 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0049 a0002c0002t0002 a0002c0002t0048 a0003c0005t0002 a0003c0005t0027 a0003c0005t0092	a0001c0001t0002g0232 a0001c0001t0002g0237 a0001c0001t0003g0230 others(6): Show a0001c0001t0002g0232 a0001c0001t0002g0237 a0001c0001t0003g0230 a0001c0001t0049g0233 a0002c0002t0002g0155 a0002c0002t0048g0144 a0003c0005t0002g0195 a0003c0005t0027g0218 a0003c0005t0092g0134	9	258	0.0349	-24	c.189 others(43): Show c.1892+8391_1892+8414delATATATATATATATATATATATAT	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLCS_chr21_36743626_36971669	36888474	ATATATAT others(17): Show ATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0252 a0001c0001t0065g0252	1	258	0.0039	-24	c.189 others(43): Show c.1892+8362_1892+8385delAATATATATATATATATATATATA	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HMBOX1_chr8_28885395_29058262	28960753	CTTTTTCT others(17): Show CTTTTTCTTTTTCTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02886.hp2 HG03041.hp2 others(2): Show HG02572.hp1 HG02886.hp2 HG03041.hp2 HG03098.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 a0001c0001t0003 a0001c0001t0006 a0001c0001t0014	a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0006g0115 others(2): Show a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0006g0115 a0001c0001t0014g0116 a0001c0001t0014g0117	5	344	0.0145	-24	c.-57 others(41): Show c.-57-3052_-57-3029delCTTTTTCTTTTTTTTTTTTTTTTT	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
HMCN1_chr1_185729391_186195949	186063449	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0061 a0005c0005t0003g0061	1	92	0.0109	-24	c.751 others(41): Show c.7513+891_7513+914delAAGGAAGGAAGGAAGGAAGGAAGG	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	48/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN2_chr9_130260760_130439123	130299702	TCCATCCA others(17): Show TCCATCCACCCACCCATTCACTCAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0001 a0016c0019t0001	a0016c0019t0001g0034 a0016c0019t0001g0034	1	258	0.0039	-24	c.127 others(41): Show c.1276+431_1276+454delTCACTCACCCATCCACCCACCCAT	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	8/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130299834	TCCATCCA others(17): Show TCCATCCACCCACCCATTCACTCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01074.hp2 HG00099.hp1 HG00741.hp2 HG01074.hp2	a0006 a0140 a0148 a0006 a0140 a0148	a0006c0021 a0140c0154 a0148c0149 a0006c0021 a0140c0154 a0148c0149	a0006c0021t0002 a0140c0154t0002 a0148c0149t0002 a0006c0021t0002 a0140c0154t0002 a0148c0149t0002	a0006c0021t0002g0185 a0140c0154t0002g0184 a0148c0149t0002g0182 a0006c0021t0002g0185 a0140c0154t0002g0184 a0148c0149t0002g0182	3	258	0.0116	-24	c.127 others(41): Show c.1276+578_1276+601delCCCACCCATTCACTCACCCATCCA	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	8/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMG20A_chr15_77415888_77490603	77466505	TCTATCTG others(17): Show TCTATCTGCTATGCTATGCTATCTG	T T	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	366	0.0027	-24	c.238 others(39): Show c.238-577_238-554delCTATGCTATCTGCTATCTGCTATG	HMG20A	ENSG00000140382.15	transcript	ENST00000336216.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
HMG20B_chr19_3567944_3584083	3582078	GTGCAGAG others(17): Show GTGCAGAGATGCCATCACAGCTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	406	0.0025	-24	c.35 others(35): Show c.3558_*3581delTGCAGAGATGCCATCACAGCTCAC	HMG20B	ENSG00000064961.19	transcript	ENST00000333651.11	protein_coding		2996		chr19	TogoVar
HMGA2_chr12_65819483_65971291	65875589	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0190 a0001c0001t0003g0190	1	236	0.0042	-24	c.249 others(43): Show c.249+37038_249+37061delTTTTTTTTTTTTTTTTTTTTTTTT	HMGA2	ENSG00000149948.14	transcript	ENST00000403681.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
HMGB3_chrX_150978335_150995771	150983398	CCCGCCGC others(17): Show CCCGCCGCCGCCGCCGCCGCCGCCG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0029 a0001c0001t0012g0029	1	330	0.0030	-24	c.-6+ others(35): Show c.-6+54_-6+77delCGCCGCCGCCGCCGCCGCCGCCGC	HMGB3	ENSG00000029993.15	transcript	ENST00000325307.12	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
HMGB4_chr1_33859079_33869791	33862343	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	402	0.0025	-24	c.-18 others(35): Show c.-1848_-1825delTGTGTGTGTGTGTGTGTGTGTGTG	HMGB4	ENSG00000176256.11	transcript	ENST00000681531.1	protein_coding		1735		chr1	TogoVar
HMGCLL1_chr6_55429373_55584192	55539859	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03540.hp1 NA18522.hp1 others(1): Show HG02965.hp2 HG03540.hp1 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0001 a0001c0001t0004 a0001c0001t0014	a0001c0001t0001g0097 a0001c0001t0001g0222 a0001c0001t0004g0151 others(1): Show a0001c0001t0001g0097 a0001c0001t0001g0222 a0001c0001t0004g0151 a0001c0001t0014g0329	4	334	0.0120	-24	c.297 others(41): Show c.297+1846_297+1869delTCTTTCTTTCTTTCTTTCTTTCTT	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	3/8			chr6	TogoVar
HMGCLL1_chr6_55429373_55584192	55539940	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	334	0.0030	-24	c.297 others(41): Show c.297+1765_297+1788delCTTCCTTCCTTCCTTCCTTCCTTC	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	3/8			chr6	TogoVar
HMGCLL1_chr6_55429373_55584192	55539974	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03669.hp1 NA18939.hp1 others(8): Show HG00673.hp1 HG03669.hp1 NA18939.hp1 NA18941.hp2 NA18946.hp1 NA18954.hp1 NA18956.hp2 NA19064.hp1 NA19077.hp2 NA19082.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0216 a0001c0001t0001g0278 a0001c0001t0001g0279 others(8): Show a0001c0001t0001g0216 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0305 a0001c0001t0001g0310 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0011g0141	11	334	0.0329	-24	c.297 others(41): Show c.297+1731_297+1754delCCCTTCCTTCCTTCCTTCCTTCCT	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	3/8			chr6	TogoVar
HMGCLL1_chr6_55429373_55584192	55539978	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGAAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp2 HG01934.hp1 others(18): Show HG00642.hp1 HG01074.hp2 HG01934.hp1 HG02055.hp1 HG02129.hp1 HG02572.hp2 HG02602.hp1 HG03471.hp2 NA18612.hp1 NA18950.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp2 NA18985.hp1 NA19003.hp1 NA19004.hp2 NA19063.hp1 NA19074.hp2 NA19083.hp1 NA19086.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0020 a0001c0001t0001g0100 a0001c0001t0001g0101 others(18): Show a0001c0001t0001g0020 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0251 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0318 a0001c0001t0002g0096 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0207 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0250 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291	21	334	0.0629	-24	c.297 others(41): Show c.297+1727_297+1750delCCCTCCCTTCCTTCCTTCCTTCCT	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	3/8			chr6	TogoVar
HMGCLL1_chr6_55429373_55584192	55539982	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02896.hp2 HG02897.hp2 others(2): Show HG01928.hp1 HG02896.hp2 HG02897.hp2 HG03516.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0002g0129 others(2): Show a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0002g0129 a0001c0001t0004g0223 a0001c0001t0004g0224	5	334	0.0150	-24	c.297 others(41): Show c.297+1723_297+1746delCCCTCCCTCCCTTCCTTCCTTCCT	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	3/8			chr6	TogoVar
HMGCL_chr1_23796885_23830429	23825731	TCCAAAAA others(17): Show TCCAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0173 a0001c0002t0001g0173	1	372	0.0027	-24	c.-34 others(33): Show c.-340_-317delTTTTTTTTTTTTTTTTTTTTTTGG	HMGCL	ENSG00000117305.15	transcript	ENST00000374490.8	protein_coding		303		chr1	TogoVar
HMGCL_chr1_23796885_23830429	23830113	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(77): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00597.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01167.hp1 HG01169.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG01943.hp2 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp2 HG02135.hp2 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG02738.hp1 HG02886.hp1 HG03041.hp2 HG03130.hp2 HG03492.hp2 HG03516.hp2 HG03688.hp1 HG03942.hp1 HG04228.hp2 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18948.hp2 NA18952.hp1 NA18953.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19054.hp1 NA19058.hp2 NA19062.hp1 NA19070.hp2 NA19081.hp2 NA19084.hp2 NA19086.hp2 NA19091.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0018 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243	80	372	0.2151	-24	c.-47 others(35): Show c.-4722_-4699delTATATATATATATATATATATATA	HMGCL	ENSG00000117305.15	transcript	ENST00000374490.8	protein_coding		4685		chr1	TogoVar
HMGN5_chrX_81108699_81206913	81153583	CTATATAT others(17): Show CTATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG03130.hp1 HG01981.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0197 a0001c0001t0001g0121 a0001c0001t0001g0197	2	225	0.0089	-24	c.-12 others(45): Show c.-123-31935_-123-31912delTATATATATATATATATATATATA	HMGN5	ENSG00000198157.11	transcript	ENST00000358130.7	protein_coding	1/6			chrX	TogoVar
HMOX1_chr22_35376096_35399207	35380841	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	384	0.0026	-24	c.-33 others(33): Show c.-332_-309delTGTGTGTGTGTGTGTGTGTGTGTA	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding		254		chr22	TogoVar
HMOX1_chr22_35376096_35399207	35389341	CTCCTTCC others(17): Show CTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0305 a0002c0002t0001g0305	1	384	0.0026	-24	c.637 others(39): Show c.637-489_637-466delCCTTCCTTCCTTCCTTCCTTCCTT	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
HMOX2_chr16_4471398_4515347	4483160	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00597.hp2 others(70): Show HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG01074.hp1 HG01123.hp1 HG01175.hp2 HG01255.hp1 HG01433.hp1 HG01516.hp2 HG01891.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02145.hp1 HG02148.hp2 HG02630.hp1 HG02698.hp2 HG02723.hp1 HG03017.hp1 HG03490.hp1 HG03491.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG03942.hp2 HG04204.hp2 HG04228.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18954.hp1 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19054.hp1 NA19057.hp2 NA19065.hp1 NA19066.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19087.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0261 others(57): Show a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0261 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0002t0001g0029 a0001c0002t0001g0036	73	313	0.2332	-24	c.-42 others(41): Show c.-42+6714_-42+6737delGTGTGTGTGTGTGTGTGTGTGTGT	HMOX2	ENSG00000103415.12	transcript	ENST00000570646.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
HMSD_chr18_63944301_63966835	63963071	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 NA18966.hp1 NA18988.hp2 others(1): Show HG02135.hp1 NA18966.hp1 NA18988.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	4	404	0.0099	-24	c.27 others(35): Show c.2717_*2740delTCTTTCTTTCTTTCTTTCTTTCTT	HMSD	ENSG00000221887.6	transcript	ENST00000408945.5	protein_coding		1237		chr18	TogoVar
HMSD_chr18_63944301_63966835	63963191	GCTTCCTT others(17): Show GCTTCCTTCCTTGCTTCCTTCCTTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02559.hp2 HG02717.hp1 others(7): Show HG01081.hp1 HG02559.hp2 HG02717.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0046 a0001c0001t0004g0047 others(3): Show a0001c0001t0004g0025 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0100 a0001c0001t0004g0109 a0001c0001t0004g0110	10	404	0.0248	-24	c.28 others(35): Show c.2837_*2860delCTTCCTTCCTTGCTTCCTTCCTTC	HMSD	ENSG00000221887.6	transcript	ENST00000408945.5	protein_coding		1357		chr18	TogoVar
HMSD_chr18_63944301_63966835	63963203	GCTTCCTT others(17): Show GCTTCCTTCCTTCCTTCCTTCCTTG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG03540.hp1 NA19030.hp2 HG02145.hp2 HG03540.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0045 a0001c0001t0011g0098 a0001c0001t0011g0045 a0001c0001t0011g0098	3	404	0.0074	-24	c.28 others(35): Show c.2849_*2872delCTTCCTTCCTTCCTTCCTTCCTTG	HMSD	ENSG00000221887.6	transcript	ENST00000408945.5	protein_coding		1369		chr18	TogoVar
HNF1B_chr17_37681431_37750059	37724297	CTGGTTCT others(17): Show CTGGTTCTCAAATTTAGCTACACAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00733.hp1 others(19): Show HG00140.hp2 HG00323.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01192.hp1 HG01255.hp1 HG01433.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01981.hp1 HG02148.hp1 HG02630.hp1 HG02683.hp2 HG02735.hp1 HG03239.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 others(19): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0157 a0001c0001t0001g0173 a0001c0001t0001g0371 a0001c0001t0001g0377 a0001c0001t0001g0380 a0001c0001t0001g0388 a0001c0001t0002g0147 a0001c0001t0003g0018 a0001c0001t0003g0023 a0001c0001t0003g0273 a0001c0001t0004g0021 a0001c0001t0004g0376 a0001c0001t0008g0017 a0001c0001t0008g0020 a0001c0001t0008g0025 a0001c0001t0008g0239 a0001c0001t0008g0378 a0001c0001t0008g0379	22	409	0.0538	-24	c.104 others(43): Show c.1045+7274_1045+7297delATGTGTAGCTAAATTTGAGAACCA	HNF1B	ENSG00000275410.6	transcript	ENST00000617811.5	protein_coding	4/8			chr17	TogoVar
HNRNPF_chr10_43380618_43414186	43380690	AAACTAAA others(17): Show AAACTAAAACAAAACAAACTAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(55): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01243.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02055.hp1 HG02074.hp1 HG02257.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG04199.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017	a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0013 others(36): Show a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0029 a0001c0001t0002g0035 a0001c0001t0002g0040 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0074 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0135 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0203 a0001c0001t0009g0030 a0001c0001t0009g0111 a0001c0001t0011g0026 a0001c0001t0017g0184	58	364	0.1593	-24	c.59 others(35): Show c.5923_*5946delGTTTTAGTTTGTTTTGTTTTAGTT	HNRNPF	ENSG00000169813.17	transcript	ENST00000682386.1	protein_coding		4927		chr10	TogoVar
HNRNPF_chr10_43380618_43414186	43405966	GTTGGGAC others(17): Show GTTGGGACTGGGTCCCAAGTCCCAA	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	364	0.0028	-24	c.-24 others(43): Show c.-247+3141_-247+3164delTTGGGACTTGGGACCCAGTCCCAA	HNRNPF	ENSG00000169813.17	transcript	ENST00000682386.1	protein_coding	1/3			chr10	TogoVar
HOMER1_chr5_79367636_79519134	79398309	ACACACAC others(17): Show ACACACACACACACACACACACATG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02109.hp1 HG03139.hp2 others(2): Show HG01167.hp1 HG02109.hp1 HG03139.hp2 HG03540.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0083 a0001c0001t0004g0147 a0001c0001t0014g0157 others(2): Show a0001c0001t0004g0083 a0001c0001t0004g0147 a0001c0001t0014g0157 a0001c0001t0014g0230 a0001c0001t0014g0244	5	290	0.0172	-24	c.685 others(39): Show c.685-696_685-673delCATGTGTGTGTGTGTGTGTGTGTG	HOMER1	ENSG00000152413.15	transcript	ENST00000334082.11	protein_coding	6/8			chr5	TogoVar
HOMER1_chr5_79367636_79519134	79421567	ATACTATG others(17): Show ATACTATGAGCACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0243 a0001c0001t0008g0243	1	290	0.0035	-24	c.527 others(43): Show c.527+17419_527+17442delGTGTGTGTGTGTGTGCTCATAGTA	HOMER1	ENSG00000152413.15	transcript	ENST00000334082.11	protein_coding	5/8			chr5	TogoVar
HOMER1_chr5_79367636_79519134	79494628	GGAGGCCA others(17): Show GGAGGCCAAGGCGGGTGGAACACTT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18942.hp2 NA19065.hp1 HG00673.hp1 NA18942.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0005g0247 a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0005g0247	3	290	0.0103	-24	c.5+1 others(39): Show c.5+18118_5+18141delAAGTGTTCCACCCGCCTTGGCCTC	HOMER1	ENSG00000152413.15	transcript	ENST00000334082.11	protein_coding	1/8			chr5	TogoVar
HPCAL1_chr2_10297904_10432604	10399557	TACCGCCA others(17): Show TACCGCCACCGCCACCACCACCGCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	314	0.0032	-24	c.-25 others(41): Show c.-25+2659_-25+2682delGCCACCGCCACCGCCACCACCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10403452	TTTTGTGT others(17): Show TTTTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(104): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02451.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG02970.hp1 HG03017.hp2 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18947.hp1 NA18949.hp1 NA18953.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18993.hp2 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19010.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19077.hp2 NA19081.hp1 NA19085.hp1 NA20300.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0020 a0001c0003t0001 a0001c0005t0004	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 others(104): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0256 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0281 a0001c0001t0001g0288 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0002g0013 a0001c0001t0002g0027 a0001c0001t0002g0040 a0001c0001t0002g0085 a0001c0001t0002g0186 a0001c0001t0002g0203 a0001c0001t0002g0262 a0001c0001t0002g0277 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0003g0115 a0001c0001t0003g0241 a0001c0001t0004g0055 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0074 a0001c0001t0004g0077 a0001c0001t0004g0079 a0001c0001t0004g0082 a0001c0001t0004g0105 a0001c0001t0004g0112 a0001c0001t0004g0130 a0001c0001t0004g0144 a0001c0001t0004g0165 a0001c0001t0004g0191 a0001c0001t0004g0195 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0240 a0001c0001t0004g0249 a0001c0001t0004g0253 a0001c0001t0004g0305 a0001c0001t0010g0076 a0001c0001t0010g0224 a0001c0001t0020g0143 a0001c0003t0001g0274 a0001c0005t0004g0093	107	314	0.3408	-24	c.-25 others(41): Show c.-25+6534_-25+6557delTTGTGTGTGTGTGTGTGTGTGTGT	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPS5_chr11_18273676_18327140	18323613	TGACTCCA others(17): Show TGACTCCATACAAACCAATATCCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0020 a0001c0003t0001g0020	1	372	0.0027	-24	c.-17 others(35): Show c.-1741_-1718delCTGGATATTGGTTTGTATGGAGTC	HPS5	ENSG00000110756.18	transcript	ENST00000349215.8	protein_coding		1474		chr11	TogoVar
HPSE2_chr10_98452077_99240852	99164227	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03098.hp2 HG02257.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0031 a0002c0002t0007g0032 a0002c0002t0007g0031 a0002c0002t0007g0032	2	142	0.0141	-24	c.449 others(43): Show c.449-19852_449-19829delTATATATATATATATATATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99184811	TATATATA others(17): Show TATATATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01255.hp2 NA19030.hp1 HG00323.hp2 HG01255.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0016g0025 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0016g0025	3	142	0.0211	-24	c.449 others(43): Show c.449-40436_449-40413delCTCTCTCTCTCTCTCTATATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11			chr10	TogoVar

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