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
HLA-F_chr6_29718434_29732296	29731227	G G	GGATGGAT others(12): Show GGATGGATAGATGATAGATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG03669.hp2 HG01109.hp2 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	2	443	0.0045	19	c.40 others(30): Show c.4052_*4053insGATGGATAGATGATAGATA	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		3932		chr6	TogoVar
HLA-G_chr6_29822825_29836021	29831449	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0009 a0001c0001t0007g0009	1	479	0.0021	19	c.71 others(28): Show c.710_*711insTTTTTTTTTTTTTTTTTTG	HLA-G	ENSG00000204632.13	transcript	ENST00000360323.11	protein_coding		429		chr6	TogoVar
HMCN1_chr1_185729391_186195949	186110977	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01069.hp1 others(12): Show HG00639.hp1 HG00639.hp2 HG01069.hp1 HG01192.hp1 HG01516.hp1 HG01516.hp2 HG02258.hp1 HG02451.hp1 HG02615.hp2 HG02976.hp2 HG03225.hp1 NA18522.hp2 NA18960.hp1 NA18986.hp1 NA20129.hp2	a0001 a0006 a0008 others(5): Show a0001 a0006 a0008 a0013 a0025 a0032 a0038 a0045	a0001c0001 a0001c0015 a0006c0006 others(6): Show a0001c0001 a0001c0015 a0006c0006 a0008c0009 a0013c0011 a0025c0045 a0032c0024 a0038c0036 a0045c0026	a0001c0001t0001 a0001c0001t0002 a0001c0015t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0015t0001 a0006c0006t0005 a0008c0009t0001 a0008c0009t0002 a0013c0011t0004 a0025c0045t0001 a0032c0024t0001 a0038c0036t0005 a0045c0026t0001	a0001c0001t0001g0010 a0001c0001t0001g0052 a0001c0001t0001g0087 others(12): Show a0001c0001t0001g0010 a0001c0001t0001g0052 a0001c0001t0001g0087 a0001c0001t0002g0004 a0001c0001t0002g0021 a0001c0001t0002g0089 a0001c0015t0001g0045 a0006c0006t0005g0080 a0008c0009t0001g0084 a0008c0009t0002g0085 a0013c0011t0004g0057 a0025c0045t0001g0073 a0032c0024t0001g0040 a0038c0036t0005g0033 a0045c0026t0001g0022	15	92	0.1630	19	c.109 others(40): Show c.10990-1832_10990-1814dupTTTTTTTTTTTTTTTTTTT	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	71/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN1_chr1_185729391_186195949	186132490	A A	ATAGCAAG others(12): Show ATAGCAAGTTCATTAGTGGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19030.hp2 HG01891.hp1 NA19030.hp2	a0016 a0026 a0016 a0026	a0016c0047 a0026c0040 a0016c0047 a0026c0040	a0016c0047t0001 a0026c0040t0003 a0016c0047t0001 a0026c0040t0003	a0016c0047t0001g0081 a0026c0040t0003g0086 a0016c0047t0001g0081 a0026c0040t0003g0086	2	92	0.0217	19	c.133 others(37): Show c.13312+82_13312+100dupTAGCAAGTTCATTAGTGGT	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	86/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN2_chr9_130260760_130439123	130293279	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02486.hp2 HG02055.hp1 HG02145.hp2 HG02486.hp2	a0040 a0083 a0146 a0040 a0083 a0146	a0040c0033 a0083c0068 a0146c0160 a0040c0033 a0083c0068 a0146c0160	a0040c0033t0001 a0083c0068t0001 a0146c0160t0002 a0040c0033t0001 a0083c0068t0001 a0146c0160t0002	a0040c0033t0001g0014 a0083c0068t0001g0108 a0146c0160t0002g0246 a0040c0033t0001g0014 a0083c0068t0001g0108 a0146c0160t0002g0246	3	258	0.0116	19	c.613 others(36): Show c.613-1573_613-1555dupTTTTTTTTTTTTTTTTTTT	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	4/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMGA2_chr12_65819483_65971291	65849736	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp2 HG03209.hp1 HG02922.hp2 HG02976.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0110 a0001c0001t0113 a0001c0001t0047 a0001c0001t0110 a0001c0001t0113	a0001c0001t0047g0183 a0001c0001t0110g0182 a0001c0001t0113g0181 a0001c0001t0047g0183 a0001c0001t0110g0182 a0001c0001t0113g0181	3	236	0.0127	19	c.249 others(38): Show c.249+11173_249+11191dupTTTTTTTTTTTTTTTTTTT	HMGA2	ENSG00000149948.14	transcript	ENST00000403681.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
HMGB3_chrX_150978335_150995771	150980310	A A	AGCCCACT others(12): Show AGCCCACTGGGCCACAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	330	0.0030	19	c.-30 others(30): Show c.-3072_-3071insGCCCACTGGGCCACAGGCG	HMGB3	ENSG00000029993.15	transcript	ENST00000325307.12	protein_coding		3024		chrX	TogoVar
HMGCL_chr1_23796885_23830429	23828869	T T	TCATTCAC others(12): Show TCATTCACATCACTAGCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	372	0.0027	19	c.-34 others(30): Show c.-3455_-3454insCTGGCTAGTGATGTGAATG	HMGCL	ENSG00000117305.15	transcript	ENST00000374490.8	protein_coding		3441		chr1	TogoVar
HMGN4_chr6_26533366_26551933	26543421	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	396	0.0025	19	c.-80 others(36): Show c.-80-1688_-80-1687insTTTTTTTTTTTTTTTTTTT	HMGN4	ENSG00000182952.5	transcript	ENST00000377575.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
HMHB1_chr5_143807161_143825716	143817523	T T	TGGGTTTA others(12): Show TGGGTTTATTTCTGGTTCTC	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0107 a0002c0002t0001g0107	1	458	0.0022	19	c.38- others(34): Show c.38-2956_38-2938dupGGGTTTATTTCTGGTTCTC	HMHB1	ENSG00000158497.6	transcript	ENST00000289448.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
HMHB1_chr5_143807161_143825716	143820318	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02074.hp2 HG02129.hp2 others(4): Show HG00544.hp1 HG02074.hp2 HG02129.hp2 HG03831.hp2 NA18974.hp2 NA19077.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	7	458	0.0153	19	c.38- others(32): Show c.38-148_38-130dupAAAAAAAAAAAAAAAAAAA	HMHB1	ENSG00000158497.6	transcript	ENST00000289448.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
HMMR_chr5_163455632_163496941	163490886	T T	TTCTGATT others(12): Show TTCTGATTTGTAGTTTTAGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0008 a0014c0015t0008	a0014c0015t0008g0161 a0014c0015t0008g0161	1	406	0.0025	19	c.212 others(36): Show c.2126-225_2126-207dupTCTGATTTGTAGTTTTAGA	HMMR	ENSG00000072571.20	transcript	ENST00000393915.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
HMMR_chr5_163455632_163496941	163494876	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 NA18943.hp2 HG02055.hp1 NA18943.hp2	a0003 a0013 a0003 a0013	a0003c0003 a0013c0013 a0003c0003 a0013c0013	a0003c0003t0001 a0013c0013t0007 a0003c0003t0001 a0013c0013t0007	a0003c0003t0001g0003 a0013c0013t0007g0044 a0003c0003t0001g0003 a0013c0013t0007g0044	2	406	0.0049	19	c.37 others(30): Show c.3712_*3713insTTTTTTTTTTTTTTTTTTT	HMMR	ENSG00000072571.20	transcript	ENST00000393915.9	protein_coding		2936		chr5	TogoVar
HMOX1_chr22_35376096_35399207	35389229	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03041.hp1 NA18522.hp2 HG02258.hp2 HG03041.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032	3	384	0.0078	19	c.637 others(34): Show c.637-624_637-623insCTTTTCTTTTTCTTTCTTT	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
HNF4A_chr20_44350699_44437845	44368160	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	322	0.0031	19	c.49+ others(36): Show c.49+12308_49+12309insATATATATATATATATATT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
HNF4A_chr20_44350699_44437845	44368160	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA18941.hp1 NA18994.hp2 HG02602.hp2 NA18941.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0229 a0001c0001t0003g0250 a0001c0001t0005g0236 a0001c0001t0002g0229 a0001c0001t0003g0250 a0001c0001t0005g0236	3	322	0.0093	19	c.49+ others(36): Show c.49+12308_49+12309insATATATATATATATTTTTT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
HNF4A_chr20_44350699_44437845	44368160	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	322	0.0031	19	c.49+ others(36): Show c.49+12308_49+12309insATATATATATTTTTTTTTT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
HNF4A_chr20_44350699_44437845	44368160	A A	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01517.hp1 HG01175.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0079 a0001c0001t0029 a0001c0001t0079	a0001c0001t0029g0276 a0001c0001t0079g0266 a0001c0001t0029g0276 a0001c0001t0079g0266	2	322	0.0062	19	c.49+ others(36): Show c.49+12308_49+12309insATATTTTTTTTTTTTTTTT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
HNF4A_chr20_44350699_44437845	44385059	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02056.hp1 HG02056.hp2 others(5): Show HG00597.hp2 HG02056.hp1 HG02056.hp2 HG02300.hp1 HG02723.hp2 HG03453.hp1 NA18995.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0039 a0001c0001t0069 a0005c0006t0023	a0001c0001t0001g0255 a0001c0001t0002g0133 a0001c0001t0002g0143 others(5): Show a0001c0001t0001g0255 a0001c0001t0002g0133 a0001c0001t0002g0143 a0001c0001t0003g0092 a0001c0001t0005g0196 a0001c0001t0039g0118 a0001c0001t0069g0197 a0005c0006t0023g0107	8	322	0.0248	19	c.50- others(36): Show c.50-20989_50-20971dupTTTTTTTTTTTTTTTTTTT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
HNF4A_chr20_44350699_44437845	44388372	A A	ACCCCCCC others(12): Show ACCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA20905.hp2 NA18906.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0085 a0001c0012t0008 a0001c0001t0085 a0001c0012t0008	a0001c0001t0085g0183 a0001c0012t0008g0006 a0001c0001t0085g0183 a0001c0012t0008g0006	2	322	0.0062	19	c.50- others(36): Show c.50-17678_50-17677insCCCCCCCCCCCCCCCCCCC	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
HNRNPAB_chr5_178199533_178216163	178203504	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00733.hp2 HG00741.hp2 others(21): Show HG00408.hp2 HG00733.hp2 HG00741.hp2 HG01071.hp1 HG01168.hp2 HG01934.hp2 HG02135.hp1 HG02165.hp1 HG02293.hp1 HG02300.hp2 HG03225.hp1 HG03704.hp1 HG03834.hp1 HG04204.hp2 NA18939.hp1 NA18949.hp2 NA18970.hp1 NA19003.hp1 NA19058.hp2 NA19068.hp1 NA19085.hp1 NA19088.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0011 a0001c0001t0002g0001 a0001c0001t0002g0013 others(3): Show a0001c0001t0001g0011 a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0020 a0001c0001t0002g0032 a0001c0001t0005g0001	24	462	0.0520	19	c.-12 others(30): Show c.-1260_-1259insAAAAAAAAAAAAAAAAAAA	HNRNPAB	ENSG00000197451.12	transcript	ENST00000358344.8	protein_coding		1028		chr5	TogoVar
HNRNPD_chr4_82347498_82378991	82376933	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02165.hp1 NA18961.hp2 others(4): Show HG02132.hp1 HG02165.hp1 NA18961.hp2 NA18980.hp2 NA19004.hp1 NA19010.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0092 a0001c0001t0005g0006 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0092 a0001c0001t0005g0006 a0001c0001t0005g0084	7	332	0.0211	19	c.-32 others(30): Show c.-3256_-3255insAAAAAAAAAAAAAAAAAAA	HNRNPD	ENSG00000138668.20	transcript	ENST00000313899.12	protein_coding		2943		chr4	TogoVar
HNRNPH1_chr5_179609178_179628671	179612966	T T	TCAAGCCC others(12): Show TCAAGCCCCCATGTTTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01123.hp2 HG01175.hp1 others(50): Show HG00735.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01358.hp1 HG01361.hp2 HG01516.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02074.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02486.hp1 HG02615.hp1 HG02683.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03704.hp2 HG03710.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18939.hp1 NA18940.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18974.hp1 NA18982.hp2 NA18986.hp1 NA18991.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19070.hp2 NA19078.hp2 NA19081.hp1 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0001c0004t0001	a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0071 others(16): Show a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0002g0007 a0001c0001t0002g0047 a0001c0001t0002g0078 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0124 a0001c0001t0004g0072 a0001c0001t0005g0015 a0001c0001t0005g0046 a0001c0001t0005g0057 a0001c0001t0005g0105 a0001c0001t0005g0126 a0001c0001t0007g0040 a0001c0001t0015g0052 a0001c0004t0001g0073	53	430	0.1233	19	c.19 others(30): Show c.1993_*1994insGGACAAACATGGGGGCTTG	HNRNPH1	ENSG00000169045.19	transcript	ENST00000393432.9	protein_coding		1211		chr5	TogoVar
HNRNPLL_chr2_38556969_38607928	38588546	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19079.hp1 NA18951.hp2 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0255 a0002c0002t0006g0256 a0002c0002t0006g0255 a0002c0002t0006g0256	2	338	0.0059	19	c.309 others(36): Show c.309-2684_309-2666dupTTTTTTTTTTTTTTTTTTT	HNRNPLL	ENSG00000143889.16	transcript	ENST00000449105.8	protein_coding	2/12			chr2	TogoVar
HNRNPM_chr19_8439975_8494114	8441431	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	360	0.0028	19	c.-35 others(30): Show c.-3568_-3567insCTCTCTCTCTCTCTCTCTC	HNRNPM	ENSG00000099783.13	transcript	ENST00000325495.9	protein_coding		3543		chr19	TogoVar
HNRNPR_chr1_23299688_23349284	23331834	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG04199.hp1 HG03492.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0241 a0001c0001t0002g0221 a0001c0001t0002g0241	2	354	0.0057	19	c.498 others(36): Show c.498+1665_498+1683dupTTTTTTTTTTTTTTTTTTT	HNRNPR	ENSG00000125944.22	transcript	ENST00000302271.11	protein_coding	5/10			chr1	TogoVar
HNRNPUL1_chr19_41259372_41312787	41260298	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	290	0.0035	19	c.-42 others(30): Show c.-4206_-4205insTTTTTTTTTTTTTTTTTTT	HNRNPUL1	ENSG00000105323.18	transcript	ENST00000392006.8	protein_coding		4073		chr19	TogoVar
HNRNPUL1_chr19_41259372_41312787	41311803	G G	GCGGGAGG others(12): Show GCGGGAGGATCACTTGAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0216	1	290	0.0035	19	c.52 others(30): Show c.5238_*5239insCGGGAGGATCACTTGAGCC	HNRNPUL1	ENSG00000105323.18	transcript	ENST00000392006.8	protein_coding		4017		chr19	TogoVar
HOGA1_chr10_97579389_97617802	97593029	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03130.hp2 HG02280.hp1 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0012 a0001c0002t0002 a0001c0002t0012	a0001c0002t0002g0307 a0001c0002t0012g0277 a0001c0002t0002g0307 a0001c0002t0012g0277	2	422	0.0047	19	c.212 others(36): Show c.212-5742_212-5724dupAAAAAAAAAAAAAAAAAAA	HOGA1	ENSG00000241935.9	transcript	ENST00000370646.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
HOMER1_chr5_79367636_79519134	79465584	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0057 a0001c0002t0003g0057	1	290	0.0035	19	c.6-8 others(32): Show c.6-8585_6-8567dupAAAAAAAAAAAAAAAAAAA	HOMER1	ENSG00000152413.15	transcript	ENST00000334082.11	protein_coding	1/8			chr5	TogoVar
HOMER2_chr15_82843983_82957720	82928940	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00438.hp2 others(65): Show HG00140.hp2 HG00408.hp2 HG00438.hp2 HG00639.hp1 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01258.hp1 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG02055.hp2 HG02083.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03710.hp2 HG03927.hp2 HG04184.hp2 HG04204.hp2 NA18522.hp2 NA18944.hp1 NA18947.hp1 NA18954.hp1 NA18961.hp2 NA18965.hp1 NA18983.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19010.hp1 NA19030.hp1 NA19062.hp2 NA19083.hp1 NA19084.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0059 others(65): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0199 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0308 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0318 a0001c0001t0001g0327 a0001c0001t0001g0332 a0001c0001t0001g0344 a0001c0001t0002g0155 a0001c0001t0002g0256 a0001c0001t0002g0326 a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0006g0260 a0001c0001t0006g0261 a0002c0002t0001g0287 a0002c0002t0001g0333 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0346 a0003c0004t0001g0148	68	348	0.1954	19	c.5+2 others(34): Show c.5+23572_5+23590dupTTTTTTTTTTTTTTTTTTT	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	1/8			chr15	TogoVar
HOOK1_chr1_59809949_59881322	59854038	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0177 a0001c0001t0013g0177	1	252	0.0040	19	c.124 others(38): Show c.1243-4389_1243-4388insATATATATATATATATTTT	HOOK1	ENSG00000134709.13	transcript	ENST00000371208.5	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
HOOK3_chr8_42891978_43035535	43021104	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0029 a0001c0001t0027g0029	1	162	0.0062	19	c.26 others(30): Show c.2617_*2635dupAAAAAAAAAAAAAAAAAAA	HOOK3	ENSG00000168172.9	transcript	ENST00000307602.9	protein_coding	22/22	2636	INFO_REALIGN_3_PRIME	chr8	TogoVar
HOPX_chr4_56642998_56686296	56685941	A A	AATGTATT others(12): Show AATGTATTATATATTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18999.hp2 NA18980.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0095 a0001c0001t0001g0100	2	376	0.0053	19	c.-47 others(30): Show c.-4771_-4770insCATATAATATATAATACAT	HOPX	ENSG00000171476.23	transcript	ENST00000420433.6	protein_coding		4646		chr4	TogoVar
HORMAD2_chr22_30075464_30182075	30078607	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0341 a0001c0001t0001g0341	1	350	0.0029	19	c.-19 others(30): Show c.-1922_-1921insAAAAAAAAAAAAAAAAAAA	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding		1856		chr22	TogoVar
HORMAD2_chr22_30075464_30182075	30125216	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp1 HG03540.hp2 others(2): Show HG01884.hp1 HG02809.hp1 HG03540.hp2 HG03831.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0056 a0001c0001t0001g0096 a0001c0001t0001g0097 others(2): Show a0001c0001t0001g0056 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0003g0162	5	350	0.0143	19	c.819 others(36): Show c.819+3010_819+3028dupTTTTTTTTTTTTTTTTTTT	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HOXA13_chr7_27189364_27205091	27202822	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01255.hp1 HG01358.hp2 others(5): Show HG00280.hp1 HG01255.hp1 HG01358.hp2 HG02129.hp2 HG02602.hp2 HG03942.hp2 NA18992.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	8	416	0.0192	19	c.-27 others(30): Show c.-2746_-2745insTTTTTTTTTTTTTTTTTTT	HOXA13	ENSG00000106031.9	transcript	ENST00000649031.1	protein_coding		2732		chr7	TogoVar
HOXA13_chr7_27189364_27205091	27202835	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0029 a0001c0001t0019g0029	1	416	0.0024	19	c.-27 others(30): Show c.-2759_-2758insGTTTTTTTTTTTTTTTTTT	HOXA13	ENSG00000106031.9	transcript	ENST00000649031.1	protein_coding		2745		chr7	TogoVar
HOXA3_chr7_27102010_27157583	27111513	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02293.hp2 HG01261.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0191 a0001c0001t0013g0019 a0001c0001t0002g0191 a0001c0001t0013g0019	2	326	0.0061	19	c.-12 others(36): Show c.-120-754_-120-753insCACACACACACACACACAC	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	4/5			chr7	TogoVar
HOXB13_chr17_48719763_48733750	48731314	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0014 a0001c0004t0001g0014	1	426	0.0024	19	c.-27 others(30): Show c.-2722_-2721insTTTTTTTTTTTTTTTTTTT	HOXB13	ENSG00000159184.8	transcript	ENST00000290295.8	protein_coding		2565		chr17	TogoVar
HOXB1_chr17_48523526_48536011	48528163	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0024	19	c.13 others(30): Show c.1383_*1384insTTTTTTTTTTTTTTTTTTT	HOXB1	ENSG00000120094.9	transcript	ENST00000239174.7	protein_coding		362		chr17	TogoVar
HOXC13_chr12_53933831_53951544	53942154	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	402	0.0025	19	c.736 others(36): Show c.736+2531_736+2549dupTTTTTTTTTTTTTTTTTTT	HOXC13	ENSG00000123364.5	transcript	ENST00000243056.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
HOXC8_chr12_54003985_54017769	54012777	G G	GAATGACT others(12): Show GAATGACTTGCTTTTTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0020 a0005c0003t0020	a0005c0003t0020g0001 a0005c0003t0020g0001	1	306	0.0033	19	c.13 others(30): Show c.1396_*1397insAATGACTTGCTTTTTCTCC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		9		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	306	0.0033	19	c.26 others(30): Show c.2619_*2620insCTCTCTCTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(12): Show TTCTCTTCTCTTCTTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	306	0.0033	19	c.26 others(30): Show c.2619_*2620insTCTCTTCTCTTCTTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(12): Show TTCTCTTCTTTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG02080.hp2 HG01981.hp1 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0001 a0001c0001t0010g0001 a0001c0001t0002g0001 a0001c0001t0010g0001	2	306	0.0065	19	c.26 others(30): Show c.2619_*2620insTCTCTTCTTTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXD10_chr2_176111778_176124937	176111826	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG02615.hp2 HG03486.hp1 HG01433.hp1 HG02615.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0016 a0001c0001t0021 a0001c0001t0011 a0001c0001t0016 a0001c0001t0021	a0001c0001t0011g0002 a0001c0001t0016g0002 a0001c0001t0021g0002 a0001c0001t0011g0002 a0001c0001t0016g0002 a0001c0001t0021g0002	3	428	0.0070	19	c.-50 others(30): Show c.-5008_-5007insAAAAAAAAAAAAAAAAAAA	HOXD10	ENSG00000128710.6	transcript	ENST00000249501.5	protein_coding		4951		chr2	TogoVar
HOXD11_chr2_176102280_176114754	176111826	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG02615.hp2 HG03486.hp1 HG01433.hp2 HG02615.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0003g0010 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0003g0010	3	430	0.0070	19	c.26 others(30): Show c.2684_*2685insAAAAAAAAAAAAAAAAAAA	HOXD11	ENSG00000128713.14	transcript	ENST00000249504.7	protein_coding		2073		chr2	TogoVar
HPD_chr12_121834527_121863859	121834987	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	406	0.0025	19	c.47 others(30): Show c.4740_*4741insGAAAGAAAGAAAGAAAGAA	HPD	ENSG00000158104.11	transcript	ENST00000289004.8	protein_coding		4539		chr12	TogoVar
HPD_chr12_121834527_121863859	121835028	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01255.hp1 HG03209.hp1 others(2): Show HG01243.hp2 HG01255.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0013 a0003c0003 a0001c0001 a0001c0013 a0003c0003	a0001c0001t0001 a0001c0013t0001 a0003c0003t0001 a0001c0001t0001 a0001c0013t0001 a0003c0003t0001	a0001c0001t0001g0011 a0001c0001t0001g0110 a0001c0001t0001g0180 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0110 a0001c0001t0001g0180 a0001c0013t0001g0048 a0003c0003t0001g0145	5	406	0.0123	19	c.46 others(30): Show c.4699_*4700insGAAAGAAAGAAAGAAAGAA	HPD	ENSG00000158104.11	transcript	ENST00000289004.8	protein_coding		4498		chr12	TogoVar

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