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
GUCY1A2_chr11_106669019_107023476	106698119	A A	ATTTTTTT others(34): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0010g0033 a0001c0001t0010g0034	2	256	0.0078	41	c.199 others(62): Show c.1992-10364_1992-10363insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	7/7			chr11	TogoVar
HACL1_chr3_15555699_15606569	15588788	T T	TTTCAAGT others(34): Show TTTCAAGTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0370 a0001c0002t0001g0370	1	428	0.0023	41	c.381 others(56): Show c.381+751_381+752insGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AGAAACTTGAA	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	5/16			chr3	TogoVar
HBZ_chr16_147644_159503	154159	C C	CGGTGCGG others(34): Show CGGTGCGGTGCGGGGCCGCGGGGCGGGGCGGGGTCGCGGGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02970.hp1 HG02055.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	2	432	0.0046	41	c.300 others(54): Show c.300+65_300+66insTGCGGTGCGGGGCCGCGGGGCGGGGCGGGGTC GCGGGGAGG	HBZ	ENSG00000130656.6	transcript	ENST00000252951.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
HCN2_chr19_584881_622159	620882	T T	TGGGGGCG others(34): Show TGGGGGCGCCAGGGGAGGGGGAGGGGAGGAGGAAGACGGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 NA19240.hp1 HG02818.hp1 NA19240.hp1	a0001 a0001	a0001c0014 a0001c0023 a0001c0014 a0001c0023	a0001c0014t0024 a0001c0023t0004 a0001c0014t0024 a0001c0023t0004	a0001c0014t0024g0248 a0001c0023t0004g0247 a0001c0014t0024g0248 a0001c0023t0004g0247	2	408	0.0049	41	c.44 others(52): Show c.4408_*4409insGGGGGCGCCAGGGGAGGGGGAGGGGAGGAGGAAG ACGGGCA	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding		3724		chr19	TogoVar
HCN4_chr15_73314859_73373958	73373717	G G	GAAAGAAA others(34): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0285 a0001c0001t0004g0285	1	344	0.0029	41	c.-54 others(52): Show c.-5448_-5447insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT	HCN4	ENSG00000138622.4	transcript	ENST00000261917.4	protein_coding		4760		chr15	TogoVar
HDAC9_chr7_18490749_19007416	18786454	T T	TTTCCTTC others(34): Show TTTCCTTCCTTCCTTCCTTTCTTCCTTCCTTCCTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	156	0.0064	41	c.221 others(60): Show c.2215-6877_2215-6876insCCTTTCTTCCTTCCTTCCTCTTCTTC CTTCCTTCCTTCCTT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDDC2_chr6_125270350_125306967	125301482	G G	GCACACAC others(34): Show GCACACACACACACACACGTCGTGAGCGCGCGCGCGCACACA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0062 a0001c0001t0005g0062	1	374	0.0027	41	c.84+ others(54): Show c.84+366_84+367insTGTGTGCGCGCGCGCGCTCACGACGTGTGTGT GTGTGTGTG	HDDC2	ENSG00000111906.18	transcript	ENST00000398153.7	protein_coding	1/5			chr6	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	314	0.0032	41	c.591 others(60): Show c.5912-2422_5912-2421insATATATATATATATATATATATTTTT TTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02723.hp2 HG01952.hp1 HG02723.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0019 a0001c0005t0001g0052 a0001c0005t0001g0019 a0001c0005t0001g0052	2	314	0.0064	41	c.591 others(60): Show c.5912-2422_5912-2421insATATATATATATATATATATATATTT TTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03239.hp1 HG01358.hp2 HG03239.hp1	a0001 a0001	a0001c0005 a0001c0012 a0001c0005 a0001c0012	a0001c0005t0001 a0001c0012t0004 a0001c0005t0001 a0001c0012t0004	a0001c0005t0001g0138 a0001c0012t0004g0306 a0001c0005t0001g0138 a0001c0012t0004g0306	2	314	0.0064	41	c.591 others(60): Show c.5912-2422_5912-2421insATATATATATATATATATATATATAT TTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(34): Show AAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0214 a0001c0002t0001g0214	1	314	0.0032	41	c.591 others(60): Show c.5912-2422_5912-2421insATATATATATATATATATATATATAT ATATATATTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR6_chr17_60036008_60083921	60048983	A A	AATATATA others(34): Show AATATATATATATATATATATATATATATATATATAATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	250	0.0040	41	c.254 others(58): Show c.2547+596_2548-595insATATATTATATATATATATATATATATA TATATATATATAT	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	16/19			chr17	TogoVar
HECA_chr6_139130080_139185802	139182881	G G	GGGTCAAA others(34): Show GGGTCAAAGGATGGTAGTCTTGTAACTATTTATCTAAGTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0025 a0001c0001t0031g0025	1	314	0.0032	41	c.57 others(52): Show c.5776_*5777insGGTCAAAGGATGGTAGTCTTGTAACTATTTATCT AAGTTCA	HECA	ENSG00000112406.5	transcript	ENST00000367658.3	protein_coding		2080		chr6	TogoVar
HECTD1_chr14_31095117_31212793	31096676	C C	CATTATAT others(34): Show CATTATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02647.hp1 HG02055.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0314 a0001c0002t0001g0320 a0001c0002t0001g0314 a0001c0002t0001g0320	2	342	0.0059	41	c.42 others(52): Show c.4253_*4254insATATATATATATATATATATATATATATATATAT ATATAAT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding		3440		chr14	TogoVar
HELQ_chr4_83402346_83460823	83449736	G G	GGCAAATG others(34): Show GGCAAATGGCCAATAAATACATGGCCAATAAGCAGCAGAAAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0114 a0005c0007t0001g0114	1	316	0.0032	41	c.101 others(58): Show c.1013-816_1013-776dupATTTCTGCTGCTTATTGGCCATGTATTT ATTGGCCATTTGC	HELQ	ENSG00000163312.11	transcript	ENST00000295488.8	protein_coding	2/17			chr4	TogoVar
HELZ2_chr20_63553086_63579239	63559384	A A	AGTCAGAT others(34): Show AGTCAGATGGGAGTCAGTCAGGGTCAGGTGGGAGGAGTCAGG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0013 a0004c0004t0013	a0004c0004t0013g0100 a0004c0004t0013g0100	1	390	0.0026	41	c.782 others(56): Show c.7826-55_7826-15dupCCTGACTCCTCCCACCTGACCCTGACTGAC TCCCATCTGAC	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19			chr20	TogoVar
HERC1_chr15_63603618_63838948	63737547	A A	ATCTTTTT others(34): Show ATCTTTTTTCCAGATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0007 a0004c0007t0001g0007	1	216	0.0046	41	c.252 others(60): Show c.2521-2699_2521-2698insGATATATATATATATATATATATATA TATCTGGAAAAAAGA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	12/77			chr15	TogoVar
HES2_chr1_6410232_6424919	6417743	C C	CCGCGCAA others(34): Show CCGCGCAACCCTTTCTCCTAGCCTATTTTATACCTTCTTGCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0040 a0001c0001t0036g0040	1	362	0.0028	41	c.11 others(52): Show c.1129_*1130insTGCAAGAAGGTATAAAATAGGCTAGGAGAAAGGG TTGCGCG	HES2	ENSG00000069812.11	transcript	ENST00000377834.8	protein_coding	4/4	1129		chr1	TogoVar
HEY1_chr8_79759010_79772767	79769371	A A	ATCTTTTT others(34): Show ATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	460	0.0022	41	c.-17 others(52): Show c.-1709_-1708insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAGA	HEY1	ENSG00000164683.19	transcript	ENST00000354724.8	protein_coding		1605		chr8	TogoVar
HHAT_chr1_210323902_210681290	210526367	G G	GTTTTGTT others(34): Show GTTTTGTTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0264 a0002c0003t0002g0264	1	268	0.0037	41	c.104 others(62): Show c.1043+13183_1043+13184insGTTTTGTTTTGTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HIKESHI_chr11_86297240_86350943	86318303	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	398	0.0025	41	c.268 others(60): Show c.268+11841_268+11842insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIVEP2_chr6_142746469_142950176	142793673	T T	TTCTTTCT others(34): Show TTCTTTCTTTCTTTTTTTTTTCTTTCTTTCTTTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01099.hp1 HG01256.hp2 others(5): Show HG00438.hp1 HG01099.hp1 HG01256.hp2 HG01258.hp2 HG01975.hp1 HG03017.hp1 HG03017.hp2 HG04115.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0005c0019	a0001c0001t0001 a0001c0002t0002 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0007t0001 a0005c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0134 a0001c0002t0002g0007 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0134 a0001c0002t0002g0007 a0001c0002t0002g0024 a0001c0002t0002g0052 a0001c0007t0001g0186 a0005c0019t0001g0019 a0005c0019t0001g0104	8	288	0.0278	41	c.-52 others(62): Show c.-527-10059_-527-10058insGAGAGAGAGAAAGAAAGAAAGAAA AAAAAAAGAAAGAAAGA	HIVEP2	ENSG00000010818.11	transcript	ENST00000367603.8	protein_coding	2/9			chr6	TogoVar
HLA-DRA_chr6_32434887_32450046	32449547	G G	GGAGGAAA others(34): Show GGAGGAAAAGGAAAGAGAGAAGAAGAAAAAGGAAGAAGGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0014 a0002c0004t0005g0014	1	459	0.0022	41	c.49 others(52): Show c.4907_*4908insGAGGAAAAGGAAAGAGAGAAGAAGAAAAAGGAAG AAGGAAA	HLA-DRA	ENSG00000204287.14	transcript	ENST00000395388.7	protein_coding		4502		chr6	TogoVar
HMCN2_chr9_130260760_130439123	130312505	G G	GTCTCTCT others(34): Show GTCTCTCTCTCCCTCCCTCCCTCCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0170 a0170	a0170c0193 a0170c0193	a0170c0193t0002 a0170c0193t0002	a0170c0193t0002g0223 a0170c0193t0002g0223	1	258	0.0039	41	c.235 others(60): Show c.2350+2446_2350+2447insTCTCTCTCCCTCCCTCCCTCCCCTCC CTCCCTCCCTCCCTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMMR_chr5_163455632_163496941	163494876	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	406	0.0025	41	c.37 others(52): Show c.3712_*3713insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	HMMR	ENSG00000072571.20	transcript	ENST00000393915.9	protein_coding		2936		chr5	TogoVar
HOMER2_chr15_82843983_82957720	82868541	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	348	0.0029	41	c.295 others(58): Show c.295-4283_295-4282insATATATATATATATATATATATATATAT ATATATATATATA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868541	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01258.hp1 HG01358.hp2 HG01099.hp1 HG01258.hp1 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0147	3	348	0.0086	41	c.295 others(58): Show c.295-4283_295-4282insAAAAAAATATATATATATATATATATAT ATATATATATATA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868542	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	348	0.0029	41	c.295 others(58): Show c.295-4284_295-4283insTATATATATATATATATATATATATATA TATATATATATAT	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOXC8_chr12_54003985_54017769	54014003	T T	TCTTCTCT others(34): Show TCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG02970.hp1 NA18945.hp1 others(1): Show HG01517.hp2 HG02970.hp1 NA18945.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0043 a0001c0001t0001 a0001c0001t0011 a0001c0001t0043	a0001c0001t0001g0001 a0001c0001t0011g0001 a0001c0001t0043g0001 a0001c0001t0001g0001 a0001c0001t0011g0001 a0001c0001t0043g0001	4	306	0.0131	41	c.26 others(52): Show c.2622_*2623insCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTC TCTTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1235		chr12	TogoVar
HPCAL4_chr1_39673648_39696433	39686795	G G	GCAGAGTC others(34): Show GCAGAGTCTGGGTTTCCCAGGACATGGCTTGGGAGGTGCCTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA21309.hp1 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0021 a0001c0002t0004 a0001c0002t0021	a0001c0002t0004g0081 a0001c0002t0021g0090 a0001c0002t0004g0081 a0001c0002t0021g0090	2	420	0.0048	41	c.-8- others(56): Show c.-8-2225_-8-2185dupGAGGCACCTCCCAAGCCATGTCCTGGGAAA CCCAGACTCTG	HPCAL4	ENSG00000116983.13	transcript	ENST00000372844.8	protein_coding	1/3			chr1	TogoVar
HPGDS_chr4_94293535_94347836	94340305	C C	CTTTCTTT others(34): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTTCT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	312	0.0032	41	c.-10 others(58): Show c.-10+2489_-10+2490insAGAAAAGAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HROB_chr17_44136930_44167476	44166719	T T	TGGGGGGG others(34): Show TGGGGGGGGGGTGGGGGGGGGGGGGGGGACCGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0023	1	322	0.0031	41	c.47 others(52): Show c.4787_*4788insGGGGGGGGGGTGGGGGGGGGGGGGGGGACCGGGG GGGGGGG	HROB	ENSG00000125319.15	transcript	ENST00000585683.6	protein_coding		4244		chr17	TogoVar
HS6ST3_chr13_96085107_96844562	96304714	T T	TCTTTCTT others(34): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03688.hp1 HG02080.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0001 a0001c0001t0032	a0001c0001t0001g0070 a0001c0001t0032g0017 a0001c0001t0001g0070 a0001c0001t0032g0017	2	116	0.0172	41	c.707 others(62): Show c.707+213145_707+213146insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTC	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1			chr13	TogoVar
HSPA4_chr5_133047013_133111449	133085489	T T	TAAAAAAA others(34): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0117 a0001c0001t0014g0117	1	364	0.0028	41	c.909 others(58): Show c.909-1280_909-1279insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
HUWE1_chrX_53527096_53691719	53579197	G G	GGGGGGGG others(34): Show GGGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	214	0.0047	41	c.571 others(60): Show c.5716+1633_5716+1634insACCTCCCTCCCGGACGGGGCGGCTGG CCGACCCCCCCCCCC	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	43/83			chrX	TogoVar
IDE_chr10_92446684_92579093	92524489	T T	TTATATAT others(34): Show TTATATATATTATATATAAAATATAATATATATTATATTATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0298 a0001c0001t0002g0298	1	314	0.0032	41	c.661 others(58): Show c.661+7258_661+7259insTATAATATAATATATATTATATTTTATA TATAATATATATA	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IER3IP1_chr18_47147834_47181364	47176086	T T	TTGGCTGG others(34): Show TTGGCTGGGTCGACCGGGCCCGGGGCTCCGTGGGGTCCGGCC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0201 a0001c0001t0006g0201	1	378	0.0027	41	c.91+ others(54): Show c.91+100_91+101insGGCCGGACCCCACGGAGCCCCGGGCCCGGTCG ACCCAGCCA	IER3IP1	ENSG00000134049.6	transcript	ENST00000256433.6	protein_coding	1/2			chr18	TogoVar
IFFO2_chr1_18899280_18961676	18926119	A A	ATGGATGG others(34): Show ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp1 HG01243.hp1 others(20): Show HG00642.hp2 HG01109.hp1 HG01243.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02257.hp2 HG02258.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG03209.hp1 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0020 a0001c0001t0022 a0001c0001t0040 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0006t0004	a0001c0001t0001g0090 a0001c0001t0002g0358 a0001c0001t0002g0359 others(20): Show a0001c0001t0001g0090 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0004g0080 a0001c0001t0004g0083 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0092 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0117 a0001c0001t0005g0120 a0001c0001t0008g0081 a0001c0001t0020g0091 a0001c0001t0022g0370 a0001c0001t0022g0371 a0001c0001t0022g0372 a0001c0001t0040g0093 a0001c0001t0060g0369 a0001c0001t0061g0367 a0001c0001t0062g0368 a0001c0006t0004g0107	23	376	0.0612	41	c.666 others(58): Show c.666-4999_666-4998insACCATCCATCCATCCATCCAACCAATCC ATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFITM10_chr11_1727406_1755595	1754525	G G	GGGGATGT others(34): Show GGGGATGTGGGGATGGAGGGATGGAGGGATGGAGGGGATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 NA18612.hp2 NA19090.hp2 HG00544.hp2 NA18612.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0039 a0001c0001t0001g0130 a0001c0001t0001g0004 a0001c0001t0001g0039 a0001c0001t0001g0130	3	406	0.0074	41	c.-40 others(52): Show c.-4084_-4083insTCCATCCCCTCCATCCCTCCATCCCTCCATCCCC ACATCCC	IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding		3931		chr11	TogoVar
IFITM10_chr11_1727406_1755595	1754561	G G	GATGGAGG others(34): Show GATGGAGGGATGGAGGGATGGAGGGATGGAGGGGATGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0076 a0001c0002t0001g0036 a0001c0002t0001g0076	2	406	0.0049	41	c.-41 others(52): Show c.-4120_-4119insTCCTCCATCCCCTCCATCCCTCCATCCCTCCATC CCTCCAT	IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding		3967		chr11	TogoVar
IFNA13_chr9_21362372_21373057	21366755	A A	AAACAAAA others(34): Show AAACAAAACCCCAACTCTGCCCCCAAACCCACTGCAACCTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0000 a0001c0004t0001g0000	1	466	0.0022	41	c.68 others(50): Show c.682_*683insGTAGGTTGCAGTGGGTTTGGGGGCAGAGTTGGGGTT TTGTT	IFNA13	ENSG00000233816.4	transcript	ENST00000610660.2	protein_coding		616		chr9	TogoVar
IFNAR1_chr21_33319970_33364864	33322444	T T	TATATATG others(34): Show TATATATGGAATATATATATGGAATATATATATGCAATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	323	0.0031	41	c.-26 others(52): Show c.-2612_-2611insATATATGGAATATATATATGGAATATATATATGC AATATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2525		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323541	T T	TATATGGA others(34): Show TATATGGAATATAGAGATGGAATATAGAGATGGAATATAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0077 a0001c0001t0037g0077	1	323	0.0031	41	c.-15 others(52): Show c.-1515_-1514insATATGGAATATAGAGATGGAATATAGAGATGGAA TATAGAG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1428		chr21	TogoVar
IFT80_chr3_160251986_160404225	160312583	A A	AATATATA others(34): Show AATATATATAATAAATATATATTATATATAAATATATAATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01358.hp2 HG04204.hp1 HG00323.hp1 HG01358.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0147	3	212	0.0142	41	c.958 others(58): Show c.958-4843_958-4803dupATATTATATATTTATATATAATATATAT TTATTATATATAT	IFT80	ENSG00000068885.15	transcript	ENST00000326448.12	protein_coding	9/19			chr3	TogoVar
IGFL4_chr19_46034182_46046002	46034734	A A	AATTATAT others(34): Show AATTATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	454	0.0022	41	c.51 others(52): Show c.5157_*5158insATATATATATATATATATATATATATATATATAT ATATAAT	IGFL4	ENSG00000204869.9	transcript	ENST00000377697.2	protein_coding		4447		chr19	TogoVar
IGSF21_chr1_18102798_18383483	18273458	C C	CTTTCTCT others(34): Show CTTTCTCTCTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0206	1	248	0.0040	41	c.184 others(60): Show c.184-18407_184-18406insTTCTCTCTCTTTCTTTTCTTTCTTTC TTTCTTTCTTTCTTT	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL15RA_chr10_5947384_5982543	5969357	A A	ATTTAATT others(34): Show ATTTAATTAAATTTTTAAAATTAAAATTTTTAAATTAAATTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02451.hp2 others(4): Show HG01891.hp1 HG02109.hp1 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02818.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0003t0004 a0001c0006t0002 a0001c0001t0001 a0001c0003t0004 a0001c0006t0002	a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0003t0004g0042 others(3): Show a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0003t0004g0042 a0001c0003t0004g0161 a0001c0003t0004g0162 a0001c0006t0002g0192	7	456	0.0154	41	c.89- others(56): Show c.89-3019_89-3018insAAATTTAATTTAAAAATTTTAATTTTAAAA ATTTAATTAAA	IL15RA	ENSG00000134470.21	transcript	ENST00000379977.8	protein_coding	1/6			chr10	TogoVar
IL16_chr15_81191879_81319058	81243163	A A	ATATATAT others(34): Show ATATATATACATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18995.hp1 NA18951.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0284 a0001c0002t0003g0285 a0001c0002t0003g0284 a0001c0002t0003g0285	2	342	0.0059	41	c.313 others(60): Show c.313-16608_313-16607insATATATACATATATATATATATATAT ATATATATATTTTTT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL16_chr15_81191879_81319058	81243163	A A	ATATATAT others(34): Show ATATATATACATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0281 a0001c0002t0003g0281	1	342	0.0029	41	c.313 others(60): Show c.313-16608_313-16607insATATATACATATATATATATATATAT ATATATTTTTTTTTT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL16_chr15_81191879_81319058	81243163	A A	ATATATAT others(34): Show ATATATATATACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0293 a0001c0002t0003g0293	1	342	0.0029	41	c.313 others(60): Show c.313-16608_313-16607insATATATATACATATATATATATATAT ATATATATATATATT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar

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