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
GSTM2_chr1_109663057_109680286	109670103	A A	AGGGGAGG others(37): Show AGGGGAGGTGGGGGGGGGAGGGGGGAGGGGGGGTGGCCTCCTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03927.hp2 HG03139.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0051 a0001c0001t0001g0052	2	356	0.0056	44	c.360 others(59): Show c.360+532_360+533insGGGGAGGTGGGGGGGGGAGGGGGGAGGGGG GGTGGCCTCCTTTT	GSTM2	ENSG00000213366.13	transcript	ENST00000241337.9	protein_coding	5/7			chr1	TogoVar
GSTM2_chr1_109663057_109680286	109670103	A A	AGGGGAGG others(37): Show AGGGGAGGTTGGGGGGGAGGGGGGAAGGGGGGGTGGCCTCCTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	356	0.0028	44	c.360 others(59): Show c.360+532_360+533insGGGGAGGTTGGGGGGGAGGGGGGAAGGGGG GGTGGCCTCCTTTT	GSTM2	ENSG00000213366.13	transcript	ENST00000241337.9	protein_coding	5/7			chr1	TogoVar
GSX2_chr4_54095163_54107498	54107280	A A	AGGGGGAG others(37): Show AGGGGGAGGGGGGGGGGGGGCGAGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	372	0.0027	44	c.53 others(55): Show c.5358_*5359insGGGGGAGGGGGGGGGGGGGCGAGGGGGGGGGGGG GGGGGGGGGG	GSX2	ENSG00000180613.11	transcript	ENST00000326902.7	protein_coding		4783		chr4	TogoVar
GTDC1_chr2_143933068_144337512	144133214	C C	CATATATA others(37): Show CATATATAAATATATATTTATATTTATATATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0034	a0002c0002t0034g0119 a0002c0002t0034g0119	1	124	0.0081	44	c.521 others(61): Show c.521+8624_521+8667dupATTTATATATATTTATATATAAATATAA ATATATATTTATATAT	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTDC1_chr2_143933068_144337512	144136395	A A	AAAGGAAA others(37): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03195.hp1 HG03453.hp2 HG02622.hp1 HG03195.hp1 HG03453.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0001 a0001c0001t0008 a0006c0013t0045 a0001c0001t0001 a0001c0001t0008 a0006c0013t0045	a0001c0001t0001g0117 a0001c0001t0008g0057 a0006c0013t0045g0101 a0001c0001t0001g0117 a0001c0001t0008g0057 a0006c0013t0045g0101	3	124	0.0242	44	c.521 others(61): Show c.521+5486_521+5487insCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTT	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTF2H5_chr6_158163350_158204344	158169495	T T	TTATATAT others(37): Show TTATATATAATATACAGTATAATATATATAATATACAGTATATTA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0284 a0001c0001t0017g0284	1	384	0.0026	44	c.-34 others(59): Show c.-34-969_-34-968insTAATATACAGTATAATATATATAATATACA GTATATTATATATA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158175044	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTGTATATGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0188 a0001c0001t0103g0188	1	384	0.0026	44	c.35+ others(59): Show c.35+4507_35+4508insGTGTGTGTGTGTGTGTGTATATGTGTGTGT GTGTGTGTGTGTAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158175044	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0196 a0001c0001t0045g0196	1	384	0.0026	44	c.35+ others(59): Show c.35+4507_35+4508insGTGTGTGTGTGTGTGTGTGTGTGTGTATGT GTGTGTGTGTGTAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTPBP10_chr7_90341716_90396453	90344200	G G	GTGTATAT others(37): Show GTGTATATATGTATATATGTATATATGTGTATATATGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	390	0.0026	44	c.-25 others(55): Show c.-2542_-2541insTGTATATATGTATATATGTATATATGTGTATATA TGTATATATA	GTPBP10	ENSG00000105793.16	transcript	ENST00000222511.11	protein_coding		2515		chr7	TogoVar
GTPBP10_chr7_90341716_90396453	90344226	G G	GTGTATAT others(37): Show GTGTATATATGTATATATATGTATATATGTGTATATATGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0120 a0001c0001t0007g0120	1	390	0.0026	44	c.-25 others(55): Show c.-2516_-2515insTGTATATATGTATATATATGTATATATGTGTATA TATGTATATA	GTPBP10	ENSG00000105793.16	transcript	ENST00000222511.11	protein_coding		2489		chr7	TogoVar
GUCA1B_chr6_42178284_42199956	42188902	A A	ATCTATCT others(37): Show ATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATATC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03098.hp2 NA18522.hp1 HG02809.hp1 HG03098.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0015 a0001c0002t0018 a0001c0002t0009 a0001c0002t0015 a0001c0002t0018	a0001c0002t0009g0167 a0001c0002t0015g0115 a0001c0002t0018g0051 a0001c0002t0009g0167 a0001c0002t0015g0115 a0001c0002t0018g0051	3	418	0.0072	44	c.208 others(59): Show c.208-172_208-171insGATATAGATAGATAGATAGATAGATAGATA GATAGATAGATAGA	GUCA1B	ENSG00000112599.9	transcript	ENST00000230361.4	protein_coding	1/3			chr6	TogoVar
GUCY1A2_chr11_106669019_107023476	106698119	A A	ATTTTTTT others(37): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp1 HG01109.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0010 a0001c0006t0025 a0001c0001t0010 a0001c0006t0025	a0001c0001t0010g0100 a0001c0006t0025g0209 a0001c0001t0010g0100 a0001c0006t0025g0209	2	256	0.0078	44	c.199 others(65): Show c.1992-10364_1992-10363insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	7/7			chr11	TogoVar
GYG2_chrX_2823930_2887818	2845005	T T	TTATATAC others(37): Show TTATATACACATGTGTATGTATATTTATATACACATGTGTATGTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03130.hp1 HG02257.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0107 a0002c0002t0005g0113 a0002c0002t0002g0107 a0002c0002t0005g0113	2	316	0.0063	44	c.149 others(61): Show c.149+1661_149+1704dupATGTGTATGTATATTTATATACACATGT GTATGTATATATACAC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845039	A A	ATGTGTAT others(37): Show ATGTGTATGTATATATACACATGTGTATGTATATTTATATACACG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0118 a0002c0002t0007g0118	1	316	0.0032	44	c.149 others(61): Show c.149+1704_149+1705insATGTGTATGTATATTTATATACACGTGT GTATGTATATATACAC	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18973.hp2 NA18952.hp2 NA18973.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0011 a0003c0004t0001g0011	2	422	0.0047	44	c.-46 others(55): Show c.-4694_-4693insCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCC TTCCTTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H3Y2_chr5_17485967_17497076	17493385	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01993.hp1 HG02074.hp2 others(9): Show HG01433.hp1 HG01993.hp1 HG02074.hp2 HG02135.hp1 HG02165.hp2 HG02300.hp1 HG02572.hp2 HG02922.hp2 HG03098.hp2 HG03927.hp2 NA18985.hp2 NA19075.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0002c0003t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000 a0002c0003t0001g0000	12	400	0.0300	44	c.-16 others(55): Show c.-1618_-1617insATATATATATATATATATATATATATATATATAT ATATATATAT	H3Y2	ENSG00000268799.4	transcript	ENST00000600799.3	protein_coding		1310		chr5	TogoVar
H3Y2_chr5_17485967_17497076	17493385	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	400	0.0025	44	c.-16 others(55): Show c.-1618_-1617insATATACATATATATATATATATATATATATATAT ATATATATAT	H3Y2	ENSG00000268799.4	transcript	ENST00000600799.3	protein_coding		1310		chr5	TogoVar
HAO2_chr1_119363785_119399130	119389138	A A	ATATATAT others(37): Show ATATATATATATATATATATATATGTATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0253 a0002c0003t0005g0253	1	428	0.0023	44	c.771 others(61): Show c.771+2330_771+2331insGTATATATATATATATGTGTGTATATAT ATATATATATATATAT	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
HAUS2_chr15_42543838_42574994	42544850	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0041 a0001c0001t0006g0041	1	350	0.0029	44	c.-40 others(55): Show c.-4023_-4022insTATATATATATATATATATATATATATATATATA TATATATATG	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding		3987		chr15	TogoVar
HAUS3_chr4_2223349_2247121	2243915	A A	AACAGAGA others(37): Show AACAGAGAGACAGAGACAGAGAGACAGAGACAGAGACAGAGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02965.hp1 HG02145.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	330	0.0061	44	c.-22 others(55): Show c.-2284_-2283insGTCTCTCTGTCTCTGTCTCTGTCTCTCTGTCTCT GTCTCTCTGT	HAUS3	ENSG00000214367.10	transcript	ENST00000443786.3	protein_coding		1795		chr4	TogoVar
HAVCR1_chr5_157024413_157064116	157044441	A A	AAGAAAGA others(37): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0192 a0010c0015t0001g0192	1	352	0.0028	44	c.782 others(61): Show c.782-1760_782-1759insCTCTCTCTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HCN2_chr19_584881_622159	604650	C C	CAATGCGG others(37): Show CAATGCGGGTTTTGCTGGGGCAGGGCCAGACATCAGGGGTGGGGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp2 HG02145.hp2 HG02280.hp2	a0002 a0002	a0002c0012 a0002c0068 a0002c0012 a0002c0068	a0002c0012t0001 a0002c0068t0004 a0002c0012t0001 a0002c0068t0004	a0002c0012t0001g0359 a0002c0068t0004g0358 a0002c0012t0001g0359 a0002c0068t0004g0358	2	408	0.0049	44	c.105 others(61): Show c.1057-411_1057-410insAATGCGGGTTTTGCTGGGGCAGGGCCAG ACATCAGGGGTGGGGA	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	2/7			chr19	TogoVar
HCN4_chr15_73314859_73373958	73316252	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0074 a0001c0003t0001g0074	1	344	0.0029	44	c.62 others(55): Show c.6228_*6229insATATATATATATATATATATATATATATATATAT ATATATATAT	HCN4	ENSG00000138622.4	transcript	ENST00000261917.4	protein_coding		3606		chr15	TogoVar
HCN4_chr15_73314859_73373958	73373715	G G	GAGAAAGA others(37): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0288 a0001c0001t0006g0288	1	344	0.0029	44	c.-54 others(55): Show c.-5446_-5445insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	HCN4	ENSG00000138622.4	transcript	ENST00000261917.4	protein_coding		4758		chr15	TogoVar
HDAC9_chr7_18490749_19007416	18732896	C C	CACACACG others(37): Show CACACACGTGTGCGTATGTGTATACACACGTGTGCGTATGTGTAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0065 a0001c0009t0002g0065	1	156	0.0064	44	c.190 others(63): Show c.1909+5172_1909+5173insCGTATGTGTATACACACGTGTGCGTA TGTGTATACACACGTGTG	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18786454	T T	TTTCCTTC others(37): Show TTTCCTTCCTTCCTTCCTTTCTTCCTTCCTTCCTTTCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0013 a0001c0001t0021g0013	1	156	0.0064	44	c.221 others(63): Show c.2215-6877_2215-6876insCCTTTCTTCCTTCCTTCCTTTCTTCC TTCCTTCCTTCCTTCCTT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18786486	C C	CTTCCTTC others(37): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0040 a0001c0001t0047g0040	1	156	0.0064	44	c.221 others(63): Show c.2215-6838_2215-6837insTCCTTCCTTCCTTCCTTCCTTCATTC CTTCCTTCCTTCCTTCCT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDHD3_chr9_113368422_113381986	113381412	C C	CCTCCCTC others(37): Show CCTCCCTCCCTCCCTCCCTCTCTCTCTCCCTCCCTCCCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	464	0.0043	44	c.-49 others(55): Show c.-4975_-4974insAGAGAGAGGGAGGGAGGGAGAGAGAGAGGGAGGG AGGGAGGGAG	HDHD3	ENSG00000119431.10	transcript	ENST00000374180.4	protein_coding		4427		chr9	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0029 a0001c0005t0001g0029	1	314	0.0032	44	c.591 others(63): Show c.5912-2422_5912-2421insATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA19007.hp2 HG01261.hp1 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0261 a0001c0002t0001g0054 a0001c0002t0001g0261	2	314	0.0064	44	c.591 others(63): Show c.5912-2422_5912-2421insATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03486.hp1 HG02602.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0017 a0001c0005 a0002c0017	a0001c0005t0001 a0002c0017t0001 a0001c0005t0001 a0002c0017t0001	a0001c0005t0001g0021 a0002c0017t0001g0078 a0001c0005t0001g0021 a0002c0017t0001g0078	2	314	0.0064	44	c.591 others(63): Show c.5912-2422_5912-2421insATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GAGATGGA others(37): Show GAGATGGATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01358.hp2 HG01361.hp1 others(6): Show HG00408.hp1 HG01358.hp2 HG01361.hp1 HG01993.hp2 HG02723.hp2 HG03942.hp2 NA18998.hp1 NA19002.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0057 a0001c0002t0001g0208 a0001c0002t0001g0212 others(6): Show a0001c0002t0001g0057 a0001c0002t0001g0208 a0001c0002t0001g0212 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0267 a0001c0005t0001g0023 a0001c0005t0001g0052 a0001c0005t0001g0138	9	314	0.0287	44	c.321 others(61): Show c.3216+709_3216+710insATATATATATATATATATATATATATAT ATATATATATCCATCT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02922.hp1 NA19080.hp2 others(1): Show HG00438.hp1 HG02922.hp1 NA19080.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0001 a0002c0003t0002 a0001c0004t0001 a0002c0003t0002	a0001c0004t0001g0129 a0002c0003t0002g0135 a0002c0003t0002g0169 others(1): Show a0001c0004t0001g0129 a0002c0003t0002g0135 a0002c0003t0002g0169 a0002c0003t0002g0189	4	314	0.0127	44	c.321 others(61): Show c.3216+709_3216+710insATATATATATATATATATATATATATAT ATATATATATATATAT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HECTD4_chr12_112155195_112387431	112323947	C C	CTTCTTTC others(37): Show CTTCTTTCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0094 a0002c0006t0002g0094	1	270	0.0037	44	c.178 others(61): Show c.178-4206_178-4205insAGAAAGAAAGAAAGAAAGAAAGAAAGGA AGAAAGAAAGAAAGAA	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112323973	C C	CCTTTCTT others(37): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	270	0.0037	44	c.178 others(61): Show c.178-4232_178-4231insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAG	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECW1_chr7_43107647_43571001	43308246	A A	ATATTTAT others(37): Show ATATTTATATATTATATGATATATTTATATATTATATGATATATT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG02615.hp2 others(1): Show HG01884.hp2 HG02486.hp2 HG02615.hp2 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0012 a0001c0002 a0001c0006 a0001c0012	a0001c0002t0009 a0001c0006t0001 a0001c0012t0007 a0001c0002t0009 a0001c0006t0001 a0001c0012t0007	a0001c0002t0009g0123 a0001c0006t0001g0171 a0001c0012t0007g0079 others(1): Show a0001c0002t0009g0123 a0001c0006t0001g0171 a0001c0012t0007g0079 a0001c0012t0007g0177	4	182	0.0220	44	c.28- others(59): Show c.28-3514_28-3513insTTATATATTATATGATATATTTATATATTA TATGATATATTTAT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(37): Show CACACACACACACACACACACACACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0245 a0001c0002t0038g0245	1	362	0.0028	44	c.373 others(63): Show c.3733+2834_3733+2835insATATATATATATATATATGTGTGTGT GTGTGTGTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(37): Show CACACACACACACACACACACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA19055.hp2 NA19067.hp2 HG03710.hp2 NA19055.hp2 NA19067.hp2	a0008 a0014 a0033 a0008 a0014 a0033	a0008c0012 a0014c0019 a0033c0063 a0008c0012 a0014c0019 a0033c0063	a0008c0012t0017 a0014c0019t0102 a0033c0063t0005 a0008c0012t0017 a0014c0019t0102 a0033c0063t0005	a0008c0012t0017g0226 a0014c0019t0102g0206 a0033c0063t0005g0239 a0008c0012t0017g0226 a0014c0019t0102g0206 a0033c0063t0005g0239	3	362	0.0083	44	c.373 others(63): Show c.3733+2834_3733+2835insATATATATATATATATATATATGTGT GTGTGTGTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(37): Show CACACACACACACACACACACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01358.hp1 HG01496.hp1 others(3): Show HG01071.hp1 HG01358.hp1 HG01496.hp1 HG01975.hp2 HG04199.hp1 NA18993.hp1	a0001 a0005 a0007 others(2): Show a0001 a0005 a0007 a0009 a0014	a0001c0002 a0005c0039 a0007c0015 others(2): Show a0001c0002 a0005c0039 a0007c0015 a0009c0027 a0014c0019	a0001c0002t0001 a0001c0002t0145 a0005c0039t0017 others(3): Show a0001c0002t0001 a0001c0002t0145 a0005c0039t0017 a0007c0015t0005 a0009c0027t0140 a0014c0019t0052	a0001c0002t0001g0130 a0001c0002t0145g0353 a0005c0039t0017g0325 others(3): Show a0001c0002t0001g0130 a0001c0002t0145g0353 a0005c0039t0017g0325 a0007c0015t0005g0269 a0009c0027t0140g0331 a0014c0019t0052g0208	6	362	0.0166	44	c.373 others(63): Show c.3733+2834_3733+2835insATATATATATATATATATATATATGT GTGTGTGTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(37): Show CACACACACACACACACACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00597.hp1 others(3): Show HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00673.hp1 NA18989.hp1 NA19057.hp2	a0001 a0007 a0010 a0001 a0007 a0010	a0001c0002 a0007c0015 a0010c0056 a0001c0002 a0007c0015 a0010c0056	a0001c0002t0001 a0001c0002t0016 a0001c0002t0033 others(3): Show a0001c0002t0001 a0001c0002t0016 a0001c0002t0033 a0007c0015t0005 a0007c0015t0049 a0010c0056t0143	a0001c0002t0001g0096 a0001c0002t0016g0051 a0001c0002t0033g0050 others(3): Show a0001c0002t0001g0096 a0001c0002t0016g0051 a0001c0002t0033g0050 a0007c0015t0005g0287 a0007c0015t0049g0058 a0010c0056t0143g0210	6	362	0.0166	44	c.373 others(63): Show c.3733+2834_3733+2835insATATATATATATATATATATATATAT GTGTGTGTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(37): Show CACACACACACACACACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0061 a0001c0002t0016g0061	1	362	0.0028	44	c.373 others(63): Show c.3733+2834_3733+2835insATATATATATATATATATATATATAT ATGTGTGTGTGTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(37): Show TATATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0042 a0002c0002t0003g0042	1	274	0.0037	44	c.524 others(63): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTCTCTCTATAT ATATATATATATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HERC1_chr15_63603618_63838948	63833753	G G	GCGCACAC others(37): Show GCGCACACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0103 a0002c0017t0001g0103	1	216	0.0046	44	c.-27 others(57): Show c.-27+73_-27+74insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGCG	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	1/77			chr15	TogoVar
HHAT_chr1_210323902_210681290	210526367	G G	GTTTTGTT others(37): Show GTTTTGTTTTGTTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	268	0.0037	44	c.104 others(65): Show c.1043+13183_1043+13184insGTTTTGTTTTGTTTTGTTTTTTTT TTTTTTTTTTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HIKESHI_chr11_86297240_86350943	86340356	A A	ATACTTGA others(37): Show ATACTTGAGAATTGAACTAGTTTCACTAAAATGATAGAAAAGTAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	398	0.0025	44	c.420 others(61): Show c.420+2829_420+2830insTTGAGAATTGAACTAGTTTCACTAAAAT GATAGAAAAGTACTAC	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIP1_chr7_75528298_75743941	75595251	T T	TCTTTCTT others(37): Show TCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	254	0.0039	44	c.185 others(61): Show c.185-2738_185-2737insGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGAAAG	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	2/30			chr7	TogoVar
HIPK3_chr11_33252381_33362023	33272780	C C	CCACCCTT others(37): Show CCACCCTTCCTCCTCCCTCCCACCCTCCCTCCCTTCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03540.hp2 HG02630.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0112 a0001c0001t0004g0113	2	342	0.0059	44	c.-2- others(61): Show c.-2-13632_-2-13631insACCCTTCCTCCTCCCTCCCACCCTCCCT CCCTTCCTCCTTCCTC	HIPK3	ENSG00000110422.12	transcript	ENST00000303296.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
HK1_chr10_69273496_69406882	69332357	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18522.hp2 NA18959.hp2 others(3): Show HG01106.hp1 NA18522.hp2 NA18959.hp2 NA18983.hp1 NA18985.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0009	a0001c0002t0001 a0001c0002t0002 a0001c0003t0013 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0013 a0001c0004t0001 a0001c0009t0007	a0001c0002t0001g0146 a0001c0002t0001g0218 a0001c0002t0002g0037 others(3): Show a0001c0002t0001g0146 a0001c0002t0001g0218 a0001c0002t0002g0037 a0001c0003t0013g0211 a0001c0004t0001g0240 a0001c0009t0007g0195	6	280	0.0214	44	c.76- others(61): Show c.76-11443_76-11442insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	HK1	ENSG00000156515.25	transcript	ENST00000643399.2	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
HK1_chr10_69313847_69406882	69332357	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02735.hp2 HG03704.hp1 others(5): Show HG01106.hp2 HG02735.hp2 HG03704.hp1 NA18522.hp1 NA18959.hp1 NA18983.hp1 NA18985.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010	a0001c0001t0001 a0001c0002t0001 a0001c0003t0003 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0003 a0001c0004t0001 a0001c0010t0001	a0001c0001t0001g0109 a0001c0001t0001g0127 a0001c0002t0001g0012 others(5): Show a0001c0001t0001g0109 a0001c0001t0001g0127 a0001c0002t0001g0012 a0001c0002t0001g0185 a0001c0002t0001g0255 a0001c0003t0003g0067 a0001c0004t0001g0174 a0001c0010t0001g0203	8	296	0.0270	44	c.64- others(61): Show c.64-11443_64-11442insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	HK1	ENSG00000156515.25	transcript	ENST00000359426.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
HK2_chr2_74829127_74898359	74882605	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG01070.hp1 others(11): Show HG00140.hp1 HG00280.hp2 HG01070.hp1 HG01099.hp2 HG01175.hp2 HG01192.hp2 HG02602.hp1 HG02630.hp1 HG02818.hp2 HG02922.hp2 HG03209.hp2 NA18950.hp2 NA18989.hp1 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0002c0004t0004 a0002c0004t0006 a0002c0004t0009 a0002c0004t0038	a0001c0001t0002g0018 a0001c0001t0002g0045 a0001c0001t0002g0130 others(11): Show a0001c0001t0002g0018 a0001c0001t0002g0045 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0298 a0001c0001t0002g0303 a0001c0001t0003g0278 a0001c0001t0005g0279 a0001c0001t0006g0353 a0002c0004t0004g0017 a0002c0004t0004g0293 a0002c0004t0006g0289 a0002c0004t0009g0226 a0002c0004t0038g0348	14	394	0.0355	44	c.183 others(61): Show c.1839+382_1839+383insTATATATATATATATATATATATATATA TATATATATATATATA	HK2	ENSG00000159399.10	transcript	ENST00000290573.7	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar

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