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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
HECTD1_chr14_31095117_31212793	31096676	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG03516.hp1 HG02145.hp1 HG03516.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0080 a0003c0014t0001g0081 a0003c0014t0001g0080 a0003c0014t0001g0081	2	342	0.0059	42	c.42 others(53): Show c.4253_*4254insATATATATATATATATATATATATATATATATAT ATATATAT		HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding					3440		chr14	TogoVar
HECTD4_chr12_112155195_112387431	112324104	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18955.hp1 HG02080.hp1 NA18955.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0096 a0001c0003t0013g0105 a0001c0003t0013g0096 a0001c0003t0013g0105	2	270	0.0074	42	c.178 others(59): Show c.178-4363_178-4362insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGA		HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75						chr12	TogoVar
HECW1_chr7_43107647_43571001	43308072	A A	AATATAAT others(35): Show AATATAATATATTATATATTATATATGTTATATATAATATAAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02809.hp2 HG02922.hp1 HG01109.hp1 HG02809.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0030 a0001c0002t0007 a0001c0002t0028 a0001c0001t0030 a0001c0002t0007 a0001c0002t0028	a0001c0001t0030g0098 a0001c0002t0007g0127 a0001c0002t0028g0173 a0001c0001t0030g0098 a0001c0002t0007g0127 a0001c0002t0028g0173	3	182	0.0165	42	c.28- others(57): Show c.28-3678_28-3637dupATATATTATATATGTTATATATAATATAAC ATATAATATATT		HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	3/29					INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW2_chr2_196189072_196598554	196278133	A A	AAAAAAAA others(35): Show AAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0040 a0001c0009t0001g0040	1	112	0.0089	42	c.313 others(59): Show c.3135+394_3135+395insATATATATATATATATATATATATATAT ATATTTTTTTTTTT		HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	15/28						chr2	TogoVar
HECW2_chr2_196189072_196598554	196597118	T T	TAATAGTG others(35): Show TAATAGTGATTTTCCTAAATTTTGAAACAATCCTAAAAATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0045 a0001c0010t0002g0045	1	112	0.0089	42	c.-36 others(53): Show c.-3647_-3646insCATATTTTTAGGATTGTTTCAAAATTTAGGAAAA TCACTATT		HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding					3565		chr2	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(35): Show CACACACACACACACACACACACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0083 a0002c0003t0015g0083	1	362	0.0028	42	c.373 others(61): Show c.3733+2834_3733+2835insATATATATATATATATGTGTGTGTGT GTGTGTGTGTGTGTGT		HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16						chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(35): Show CACACACACACACACACACACACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0118 a0006c0006t0118	a0006c0006t0118g0297 a0006c0006t0118g0297	1	362	0.0028	42	c.373 others(61): Show c.3733+2834_3733+2835insATATATATATATATATATGTGTGTGT GTGTGTGTGTGTGTGT		HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16						chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(35): Show CACACACACACACACACACACACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18999.hp1 HG02559.hp1 NA18999.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0012 a0001c0002 a0008c0012	a0001c0002t0005 a0008c0012t0013 a0001c0002t0005 a0008c0012t0013	a0001c0002t0005g0298 a0008c0012t0013g0228 a0001c0002t0005g0298 a0008c0012t0013g0228	2	362	0.0055	42	c.373 others(61): Show c.3733+2834_3733+2835insATATATATATATATATATATGTGTGT GTGTGTGTGTGTGTGT		HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16						chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(35): Show CACACACACACACACACACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA18968.hp1 NA18968.hp2 others(1): Show HG01256.hp1 NA18968.hp1 NA18968.hp2 NA18991.hp1	a0001 a0002 a0037 a0001 a0002 a0037	a0001c0002 a0002c0014 a0037c0083 a0001c0002 a0002c0014 a0037c0083	a0001c0002t0051 a0001c0002t0112 a0002c0014t0015 others(1): Show a0001c0002t0051 a0001c0002t0112 a0002c0014t0015 a0037c0083t0046	a0001c0002t0051g0137 a0001c0002t0112g0149 a0002c0014t0015g0116 others(1): Show a0001c0002t0051g0137 a0001c0002t0112g0149 a0002c0014t0015g0116 a0037c0083t0046g0118	4	362	0.0111	42	c.373 others(61): Show c.3733+2834_3733+2835insATATATATATATATATATATATGTGT GTGTGTGTGTGTGTGT		HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16						chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(35): Show CACACACACACACACACACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18966.hp1 HG03491.hp2 NA18966.hp1	a0001 a0014 a0001 a0014	a0001c0002 a0014c0019 a0001c0002 a0014c0019	a0001c0002t0024 a0014c0019t0114 a0001c0002t0024 a0014c0019t0114	a0001c0002t0024g0092 a0014c0019t0114g0205 a0001c0002t0024g0092 a0014c0019t0114g0205	2	362	0.0055	42	c.373 others(61): Show c.3733+2834_3733+2835insATATATATATATATATATATATATGT GTGTGTGTGTGTGTGT		HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16						chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(35): Show CACACACACACACACACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0103 a0001c0002t0103	a0001c0002t0103g0159 a0001c0002t0103g0159	1	362	0.0028	42	c.373 others(61): Show c.3733+2834_3733+2835insATATATATATATATATATATATATAT GTGTGTGTGTGTGTGT		HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16						chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(35): Show CACACACACACACACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0036 a0036	a0036c0064 a0036c0064	a0036c0064t0067 a0036c0064t0067	a0036c0064t0067g0009 a0036c0064t0067g0009	1	362	0.0028	42	c.373 others(61): Show c.3733+2834_3733+2835insATATATATATATATATATATATATAT ATGTGTGTGTGTGTGT		HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16						chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(35): Show CACACACACATATATATATATATATATATATATATATATACAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0051 a0051	a0051c0095 a0051c0095	a0051c0095t0057 a0051c0095t0057	a0051c0095t0057g0317 a0051c0095t0057g0317	1	362	0.0028	42	c.373 others(61): Show c.3733+2834_3733+2835insATGTATATATATATATATATATATAT ATATATATGTGTGTGT		HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16						chr3	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(35): Show TATATATATATATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0239 a0001c0001t0058g0239	1	274	0.0037	42	c.524 others(61): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTCTATATATAT ATATATATATATATAT		HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32						chr17	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(35): Show TATATATATATATATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0046 a0002c0002t0023g0046	1	274	0.0037	42	c.524 others(61): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTATATATATAT ATATATATATATATAT		HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32						chr17	TogoVar
HERC4_chr10_67916905_68080283	68059522	A A	AATATTAT others(35): Show AATATTATATATTATAATATTATATATTATAATATTATATATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	360	0.0028	42	c.226 others(61): Show c.226+13360_226+13361insAATATATAATATTATAATATATAATA TTATAATATATAATAT		HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24						chr10	TogoVar
HERC4_chr10_67916905_68080283	68059862	T T	TTATATAT others(35): Show TTATATATTATAATATTATATATTATAATATTATATATCATAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0296 a0001c0001t0008g0296	1	360	0.0028	42	c.226 others(61): Show c.226+13020_226+13021insTTATGATATATAATATTATAATATAT AATATTATAATATATA		HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24						chr10	TogoVar
HERPUD2_chr7_35627659_35700135	35682326	C C	CGTGTGTG others(35): Show CGTGTGTGTGTGTATATATAGATATATACACATACACACGTGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0013 a0001c0001t0010g0013	1	392	0.0026	42	c.148 others(59): Show c.148-9049_148-9048insACACGTGTGTATGTGTATATATCTATAT ATACACACACACAC		HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8						chr7	TogoVar
HEY1_chr8_79759010_79772767	79769371	A A	ATCTTTTT others(35): Show ATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	460	0.0022	42	c.-17 others(53): Show c.-1709_-1708insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAGA		HEY1	ENSG00000164683.19	transcript	ENST00000354724.8	protein_coding					1605		chr8	TogoVar
HGFAC_chr4_3436968_3454486	3440763	C C	CAACCCCC others(35): Show CAACCCCCCATTCACCGTGCCCCCAGCACCCACCATGCCTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02922.hp2 HG01891.hp2 HG02922.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0006 a0001c0005t0001g0006	2	454	0.0044	42	c.-12 others(53): Show c.-1239_-1238insAACCCCCCATTCACCGTGCCCCCAGCACCCACCA TGCCTCCA		HGFAC	ENSG00000109758.9	transcript	ENST00000382774.8	protein_coding					1204		chr4	TogoVar
HGF_chr7_81694010_81775047	81722854	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0105 a0001c0002t0007g0105	1	272	0.0037	42	c.116 others(61): Show c.1169-2008_1169-2007insGTGTATATATATATATATATATATAT ATATATATATATATAT		HGF	ENSG00000019991.18	transcript	ENST00000222390.11	protein_coding	9/17						chr7	TogoVar
HGS_chr17_81679011_81707121	81706665	C C	CACAAGAA others(35): Show CACAAGAACAGGTCTGATCAATGCCTGAAGACACAGACACCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	414	0.0024	42	c.50 others(53): Show c.5047_*5048insACAAGAACAGGTCTGATCAATGCCTGAAGACACA GACACCCA		HGS	ENSG00000185359.14	transcript	ENST00000329138.9	protein_coding					4545		chr17	TogoVar
HINFP_chr11_119116580_119141059	119129490	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0167 a0001c0001t0003g0167	1	404	0.0025	42	c.182 others(59): Show c.182-1220_182-1219insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT		HINFP	ENSG00000172273.13	transcript	ENST00000350777.7	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr11	TogoVar
HIVEP1_chr6_12007312_12169999	12078719	C C	CACACACA others(35): Show CACACACACACACACACACACACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0220 a0002c0002t0001g0220	1	344	0.0029	42	c.41- others(59): Show c.41-10464_41-10463insCACACACACACACACACACACACATATA TATATATATATATA		HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
HIVEP1_chr6_12007312_12169999	12167589	T T	TACATGTA others(35): Show TACATGTATATATACATGTTATATATACATGTTATATTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0123 a0001c0005t0001g0123	1	344	0.0029	42	c.31 others(53): Show c.3128_*3129insACATGTATATATACATGTTATATATACATGTTAT ATTATATA		HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding					2591		chr6	TogoVar
HK2_chr2_74829127_74898359	74882605	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp2 HG00735.hp2 others(25): Show HG00609.hp1 HG00642.hp2 HG00735.hp2 HG01168.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp2 HG01517.hp2 HG02004.hp1 HG02040.hp1 HG02083.hp1 HG02109.hp1 HG02257.hp2 HG02559.hp2 HG02622.hp2 HG02965.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04228.hp2 NA18961.hp1 NA18962.hp1 NA18969.hp1 NA18971.hp1 NA18983.hp1 NA19009.hp1 NA19081.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0011 a0001c0014 others(3): Show a0001c0001 a0001c0011 a0001c0014 a0002c0004 a0002c0035 a0003c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(9): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0041 a0001c0011t0020 a0001c0014t0001 a0002c0004t0004 a0002c0004t0006 a0002c0004t0026 a0002c0035t0012 a0003c0003t0003	a0001c0001t0002g0033 a0001c0001t0002g0061 a0001c0001t0002g0107 others(25): Show a0001c0001t0002g0033 a0001c0001t0002g0061 a0001c0001t0002g0107 a0001c0001t0002g0124 a0001c0001t0002g0149 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0204 a0001c0001t0002g0296 a0001c0001t0005g0053 a0001c0001t0005g0159 a0001c0001t0005g0270 a0001c0001t0005g0273 a0001c0001t0007g0316 a0001c0001t0007g0386 a0001c0001t0014g0256 a0001c0001t0041g0147 a0001c0011t0020g0345 a0001c0014t0001g0078 a0002c0004t0004g0128 a0002c0004t0004g0151 a0002c0004t0004g0210 a0002c0004t0004g0362 a0002c0004t0006g0108 a0002c0004t0006g0231 a0002c0004t0026g0366 a0002c0035t0012g0343 a0003c0003t0003g0158	28	394	0.0711	42	c.183 others(59): Show c.1839+382_1839+383insTATATATATATATATATATATATATATA TATATATATATATA		HK2	ENSG00000159399.10	transcript	ENST00000290573.7	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
HLA-DRB1_chr6_32573775_32594848	32575894	T T	TGGTGTTC others(35): Show TGGTGTTCACAGCCACGGTTTGGAATACTACAAATTCACTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0003 a0017c0019t0003	a0017c0019t0003g0052 a0017c0019t0003g0052	1	208	0.0048	42	c.31 others(53): Show c.3196_*3197insGTGAGTGAATTTGTAGTATTCCAAACCGTGGCTG TGAACACC		HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding					2880		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722768	G G	GGAAGAAG others(35): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	443	0.0023	42	c.-69 others(51): Show c.-696_-695insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAA		HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding					665		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722774	G G	GGAAGAAG others(35): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	443	0.0023	42	c.-69 others(51): Show c.-690_-689insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAA		HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding					659		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722780	G G	GGAAGAAG others(35): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	443	0.0023	42	c.-68 others(51): Show c.-684_-683insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAA		HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding					653		chr6	TogoVar
HLCS_chr21_36743626_36971669	36868274	G G	GAAGAAAG others(35): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0018 a0001c0001t0008g0018	1	258	0.0039	42	c.189 others(63): Show c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTT		HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10						chr21	TogoVar
HMBOX1_chr8_28885395_29058262	29003555	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	344	0.0029	42	c.587 others(59): Show c.587-5495_587-5494insATATATATATATATATATATATATATAT ATATATATATATAT		HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr8	TogoVar
HMGB2_chr4_173326376_173339358	173331341	T T	TACATATA others(35): Show TACATATATATATATACATATATATATATGTATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	370	0.0027	42	c.73 others(51): Show c.738_*739insGTATATATATATACATATATATATATGTATATATAT ATATGT		HMGB2	ENSG00000164104.12	transcript	ENST00000296503.10	protein_coding					34		chr4	TogoVar
HMGCLL1_chr6_55429373_55584192	55477307	T T	TATTTATA others(35): Show TATTTATATAATATATAATATATATTATATATTATATAATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG01074.hp2 others(14): Show HG00438.hp1 HG00642.hp1 HG01074.hp2 HG01934.hp1 HG02055.hp1 HG02132.hp1 HG02602.hp1 NA18747.hp2 NA18950.hp1 NA18959.hp2 NA18960.hp1 NA18985.hp1 NA19003.hp1 NA19004.hp2 NA19063.hp1 NA19083.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0132 others(14): Show a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0132 a0001c0001t0001g0251 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0207 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0284 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291	17	334	0.0509	42	c.795 others(61): Show c.795+18111_795+18112insTATATTATATAATATATAATATATAT TATATATTATATAAAT		HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8						chr6	TogoVar
HMGN1_chr21_39337315_39354088	39337369	G G	GATATATA others(35): Show GATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02622.hp2 HG00735.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0005g0018 a0001c0001t0001g0001 a0001c0001t0005g0018	2	414	0.0048	42	c.57 others(53): Show c.5742_*5743insATATATATATATATATATATATATATATATATAT ATATATAT		HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding					4945		chr21	TogoVar
HNRNPD_chr4_82347498_82378991	82347971	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 NA18966.hp1 NA18968.hp1 others(3): Show HG00438.hp2 NA18966.hp1 NA18968.hp1 NA18978.hp1 NA19070.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016	a0001c0001t0002g0025 a0001c0001t0002g0126 a0001c0001t0002g0130 others(2): Show a0001c0001t0002g0025 a0001c0001t0002g0126 a0001c0001t0002g0130 a0001c0001t0003g0001 a0001c0001t0016g0144	6	332	0.0181	42	c.62 others(53): Show c.6213_*6214insTATATATATATATATATATATATATATATATATA TATATATA		HNRNPD	ENSG00000138668.20	transcript	ENST00000313899.12	protein_coding					4526		chr4	TogoVar
HOMER2_chr15_82843983_82957720	82868541	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0266 a0001c0001t0004g0266	1	348	0.0029	42	c.295 others(59): Show c.295-4283_295-4282insAATATATATATATATATATATATATATA TATATATATATATA		HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8						chr15	TogoVar
HOXA3_chr7_27102010_27157583	27140001	C C	CAGAGAGA others(35): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02615.hp2 HG02071.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0029 a0001c0001t0008 a0001c0001t0029	a0001c0001t0008g0272 a0001c0001t0029g0276 a0001c0001t0008g0272 a0001c0001t0029g0276	2	326	0.0061	42	c.-39 others(57): Show c.-390+81_-390+82insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCT		HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	2/5						chr7	TogoVar
HOXA5_chr7_27136052_27148681	27140001	C C	CAGAGAGA others(35): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02615.hp1 HG02071.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0003 a0001c0001t0005g0005 a0001c0001t0003g0003 a0001c0001t0005g0005	2	398	0.0050	42	c.18 others(53): Show c.1833_*1834insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT		HOXA5	ENSG00000106004.5	transcript	ENST00000222726.4	protein_coding					1050		chr7	TogoVar
HPRT1_chrX_134455165_134505668	134492048	C C	CACACACA others(35): Show CACACACACACACACACACACACACACACACATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	276	0.0036	42	c.403 others(59): Show c.403-1459_403-1458insCACACACACACACACACACACACACACA CATATATATATATA		HPRT1	ENSG00000165704.15	transcript	ENST00000298556.8	protein_coding	5/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
HPRT1_chrX_134455165_134505668	134492048	C C	CACACACA others(35): Show CACACACACACACACACACACACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03453.hp1 NA19240.hp1 HG02280.hp2 HG03453.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0234 a0001c0001t0001g0024 a0001c0001t0001g0234	3	276	0.0109	42	c.403 others(59): Show c.403-1459_403-1458insCACACACACACACACACACACACACATA TATATATATATATA		HPRT1	ENSG00000165704.15	transcript	ENST00000298556.8	protein_coding	5/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
HPSE2_chr10_98452077_99240852	99132191	A A	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0066 a0001c0001t0005g0066	1	142	0.0070	42	c.610 others(61): Show c.610+12046_610+12047insCTCTCTTTCTCTCTCTCTTTCTTTCT TTCTTTCTTTCTTTCT		HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11						chr10	TogoVar
HRCT1_chr9_35901202_35912136	35906547	T T	TCCACCAC others(35): Show TCCACCACCACCACCACCCCCGCCACACCCCTCACCACCTCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18939.hp2 NA18945.hp1 NA18986.hp2 others(6): Show NA18939.hp2 NA18945.hp1 NA18986.hp2 NA18991.hp2 NA19055.hp2 NA19056.hp2 NA19062.hp1 NA19065.hp1 NA19086.hp2	a0009 a0043 a0009 a0043	a0009c0009 a0043c0043 a0009c0009 a0043c0043	a0009c0009t0001 a0043c0043t0001 a0009c0009t0001 a0043c0043t0001	a0009c0009t0001g0000 a0043c0043t0001g0000 a0009c0009t0001g0000 a0043c0043t0001g0000	9	430	0.0209	42	c.275 others(49): Show c.275_316dupACCCCCGCCACACCCCTCACCACCTCCACCACCACCAC CACC	p.His others(12): Show p.His92_His105dup	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115		INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906586	T T	TCCACCAC others(35): Show TCCACCACCACCACCACCACCACCCCCGCCACACCCCTCACCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02572.hp1 HG02572.hp1	a0047 a0047	a0047c0047 a0047c0047	a0047c0047t0001 a0047c0047t0001	a0047c0047t0001g0000 a0047c0047t0001g0000	1	430	0.0023	42	c.316 others(49): Show c.316_317insACCACCCCCGCCACACCCCTCACCACCACCACCACCAC CACC	p.His others(55): Show p.His105_Pro106insHisHisProArgHisThrProHisHisHisHi sHisHisHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115		INFO_REALIGN_3_PRIME	chr9	TogoVar
HRCT1_chr9_35901202_35912136	35906598	A A	ACCACCAC others(35): Show ACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18974.hp1 NA19059.hp2 NA18974.hp1 NA19059.hp2	a0034 a0034	a0034c0033 a0034c0033	a0034c0033t0001 a0034c0033t0001	a0034c0033t0001g0000 a0034c0033t0001g0000	2	430	0.0047	42	c.316 others(49): Show c.316_317insACCCCCGCCACACCCCTCACCACCTCCACCACCACCCC CACC	p.His others(55): Show p.His105_Pro106insHisProArgHisThrProHisHisLeuHisHi sHisProHis	HRCT1	ENSG00000196196.3	transcript	ENST00000354323.3	protein_coding	1/1	403/935	317/348	106/115		INFO_REALIGN_3_PRIME	chr9	TogoVar
HRH3_chr20_62209960_62225278	62213169	G G	GGGGGAAG others(35): Show GGGGGAAGGGAGAGCAGGGATGGGGGGGAAGGAGAGTGGGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18975.hp2 NA18994.hp2 NA18954.hp1 NA18975.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0001t0001 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0007g0042 a0001c0002t0001g0002 a0001c0001t0001g0001 a0001c0001t0007g0042 a0001c0002t0001g0002	3	368	0.0082	42	c.28 others(53): Show c.2836_*2837insATCCCCACTCTCCTTCCCCCCCATCCCTGCTCTC CCTTCCCC		HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding					1790		chr20	TogoVar
HRH3_chr20_62209960_62225278	62213485	A A	AGGAGAGC others(35): Show AGGAGAGCGGGGATGGGGGGTAAGGAGAGCGGGGATGGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	42	c.25 others(53): Show c.2520_*2521insCTCCCCCATCCCCGCTCTCCTTACCCCCCATCCC CGCTCTCC		HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding					1474		chr20	TogoVar
HS6ST3_chr13_96085107_96844562	96317330	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATAAAAT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	116	0.0086	42	c.707 others(63): Show c.707+225785_707+225826dupATATATATATATATAAAATTATAT ATATATATATATATATAT		HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr13	TogoVar
HSD17B14_chr19_48808018_48841491	48826528	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 NA19085.hp2 HG03491.hp1 HG03492.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0167 a0001c0001t0001g0204 a0001c0001t0001g0205	3	394	0.0076	42	c.369 others(59): Show c.369+5139_369+5140insATATATATATATATATATATATATATAT ATATATATATATAT		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8						chr19	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18982.hp1 NA18612.hp1 NA18982.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0289 a0002c0002t0002g0326 a0001c0001t0002g0289 a0002c0002t0002g0326	2	374	0.0054	42	c.202 others(61): Show c.202-17463_202-17462insTATATATATAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGA		HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10						chr9	TogoVar

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