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 per page.

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	status	chr	external
GPX7_chr1_52597371_52614051	52606716	C C	A A	stop_gained stop_gained	HIGH	NA18976.hp2 NA18983.hp1 NA18976.hp2 NA18983.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0002 a0002c0005t0002g0002	2	372	0.0054	0	c.171 others(3): Show c.171C>A	p.Cys others(3): Show p.Cys57*	GPX7	ENSG00000116157.6	transcript	ENST00000361314.5	protein_coding	2/3	210/1229	171/564	57/187		chr1	TogoVar
GRIN3B_chr19_995419_1014732	1005225	G G	A A	stop_gained stop_gained	HIGH	HG01069.hp1 HG01081.hp2 HG01928.hp1 others(1): Show HG01069.hp1 HG01081.hp2 HG01928.hp1 HG01981.hp1	a0003 a0003	a0003c0025 a0003c0068 a0003c0025 a0003c0068	a0003c0025t0002 a0003c0068t0002 a0003c0025t0002 a0003c0068t0002	a0003c0025t0002g0006 a0003c0025t0002g0095 a0003c0068t0002g0086 a0003c0025t0002g0006 a0003c0025t0002g0095 a0003c0068t0002g0086	4	446	0.0090	0	c.172 others(4): Show c.1724G>A	p.Trp others(4): Show p.Trp575*	GRIN3B	ENSG00000116032.5	transcript	ENST00000234389.3	protein_coding	3/9	1743/3281	1724/3132	575/1043		chr19	TogoVar
GRIN3B_chr19_995419_1014732	1009339	C C	T T	stop_gained stop_gained	HIGH	HG02886.hp1 HG02886.hp1	a0066 a0066	a0066c0124 a0066c0124	a0066c0124t0001 a0066c0124t0001	a0066c0124t0001g0024 a0066c0124t0001g0024	1	446	0.0022	0	c.286 others(4): Show c.2869C>T	p.Arg others(4): Show p.Arg957*	GRIN3B	ENSG00000116032.5	transcript	ENST00000234389.3	protein_coding	9/9	2888/3281	2869/3132	957/1043		chr19	TogoVar
GRK4_chr4_2958571_3045760	3007809	C C	T T	stop_gained stop_gained	HIGH	HG01981.hp1 NA19079.hp1 HG01981.hp1 NA19079.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0002 a0012c0017t0002	a0012c0017t0002g0042 a0012c0017t0002g0257 a0012c0017t0002g0042 a0012c0017t0002g0257	2	268	0.0075	0	c.517 others(3): Show c.517C>T	p.Gln others(4): Show p.Gln173*	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding	6/16	1017/2372	517/1737	173/578		chr4	TogoVar
GRM6_chr5_178973327_179000320	178989062	G G	T T	stop_gained stop_gained	HIGH	NA20805.hp2 NA20805.hp2	a0026 a0026	a0026c0038 a0026c0038	a0026c0038t0001 a0026c0038t0001	a0026c0038t0001g0278 a0026c0038t0001g0278	1	468	0.0021	0	c.122 others(4): Show c.1227C>A	p.Tyr others(4): Show p.Tyr409*	GRM6	ENSG00000113262.16	transcript	ENST00000517717.3	protein_coding	7/11	1288/6025	1227/2634	409/877		chr5	TogoVar
GSDMB_chr17_39899595_39923635	39909893	G G	A A	stop_gained stop_gained	HIGH	HG02683.hp1 HG02683.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0111 a0010c0010t0001g0111	1	400	0.0025	0	c.439 others(3): Show c.439C>T	p.Arg others(4): Show p.Arg147*	GSDMB	ENSG00000073605.19	transcript	ENST00000418519.6	protein_coding	4/11	555/1584	439/1251	147/416		chr17	TogoVar
GSDME_chr7_24693355_24762464	24710305	G G	A A	stop_gained stop_gained	HIGH	NA18959.hp2 NA18959.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0012 a0008c0015t0012	a0008c0015t0012g0220 a0008c0015t0012g0220	1	410	0.0024	0	c.781 others(3): Show c.781C>T	p.Arg others(4): Show p.Arg261*	GSDME	ENSG00000105928.16	transcript	ENST00000645220.1	protein_coding	6/10	869/2250	781/1491	261/496		chr7	TogoVar
GSG1L2_chr17_9795608_9827079	9808880	A A	AACCCAGG others(3): Show AACCCAGGGCT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18949.hp1 NA18949.hp1	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0016 a0008c0019t0016	a0008c0019t0016g0434 a0008c0019t0016g0434	1	474	0.0021	10	c.451 others(17): Show c.451_460dupAGCCCTGGGT	p.Phe others(5): Show p.Phe154fs	GSG1L2	ENSG00000214978.8	transcript	ENST00000399363.5	protein_coding	3/5	468/2668	460/882	154/293		chr17	TogoVar
GSG1_chr12_13078532_13108667	13087228	G G	A A	stop_gained stop_gained	HIGH	HG00741.hp2 HG00741.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0260 a0009c0010t0001g0260	1	448	0.0022	0	c.670 others(3): Show c.670C>T	p.Gln others(4): Show p.Gln224*	GSG1	ENSG00000111305.19	transcript	ENST00000651961.1	protein_coding	6/7	825/2613	670/1089	224/362		chr12	TogoVar
GSTM4_chr1_109651099_109666700	109658859	C C	T T	stop_gained stop_gained	HIGH	HG00408.hp2 HG00408.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0022 a0004c0008t0001g0022	1	364	0.0028	0	c.406 others(3): Show c.406C>T	p.Gln others(4): Show p.Gln136*	GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding	6/8	697/1394	406/657	136/218		chr1	TogoVar
GSTT2B_chr22_23952414_23966195	23957872	G G	A A	stop_gained stop_gained	HIGH	HG02056.hp2 HG02135.hp2 NA19012.hp2 HG02056.hp2 HG02135.hp2 NA19012.hp2	a0004 a0005 a0004 a0005	a0004c0006 a0005c0007 a0004c0006 a0005c0007	a0004c0006t0001 a0004c0006t0005 a0005c0007t0001 a0004c0006t0001 a0004c0006t0005 a0005c0007t0001	a0004c0006t0001g0023 a0004c0006t0005g0022 a0005c0007t0001g0017 a0004c0006t0001g0023 a0004c0006t0005g0022 a0005c0007t0001g0017	3	119	0.0252	0	c.586 others(3): Show c.586C>T	p.Arg others(4): Show p.Arg196*	GSTT2B	ENSG00000133433.11	transcript	ENST00000290765.9	protein_coding	5/5	650/1108	586/735	196/244		chr22	TogoVar
GSTT4_chr22_23993401_24010453	24000153	A A	C C	stop_gained stop_gained	HIGH	HG02572.hp2 HG02572.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0008 a0007c0007t0008	a0007c0007t0008g0047 a0007c0007t0008g0047	1	161	0.0062	0	c.450 others(3): Show c.450T>G	p.Tyr others(4): Show p.Tyr150*	GSTT4	ENSG00000276950.6	transcript	ENST00000621179.6	protein_coding	4/5	547/964	450/726	150/241		chr22	TogoVar
GTF2H2_chr5_71030347_71072676	71061283	G G	A A	stop_gained stop_gained	HIGH	HG03139.hp2 HG03139.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0026 a0004c0007t0001g0026	1	79	0.0127	0	c.160 others(3): Show c.160C>T	p.Arg others(3): Show p.Arg54*	GTF2H2	ENSG00000145736.15	transcript	ENST00000274400.10	protein_coding	4/16	376/1734	160/1188	54/395		chr5	TogoVar
GTF3A_chr13_27419619_27440823	27434858	A A	T T	stop_gained stop_gained	HIGH	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0014 a0001c0004t0001g0014	1	420	0.0024	0	c.697 others(3): Show c.697A>T	p.Lys others(4): Show p.Lys233*	GTF3A	ENSG00000122034.17	transcript	ENST00000381140.10	protein_coding	7/9	816/1443	697/1098	233/365		chr13	TogoVar
GTSE1_chr22_46291870_46335810	46326504	G G	A A	stop_gained stop_gained	HIGH	NA18968.hp2 NA19002.hp1 NA18968.hp2 NA19002.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0134 a0009c0012t0001g0135 a0009c0012t0001g0134 a0009c0012t0001g0135	2	200	0.0100	0	c.157 others(4): Show c.1574G>A	p.Trp others(4): Show p.Trp525*	GTSE1	ENSG00000075218.19	transcript	ENST00000454366.2	protein_coding	9/12	1657/2983	1574/2220	525/739		chr22	TogoVar
GUF1_chr4_44673420_44705928	44691698	T T	TATTGATC others(15): Show TATTGATCAAAATAGATATCATA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01168.hp2 HG01168.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0003 a0007c0008t0003	a0007c0008t0003g0002 a0007c0008t0003g0002	1	390	0.0026	22	c.152 others(31): Show c.1527_1528insTATCATAATTGATCAAAATAGA	p.Val others(5): Show p.Val510fs	GUF1	ENSG00000151806.14	transcript	ENST00000281543.6	protein_coding	13/17	1731/4460	1528/2010	510/669	INFO_REALIGN_3_PRIME	chr4	TogoVar
GYPB_chr4_143991104_144024380	144001262	A A	C C	stop_gained stop_gained	HIGH	HG01070.hp1 HG01071.hp1 NA19030.hp2 HG01070.hp1 HG01071.hp1 NA19030.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0004 a0006c0005t0005 a0006c0005t0004 a0006c0005t0005	a0006c0005t0004g0029 a0006c0005t0005g0054 a0006c0005t0004g0029 a0006c0005t0005g0054	3	434	0.0069	0	c.59T others(2): Show c.59T>G	p.Leu others(3): Show p.Leu20*	GYPB	ENSG00000250361.10	transcript	ENST00000502664.6	protein_coding	2/5	152/564	59/276	20/91		chr4	TogoVar
GZMK_chr5_55019256_55039570	55031462	G G	A A	stop_gained stop_gained	HIGH	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0012 a0002c0005t0001g0012	1	464	0.0022	0	c.462 others(3): Show c.462G>A	p.Trp others(4): Show p.Trp154*	GZMK	ENSG00000113088.6	transcript	ENST00000231009.3	protein_coding	4/5	529/1506	462/795	154/264		chr5	TogoVar
GZMM_chr19_539053_554922	549171	C C	T T	stop_gained stop_gained	HIGH	HG01167.hp1 HG01167.hp1	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0049 a0008c0017t0001g0049	1	398	0.0025	0	c.598 others(3): Show c.598C>T	p.Gln others(4): Show p.Gln200*	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding	4/5	617/924	598/774	200/257		chr19	TogoVar
H1-6_chr6_26102412_26113135	26107592	T T	A A	stop_gained stop_gained	HIGH	HG02723.hp2 HG02723.hp2	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0001 a0014c0016t0001	a0014c0016t0001g0000 a0014c0016t0001g0000	1	408	0.0025	0	c.502 others(3): Show c.502A>T	p.Arg others(4): Show p.Arg168*	H1-6	ENSG00000187475.6	transcript	ENST00000338379.6	protein_coding	1/1	544/724	502/624	168/207		chr6	TogoVar
H2AC15_chr6_27832880_27843375	27838156	C C	A A	stop_gained stop_gained	HIGH	HG01975.hp2 HG01975.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0000 a0003c0007t0001g0000	1	408	0.0025	0	c.184 others(3): Show c.184G>T	p.Glu others(3): Show p.Glu62*	H2AC15	ENSG00000275221.2	transcript	ENST00000618958.2	protein_coding	1/1	220/496	184/393	62/130		chr6	TogoVar
H2AC18_chr1_149837218_149847750	149842446	G G	A A	stop_gained stop_gained	HIGH	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0000 a0002c0009t0001g0000	1	320	0.0031	0	c.253 others(3): Show c.253C>T	p.Gln others(3): Show p.Gln85*	H2AC18	ENSG00000288825.1	transcript	ENST00000369159.3	protein_coding	1/1	305/533	253/393	85/130		chr1	TogoVar
H2BW2_chrX_104034956_104047454	104040193	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(109): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG02015.hp1 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02602.hp1 HG02683.hp2 HG02735.hp1 HG03041.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18967.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp1 NA19063.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19090.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0007 a0004c0009 a0002c0002 a0002c0007 a0004c0009	a0002c0002t0001 a0002c0002t0002 a0002c0007t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0007t0001 a0004c0009t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0013 others(4): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0013 a0002c0002t0001g0015 a0002c0002t0002g0001 a0002c0007t0001g0001 a0004c0009t0001g0001	112	332	0.3374	0	c.199 others(3): Show c.199C>T	p.Gln others(3): Show p.Gln67*	H2BW2	ENSG00000101812.15	transcript	ENST00000675318.3	protein_coding	1/4	238/870	199/447	67/148		chrX	TogoVar
HAGH_chr16_1802629_1831825	1817242	T T	TTTTTTCA others(9): Show TTTTTTCACGAACTTTC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19082.hp1 NA19082.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0003 a0010c0012t0003	a0010c0012t0003g0110 a0010c0012t0003g0110	1	436	0.0023	16	c.570 others(23): Show c.570_571insGAAAGTTCGTGAAAAA	p.Lys others(5): Show p.Lys191fs	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding	6/9	608/2619	570/927	190/308		chr16	TogoVar
HAGH_chr16_1802629_1831825	1826775	G G	A A	stop_gained stop_gained	HIGH	HG03139.hp1 HG03139.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0003 a0005c0019t0003	a0005c0019t0003g0317 a0005c0019t0003g0317	1	436	0.0023	0	c.13C others(2): Show c.13C>T	p.Arg others(2): Show p.Arg5*	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding	1/9	51/2619	13/927	5/308		chr16	TogoVar
HAO2_chr1_119363785_119399130	119386643	C C	T T	stop_gained stop_gained	HIGH	HG02145.hp1 HG02145.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0097 a0005c0010t0001g0097	1	428	0.0023	0	c.583 others(3): Show c.583C>T	p.Gln others(4): Show p.Gln195*	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/8	709/1472	583/1056	195/351		chr1	TogoVar
HAP1_chr17_41717640_41739643	41724714	G G	T T	stop_gained stop_gained	HIGH	HG01243.hp2 HG01884.hp1 HG02083.hp2 others(18): Show HG01243.hp2 HG01884.hp1 HG02083.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03516.hp1 HG03579.hp1 HG06807.hp1 NA21309.hp1	a0006 a0014 a0020 others(3): Show a0006 a0014 a0020 a0022 a0024 a0030	a0006c0006 a0014c0015 a0020c0027 others(3): Show a0006c0006 a0014c0015 a0020c0027 a0022c0028 a0024c0025 a0030c0026	a0006c0006t0004 a0006c0006t0012 a0006c0006t0016 others(5): Show a0006c0006t0004 a0006c0006t0012 a0006c0006t0016 a0014c0015t0008 a0020c0027t0008 a0022c0028t0016 a0024c0025t0023 a0030c0026t0025	a0006c0006t0004g0007 a0006c0006t0004g0104 a0006c0006t0004g0105 others(16): Show a0006c0006t0004g0007 a0006c0006t0004g0104 a0006c0006t0004g0105 a0006c0006t0004g0106 a0006c0006t0004g0107 a0006c0006t0004g0108 a0006c0006t0004g0109 a0006c0006t0004g0110 a0006c0006t0004g0115 a0006c0006t0012g0008 a0006c0006t0012g0116 a0006c0006t0016g0112 a0014c0015t0008g0125 a0014c0015t0008g0126 a0014c0015t0008g0127 a0020c0027t0008g0122 a0022c0028t0016g0113 a0024c0025t0023g0090 a0030c0026t0025g0030	21	374	0.0562	0	c.184 others(4): Show c.1847C>A	p.Ser others(4): Show p.Ser616*	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	11/11	1856/3930	1847/1860	616/619		chr17	TogoVar
HAP1_chr17_41717640_41739643	41734324	C C	T T	stop_gained stop_gained	HIGH	NA19005.hp2 NA19005.hp2	a0032 a0032	a0032c0033 a0032c0033	a0032c0033t0001 a0032c0033t0001	a0032c0033t0001g0171 a0032c0033t0001g0171	1	374	0.0027	0	c.311 others(3): Show c.311G>A	p.Trp others(4): Show p.Trp104*	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	1/11	320/3930	311/1860	104/619		chr17	TogoVar
HAUS1_chr18_46099385_46133333	46105239	C C	T T	stop_gained stop_gained	HIGH	NA18951.hp1 NA18951.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0144 a0007c0010t0001g0144	1	372	0.0027	0	c.76C others(2): Show c.76C>T	p.Gln others(3): Show p.Gln26*	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/9	103/1072	76/837	26/278		chr18	TogoVar
HAUS6_chr9_19048141_19107904	19056387	T T	A A	stop_gained stop_gained	HIGH	HG02523.hp1 HG02523.hp1	a0020 a0020	a0020c0033 a0020c0033	a0020c0033t0001 a0020c0033t0001	a0020c0033t0001g0226 a0020c0033t0001g0226	1	406	0.0025	0	c.282 others(4): Show c.2824A>T	p.Lys others(4): Show p.Lys942*	HAUS6	ENSG00000147874.11	transcript	ENST00000380502.8	protein_coding	17/17	3077/6323	2824/2868	942/955		chr9	TogoVar
HBZ_chr16_147644_159503	152928	G G	T T	stop_gained stop_gained	HIGH	HG00741.hp2 HG01175.hp2 HG00741.hp2 HG01175.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0072 a0002c0004t0002g0080 a0002c0004t0002g0072 a0002c0004t0002g0080	2	432	0.0046	0	c.19G others(2): Show c.19G>T	p.Glu others(2): Show p.Glu7*	HBZ	ENSG00000130656.6	transcript	ENST00000252951.3	protein_coding	1/3	285/798	19/429	7/142		chr16	TogoVar
HCFC1R1_chr16_3017625_3028942	3022899	G G	C C	stop_gained stop_gained	HIGH	NA19091.hp2 NA19091.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0009 a0004c0005t0001g0009	1	412	0.0024	0	c.381 others(3): Show c.381C>G	p.Tyr others(4): Show p.Tyr127*	HCFC1R1	ENSG00000103145.11	transcript	ENST00000248089.8	protein_coding	4/4	382/656	381/417	127/138		chr16	TogoVar
HDHD5_chr22_17132520_17164277	17138251	G G	A A	stop_gained stop_gained	HIGH	HG02922.hp1 HG02922.hp1	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0001 a0006c0023t0001	a0006c0023t0001g0267 a0006c0023t0001g0267	1	422	0.0024	0	c.104 others(4): Show c.1042C>T	p.Gln others(4): Show p.Gln348*	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	8/8	1068/1799	1042/1272	348/423		chr22	TogoVar
HEATR4_chr14_73473484_73563947	73499074	G G	A A	stop_gained stop_gained	HIGH	HG02572.hp2 NA18906.hp1 HG02572.hp2 NA18906.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0009 a0007c0015t0001 a0007c0015t0009	a0007c0015t0001g0027 a0007c0015t0009g0365 a0007c0015t0001g0027 a0007c0015t0009g0365	2	368	0.0054	0	c.235 others(4): Show c.2353C>T	p.Arg others(4): Show p.Arg785*	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	13/18	2701/3551	2353/3081	785/1026		chr14	TogoVar
HECTD3_chr1_44997548_45016324	45006694	G G	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG02148.hp2 HG02148.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0003 a0005c0015t0003	a0005c0015t0003g0045 a0005c0015t0003g0045	1	396	0.0025	0	c.172 others(4): Show c.1723C>T	p.Gln others(4): Show p.Gln575*	HECTD3	ENSG00000126107.15	transcript	ENST00000372172.5	protein_coding	13/21	1790/3597	1723/2586	575/861		chr1	TogoVar
HELB_chr12_66297493_66343199	66322010	C C	T T	stop_gained stop_gained	HIGH	HG02071.hp2 HG02074.hp1 HG02071.hp2 HG02074.hp1	a0017 a0017	a0017c0028 a0017c0028	a0017c0028t0001 a0017c0028t0001	a0017c0028t0001g0003 a0017c0028t0001g0003	2	390	0.0051	0	c.221 others(4): Show c.2218C>T	p.Gln others(4): Show p.Gln740*	HELB	ENSG00000127311.10	transcript	ENST00000247815.9	protein_coding	8/13	2329/3472	2218/3264	740/1087		chr12	TogoVar
HELB_chr12_66297493_66343199	66324176	C C	T T	stop_gained stop_gained	HIGH	NA18906.hp2 NA18906.hp2	a0019 a0019	a0019c0038 a0019c0038	a0019c0038t0001 a0019c0038t0001	a0019c0038t0001g0022 a0019c0038t0001g0022	1	390	0.0026	0	c.249 others(4): Show c.2491C>T	p.Arg others(4): Show p.Arg831*	HELB	ENSG00000127311.10	transcript	ENST00000247815.9	protein_coding	10/13	2602/3472	2491/3264	831/1087		chr12	TogoVar
HEPHL1_chr11_94016354_94119208	94093616	C C	T T	stop_gained stop_gained	HIGH	NA18978.hp2 NA18978.hp2	a0014 a0014	a0014c0026 a0014c0026	a0014c0026t0001 a0014c0026t0001	a0014c0026t0001g0353 a0014c0026t0001g0353	1	368	0.0027	0	c.241 others(4): Show c.2410C>T	p.Arg others(4): Show p.Arg804*	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	13/20	2425/5809	2410/3480	804/1159		chr11	TogoVar
HERC6_chr4_88373852_88448097	88442452	C C	T T	stop_gained stop_gained	HIGH	HG02559.hp2 HG03195.hp2 NA18906.hp2 HG02559.hp2 HG03195.hp2 NA18906.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0002 a0008c0010t0002	a0008c0010t0002g0006 a0008c0010t0002g0099 a0008c0010t0002g0100 a0008c0010t0002g0006 a0008c0010t0002g0099 a0008c0010t0002g0100	3	174	0.0172	0	c.306 others(4): Show c.3061C>T	p.Gln others(5): Show p.Gln1021*	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	23/23	3131/3776	3061/3069	1021/1022		chr4	TogoVar
HEYL_chr1_39618435_39644643	39631561	G G	A A	stop_gained stop_gained	HIGH	NA19009.hp2 NA19009.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0003 a0005c0012t0003	a0005c0012t0003g0070 a0005c0012t0003g0070	1	440	0.0023	0	c.166 others(3): Show c.166C>T	p.Arg others(3): Show p.Arg56*	HEYL	ENSG00000163909.8	transcript	ENST00000372852.4	protein_coding	3/5	184/4077	166/987	56/328		chr1	TogoVar
HGH1_chr8_144132774_144145851	144138188	G G	A A	stop_gained stop_gained	HIGH	NA18971.hp1 NA18971.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0001 a0005c0012t0001g0001	1	342	0.0029	0	c.353 others(3): Show c.353G>A	p.Trp others(4): Show p.Trp118*	HGH1	ENSG00000235173.7	transcript	ENST00000347708.5	protein_coding	1/6	415/2534	353/1173	118/390		chr8	TogoVar
HGH1_chr8_144132774_144145851	144138189	G G	A A	stop_gained stop_gained	HIGH	NA18971.hp1 NA18971.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0001 a0005c0012t0001g0001	1	342	0.0029	0	c.354 others(3): Show c.354G>A	p.Trp others(4): Show p.Trp118*	HGH1	ENSG00000235173.7	transcript	ENST00000347708.5	protein_coding	1/6	416/2534	354/1173	118/390		chr8	TogoVar
HHLA2_chr3_108291548_108383285	108358028	G G	A A	stop_gained stop_gained	HIGH	HG03491.hp1 HG04184.hp1 HG03491.hp1 HG04184.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0247 a0007c0010t0001g0274 a0007c0010t0001g0247 a0007c0010t0001g0274	2	322	0.0062	0	c.870 others(3): Show c.870G>A	p.Trp others(4): Show p.Trp290*	HHLA2	ENSG00000114455.15	transcript	ENST00000467761.6	protein_coding	6/10	1035/2417	870/1245	290/414		chr3	TogoVar
HIC1_chr17_2050103_2068241	2057471	A A	T T	stop_gained stop_gained	HIGH	HG01981.hp2 HG01981.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0002 a0008c0016t0002	a0008c0016t0002g0002 a0008c0016t0002g0002	1	414	0.0024	0	c.781 others(3): Show c.781A>T	p.Lys others(4): Show p.Lys261*	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding	2/2	937/6707	781/2145	261/714		chr17	TogoVar
HK3_chr5_176875869_176904346	176887514	G G	A A	stop_gained stop_gained	HIGH	HG02165.hp1 HG02165.hp1	a0014 a0014	a0014c0041 a0014c0041	a0014c0041t0001 a0014c0041t0001	a0014c0041t0001g0121 a0014c0041t0001g0121	1	408	0.0025	0	c.153 others(4): Show c.1537C>T	p.Arg others(4): Show p.Arg513*	HK3	ENSG00000160883.11	transcript	ENST00000292432.10	protein_coding	11/19	1643/3082	1537/2772	513/923		chr5	TogoVar
HLA-A_chr6_29937532_29950870	29943450	G G	T T	stop_gained stop_gained	HIGH	HG01884.hp2 HG02055.hp1 HG02280.hp2 others(10): Show HG01884.hp2 HG02055.hp1 HG02280.hp2 HG02486.hp2 HG02615.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03516.hp2 HG03834.hp2 NA18948.hp1 NA19240.hp2	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0006 a0012c0011t0006	a0012c0011t0006g0009 a0012c0011t0006g0024 a0012c0011t0006g0009 a0012c0011t0006g0024	13	418	0.0311	0	c.526 others(3): Show c.526G>T	p.Glu others(4): Show p.Glu176*	HLA-A	ENSG00000206503.14	transcript	ENST00000376809.10	protein_coding	3/8	548/1535	526/1098	176/365		chr6	TogoVar
HLA-A_chr6_29937532_29950870	29943463	T T	A A	stop_gained stop_gained	HIGH	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(85): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01346.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01993.hp1 HG02027.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02523.hp2 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03654.hp2 HG03704.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18947.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18990.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19011.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19072.hp2 NA19076.hp1 NA19078.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0004 a0029 others(3): Show a0001 a0004 a0029 a0032 a0039 a0043	a0001c0001 a0004c0004 a0029c0027 others(3): Show a0001c0001 a0004c0004 a0029c0027 a0032c0031 a0039c0039 a0043c0038	a0001c0001t0002 a0004c0004t0004 a0029c0027t0004 others(3): Show a0001c0001t0002 a0004c0004t0004 a0029c0027t0004 a0032c0031t0002 a0039c0039t0002 a0043c0038t0002	a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0027 others(7): Show a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0027 a0004c0004t0004g0004 a0004c0004t0004g0023 a0004c0004t0004g0028 a0029c0027t0004g0004 a0032c0031t0002g0002 a0039c0039t0002g0002 a0043c0038t0002g0022	88	418	0.2105	0	c.539 others(3): Show c.539T>A	p.Leu others(4): Show p.Leu180*	HLA-A	ENSG00000206503.14	transcript	ENST00000376809.10	protein_coding	3/8	561/1535	539/1098	180/365		chr6	TogoVar
HLA-B_chr6_31348875_31362179	31356366	G G	T T	stop_gained stop_gained	HIGH	HG00438.hp2 HG00621.hp2 HG01074.hp1 others(44): Show HG00438.hp2 HG00621.hp2 HG01074.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01358.hp1 HG01516.hp1 HG02109.hp2 HG02132.hp2 HG02155.hp2 HG02602.hp2 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp1 HG03209.hp1 HG03579.hp2 HG03834.hp1 HG04204.hp2 NA18522.hp1 NA18948.hp2 NA18951.hp1 NA18954.hp1 NA18960.hp2 NA18961.hp2 NA18965.hp2 NA18972.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18985.hp1 NA18989.hp1 NA18998.hp1 NA19000.hp2 NA19030.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp1 NA19067.hp2 NA19075.hp2 NA19078.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0014 a0018 a0024 others(7): Show a0014 a0018 a0024 a0025 a0029 a0030 a0031 a0033 a0039 a0066	a0014c0014 a0018c0016 a0024c0023 others(7): Show a0014c0014 a0018c0016 a0024c0023 a0025c0024 a0029c0031 a0030c0030 a0031c0029 a0033c0033 a0039c0038 a0066c0058	a0014c0014t0010 a0014c0014t0036 a0018c0016t0006 others(9): Show a0014c0014t0010 a0014c0014t0036 a0018c0016t0006 a0024c0023t0006 a0025c0024t0006 a0029c0031t0010 a0030c0030t0010 a0031c0029t0010 a0033c0033t0022 a0033c0033t0024 a0039c0038t0022 a0066c0058t0010	a0014c0014t0010g0020 a0014c0014t0010g0063 a0014c0014t0036g0110 others(13): Show a0014c0014t0010g0020 a0014c0014t0010g0063 a0014c0014t0036g0110 a0018c0016t0006g0015 a0024c0023t0006g0022 a0025c0024t0006g0023 a0029c0031t0010g0046 a0029c0031t0010g0109 a0030c0030t0010g0045 a0030c0030t0010g0108 a0031c0029t0010g0044 a0031c0029t0010g0107 a0033c0033t0022g0081 a0033c0033t0024g0040 a0039c0038t0022g0041 a0066c0058t0010g0106	47	468	0.1004	0	c.420 others(3): Show c.420C>A	p.Tyr others(4): Show p.Tyr140*	HLA-B	ENSG00000234745.14	transcript	ENST00000412585.7	protein_coding	3/8	441/1536	420/1089	140/362		chr6	TogoVar
HLA-B_chr6_31348875_31362179	31356751	G G	A A	stop_gained stop_gained	HIGH	HG00140.hp1 HG00741.hp1 HG01361.hp2 others(22): Show HG00140.hp1 HG00741.hp1 HG01361.hp2 HG01884.hp2 HG02015.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02280.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03471.hp1 HG03704.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 NA18612.hp2 NA19005.hp1 NA19080.hp2 NA19240.hp2	a0013 a0020 a0036 others(2): Show a0013 a0020 a0036 a0040 a0078	a0013c0013 a0020c0018 a0036c0032 others(2): Show a0013c0013 a0020c0018 a0036c0032 a0040c0042 a0078c0074	a0013c0013t0006 a0020c0018t0013 a0036c0032t0013 others(2): Show a0013c0013t0006 a0020c0018t0013 a0036c0032t0013 a0040c0042t0014 a0078c0074t0032	a0013c0013t0006g0012 a0020c0018t0013g0016 a0036c0032t0013g0053 others(3): Show a0013c0013t0006g0012 a0020c0018t0013g0016 a0036c0032t0013g0053 a0036c0032t0013g0054 a0040c0042t0014g0043 a0078c0074t0032g0101	25	468	0.0534	0	c.280 others(3): Show c.280C>T	p.Gln others(3): Show p.Gln94*	HLA-B	ENSG00000234745.14	transcript	ENST00000412585.7	protein_coding	2/8	301/1536	280/1089	94/362		chr6	TogoVar
HLA-B_chr6_31348875_31362179	31356758	G G	C C	stop_gained stop_gained	HIGH	HG00140.hp1 HG00741.hp1 HG01361.hp2 others(22): Show HG00140.hp1 HG00741.hp1 HG01361.hp2 HG01884.hp2 HG02015.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02280.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03471.hp1 HG03704.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 NA18612.hp2 NA19005.hp1 NA19080.hp2 NA19240.hp2	a0013 a0020 a0036 others(2): Show a0013 a0020 a0036 a0040 a0078	a0013c0013 a0020c0018 a0036c0032 others(2): Show a0013c0013 a0020c0018 a0036c0032 a0040c0042 a0078c0074	a0013c0013t0006 a0020c0018t0013 a0036c0032t0013 others(2): Show a0013c0013t0006 a0020c0018t0013 a0036c0032t0013 a0040c0042t0014 a0078c0074t0032	a0013c0013t0006g0012 a0020c0018t0013g0016 a0036c0032t0013g0053 others(3): Show a0013c0013t0006g0012 a0020c0018t0013g0016 a0036c0032t0013g0053 a0036c0032t0013g0054 a0040c0042t0014g0043 a0078c0074t0032g0101	25	468	0.0534	0	c.273 others(3): Show c.273C>G	p.Tyr others(3): Show p.Tyr91*	HLA-B	ENSG00000234745.14	transcript	ENST00000412585.7	protein_coding	2/8	294/1536	273/1089	91/362		chr6	TogoVar

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