Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
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	418	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	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0128 a0001c0012t0001g0129 a0001c0012t0001g0128 a0001c0012t0001g0129	2	198	0.0101	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	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0002 a0004c0008t0003g0002	1	388	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	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0005 a0005c0005t0004 a0005c0005t0005	a0005c0005t0004g0029 a0005c0005t0005g0054 a0005c0005t0004g0029 a0005c0005t0005g0054	3	432	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	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0012 a0003c0005t0001g0012	1	462	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	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0008 a0008c0014t0001g0008	1	396	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	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	406	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	406	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	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0000 a0004c0009t0001g0000	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 a0005 a0002 a0005	a0002c0002 a0002c0006 a0005c0008 a0002c0002 a0002c0006 a0005c0008	a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 a0005c0008t0001	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0012 others(4): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0002g0001 a0002c0006t0001g0001 a0005c0008t0001g0001	112	330	0.3394	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	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0003 a0011c0012t0003	a0011c0012t0003g0111 a0011c0012t0003g0111	1	434	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	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0003 a0007c0019t0003	a0007c0019t0003g0287 a0007c0019t0003g0287	1	434	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	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0097 a0004c0010t0001g0097	1	426	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 a0015 a0026 others(3): Show a0006 a0015 a0026 a0029 a0033 a0041	a0006c0006 a0015c0015 a0026c0025 others(3): Show a0006c0006 a0015c0015 a0026c0025 a0029c0028 a0033c0026 a0041c0027	a0006c0006t0004 a0006c0006t0012 a0006c0006t0016 others(5): Show a0006c0006t0004 a0006c0006t0012 a0006c0006t0016 a0015c0015t0008 a0026c0025t0023 a0029c0028t0016 a0033c0026t0025 a0041c0027t0008	a0006c0006t0004g0011 a0006c0006t0004g0106 a0006c0006t0004g0107 others(16): Show a0006c0006t0004g0011 a0006c0006t0004g0106 a0006c0006t0004g0107 a0006c0006t0004g0108 a0006c0006t0004g0109 a0006c0006t0004g0110 a0006c0006t0004g0111 a0006c0006t0004g0113 a0006c0006t0004g0118 a0006c0006t0012g0012 a0006c0006t0012g0119 a0006c0006t0016g0112 a0015c0015t0008g0127 a0015c0015t0008g0128 a0015c0015t0008g0129 a0026c0025t0023g0092 a0029c0028t0016g0115 a0033c0026t0025g0032 a0041c0027t0008g0123	21	372	0.0565	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	a0039 a0039	a0039c0033 a0039c0033	a0039c0033t0001 a0039c0033t0001	a0039c0033t0001g0170 a0039c0033t0001g0170	1	372	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	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0124 a0004c0008t0001g0124	1	370	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	a0014 a0014	a0014c0033 a0014c0033	a0014c0033t0001 a0014c0033t0001	a0014c0033t0001g0226 a0014c0033t0001g0226	1	404	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	a0002c0004t0002g0042 a0002c0004t0002g0045 a0002c0004t0002g0042 a0002c0004t0002g0045	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	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0009 a0005c0005t0001g0009	1	410	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	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0001 a0008c0023t0001	a0008c0023t0001g0207 a0008c0023t0001g0207	1	420	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	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0008 a0009c0015t0001 a0009c0015t0008	a0009c0015t0001g0034 a0009c0015t0008g0354 a0009c0015t0001g0034 a0009c0015t0008g0354	2	366	0.0055	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	394	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	388	0.0052	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	a0022 a0022	a0022c0038 a0022c0038	a0022c0038t0001 a0022c0038t0001	a0022c0038t0001g0022 a0022c0038t0001g0022	1	388	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	a0023 a0023	a0023c0026 a0023c0026	a0023c0026t0001 a0023c0026t0001	a0023c0026t0001g0349 a0023c0026t0001g0349	1	366	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	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0002 a0009c0010t0002	a0009c0010t0002g0006 a0009c0010t0002g0119 a0009c0010t0002g0120 a0009c0010t0002g0006 a0009c0010t0002g0119 a0009c0010t0002g0120	3	172	0.0174	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	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0003 a0008c0012t0003	a0008c0012t0003g0070 a0008c0012t0003g0070	1	438	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	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0001 a0008c0012t0001g0001	1	340	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	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0001 a0008c0012t0001g0001	1	340	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	a0007c0010t0001g0241 a0007c0010t0001g0268 a0007c0010t0001g0241 a0007c0010t0001g0268	2	320	0.0063	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	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0002 a0006c0016t0002	a0006c0016t0002g0002 a0006c0016t0002g0002	1	412	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	a0015 a0015	a0015c0041 a0015c0041	a0015c0041t0001 a0015c0041t0001	a0015c0041t0001g0121 a0015c0041t0001g0121	1	406	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	a0013 a0013	a0013c0011 a0013c0011	a0013c0011t0006 a0013c0011t0006	a0013c0011t0006g0009 a0013c0011t0006g0024 a0013c0011t0006g0009 a0013c0011t0006g0024	13	402	0.0323	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 a0031 others(3): Show a0001 a0004 a0031 a0032 a0039 a0040	a0001c0001 a0004c0004 a0031c0031 others(3): Show a0001c0001 a0004c0004 a0031c0031 a0032c0027 a0039c0038 a0040c0039	a0001c0001t0002 a0004c0004t0004 a0031c0031t0002 others(3): Show a0001c0001t0002 a0004c0004t0004 a0031c0031t0002 a0032c0027t0004 a0039c0038t0002 a0040c0039t0002	a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0027 others(7): Show a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0027 a0004c0004t0004g0004 a0004c0004t0004g0023 a0004c0004t0004g0028 a0031c0031t0002g0002 a0032c0027t0004g0004 a0039c0038t0002g0022 a0040c0039t0002g0002	88	328	0.2683	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	a0015 a0016 a0018 others(6): Show a0015 a0016 a0018 a0026 a0027 a0032 a0035 a0039 a0060	a0015c0014 a0016c0029 a0016c0030 others(7): Show a0015c0014 a0016c0029 a0016c0030 a0018c0016 a0026c0023 a0027c0024 a0032c0033 a0035c0031 a0039c0038 a0060c0058	a0015c0014t0010 a0015c0014t0036 a0016c0029t0010 others(9): Show a0015c0014t0010 a0015c0014t0036 a0016c0029t0010 a0016c0030t0010 a0018c0016t0006 a0026c0023t0006 a0027c0024t0006 a0032c0033t0022 a0032c0033t0024 a0035c0031t0010 a0039c0038t0022 a0060c0058t0010	a0015c0014t0010g0020 a0015c0014t0010g0063 a0015c0014t0036g0109 others(12): Show a0015c0014t0010g0020 a0015c0014t0010g0063 a0015c0014t0036g0109 a0016c0029t0010g0045 a0016c0029t0010g0107 a0016c0030t0010g0046 a0016c0030t0010g0108 a0018c0016t0006g0015 a0026c0023t0006g0022 a0027c0024t0006g0023 a0032c0033t0022g0081 a0032c0033t0024g0041 a0035c0031t0010g0036 a0039c0038t0022g0042 a0060c0058t0010g0106	47	466	0.1009	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 a0029 others(2): Show a0013 a0020 a0029 a0037 a0058	a0013c0013 a0020c0018 a0029c0032 others(2): Show a0013c0013 a0020c0018 a0029c0032 a0037c0042 a0058c0074	a0013c0013t0006 a0020c0018t0013 a0029c0032t0013 others(2): Show a0013c0013t0006 a0020c0018t0013 a0029c0032t0013 a0037c0042t0014 a0058c0074t0032	a0013c0013t0006g0012 a0020c0018t0013g0016 a0029c0032t0013g0053 others(3): Show a0013c0013t0006g0012 a0020c0018t0013g0016 a0029c0032t0013g0053 a0029c0032t0013g0054 a0037c0042t0014g0044 a0058c0074t0032g0101	25	96	0.2604	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 a0029 others(2): Show a0013 a0020 a0029 a0037 a0058	a0013c0013 a0020c0018 a0029c0032 others(2): Show a0013c0013 a0020c0018 a0029c0032 a0037c0042 a0058c0074	a0013c0013t0006 a0020c0018t0013 a0029c0032t0013 others(2): Show a0013c0013t0006 a0020c0018t0013 a0029c0032t0013 a0037c0042t0014 a0058c0074t0032	a0013c0013t0006g0012 a0020c0018t0013g0016 a0029c0032t0013g0053 others(3): Show a0013c0013t0006g0012 a0020c0018t0013g0016 a0029c0032t0013g0053 a0029c0032t0013g0054 a0037c0042t0014g0044 a0058c0074t0032g0101	25	466	0.0536	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
HLA-C_chr6_31263749_31277092	31271157	G G	A A	stop_gained stop_gained	HIGH	NA18943.hp1 NA18943.hp1	a0033 a0033	a0033c0036 a0033c0036	a0033c0036t0002 a0033c0036t0002	a0033c0036t0002g0054 a0033c0036t0002g0054	1	448	0.0022	0	c.535 others(3): Show c.535C>T	p.Gln others(4): Show p.Gln179*	HLA-C	ENSG00000204525.18	transcript	ENST00000376228.10	protein_coding	3/8	556/1542	535/1101	179/366		chr6	TogoVar
HLA-DPB1_chr6_33070990_33094696	33080689	G G	T T	stop_gained stop_gained	HIGH	HG00280.hp1 HG00323.hp1 HG00673.hp1 others(113): Show HG00280.hp1 HG00323.hp1 HG00673.hp1 HG00733.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02273.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18948.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19079.hp2 NA19081.hp2 NA19087.hp2 NA20752.hp1 NA21309.hp2	a0006 a0007 a0009 others(13): Show a0006 a0007 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0030 a0032 a0034 a0035	a0006c0008 a0006c0010 a0006c0037 others(15): Show a0006c0008 a0006c0010 a0006c0037 a0007c0006 a0009c0009 a0011c0012 a0012c0013 a0013c0014 a0014c0015 a0015c0018 a0016c0022 a0017c0021 a0018c0019 a0019c0020 a0030c0035 a0032c0034 a0034c0036 a0035c0031	a0006c0008t0003 a0006c0008t0012 a0006c0010t0003 others(18): Show a0006c0008t0003 a0006c0008t0012 a0006c0010t0003 a0006c0010t0026 a0006c0037t0006 a0007c0006t0003 a0009c0009t0006 a0009c0009t0020 a0011c0012t0006 a0012c0013t0008 a0013c0014t0007 a0014c0015t0001 a0015c0018t0013 a0016c0022t0003 a0017c0021t0003 a0018c0019t0014 a0019c0020t0003 a0030c0035t0006 a0032c0034t0016 a0034c0036t0003 a0035c0031t0029	a0006c0008t0003g0009 a0006c0008t0003g0013 a0006c0008t0003g0070 others(31): Show a0006c0008t0003g0009 a0006c0008t0003g0013 a0006c0008t0003g0070 a0006c0008t0012g0009 a0006c0010t0003g0007 a0006c0010t0003g0101 a0006c0010t0026g0007 a0006c0037t0006g0067 a0007c0006t0003g0005 a0009c0009t0006g0015 a0009c0009t0006g0033 a0009c0009t0006g0078 a0009c0009t0006g0079 a0009c0009t0006g0080 a0009c0009t0020g0084 a0009c0009t0020g0085 a0011c0012t0006g0010 a0012c0013t0008g0027 a0012c0013t0008g0029 a0012c0013t0008g0066 a0012c0013t0008g0068 a0013c0014t0007g0014 a0013c0014t0007g0072 a0014c0015t0001g0021 a0014c0015t0001g0077 a0015c0018t0013g0034 a0016c0022t0003g0013 a0017c0021t0003g0038 a0018c0019t0014g0042 a0019c0020t0003g0007 a0030c0035t0006g0015 a0032c0034t0016g0087 a0034c0036t0003g0013 a0035c0031t0029g0062	116	454	0.2555	0	c.118 others(3): Show c.118G>T	p.Gly others(3): Show p.Gly40*	HLA-DPB1	ENSG00000223865.11	transcript	ENST00000418931.7	protein_coding	2/6	170/3991	118/777	40/258		chr6	TogoVar
HLA-DQB1_chr6_32654467_32671657	32664861	C C	A A	stop_gained stop_gained	HIGH	HG00140.hp1 HG00408.hp1 HG00438.hp1 others(99): Show HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00735.hp1 HG00741.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02683.hp1 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19006.hp1 NA19010.hp1 NA19011.hp1 NA19055.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19067.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1	a0005 a0009 a0010 others(2): Show a0005 a0009 a0010 a0011 a0012	a0005c0006 a0005c0019 a0009c0010 others(3): Show a0005c0006 a0005c0019 a0009c0010 a0010c0009 a0011c0011 a0012c0013	a0005c0006t0004 a0005c0019t0004 a0009c0010t0001 others(6): Show a0005c0006t0004 a0005c0019t0004 a0009c0010t0001 a0010c0009t0001 a0010c0009t0010 a0010c0009t0016 a0010c0009t0017 a0011c0011t0009 a0012c0013t0011	a0005c0006t0004g0005 a0005c0006t0004g0016 a0005c0006t0004g0022 others(15): Show a0005c0006t0004g0005 a0005c0006t0004g0016 a0005c0006t0004g0022 a0005c0006t0004g0026 a0005c0006t0004g0053 a0005c0019t0004g0055 a0009c0010t0001g0009 a0010c0009t0001g0030 a0010c0009t0010g0018 a0010c0009t0010g0023 a0010c0009t0010g0027 a0010c0009t0016g0037 a0010c0009t0017g0038 a0011c0011t0009g0011 a0011c0011t0009g0029 a0011c0011t0009g0052 a0012c0013t0011g0013 a0012c0013t0011g0054	102	400	0.2550	0	c.316 others(3): Show c.316G>T	p.Glu others(4): Show p.Glu106*	HLA-DQB1	ENSG00000179344.17	transcript	ENST00000434651.7	protein_coding	2/5	366/1605	316/786	106/261		chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32584364	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(128): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18955.hp1 NA18968.hp2 NA18969.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(20): Show a0002 a0003 a0005 a0006 a0007 a0010 a0012 a0013 a0014 a0016 a0018 a0019 a0020 a0021 a0023 a0024 a0025 a0026 a0028 a0029 a0030 a0031 a0032	a0002c0002 a0003c0003 a0005c0008 others(21): Show a0002c0002 a0003c0003 a0005c0008 a0005c0010 a0006c0005 a0007c0006 a0010c0013 a0012c0012 a0013c0015 a0014c0016 a0016c0018 a0018c0019 a0019c0020 a0020c0023 a0021c0024 a0023c0022 a0024c0027 a0025c0026 a0026c0031 a0028c0032 a0029c0034 a0030c0035 a0031c0030 a0032c0033	a0002c0002t0005 a0003c0003t0002 a0005c0008t0006 others(22): Show a0002c0002t0005 a0003c0003t0002 a0005c0008t0006 a0005c0010t0009 a0006c0005t0002 a0007c0006t0003 a0010c0013t0011 a0012c0012t0003 a0013c0015t0008 a0014c0016t0010 a0014c0016t0012 a0016c0018t0008 a0018c0019t0003 a0019c0020t0010 a0020c0023t0006 a0021c0024t0010 a0023c0022t0012 a0024c0027t0006 a0025c0026t0006 a0026c0031t0003 a0028c0032t0003 a0029c0034t0006 a0030c0035t0009 a0031c0030t0011 a0032c0033t0011	a0002c0002t0005g0005 a0002c0002t0005g0011 a0002c0002t0005g0017 others(53): Show a0002c0002t0005g0005 a0002c0002t0005g0011 a0002c0002t0005g0017 a0002c0002t0005g0058 a0002c0002t0005g0059 a0003c0003t0002g0008 a0003c0003t0002g0015 a0003c0003t0002g0023 a0003c0003t0002g0028 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0002g0043 a0003c0003t0002g0044 a0005c0008t0006g0016 a0005c0008t0006g0029 a0005c0008t0006g0030 a0005c0008t0006g0049 a0005c0010t0009g0024 a0005c0010t0009g0032 a0005c0010t0009g0052 a0005c0010t0009g0053 a0005c0010t0009g0056 a0006c0005t0002g0007 a0006c0005t0002g0014 a0006c0005t0002g0036 a0006c0005t0002g0040 a0007c0006t0003g0004 a0007c0006t0003g0046 a0007c0006t0003g0048 a0010c0013t0011g0020 a0010c0013t0011g0061 a0010c0013t0011g0062 a0012c0012t0003g0010 a0012c0012t0003g0057 a0013c0015t0008g0012 a0014c0016t0010g0060 a0014c0016t0012g0018 a0016c0018t0008g0027 a0016c0018t0008g0038 a0016c0018t0008g0039 a0018c0019t0003g0022 a0018c0019t0003g0047 a0019c0020t0010g0019 a0020c0023t0006g0034 a0020c0023t0006g0054 a0021c0024t0010g0025 a0023c0022t0012g0026 a0023c0022t0012g0037 a0024c0027t0006g0031 a0025c0026t0006g0033 a0026c0031t0003g0045 a0028c0032t0003g0055 a0029c0034t0006g0050 a0030c0035t0009g0051 a0031c0030t0011g0064 a0032c0033t0011g0063	131	203	0.6453	0	c.115 others(3): Show c.115C>T	p.Gln others(3): Show p.Gln39*	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	2/6	221/1223	115/801	39/266		chr6	TogoVar
HLA-DRB1_chr6_32573775_32594848	32584366	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(133): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18955.hp1 NA18968.hp2 NA18969.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0005 others(21): Show a0002 a0003 a0005 a0006 a0007 a0010 a0012 a0013 a0014 a0015 a0016 a0018 a0019 a0020 a0021 a0023 a0024 a0025 a0026 a0028 a0029 a0030 a0031 a0032	a0002c0002 a0003c0003 a0005c0008 others(22): Show a0002c0002 a0003c0003 a0005c0008 a0005c0010 a0006c0005 a0007c0006 a0010c0013 a0012c0012 a0013c0015 a0014c0016 a0015c0014 a0016c0018 a0018c0019 a0019c0020 a0020c0023 a0021c0024 a0023c0022 a0024c0027 a0025c0026 a0026c0031 a0028c0032 a0029c0034 a0030c0035 a0031c0030 a0032c0033	a0002c0002t0005 a0003c0003t0002 a0005c0008t0006 others(23): Show a0002c0002t0005 a0003c0003t0002 a0005c0008t0006 a0005c0010t0009 a0006c0005t0002 a0007c0006t0003 a0010c0013t0011 a0012c0012t0003 a0013c0015t0008 a0014c0016t0010 a0014c0016t0012 a0015c0014t0013 a0016c0018t0008 a0018c0019t0003 a0019c0020t0010 a0020c0023t0006 a0021c0024t0010 a0023c0022t0012 a0024c0027t0006 a0025c0026t0006 a0026c0031t0003 a0028c0032t0003 a0029c0034t0006 a0030c0035t0009 a0031c0030t0011 a0032c0033t0011	a0002c0002t0005g0005 a0002c0002t0005g0011 a0002c0002t0005g0017 others(54): Show a0002c0002t0005g0005 a0002c0002t0005g0011 a0002c0002t0005g0017 a0002c0002t0005g0058 a0002c0002t0005g0059 a0003c0003t0002g0008 a0003c0003t0002g0015 a0003c0003t0002g0023 a0003c0003t0002g0028 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0002g0043 a0003c0003t0002g0044 a0005c0008t0006g0016 a0005c0008t0006g0029 a0005c0008t0006g0030 a0005c0008t0006g0049 a0005c0010t0009g0024 a0005c0010t0009g0032 a0005c0010t0009g0052 a0005c0010t0009g0053 a0005c0010t0009g0056 a0006c0005t0002g0007 a0006c0005t0002g0014 a0006c0005t0002g0036 a0006c0005t0002g0040 a0007c0006t0003g0004 a0007c0006t0003g0046 a0007c0006t0003g0048 a0010c0013t0011g0020 a0010c0013t0011g0061 a0010c0013t0011g0062 a0012c0012t0003g0010 a0012c0012t0003g0057 a0013c0015t0008g0012 a0014c0016t0010g0060 a0014c0016t0012g0018 a0015c0014t0013g0013 a0016c0018t0008g0027 a0016c0018t0008g0038 a0016c0018t0008g0039 a0018c0019t0003g0022 a0018c0019t0003g0047 a0019c0020t0010g0019 a0020c0023t0006g0034 a0020c0023t0006g0054 a0021c0024t0010g0025 a0023c0022t0012g0026 a0023c0022t0012g0037 a0024c0027t0006g0031 a0025c0026t0006g0033 a0026c0031t0003g0045 a0028c0032t0003g0055 a0029c0034t0006g0050 a0030c0035t0009g0051 a0031c0030t0011g0064 a0032c0033t0011g0063	136	208	0.6538	0	c.113 others(3): Show c.113G>A	p.Trp others(3): Show p.Trp38*	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	2/6	219/1223	113/801	38/266		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29724255	C C	A A	stop_gained stop_gained	HIGH	HG02132.hp2 HG02132.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0004 a0009c0010t0001g0004	1	442	0.0023	0	c.417 others(3): Show c.417C>A	p.Tyr others(4): Show p.Tyr139*	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding	3/7	447/1480	417/1329	139/442		chr6	TogoVar
HLA-G_chr6_29822825_29836021	29829546	C C	T T	stop_gained stop_gained	HIGH	NA18967.hp1 NA18967.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0001 a0013c0015t0001	a0013c0015t0001g0001 a0013c0015t0001g0001	1	478	0.0021	0	c.748 others(3): Show c.748C>T	p.Gln others(4): Show p.Gln250*	HLA-G	ENSG00000204632.13	transcript	ENST00000360323.11	protein_coding	4/7	768/1319	748/1017	250/338		chr6	TogoVar
HLCS_chr21_36743626_36971669	36767233	G G	A A	stop_gained stop_gained	HIGH	NA18940.hp1 NA18940.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0025 a0008c0011t0025	a0008c0011t0025g0129 a0008c0011t0025g0129	1	256	0.0039	0	c.194 others(4): Show c.1945C>T	p.Gln others(4): Show p.Gln649*	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	7/11	1976/8273	1945/2622	649/873		chr21	TogoVar
HMBS_chr11_119079881_119098549	119088701	G G	T T	stop_gained stop_gained	HIGH	NA19089.hp1 NA19089.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0160 a0005c0007t0002g0160	1	442	0.0023	0	c.154 others(3): Show c.154G>T	p.Glu others(3): Show p.Glu52*	HMBS	ENSG00000256269.11	transcript	ENST00000652429.1	protein_coding	3/14	307/1505	154/1086	52/361		chr11	TogoVar
HMCES_chr3_129273870_129311186	129290739	C C	T T	stop_gained stop_gained	HIGH	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0003 a0004c0010t0003	a0004c0010t0003g0060 a0004c0010t0003g0060	1	338	0.0030	0	c.388 others(3): Show c.388C>T	p.Arg others(4): Show p.Arg130*	HMCES	ENSG00000183624.14	transcript	ENST00000383463.9	protein_coding	4/7	447/2485	388/1065	130/354		chr3	TogoVar
HMCN2_chr9_130260760_130439123	130302964	C C	T T	stop_gained stop_gained	HIGH	HG00544.hp2 HG00544.hp2	a0028 a0028	a0028c0117 a0028c0117	a0028c0117t0001 a0028c0117t0001	a0028c0117t0001g0006 a0028c0117t0001g0006	1	256	0.0039	0	c.138 others(4): Show c.1384C>T	p.Arg others(4): Show p.Arg462*	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	9/98	1503/15789	1384/15240	462/5079		chr9	TogoVar
HMCN2_chr9_130260760_130439123	130307462	C C	A A	stop_gained stop_gained	HIGH	HG00140.hp2 HG00140.hp2	a0026 a0026	a0026c0172 a0026c0172	a0026c0172t0002 a0026c0172t0002	a0026c0172t0002g0227 a0026c0172t0002g0227	1	256	0.0039	0	c.209 others(4): Show c.2096C>A	p.Ser others(4): Show p.Ser699*	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	14/98	2215/15789	2096/15240	699/5079		chr9	TogoVar
HMCN2_chr9_130260760_130439123	130427505	G G	T T	stop_gained stop_gained	HIGH	HG02145.hp2 HG02615.hp2 HG03098.hp1 others(2): Show HG02145.hp2 HG02615.hp2 HG03098.hp1 HG03209.hp1 HG03579.hp2	a0015 a0057 a0072 others(1): Show a0015 a0057 a0072 a0079	a0015c0068 a0015c0110 a0057c0152 others(2): Show a0015c0068 a0015c0110 a0057c0152 a0072c0210 a0079c0136	a0015c0068t0001 a0015c0110t0001 a0057c0152t0002 others(2): Show a0015c0068t0001 a0015c0110t0001 a0057c0152t0002 a0072c0210t0002 a0079c0136t0002	a0015c0068t0001g0148 a0015c0110t0001g0081 a0057c0152t0002g0203 others(2): Show a0015c0068t0001g0148 a0015c0110t0001g0081 a0057c0152t0002g0203 a0072c0210t0002g0252 a0079c0136t0002g0209	5	256	0.0195	0	c.139 others(5): Show c.13951G>T	p.Glu others(5): Show p.Glu4651*	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	92/98	14070/15789	13951/15240	4651/5079		chr9	TogoVar

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