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
LCN12_chr9_136947273_136960497	136953641	CCTCAGCA others(57): Show CCTCAGCATGGACCTGCCAGCTTCCGGAGCCTTCCGCCTCCACCTGTCCC CTCCTACAGAGGCCA	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG02523.hp2 HG02523.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0036 a0003c0006t0001g0036	1	380	0.0026	-64	c.252 others(74): Show c.252-58_257delCTCAGCATGGACCTGCCAGCTTCCGGAGCCTTCCG CCTCCACCTGTCCCCTCCTACAGAGGCCA	p.Gly others(11): Show p.Gly85_Gln86del	LCN12	ENSG00000184925.12	transcript	ENST00000371633.8	protein_coding	3/6		252/579	84/192		chr9	TogoVar
LCORL_chr4_17836187_18026755	17874112	TCTC TCTC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp2 HG00639.hp2 HG00642.hp1 others(78): Show HG00438.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01258.hp1 HG01433.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02257.hp1 HG02615.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03225.hp2 HG03239.hp2 HG03579.hp1 HG03834.hp2 HG03927.hp2 HG04228.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18955.hp2 NA18959.hp1 NA18964.hp1 NA18970.hp1 NA18981.hp1 NA18985.hp2 NA18986.hp2 NA18995.hp1 NA18998.hp2 NA19002.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19043.hp2 NA19062.hp1 NA19066.hp1 NA19068.hp1 NA19072.hp1 NA19076.hp1 NA19085.hp2 NA19086.hp1 NA19240.hp2 NA20129.hp2	a0002 a0011 a0002 a0011	a0002c0002 a0002c0023 a0002c0026 others(1): Show a0002c0002 a0002c0023 a0002c0026 a0011c0013	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 others(13): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0012 a0002c0002t0014 a0002c0002t0020 a0002c0002t0021 a0002c0002t0033 a0002c0002t0034 a0002c0002t0035 a0002c0002t0037 a0002c0002t0038 a0002c0002t0039 a0002c0023t0002 a0002c0026t0005 a0011c0013t0002	a0002c0002t0001g0085 a0002c0002t0002g0004 a0002c0002t0002g0006 others(78): Show a0002c0002t0001g0085 a0002c0002t0002g0004 a0002c0002t0002g0006 a0002c0002t0002g0009 a0002c0002t0002g0020 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0170 a0002c0002t0002g0176 a0002c0002t0005g0111 a0002c0002t0005g0112 a0002c0002t0005g0114 a0002c0002t0005g0116 a0002c0002t0005g0117 a0002c0002t0005g0118 a0002c0002t0005g0209 a0002c0002t0005g0210 a0002c0002t0012g0047 a0002c0002t0012g0048 a0002c0002t0012g0057 a0002c0002t0014g0211 a0002c0002t0014g0212 a0002c0002t0014g0213 a0002c0002t0020g0274 a0002c0002t0020g0276 a0002c0002t0021g0008 a0002c0002t0033g0070 a0002c0002t0034g0016 a0002c0002t0035g0063 a0002c0002t0037g0050 a0002c0002t0038g0011 a0002c0002t0039g0056 a0002c0023t0002g0005 a0002c0026t0005g0115 a0011c0013t0002g0073 a0011c0013t0002g0074	81	290	0.2793	-3	c.487 others(12): Show c.4875_4877delGAG	p.Arg others(7): Show p.Arg1626del	LCORL	ENSG00000178177.17	transcript	ENST00000635767.2	protein_coding	7/8	4881/10321	4875/5616	1625/1871		chr4	TogoVar
LIAT1_chr17_405325_419666	413473	GGCCCTCA others(23): Show GGCCCTCAAGGGCTTCCACCCCGACCCCGAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02922.hp1 HG02922.hp1	a0012 a0012	a0012c0029 a0012c0029	a0012c0029t0001 a0012c0029t0001	a0012c0029t0001g0032 a0012c0029t0001g0032	1	432	0.0023	-30	c.660 others(37): Show c.660_689delCGCCCTCAAGGGCTTCCACCCCGACCCCGA	p.Asp others(13): Show p.Asp220_Pro229del	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding	2/2	678/1841	660/1272	220/423	INFO_REALIGN_3_PRIME	chr17	TogoVar
LIAT1_chr17_405325_419666	413620	CGAGGCCC others(23): Show CGAGGCCCTCAAGGGCTTCCACCCCGACCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(68): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01884.hp2 HG01891.hp1 HG02015.hp2 HG02145.hp1 HG02280.hp2 HG02486.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18939.hp2 NA18950.hp1 NA18957.hp1 NA18961.hp2 NA18964.hp1 NA18968.hp2 NA18969.hp1 NA18994.hp1 NA19007.hp1 NA19043.hp2 NA19063.hp2 NA19082.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0003 a0009 a0011 others(4): Show a0003 a0009 a0011 a0019 a0020 a0026 a0031	a0003c0003 a0003c0034 a0009c0009 others(5): Show a0003c0003 a0003c0034 a0009c0009 a0011c0012 a0019c0020 a0020c0028 a0026c0032 a0031c0031	a0003c0003t0001 a0003c0034t0001 a0009c0009t0001 others(5): Show a0003c0003t0001 a0003c0034t0001 a0009c0009t0001 a0011c0012t0001 a0019c0020t0001 a0020c0028t0001 a0026c0032t0001 a0031c0031t0001	a0003c0003t0001g0003 a0003c0003t0001g0037 a0003c0003t0001g0039 others(8): Show a0003c0003t0001g0003 a0003c0003t0001g0037 a0003c0003t0001g0039 a0003c0003t0001g0040 a0003c0034t0001g0003 a0009c0009t0001g0003 a0011c0012t0001g0003 a0019c0020t0001g0003 a0020c0028t0001g0003 a0026c0032t0001g0003 a0031c0031t0001g0003	71	431	0.1647	-30	c.792 others(37): Show c.792_821delCTTCCACCCCGACCCTGAGGCCCTCAAGGG	p.Phe others(13): Show p.Phe265_Gly274del	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding	2/2	810/1841	792/1272	264/423	INFO_REALIGN_3_PRIME	chr17	TogoVar
LIAT1_chr17_405325_419666	413771	AAGGCCCT others(23): Show AAGGCCCTCAAGGGTTTCCACACTGACCCCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02559.hp1 NA18971.hp1 HG02559.hp1 NA18971.hp1	a0021 a0027 a0021 a0027	a0021c0025 a0027c0021 a0021c0025 a0027c0021	a0021c0025t0001 a0027c0021t0001 a0021c0025t0001 a0027c0021t0001	a0021c0025t0001g0002 a0027c0021t0001g0002 a0021c0025t0001g0002 a0027c0021t0001g0002	2	340	0.0059	-30	c.942 others(37): Show c.942_971delTTTCCACACTGACCCCGAGGCCCTCAAGGG	p.Phe others(13): Show p.Phe315_Gly324del	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding	2/2	960/1841	942/1272	314/423	INFO_REALIGN_3_PRIME	chr17	TogoVar
LOC112267897_chr13_63741741_63753176	63746843	AGCTATGG others(77): Show AGCTATGGCTGTGGCTATGGCTCTGGTTATGGCTATGGCTATGGCTCCAG CTATGGCTGTGGCTATGGAACTGGCTACAGCTGTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp1 HG02109.hp1 HG02451.hp1 others(7): Show HG01884.hp1 HG02109.hp1 HG02451.hp1 HG02622.hp2 HG02886.hp2 HG02922.hp1 HG03195.hp1 HG03486.hp1 HG03540.hp2 NA20300.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0000 a0005c0005t0007g0000	10	424	0.0236	-84	c.77_ others(90): Show c.77_160delATGGCTATGGCTCCAGCTATGGCTGTGGCTATGGAACTG GCTACAGCTGTGGCTATGGCTGTGGCTATGGCTCTGGTTATGGCT	p.Tyr others(11): Show p.Tyr26_Gly53del	LOC112267897	ENSG00000237378.3	transcript	ENST00000611641.1	protein_coding	1/1	137/1436	77/390	26/129	INFO_REALIGN_3_PRIME	chr13	TogoVar
LOC112267897_chr13_63741741_63753176	63746888	TCCAGCTA others(101): Show TCCAGCTATGGCTGTGGCTATGGAACTGGCTACAGCTGTGGCTATGGCTG TGGCTATGGCTCTGGTTATGGCTGTGGCTATGGCTCCAGCTATGGCTGTG GCTATGGAA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03209.hp2 HG03209.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0007 a0008c0009t0007	a0008c0009t0007g0000 a0008c0009t0007g0000	1	424	0.0024	-108	c.90_ others(6): Show c.90_197del	p.Ser others(11): Show p.Ser31_Thr66del	LOC112267897	ENSG00000237378.3	transcript	ENST00000611641.1	protein_coding	1/1	150/1436	90/390	30/129	INFO_REALIGN_3_PRIME	chr13	TogoVar
LOC112267897_chr13_63741741_63753176	63746891	AGCTATGG others(29): Show AGCTATGGCTGTGGCTATGGAACTGGCTACAGCTGTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00558.hp2 HG01358.hp2 HG02004.hp2 others(2): Show HG00558.hp2 HG01358.hp2 HG02004.hp2 HG03516.hp2 NA19064.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0021 a0007c0007t0001 a0007c0007t0021	a0007c0007t0001g0000 a0007c0007t0021g0000 a0007c0007t0001g0000 a0007c0007t0021g0000	5	424	0.0118	-36	c.111 others(43): Show c.111_146delAACTGGCTACAGCTGTGGCTATGGCTGTGGCTATGG	p.Thr others(11): Show p.Thr38_Gly49del	LOC112267897	ENSG00000237378.3	transcript	ENST00000611641.1	protein_coding	1/1	171/1436	111/390	37/129	INFO_REALIGN_3_PRIME	chr13	TogoVar
LOC112267897_chr13_63741741_63753176	63746981	GGCTGTGG others(17): Show GGCTGTGGCTATGGAACTGGCTACA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00558.hp2 HG01358.hp2 HG02004.hp2 others(2): Show HG00558.hp2 HG01358.hp2 HG02004.hp2 HG03516.hp2 NA19064.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0021 a0007c0007t0001 a0007c0007t0021	a0007c0007t0001g0000 a0007c0007t0021g0000 a0007c0007t0001g0000 a0007c0007t0021g0000	5	424	0.0118	-24	c.195 others(31): Show c.195_218delAACTGGCTACAGCTGTGGCTATGG	p.Thr others(11): Show p.Thr66_Gly73del	LOC112267897	ENSG00000237378.3	transcript	ENST00000611641.1	protein_coding	1/1	255/1436	195/390	65/129	INFO_REALIGN_3_PRIME	chr13	TogoVar
LOC647264_chr13_63827361_63838053	63832829	GCCAGAGC others(41): Show GCCAGAGCCATAGCCACAGCCATAGCTGGAGCCATAGCCACAGCCATAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03195.hp2 NA21309.hp1 HG03195.hp2 NA21309.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0000 a0005c0006t0001g0000	2	435	0.0046	-48	c.117 others(55): Show c.117_164delTTATGGCTGTGGCTATGGCTCCAGCTATGGCTGTGGCT ATGGCTCTGG	p.Tyr others(11): Show p.Tyr40_Gly55del	LOC647264	ENSG00000285566.2	transcript	ENST00000648713.2	protein_coding	1/1	224/693	117/330	39/109		chr13	TogoVar
LOC647264_chr13_63827361_63838053	63832832	AGAGCCAT others(17): Show AGAGCCATAGCCACAGCCATAGCTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp1 HG02109.hp2 HG02451.hp1 others(8): Show HG01884.hp1 HG02109.hp2 HG02451.hp1 HG02622.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG03195.hp1 HG03209.hp2 HG03540.hp1 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0008 a0003c0003 a0003c0008	a0003c0003t0004 a0003c0008t0005 a0003c0003t0004 a0003c0008t0005	a0003c0003t0004g0000 a0003c0008t0005g0000 a0003c0003t0004g0000 a0003c0008t0005g0000	11	440	0.0250	-24	c.138 others(31): Show c.138_161delCAGCTATGGCTGTGGCTATGGCTC	p.Ser others(11): Show p.Ser47_Ser54del	LOC647264	ENSG00000285566.2	transcript	ENST00000648713.2	protein_coding	1/1	221/693	138/330	46/109		chr13	TogoVar
LOC647264_chr13_63827361_63838053	63832880	AGAGCCAT others(17): Show AGAGCCATAGCCACAGCCATAGCTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01109.hp1 HG01175.hp2 HG01255.hp2 others(11): Show HG01109.hp1 HG01175.hp2 HG01255.hp2 HG02055.hp1 HG02109.hp1 HG02258.hp2 HG02280.hp1 HG02615.hp2 HG03098.hp1 HG03139.hp1 HG03453.hp1 HG03453.hp2 HG03540.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0006 a0002c0002t0003 a0002c0002t0006	a0002c0002t0003g0000 a0002c0002t0006g0000 a0002c0002t0003g0000 a0002c0002t0006g0000	14	440	0.0318	-24	c.90_ others(30): Show c.90_113delCAGCTATGGCTGTGGCTATGGCTC	p.Ser others(11): Show p.Ser31_Ser38del	LOC647264	ENSG00000285566.2	transcript	ENST00000648713.2	protein_coding	1/1	173/693	90/330	30/109		chr13	TogoVar
LOC93622_chr4_6669075_6681047	6674464	GGTGGCTC others(29): Show GGTGGCTCGGCTGTGCGCCGAAGCAGAGAGGAAGGCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01168.hp2 HG01168.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0000 a0003c0005t0004g0000	1	460	0.0022	-36	c.254 others(43): Show c.254_289delTGGCTCGGCTGTGCGCCGAAGCAGAGAGGAAGGCTG	p.Val others(11): Show p.Val85_Ala96del	LOC93622	ENSG00000170846.17	transcript	ENST00000635031.2	protein_coding	1/1	392/1973	254/360	85/119	INFO_REALIGN_3_PRIME	chr4	TogoVar
LORICRIN_chr1_153254687_153267124	153261270	TGGGGGCG others(83): Show TGGGGGCGGCTCCGGCTGCTTCTCCTCCGGTGGCGGCGGCTCCTCCGGGG GCGGCTCCGGCTGCTTCTCCAGCGGTGGGGGCGGCTCCTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01361.hp1 HG01361.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0001 a0006c0016t0001	a0006c0016t0001g0001 a0006c0016t0001g0001	1	420	0.0024	-90	c.351 others(97): Show c.351_440delTGGCGGCGGCTCCTCCGGGGGCGGCTCCGGCTGCTTCT CCAGCGGTGGGGGCGGCTCCTCCGGGGGCGGCTCCGGCTGCTTCTCCTCC GG	p.Gly others(13): Show p.Gly118_Gly147del	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding	2/2	421/1245	351/939	117/312	INFO_REALIGN_3_PRIME	chr1	TogoVar
LOXHD1_chr18_46472273_46662220	46560316	CTCT CTCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01106.hp1 HG01516.hp2 HG03654.hp2 others(7): Show HG01106.hp1 HG01516.hp2 HG03654.hp2 HG04199.hp2 NA18951.hp2 NA18959.hp2 NA18993.hp2 NA19065.hp1 NA19079.hp2 NA19085.hp2	a0006 a0018 a0049 a0006 a0018 a0049	a0006c0007 a0006c0066 a0006c0067 others(2): Show a0006c0007 a0006c0066 a0006c0067 a0018c0021 a0049c0045	a0006c0007t0001 a0006c0007t0002 a0006c0066t0001 others(3): Show a0006c0007t0001 a0006c0007t0002 a0006c0066t0001 a0006c0067t0001 a0018c0021t0001 a0049c0045t0001	a0006c0007t0001g0099 a0006c0007t0001g0228 a0006c0007t0002g0024 others(7): Show a0006c0007t0001g0099 a0006c0007t0001g0228 a0006c0007t0002g0024 a0006c0007t0002g0025 a0006c0007t0002g0029 a0006c0066t0001g0177 a0006c0067t0001g0198 a0018c0021t0001g0153 a0018c0021t0001g0171 a0049c0045t0001g0150	10	268	0.0373	-3	c.282 others(12): Show c.2825_2827delAGA	p.Lys others(6): Show p.Lys942del	LOXHD1	ENSG00000167210.17	transcript	ENST00000642948.1	protein_coding	19/41	3014/7208	2825/6822	942/2273		chr18	TogoVar
LRIG3_chr12_58867155_58925504	58876497	CTGG CTGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp1 HG02818.hp1 HG03098.hp1 others(2): Show HG01884.hp1 HG02818.hp1 HG03098.hp1 HG03225.hp1 HG03453.hp2	a0002 a0002	a0002c0008 a0002c0027 a0002c0008 a0002c0027	a0002c0008t0001 a0002c0027t0001 a0002c0008t0001 a0002c0027t0001	a0002c0008t0001g0031 a0002c0008t0001g0042 a0002c0008t0001g0074 others(1): Show a0002c0008t0001g0031 a0002c0008t0001g0042 a0002c0008t0001g0074 a0002c0027t0001g0139	5	276	0.0181	-3	c.264 others(12): Show c.2640_2642delCCA	p.His others(6): Show p.His880del	LRIG3	ENSG00000139263.12	transcript	ENST00000320743.8	protein_coding	16/19	2911/4046	2640/3360	880/1119		chr12	TogoVar
LRP8_chr1_53237364_53333070	53327836	AGCT AGCT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp2 NA18943.hp1 NA18983.hp2 HG01891.hp2 NA18943.hp1 NA18983.hp2	a0005 a0005	a0005c0010 a0005c0013 a0005c0010 a0005c0013	a0005c0010t0020 a0005c0013t0004 a0005c0010t0020 a0005c0013t0004	a0005c0010t0020g0015 a0005c0010t0020g0016 a0005c0013t0004g0032 a0005c0010t0020g0015 a0005c0010t0020g0016 a0005c0013t0004g0032	3	294	0.0102	-3	c.74_ others(8): Show c.74_76delAGC	p.Gln others(5): Show p.Gln25del	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	1/19	234/7704	74/2892	25/963		chr1	TogoVar
LRRC39_chr1_100143448_100183256	100152449	CTCT CTCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01109.hp2 HG02257.hp2 HG03579.hp1 others(2): Show HG01109.hp2 HG02257.hp2 HG03579.hp1 NA19043.hp1 NA19240.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0010 a0002c0003t0001g0057 a0002c0003t0001g0170 a0002c0003t0001g0010 a0002c0003t0001g0057 a0002c0003t0001g0170	5	286	0.0175	-3	c.885 others(10): Show c.885_887delAGA	p.Glu others(6): Show p.Glu296del	LRRC39	ENSG00000122477.14	transcript	ENST00000370137.6	protein_coding	9/10	1127/1842	885/1008	295/335		chr1	TogoVar
LRRC49_chr15_70887826_71058658	70984141	GCAA GCAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG00408.hp1 HG00544.hp1 others(84): Show HG00140.hp1 HG00408.hp1 HG00544.hp1 HG00642.hp1 HG00733.hp2 HG00738.hp2 HG01070.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02683.hp2 HG02886.hp1 HG03209.hp1 HG03486.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG04204.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18980.hp2 NA18981.hp1 NA18985.hp1 NA18986.hp1 NA18994.hp1 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp2 NA19043.hp2 NA19058.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19070.hp2 NA19078.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19090.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0009 a0002c0002 a0002c0008 a0002c0009	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(6): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0010 a0002c0002t0011 a0002c0002t0016 a0002c0002t0022 a0002c0008t0001 a0002c0009t0001	a0002c0002t0001g0011 a0002c0002t0001g0016 a0002c0002t0001g0024 others(84): Show a0002c0002t0001g0011 a0002c0002t0001g0016 a0002c0002t0001g0024 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0058 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0076 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0145 a0002c0002t0001g0148 a0002c0002t0001g0150 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0221 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0257 a0002c0002t0002g0040 a0002c0002t0004g0015 a0002c0002t0004g0127 a0002c0002t0004g0128 a0002c0002t0004g0157 a0002c0002t0010g0033 a0002c0002t0010g0034 a0002c0002t0011g0097 a0002c0002t0011g0098 a0002c0002t0016g0178 a0002c0002t0022g0174 a0002c0008t0001g0158 a0002c0009t0001g0030	87	260	0.3346	-3	c.106 others(12): Show c.1061_1063delAAC	p.Gln others(6): Show p.Gln354del	LRRC49	ENSG00000137821.12	transcript	ENST00000260382.10	protein_coding	11/16	1130/6176	1061/2061	354/686	INFO_REALIGN_3_PRIME	chr15	TogoVar
LRRC66_chr4_51988652_52025363	51994622	CTCAGATC others(8): Show CTCAGATCTATCAGTG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03710.hp2 HG03710.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0002 a0008c0012t0002	a0008c0012t0002g0051 a0008c0012t0002g0051	1	334	0.0030	-15	c.238 others(24): Show c.2385_2399delCACTGATAGATCTGA	p.Asp others(13): Show p.Asp795_Ser799del	LRRC66	ENSG00000188993.4	transcript	ENST00000682860.1	protein_coding	5/5	2464/3435	2385/2643	795/880		chr4	TogoVar
LRRC71_chr1_156915632_156938094	156932914	GGGATCCC others(5): Show GGGATCCCATCAA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19074.hp2 NA19074.hp2	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0001 a0013c0012t0001	a0013c0012t0001g0001 a0013c0012t0001g0001	1	400	0.0025	-12	c.162 others(21): Show c.1628_1639delATCCCATCAAGG	p.Asp others(13): Show p.Asp543_Lys546del	LRRC71	ENSG00000160838.14	transcript	ENST00000337428.8	protein_coding	15/15	1800/1977	1628/1680	543/559	INFO_REALIGN_3_PRIME	chr1	TogoVar
LYPD8_chr1_248734415_248760759	248748303	GTGTTGCT others(8): Show GTGTTGCTGCATTCCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03654.hp1 HG03654.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0129 a0007c0009t0001g0129	1	372	0.0027	-15	c.308 others(22): Show c.308_322delAGGAATGCAGCAACA	p.Lys others(13): Show p.Lys103_Asn107del	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/7	574/1162	308/714	103/237		chr1	TogoVar
MAD2L2_chr1_11669480_11686148	11680581	TTGTCGTG others(8): Show TTGTCGTGTGAGCGTG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0127 a0002c0003t0003g0127	1	428	0.0023	-15	c.6_2 others(19): Show c.6_20delCACGCTCACACGACA	p.Thr others(9): Show p.Thr3_Gln7del	MAD2L2	ENSG00000116670.16	transcript	ENST00000376692.9	protein_coding	2/9	142/1053	6/636	2/211		chr1	TogoVar
MAFA_chr8_143423064_143435732	143429783	ATGG ATGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(409): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0008 others(5): Show a0001c0001 a0001c0002 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0004c0007 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0002t0002 a0001c0002t0018 a0001c0002t0029 a0001c0008t0005 a0001c0009t0001 a0001c0010t0009 a0001c0011t0022 a0004c0007t0001 a0006c0012t0004	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(39): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0007g0000 a0001c0001t0008g0000 a0001c0001t0009g0000 a0001c0001t0010g0000 a0001c0001t0012g0000 a0001c0001t0013g0000 a0001c0001t0014g0000 a0001c0001t0015g0000 a0001c0001t0016g0000 a0001c0001t0017g0000 a0001c0001t0019g0000 a0001c0001t0020g0000 a0001c0001t0021g0000 a0001c0001t0023g0000 a0001c0001t0024g0000 a0001c0001t0025g0000 a0001c0001t0026g0000 a0001c0001t0027g0000 a0001c0001t0031g0000 a0001c0001t0032g0000 a0001c0001t0033g0000 a0001c0001t0034g0000 a0001c0001t0035g0000 a0001c0001t0036g0000 a0001c0001t0037g0000 a0001c0001t0039g0000 a0001c0001t0040g0000 a0001c0001t0041g0000 a0001c0002t0002g0000 a0001c0002t0018g0000 a0001c0002t0029g0000 a0001c0008t0005g0000 a0001c0009t0001g0000 a0001c0010t0009g0000 a0001c0011t0022g0000 a0004c0007t0001g0000 a0006c0012t0004g0000	412	435	0.9471	-3	c.621 others(10): Show c.621_623delCCA	p.His others(6): Show p.His208del	MAFA	ENSG00000182759.4	transcript	ENST00000333480.3	protein_coding	1/1	949/2669	621/1062	207/353		chr8	TogoVar
MAFA_chr8_143423064_143435732	143429783	ATGGTGG ATGGTGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00735.hp2 HG01081.hp2 HG01175.hp1 others(6): Show HG00735.hp2 HG01081.hp2 HG01175.hp1 HG01346.hp1 HG01496.hp2 HG03209.hp2 HG03540.hp2 NA20129.hp2 NA21309.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0003 a0003c0004t0002 a0003c0004t0003	a0003c0004t0002g0000 a0003c0004t0003g0000 a0003c0004t0002g0000 a0003c0004t0003g0000	9	32	0.2813	-6	c.618 others(13): Show c.618_623delCCACCA	p.His others(13): Show p.His207_His208del	MAFA	ENSG00000182759.4	transcript	ENST00000333480.3	protein_coding	1/1	949/2669	618/1062	206/353		chr8	TogoVar
MAF_chr16_79588838_79605737	79599201	TCCGCCGC others(5): Show TCCGCCGCCGCCG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18985.hp2 NA18990.hp1 NA18985.hp2 NA18990.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0036 a0004c0006t0003g0036	2	463	0.0043	-12	c.690 others(19): Show c.690_701delCGGCGGCGGCGG	p.Gly others(13): Show p.Gly231_Gly234del	MAF	ENSG00000178573.7	transcript	ENST00000326043.5	protein_coding	1/2	1536/2669	690/1212	230/403		chr16	TogoVar
MAGEA4_chrX_151907889_151930170	151923783	TCTC TCTC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01109.hp1 HG02145.hp1 HG02630.hp1 others(6): Show HG01109.hp1 HG02145.hp1 HG02630.hp1 HG02717.hp1 HG02976.hp2 HG03041.hp1 HG03225.hp1 NA19043.hp1 NA20300.hp2	a0003 a0006 a0003 a0006	a0003c0007 a0003c0008 a0003c0016 others(1): Show a0003c0007 a0003c0008 a0003c0016 a0006c0010	a0003c0007t0002 a0003c0008t0002 a0003c0016t0002 others(1): Show a0003c0007t0002 a0003c0008t0002 a0003c0016t0002 a0006c0010t0002	a0003c0007t0002g0012 a0003c0007t0002g0035 a0003c0008t0002g0027 others(4): Show a0003c0007t0002g0012 a0003c0007t0002g0035 a0003c0008t0002g0027 a0003c0008t0002g0029 a0003c0008t0002g0030 a0003c0016t0002g0032 a0006c0010t0002g0031	9	342	0.0263	-3	c.129 others(10): Show c.129_131delCTC	p.Ser others(5): Show p.Ser44del	MAGEA4	ENSG00000147381.12	transcript	ENST00000276344.6	protein_coding	3/3	347/1724	129/954	43/317	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB6_chrX_26187440_26200646	26194092	CGATGTGG others(119): Show CGATGTGGCTGCCAACGGCCAAGATGAGAAAAGTCCAAGCACCTCCCGTG ATGCCTCCGTTCCTCAGGAGTCTCAGGGAGCTTCACCCACTGGCTCTCCT GATGCAGGTGTTTCAGGCTCAAAATAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00408.hp1 HG00597.hp1 others(32): Show HG00099.hp2 HG00408.hp1 HG00597.hp1 HG00597.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02056.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp1 HG02897.hp1 HG02970.hp2 HG03516.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18947.hp1 NA18950.hp2 NA18954.hp2 NA18960.hp1 NA18961.hp1 NA18967.hp1 NA18977.hp1 NA18981.hp1 NA18992.hp2 NA18998.hp2 NA19009.hp1 NA19078.hp1 NA19084.hp2	a0002 a0011 a0002 a0011	a0002c0002 a0011c0011 a0002c0002 a0011c0011	a0002c0002t0001 a0011c0011t0001 a0002c0002t0001 a0011c0011t0001	a0002c0002t0001g0001 a0002c0002t0001g0011 a0011c0011t0001g0001 a0002c0002t0001g0001 a0002c0002t0001g0011 a0011c0011t0001g0001	35	318	0.1101	-126	c.288 others(7): Show c.288_413del	p.Ser others(12): Show p.Ser97_Thr138del	MAGEB6	ENSG00000176746.6	transcript	ENST00000379034.1	protein_coding	2/2	437/1949	288/1224	96/407	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141905984	CCCCAGTC others(98): Show CCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTT ATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGG GTTTTG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18998.hp2 NA18998.hp2	a0103 a0103	a0103c0134 a0103c0134	a0103c0134t0001 a0103c0134t0001	a0103c0134t0001g0002 a0103c0134t0001g0002	1	356	0.0028	-105	c.591 others(7): Show c.591_695del	p.Leu others(13): Show p.Leu198_Pro232del	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	877/4256	591/3429	197/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906098	CCTCTCCA others(98): Show CCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCT TTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCC AGTCTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp2 HG02074.hp1 HG02080.hp2 others(5): Show HG00438.hp2 HG02074.hp1 HG02080.hp2 HG02293.hp2 HG03491.hp1 NA18992.hp1 NA19056.hp1 NA20129.hp2	a0007 a0072 a0113 a0007 a0072 a0113	a0007c0007 a0072c0119 a0113c0070 a0007c0007 a0072c0119 a0113c0070	a0007c0007t0001 a0072c0119t0002 a0113c0070t0005 a0007c0007t0001 a0072c0119t0002 a0113c0070t0005	a0007c0007t0001g0001 a0072c0119t0002g0006 a0113c0070t0005g0003 a0007c0007t0001g0001 a0072c0119t0002g0006 a0113c0070t0005g0003	8	351	0.0228	-105	c.722 others(7): Show c.722_826del	p.Ser others(13): Show p.Ser241_Ser275del	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1008/4256	722/3429	241/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906140	CTGAGTCT others(98): Show CTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGG TTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCA CTTTAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19065.hp1 NA19065.hp1	a0107 a0107	a0107c0099 a0107c0099	a0107c0099t0001 a0107c0099t0001	a0107c0099t0001g0002 a0107c0099t0001g0002	1	293	0.0034	-105	c.755 others(7): Show c.755_859del	p.Phe others(13): Show p.Phe252_Ser286del	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1041/4256	755/3429	252/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906380	ACTCACAG others(98): Show ACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCTTCTCCAGATTCCTAT GACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAGAGTTCTCCTG AGAGTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01070.hp2 HG01071.hp1 HG02257.hp2 HG01070.hp2 HG01071.hp1 HG02257.hp2	a0036 a0069 a0036 a0069	a0036c0033 a0069c0088 a0036c0033 a0069c0088	a0036c0033t0001 a0069c0088t0001 a0036c0033t0001 a0069c0088t0001	a0036c0033t0001g0001 a0069c0088t0001g0001 a0036c0033t0001g0001 a0069c0088t0001g0001	3	357	0.0084	-105	c.981 others(8): Show c.981_1085del	p.His others(13): Show p.His327_Ala361del	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1267/4256	981/3429	327/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEL2_chr15_23638549_23652867	23646336	TGGGGCCT others(14): Show TGGGGCCTGGCGGATCACAGCG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19043.hp2 NA19043.hp2	a0031 a0031	a0031c0024 a0031c0024	a0031c0024t0001 a0031c0024t0001	a0031c0024t0001g0000 a0031c0024t0001g0000	1	434	0.0023	-21	c.138 others(30): Show c.1386_1406delCGCTGTGATCCGCCAGGCCCC	p.Ala others(13): Show p.Ala463_Pro469del	MAGEL2	ENSG00000254585.5	transcript	ENST00000650528.1	protein_coding	1/1	1531/4319	1386/3750	462/1249		chr15	TogoVar
MAGEL2_chr15_23638549_23652867	23646357	GGGGGCCT others(14): Show GGGGGCCTGGCGGATCACGGGT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03490.hp1 HG03688.hp1 HG03490.hp1 HG03688.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0001 a0014c0015t0001	a0014c0015t0001g0000 a0014c0015t0001g0000	2	434	0.0046	-21	c.136 others(30): Show c.1365_1385delACCCGTGATCCGCCAGGCCCC	p.Pro others(13): Show p.Pro456_Pro462del	MAGEL2	ENSG00000254585.5	transcript	ENST00000650528.1	protein_coding	1/1	1510/4319	1365/3750	455/1249		chr15	TogoVar
MAGEL2_chr15_23638549_23652867	23646456	CGGTGGTG others(14): Show CGGTGGTGGGCCAGGGCGGATG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18957.hp2 NA18957.hp2	a0028 a0028	a0028c0033 a0028c0033	a0028c0033t0001 a0028c0033t0001	a0028c0033t0001g0000 a0028c0033t0001g0000	1	434	0.0023	-21	c.126 others(30): Show c.1266_1286delCATCCGCCCTGGCCCACCACC	p.Ile others(13): Show p.Ile423_Pro429del	MAGEL2	ENSG00000254585.5	transcript	ENST00000650528.1	protein_coding	1/1	1411/4319	1266/3750	422/1249		chr15	TogoVar
MAGI1_chr3_65348526_66043918	65439904	CTGCTGCT others(5): Show CTGCTGCTGCTGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19240.hp2 NA19240.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0067 a0007c0010t0001g0067	1	104	0.0096	-12	c.123 others(21): Show c.1233_1244delACAGCAGCAGCA	p.Gln others(13): Show p.Gln412_Gln415del	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	9/23	1854/7851	1233/4389	411/1462		chr3	TogoVar
MALT1_chr18_58666465_58759477	58671683	TCGGCCGC others(26): Show TCGGCCGCCCCCACGGGGCCGCTGCTCGCCCCTC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02027.hp2 HG02027.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0014 a0004c0009t0014	a0004c0009t0014g0232 a0004c0009t0014g0232	1	404	0.0025	-33	c.47_ others(38): Show c.47_79delCCCCCACGGGGCCGCTGCTCGCCCCTCCGGCCG	p.Ala others(11): Show p.Ala16_Ala26del	MALT1	ENSG00000172175.16	transcript	ENST00000649217.2	protein_coding	1/17	226/9289	47/2475	16/824	INFO_REALIGN_3_PRIME	chr18	TogoVar
MAMDC4_chr9_136847346_136865799	136855250	TCAGATCC others(11): Show TCAGATCCTCCTGGCCGGG	T T	disruptive_inframe_deletion others(1): Show disruptive_inframe_deletion splice_region_variant	MODERATE	HG02040.hp2 HG02040.hp2	a0017 a0017	a0017c0038 a0017c0038	a0017c0038t0001 a0017c0038t0001	a0017c0038t0001g0031 a0017c0038t0001g0031	1	348	0.0029	-18	c.119 others(27): Show c.1199_1216delTCCTCCTGGCCGGGCAGA	p.Ile others(13): Show p.Ile400_Gln405del	MAMDC4	ENSG00000177943.14	transcript	ENST00000317446.7	protein_coding	11/27	1270/3681	1199/3414	400/1137	INFO_REALIGN_3_PRIME	chr9	TogoVar
MAML2_chr11_95971598_96348195	96092039	TTGC TTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01109.hp2 HG01243.hp1 HG01891.hp2 others(6): Show HG01109.hp2 HG01243.hp1 HG01891.hp2 HG02723.hp1 HG02809.hp1 HG02970.hp1 HG03098.hp1 HG03516.hp2 NA21309.hp1	a0004 a0005 a0004 a0005	a0004c0007 a0005c0009 a0004c0007 a0005c0009	a0004c0007t0002 a0004c0007t0005 a0004c0007t0007 others(6): Show a0004c0007t0002 a0004c0007t0005 a0004c0007t0007 a0004c0007t0012 a0004c0007t0019 a0005c0009t0003 a0005c0009t0005 a0005c0009t0023 a0005c0009t0030	a0004c0007t0002g0064 a0004c0007t0005g0005 a0004c0007t0007g0071 others(6): Show a0004c0007t0002g0064 a0004c0007t0005g0005 a0004c0007t0007g0071 a0004c0007t0012g0088 a0004c0007t0019g0098 a0005c0009t0003g0178 a0005c0009t0005g0076 a0005c0009t0023g0048 a0005c0009t0030g0085	9	228	0.0395	-3	c.198 others(12): Show c.1989_1991delGCA	p.Gln others(6): Show p.Gln664del	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/5	3291/7121	1989/3471	663/1156		chr11	TogoVar
MAML2_chr11_95971598_96348195	96092210	TTGCTGC TTGCTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp2 HG01069.hp1 HG02300.hp2 others(9): Show HG00639.hp2 HG01069.hp1 HG02300.hp2 HG02647.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03239.hp2 HG03579.hp2 HG03834.hp2 HG03927.hp2 HG06807.hp2	a0003 a0003	a0003c0005 a0003c0008 a0003c0023 a0003c0005 a0003c0008 a0003c0023	a0003c0005t0004 a0003c0005t0007 a0003c0005t0041 others(4): Show a0003c0005t0004 a0003c0005t0007 a0003c0005t0041 a0003c0005t0048 a0003c0008t0001 a0003c0008t0037 a0003c0023t0006	a0003c0005t0004g0156 a0003c0005t0004g0177 a0003c0005t0007g0015 others(9): Show a0003c0005t0004g0156 a0003c0005t0004g0177 a0003c0005t0007g0015 a0003c0005t0007g0043 a0003c0005t0041g0096 a0003c0005t0048g0230 a0003c0008t0001g0152 a0003c0008t0001g0165 a0003c0008t0001g0205 a0003c0008t0001g0208 a0003c0008t0037g0122 a0003c0023t0006g0206	12	37	0.3243	-6	c.181 others(15): Show c.1815_1820delGCAGCA	p.Gln others(13): Show p.Gln606_Gln607del	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/5	3120/7121	1815/3471	605/1156		chr11	TogoVar
MAML2_chr11_95971598_96348195	96092210	TTGCTGCT others(2): Show TTGCTGCTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(178): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18949.hp1 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19084.hp1 NA19084.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2	a0001 a0006 a0009 others(6): Show a0001 a0006 a0009 a0010 a0011 a0012 a0013 a0015 a0016	a0001c0001 a0001c0002 a0001c0004 others(16): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0013 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0025 a0001c0026 a0006c0011 a0009c0012 a0010c0016 a0011c0017 a0012c0029 a0013c0024 a0015c0018 a0016c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(65): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0028 a0001c0001t0031 a0001c0001t0034 a0001c0001t0039 a0001c0001t0045 a0001c0001t0047 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0013 a0001c0002t0014 a0001c0002t0018 a0001c0002t0020 a0001c0002t0021 a0001c0002t0027 a0001c0002t0032 a0001c0002t0035 a0001c0002t0040 a0001c0002t0042 a0001c0002t0043 a0001c0004t0006 a0001c0004t0010 a0001c0004t0017 a0001c0004t0036 a0001c0004t0046 a0001c0006t0006 a0001c0006t0010 a0001c0013t0003 a0001c0013t0044 a0001c0019t0001 a0001c0020t0026 a0001c0021t0004 a0001c0022t0038 a0001c0025t0002 a0001c0026t0001 a0006c0011t0003 a0006c0011t0008 a0009c0012t0004 a0009c0012t0012 a0010c0016t0009 a0010c0016t0014 a0011c0017t0002 a0012c0029t0001 a0013c0024t0009 a0015c0018t0003 a0016c0028t0014	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 others(178): Show a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0190 a0001c0001t0001g0204 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0027 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0082 a0001c0001t0003g0118 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0142 a0001c0001t0003g0157 a0001c0001t0003g0168 a0001c0001t0003g0195 a0001c0001t0003g0209 a0001c0001t0003g0216 a0001c0001t0003g0219 a0001c0001t0004g0159 a0001c0001t0004g0171 a0001c0001t0004g0184 a0001c0001t0005g0017 a0001c0001t0005g0034 a0001c0001t0005g0051 a0001c0001t0007g0075 a0001c0001t0007g0077 a0001c0001t0008g0163 a0001c0001t0009g0063 a0001c0001t0009g0078 a0001c0001t0009g0080 a0001c0001t0011g0090 a0001c0001t0011g0183 a0001c0001t0012g0126 a0001c0001t0012g0130 a0001c0001t0013g0057 a0001c0001t0014g0016 a0001c0001t0015g0123 a0001c0001t0015g0191 a0001c0001t0016g0021 a0001c0001t0016g0074 a0001c0001t0019g0091 a0001c0001t0022g0001 a0001c0001t0024g0026 a0001c0001t0028g0083 a0001c0001t0031g0086 a0001c0001t0034g0153 a0001c0001t0039g0179 a0001c0001t0045g0224 a0001c0001t0047g0228 a0001c0002t0001g0097 a0001c0002t0001g0101 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0121 a0001c0002t0001g0135 a0001c0002t0001g0147 a0001c0002t0001g0151 a0001c0002t0001g0158 a0001c0002t0001g0188 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0203 a0001c0002t0001g0207 a0001c0002t0001g0210 a0001c0002t0001g0218 a0001c0002t0002g0006 a0001c0002t0002g0011 a0001c0002t0002g0024 a0001c0002t0002g0037 a0001c0002t0002g0039 a0001c0002t0002g0041 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0068 a0001c0002t0002g0079 a0001c0002t0003g0115 a0001c0002t0003g0132 a0001c0002t0003g0138 a0001c0002t0003g0146 a0001c0002t0003g0149 a0001c0002t0003g0150 a0001c0002t0003g0173 a0001c0002t0003g0197 a0001c0002t0003g0199 a0001c0002t0003g0211 a0001c0002t0004g0192 a0001c0002t0004g0198 a0001c0002t0005g0036 a0001c0002t0005g0042 a0001c0002t0005g0054 a0001c0002t0005g0059 a0001c0002t0007g0028 a0001c0002t0007g0038 a0001c0002t0008g0127 a0001c0002t0011g0181 a0001c0002t0011g0182 a0001c0002t0011g0223 a0001c0002t0013g0010 a0001c0002t0013g0035 a0001c0002t0013g0045 a0001c0002t0014g0014 a0001c0002t0018g0032 a0001c0002t0018g0033 a0001c0002t0020g0107 a0001c0002t0020g0169 a0001c0002t0021g0226 a0001c0002t0021g0229 a0001c0002t0027g0002 a0001c0002t0032g0087 a0001c0002t0035g0202 a0001c0002t0040g0214 a0001c0002t0042g0120 a0001c0002t0043g0104 a0001c0004t0006g0113 a0001c0004t0006g0133 a0001c0004t0006g0141 a0001c0004t0006g0212 a0001c0004t0010g0022 a0001c0004t0010g0023 a0001c0004t0010g0040 a0001c0004t0017g0031 a0001c0004t0017g0067 a0001c0004t0036g0114 a0001c0004t0046g0227 a0001c0006t0006g0099 a0001c0006t0006g0106 a0001c0006t0006g0112 a0001c0006t0010g0008 a0001c0006t0010g0013 a0001c0006t0010g0018 a0001c0013t0003g0139 a0001c0013t0044g0225 a0001c0019t0001g0143 a0001c0020t0026g0003 a0001c0021t0004g0222 a0001c0022t0038g0144 a0001c0025t0002g0052 a0001c0026t0001g0109 a0006c0011t0003g0092 a0006c0011t0003g0093 a0006c0011t0008g0129 a0009c0012t0004g0194 a0009c0012t0012g0187 a0010c0016t0009g0070 a0010c0016t0014g0072 a0011c0017t0002g0058 a0012c0029t0001g0164 a0013c0024t0009g0065 a0015c0018t0003g0161 a0016c0028t0014g0009	181	206	0.8786	-9	c.181 others(18): Show c.1812_1820delGCAGCAGCA	p.Gln others(13): Show p.Gln605_Gln607del	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/5	3120/7121	1812/3471	604/1156		chr11	TogoVar
MAML2_chr11_95971598_96348195	96092210	TTGCTGCT others(5): Show TTGCTGCTGCTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01109.hp2 HG01243.hp1 HG01891.hp2 others(6): Show HG01109.hp2 HG01243.hp1 HG01891.hp2 HG02723.hp1 HG02809.hp1 HG02970.hp1 HG03098.hp1 HG03516.hp2 NA21309.hp1	a0004 a0005 a0004 a0005	a0004c0007 a0005c0009 a0004c0007 a0005c0009	a0004c0007t0002 a0004c0007t0005 a0004c0007t0007 others(6): Show a0004c0007t0002 a0004c0007t0005 a0004c0007t0007 a0004c0007t0012 a0004c0007t0019 a0005c0009t0003 a0005c0009t0005 a0005c0009t0023 a0005c0009t0030	a0004c0007t0002g0064 a0004c0007t0005g0005 a0004c0007t0007g0071 others(6): Show a0004c0007t0002g0064 a0004c0007t0005g0005 a0004c0007t0007g0071 a0004c0007t0012g0088 a0004c0007t0019g0098 a0005c0009t0003g0178 a0005c0009t0005g0076 a0005c0009t0023g0048 a0005c0009t0030g0085	9	34	0.2647	-12	c.180 others(21): Show c.1809_1820delGCAGCAGCAGCA	p.Gln others(13): Show p.Gln604_Gln607del	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/5	3120/7121	1809/3471	603/1156		chr11	TogoVar
MAML3_chr4_139711753_140159184	139889909	TTGC TTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp1 HG02055.hp1 HG02132.hp1 others(18): Show HG00408.hp1 HG02055.hp1 HG02132.hp1 HG02145.hp2 HG02258.hp2 HG02486.hp2 HG02523.hp2 HG02723.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03209.hp2 HG03225.hp1 HG03579.hp1 NA18522.hp2 NA18966.hp1 NA18968.hp2 NA18991.hp1 NA19043.hp1 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0018 a0002c0003 a0002c0018	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(7): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 a0002c0003t0010 a0002c0003t0015 a0002c0003t0022 a0002c0003t0032 a0002c0003t0046 a0002c0018t0023	a0002c0003t0001g0070 a0002c0003t0001g0078 a0002c0003t0001g0086 others(18): Show a0002c0003t0001g0070 a0002c0003t0001g0078 a0002c0003t0001g0086 a0002c0003t0002g0012 a0002c0003t0002g0014 a0002c0003t0002g0071 a0002c0003t0002g0073 a0002c0003t0002g0096 a0002c0003t0002g0102 a0002c0003t0002g0107 a0002c0003t0003g0010 a0002c0003t0003g0030 a0002c0003t0003g0089 a0002c0003t0006g0137 a0002c0003t0010g0048 a0002c0003t0015g0005 a0002c0003t0022g0145 a0002c0003t0022g0151 a0002c0003t0032g0031 a0002c0003t0046g0150 a0002c0018t0023g0144	21	28	0.7500	-3	c.152 others(12): Show c.1524_1526delGCA	p.Gln others(6): Show p.Gln509del	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/5	2383/6844	1524/3417	508/1138		chr4	TogoVar
MAML3_chr4_139711753_140159184	139889909	TTGCTGC TTGCTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01070.hp1 HG01071.hp1 HG01981.hp2 others(11): Show HG01070.hp1 HG01071.hp1 HG01981.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02486.hp1 HG02630.hp1 HG02647.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03471.hp1	a0004 a0010 a0004 a0010	a0004c0005 a0010c0017 a0004c0005 a0010c0017	a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 others(8): Show a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 a0004c0005t0005 a0004c0005t0007 a0004c0005t0010 a0004c0005t0015 a0004c0005t0017 a0004c0005t0027 a0004c0005t0040 a0010c0017t0012	a0004c0005t0001g0043 a0004c0005t0001g0051 a0004c0005t0002g0052 others(11): Show a0004c0005t0001g0043 a0004c0005t0001g0051 a0004c0005t0002g0052 a0004c0005t0002g0101 a0004c0005t0003g0077 a0004c0005t0005g0087 a0004c0005t0005g0088 a0004c0005t0007g0028 a0004c0005t0010g0057 a0004c0005t0015g0008 a0004c0005t0017g0106 a0004c0005t0027g0004 a0004c0005t0040g0118 a0010c0017t0012g0085	14	21	0.6667	-6	c.152 others(15): Show c.1521_1526delGCAGCA	p.Gln others(13): Show p.Gln508_Gln509del	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/5	2383/6844	1521/3417	507/1138		chr4	TogoVar
MAML3_chr4_139711753_140159184	139889909	TTGCTGCT others(2): Show TTGCTGCTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01243.hp2 HG02630.hp2 HG02809.hp1 others(5): Show HG01243.hp2 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02965.hp1 HG03098.hp2 HG03486.hp1 HG06807.hp1	a0006 a0006	a0006c0007 a0006c0014 a0006c0007 a0006c0014	a0006c0007t0006 a0006c0007t0013 a0006c0007t0014 others(5): Show a0006c0007t0006 a0006c0007t0013 a0006c0007t0014 a0006c0007t0017 a0006c0007t0034 a0006c0007t0047 a0006c0014t0001 a0006c0014t0013	a0006c0007t0006g0122 a0006c0007t0013g0146 a0006c0007t0014g0139 others(5): Show a0006c0007t0006g0122 a0006c0007t0013g0146 a0006c0007t0014g0139 a0006c0007t0017g0011 a0006c0007t0034g0084 a0006c0007t0047g0152 a0006c0014t0001g0017 a0006c0014t0013g0138	8	15	0.5333	-9	c.151 others(18): Show c.1518_1526delGCAGCAGCA	p.Gln others(13): Show p.Gln507_Gln509del	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/5	2383/6844	1518/3417	506/1138		chr4	TogoVar
MAML3_chr4_139711753_140159184	139889909	TTGCTGCT others(5): Show TTGCTGCTGCTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(90): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01981.hp1 HG02055.hp2 HG02132.hp2 HG02135.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18968.hp1 NA18991.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0012 others(1): Show a0001 a0003 a0012 a0013	a0001c0001 a0001c0002 a0001c0004 others(13): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0001c0011 a0001c0015 a0001c0023 a0001c0027 a0003c0006 a0003c0012 a0003c0020 a0003c0021 a0003c0022 a0003c0024 a0012c0026 a0013c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0039 a0001c0001t0042 a0001c0001t0045 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0014 a0001c0002t0016 a0001c0002t0026 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0006 a0001c0004t0019 a0001c0004t0024 a0001c0010t0001 a0001c0010t0002 a0001c0010t0011 a0001c0010t0013 a0001c0011t0001 a0001c0011t0002 a0001c0011t0005 a0001c0015t0001 a0001c0023t0002 a0001c0027t0001 a0003c0006t0004 a0003c0006t0008 a0003c0006t0043 a0003c0012t0004 a0003c0012t0008 a0003c0020t0035 a0003c0021t0012 a0003c0022t0004 a0003c0024t0038 a0012c0026t0041 a0013c0025t0003	a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0042 others(90): Show a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0002g0032 a0001c0001t0002g0090 a0001c0001t0003g0036 a0001c0001t0006g0129 a0001c0001t0007g0076 a0001c0001t0007g0091 a0001c0001t0009g0121 a0001c0001t0009g0132 a0001c0001t0018g0111 a0001c0001t0018g0114 a0001c0001t0019g0115 a0001c0001t0020g0120 a0001c0001t0020g0126 a0001c0001t0021g0134 a0001c0001t0021g0135 a0001c0001t0028g0046 a0001c0001t0030g0061 a0001c0001t0031g0083 a0001c0001t0033g0019 a0001c0001t0039g0116 a0001c0001t0042g0119 a0001c0001t0045g0147 a0001c0002t0001g0066 a0001c0002t0001g0074 a0001c0002t0001g0098 a0001c0002t0002g0024 a0001c0002t0002g0065 a0001c0002t0002g0093 a0001c0002t0003g0034 a0001c0002t0003g0104 a0001c0002t0005g0039 a0001c0002t0005g0100 a0001c0002t0006g0123 a0001c0002t0007g0080 a0001c0002t0009g0136 a0001c0002t0010g0097 a0001c0002t0011g0022 a0001c0002t0011g0049 a0001c0002t0014g0149 a0001c0002t0016g0006 a0001c0002t0016g0007 a0001c0002t0026g0002 a0001c0004t0001g0018 a0001c0004t0001g0021 a0001c0004t0001g0023 a0001c0004t0001g0040 a0001c0004t0001g0041 a0001c0004t0001g0067 a0001c0004t0001g0108 a0001c0004t0002g0025 a0001c0004t0002g0026 a0001c0004t0002g0033 a0001c0004t0002g0045 a0001c0004t0002g0047 a0001c0004t0002g0063 a0001c0004t0002g0072 a0001c0004t0002g0081 a0001c0004t0003g0069 a0001c0004t0006g0133 a0001c0004t0019g0112 a0001c0004t0024g0001 a0001c0010t0001g0044 a0001c0010t0002g0092 a0001c0010t0011g0054 a0001c0010t0013g0142 a0001c0011t0001g0099 a0001c0011t0002g0013 a0001c0011t0005g0059 a0001c0015t0001g0037 a0001c0023t0002g0079 a0001c0027t0001g0050 a0003c0006t0004g0055 a0003c0006t0004g0064 a0003c0006t0004g0082 a0003c0006t0008g0124 a0003c0006t0008g0127 a0003c0006t0008g0131 a0003c0006t0043g0148 a0003c0012t0004g0016 a0003c0012t0008g0130 a0003c0020t0035g0029 a0003c0021t0012g0075 a0003c0022t0004g0105 a0003c0024t0038g0113 a0012c0026t0041g0125 a0013c0025t0003g0060	93	100	0.9300	-12	c.151 others(21): Show c.1515_1526delGCAGCAGCAGCA	p.Gln others(13): Show p.Gln506_Gln509del	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/5	2383/6844	1515/3417	505/1138		chr4	TogoVar
MAML3_chr4_139711753_140159184	139889909	TTGCTGCT others(8): Show TTGCTGCTGCTGCTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02258.hp1 HG02258.hp1	a0009 a0009	a0009c0028 a0009c0028	a0009c0028t0001 a0009c0028t0001	a0009c0028t0001g0056 a0009c0028t0001g0056	1	8	0.1250	-15	c.151 others(24): Show c.1512_1526delGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln505_Gln509del	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/5	2383/6844	1512/3417	504/1138		chr4	TogoVar
MAML3_chr4_139711753_140159184	139889909	TTGCTGCT others(14): Show TTGCTGCTGCTGCTGCTGCTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00735.hp2 HG01891.hp1 HG02976.hp2 others(1): Show HG00735.hp2 HG01891.hp1 HG02976.hp2 HG03225.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0014 a0007c0009t0023 a0007c0009t0036 others(1): Show a0007c0009t0014 a0007c0009t0023 a0007c0009t0036 a0007c0009t0044	a0007c0009t0014g0143 a0007c0009t0023g0140 a0007c0009t0036g0110 others(1): Show a0007c0009t0014g0143 a0007c0009t0023g0140 a0007c0009t0036g0110 a0007c0009t0044g0141	4	11	0.3636	-21	c.150 others(30): Show c.1506_1526delGCAGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln503_Gln509del	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/5	2383/6844	1506/3417	502/1138		chr4	TogoVar
MAML3_chr4_139711753_140159184	139889909	TTGCTGCT others(26): Show TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03209.hp1 HG03209.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0002 a0011c0016t0002	a0011c0016t0002g0009 a0011c0016t0002g0009	1	8	0.1250	-33	c.149 others(42): Show c.1494_1526delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln499_Gln509del	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	2/5	2383/6844	1494/3417	498/1138		chr4	TogoVar
MAN2A1_chr5_109684927_109874625	109855234	TCTC TCTC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00438.hp2 HG00597.hp2 others(78): Show HG00099.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG01123.hp1 HG01361.hp2 HG01433.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02735.hp1 HG02738.hp2 HG02970.hp2 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp1 NA18952.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp1 NA19009.hp2 NA19011.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp2 NA19060.hp2 NA19072.hp2 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA19089.hp1 NA20752.hp1 NA20905.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0002c0017 a0002c0019 others(1): Show a0002c0002 a0002c0017 a0002c0019 a0007c0014	a0002c0002t0002 a0002c0002t0009 a0002c0002t0011 others(10): Show a0002c0002t0002 a0002c0002t0009 a0002c0002t0011 a0002c0002t0017 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0027 a0002c0002t0034 a0002c0017t0002 a0002c0019t0002 a0007c0014t0002	a0002c0002t0002g0006 a0002c0002t0002g0178 a0002c0002t0002g0189 others(77): Show a0002c0002t0002g0006 a0002c0002t0002g0178 a0002c0002t0002g0189 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0212 a0002c0002t0002g0216 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0232 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0269 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0277 a0002c0002t0002g0280 a0002c0002t0002g0283 a0002c0002t0002g0284 a0002c0002t0002g0289 a0002c0002t0009g0007 a0002c0002t0009g0200 a0002c0002t0009g0215 a0002c0002t0009g0217 a0002c0002t0009g0270 a0002c0002t0011g0179 a0002c0002t0011g0181 a0002c0002t0011g0261 a0002c0002t0011g0268 a0002c0002t0017g0275 a0002c0002t0017g0276 a0002c0002t0023g0223 a0002c0002t0024g0233 a0002c0002t0025g0263 a0002c0002t0026g0231 a0002c0002t0027g0234 a0002c0002t0034g0218 a0002c0017t0002g0101 a0002c0019t0002g0250 a0007c0014t0002g0193	81	294	0.2755	-3	c.307 others(12): Show c.3075_3077delCTC	p.Ser others(7): Show p.Ser1026del	MAN2A1	ENSG00000112893.10	transcript	ENST00000261483.5	protein_coding	20/22	3566/6553	3075/3435	1025/1144	INFO_REALIGN_3_PRIME	chr5	TogoVar

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