Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
KRTAP5-7_chr11_71522267_71533669	71527466	AGCTGTGG others(23): Show AGCTGTGGCTCCTGTGGGGGCTCCAAGGGAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01346.hp2 HG01496.hp2 HG03927.hp1 HG01346.hp2 HG01496.hp2 HG03927.hp1	a0007 a0009 a0007 a0009	a0007c0007 a0009c0010 a0007c0007 a0009c0010	a0007c0007t0001 a0009c0010t0001 a0007c0007t0001 a0009c0010t0001	a0007c0007t0001g0000 a0009c0010t0001g0000 a0007c0007t0001g0000 a0009c0010t0001g0000	3	460	0.0065	-30	c.195 others(37): Show c.195_224delAGGCTGTGGCTCCTGTGGGGGCTCCAAGGG	p.Gly others(11): Show p.Gly66_Gly75del	KRTAP5-7	ENSG00000244411.4	transcript	ENST00000398536.6	protein_coding	1/1	229/1403	195/498	65/165	INFO_REALIGN_3_PRIME	chr11	TogoVar
KRTAP5-9_chr11_71543420_71554608	71548924	TTCAGGCT others(137): Show TTCAGGCTGTGGGTCATCCTGCTGCCAGTGCAGCTGCTGCAAGCCCTACT GCTCCCAGTGCAGCTGCTGTAAGCCCTGTTGCTCCTCCTCGGGTCGTGGG TCATCCTGCTGCCAATCCAGCTGCTGCAAGCCCTGCTGCTCATCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp1 HG02258.hp1 HG03130.hp1 others(2): Show HG01891.hp1 HG02258.hp1 HG03130.hp1 HG03225.hp2 HG03579.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0000 a0005c0005t0005g0000	5	422	0.0119	-144	c.296 others(7): Show c.296_439del	p.Cys others(12): Show p.Cys99_Gln146del	KRTAP5-9	ENSG00000254997.4	transcript	ENST00000528743.4	protein_coding	1/1	534/1189	296/510	99/169	INFO_REALIGN_3_PRIME	chr11	TogoVar
KRTAP6-1_chr21_30608431_30618930	30613810	CAGCCCAG others(14): Show CAGCCCAGGCCTCCATAGCCAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03710.hp1 HG03710.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0000 a0005c0006t0001g0000	1	380	0.0026	-21	c.74_ others(26): Show c.74_94delATGGCTATGGAGGCCTGGGCT	p.Tyr others(11): Show p.Tyr25_Gly31del	KRTAP6-1	ENSG00000184724.5	transcript	ENST00000329122.2	protein_coding	1/1	120/500	74/216	25/71		chr21	TogoVar
KRTAP6-3_chr21_30587440_30598075	30592591	TTGGCTAT others(14): Show TTGGCTATGGAGGCCTGGACTG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18959.hp1 NA18959.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0000 a0008c0009t0001g0000	1	434	0.0023	-21	c.164 others(28): Show c.164_184delACTGTGGCTATGGAGGCCTGG	p.Asp others(11): Show p.Asp55_Leu61del	KRTAP6-3	ENSG00000212938.3	transcript	ENST00000391624.1	protein_coding	1/1	170/636	164/333	55/110	INFO_REALIGN_3_PRIME	chr21	TogoVar
KRTAP9-1_chr17_41184887_41195639	41190152	CCTGCTGT others(8): Show CCTGCTGTGGGTCCAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18942.hp1 NA18944.hp2 NA18942.hp1 NA18944.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0000 a0005c0005t0000	a0005c0005t0000g0000 a0005c0005t0000g0000	2	460	0.0044	-15	c.276 others(22): Show c.276_290delGTCCAGCTGCTGTGG	p.Ser others(11): Show p.Ser93_Gly97del	KRTAP9-1	ENSG00000240542.6	transcript	ENST00000398470.1	protein_coding	1/1	276/753	276/753	92/250	INFO_REALIGN_3_PRIME	chr17	TogoVar
KRTAP9-2_chr17_41221648_41232652	41226922	TGCTGTGG others(23): Show TGCTGTGGGTCCAGCTGCTGTGGCCAAACCA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00558.hp2 NA18950.hp2 NA18951.hp2 others(7): Show HG00558.hp2 NA18950.hp2 NA18951.hp2 NA18957.hp2 NA19000.hp1 NA19058.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19081.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0000 a0003c0005t0001g0000	10	437	0.0229	-30	c.285 others(37): Show c.285_314delCTGTGGCCAAACCAGCTGTGGGTCCAGCTG	p.Cys others(12): Show p.Cys96_Cys105del	KRTAP9-2	ENSG00000239886.5	transcript	ENST00000377721.3	protein_coding	1/1	292/1005	285/525	95/174	INFO_REALIGN_3_PRIME	chr17	TogoVar
KRTAP9-2_chr17_41221648_41232652	41227070	ACTGCTGC others(5): Show ACTGCTGCCAGCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00642.hp1 HG01099.hp1 HG01256.hp2 others(3): Show HG00642.hp1 HG01099.hp1 HG01256.hp2 HG01496.hp2 HG01952.hp2 NA20805.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0000 a0004c0006t0001g0000	6	437	0.0137	-12	c.425 others(19): Show c.425_436delAGCCCTGCTGCC	p.Gln others(13): Show p.Gln142_Cys145del	KRTAP9-2	ENSG00000239886.5	transcript	ENST00000377721.3	protein_coding	1/1	432/1005	425/525	142/174	INFO_REALIGN_3_PRIME	chr17	TogoVar
KRTAP9-8_chr17_41232999_41244004	41238458	AGACCACC others(8): Show AGACCACCTGCTGCAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp1 HG00408.hp1 HG00423.hp1 others(75): Show HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00621.hp1 HG00673.hp2 HG00741.hp2 HG01106.hp2 HG01175.hp2 HG01261.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG03195.hp1 HG03492.hp2 HG03710.hp2 HG03831.hp1 HG04199.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18966.hp2 NA18976.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA19000.hp1 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA20752.hp1 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	78	435	0.1793	-15	c.414 others(22): Show c.414_428delCTGCTGCAGGACCAC	p.Cys others(13): Show p.Cys139_Thr143del	KRTAP9-8	ENSG00000187272.7	transcript	ENST00000254072.7	protein_coding	1/1	467/1006	414/480	138/159	INFO_REALIGN_3_PRIME	chr17	TogoVar
L1TD1_chr1_62189849_62217328	62209972	ACCTCAGG others(23): Show ACCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp1 HG01109.hp1 HG01243.hp2 others(12): Show HG00323.hp1 HG01109.hp1 HG01243.hp2 HG01515.hp2 HG01517.hp2 HG02257.hp2 HG02572.hp2 HG02723.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp1 HG03490.hp1 HG04115.hp2 HG04204.hp1 NA20129.hp2	a0009 a0010 a0017 others(1): Show a0009 a0010 a0017 a0019	a0009c0012 a0009c0029 a0010c0011 others(2): Show a0009c0012 a0009c0029 a0010c0011 a0017c0021 a0019c0019	a0009c0012t0013 a0009c0012t0017 a0009c0029t0013 others(4): Show a0009c0012t0013 a0009c0012t0017 a0009c0029t0013 a0010c0011t0011 a0010c0011t0026 a0017c0021t0011 a0019c0019t0001	a0009c0012t0013g0045 a0009c0012t0013g0046 a0009c0012t0013g0047 others(11): Show a0009c0012t0013g0045 a0009c0012t0013g0046 a0009c0012t0013g0047 a0009c0012t0013g0048 a0009c0012t0017g0034 a0009c0012t0017g0035 a0009c0029t0013g0044 a0010c0011t0011g0006 a0010c0011t0011g0354 a0010c0011t0011g0355 a0010c0011t0011g0356 a0010c0011t0026g0006 a0017c0021t0011g0357 a0019c0019t0001g0036	15	414	0.0362	-30	c.121 others(39): Show c.1218_1247delGGAGGAAGAGCCCTCAGGGCTGGAGGAGGA	p.Glu others(13): Show p.Glu407_Glu416del	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding	4/4	1495/3831	1218/2598	406/865	INFO_REALIGN_3_PRIME	chr1	TogoVar
LACTBL1_chr1_22948043_22977866	22953362	TAGA TAGA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02895.hp2 HG02897.hp1 HG03579.hp2 HG02895.hp2 HG02897.hp1 HG03579.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0254 a0008c0008t0001g0279 a0008c0008t0001g0280 a0008c0008t0001g0254 a0008c0008t0001g0279 a0008c0008t0001g0280	3	450	0.0067	-3	c.141 others(12): Show c.1418_1420delTCT	p.Phe others(6): Show p.Phe473del	LACTBL1	ENSG00000215906.9	transcript	ENST00000426928.7	protein_coding	8/8	1630/1950	1418/1740	473/579		chr1	TogoVar
LAD1_chr1_201375833_201404324	201386873	CCCA CCCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(61): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG01070.hp1 HG01106.hp2 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG02015.hp2 HG02055.hp1 HG02135.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02622.hp1 HG02698.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03098.hp1 HG03130.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03704.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp1 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18952.hp1 NA18962.hp2 NA18968.hp1 NA18971.hp2 NA18973.hp2 NA18977.hp1 NA18979.hp2 NA18984.hp1 NA18985.hp1 NA18989.hp2 NA19001.hp2 NA19004.hp2 NA19006.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19074.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0003 a0006 a0010 others(3): Show a0003 a0006 a0010 a0012 a0013 a0022	a0003c0003 a0003c0025 a0006c0006 others(4): Show a0003c0003 a0003c0025 a0006c0006 a0010c0011 a0012c0014 a0013c0021 a0022c0026	a0003c0003t0001 a0003c0003t0007 a0003c0025t0001 others(5): Show a0003c0003t0001 a0003c0003t0007 a0003c0025t0001 a0006c0006t0001 a0010c0011t0001 a0012c0014t0001 a0013c0021t0001 a0022c0026t0005	a0003c0003t0001g0008 a0003c0003t0001g0014 a0003c0003t0001g0033 others(26): Show a0003c0003t0001g0008 a0003c0003t0001g0014 a0003c0003t0001g0033 a0003c0003t0001g0039 a0003c0003t0001g0040 a0003c0003t0001g0041 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0122 a0003c0003t0001g0123 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0007g0029 a0003c0003t0007g0056 a0003c0025t0001g0201 a0006c0006t0001g0002 a0006c0006t0001g0048 a0006c0006t0001g0172 a0006c0006t0001g0173 a0006c0006t0001g0181 a0006c0006t0001g0199 a0006c0006t0001g0202 a0010c0011t0001g0023 a0012c0014t0001g0038 a0013c0021t0001g0117 a0022c0026t0005g0121	64	432	0.1482	-3	c.485 others(10): Show c.485_487delTGG	p.Val others(6): Show p.Val162del	LAD1	ENSG00000159166.15	transcript	ENST00000391967.7	protein_coding	3/10	505/2627	485/1554	162/517		chr1	TogoVar
LAMA5_chr20_62304065_62372312	62367030	GCCGCGCG others(2): Show GCCGCGCGCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01074.hp2 HG02055.hp2 HG02451.hp2 others(5): Show HG01074.hp2 HG02055.hp2 HG02451.hp2 HG02615.hp2 HG02717.hp1 HG02809.hp2 HG02922.hp1 HG03471.hp1	a0011 a0027 a0092 others(2): Show a0011 a0027 a0092 a0093 a0094	a0011c0013 a0011c0028 a0027c0026 others(4): Show a0011c0013 a0011c0028 a0027c0026 a0027c0027 a0092c0023 a0093c0024 a0094c0025	a0011c0013t0001 a0011c0028t0001 a0027c0026t0001 others(4): Show a0011c0013t0001 a0011c0028t0001 a0027c0026t0001 a0027c0027t0001 a0092c0023t0001 a0093c0024t0001 a0094c0025t0001	a0011c0013t0001g0005 a0011c0013t0001g0006 a0011c0028t0001g0004 others(5): Show a0011c0013t0001g0005 a0011c0013t0001g0006 a0011c0028t0001g0004 a0027c0026t0001g0003 a0027c0027t0001g0002 a0092c0023t0001g0009 a0093c0024t0001g0007 a0094c0025t0001g0008	8	186	0.0430	-9	c.207 others(16): Show c.207_215delGGCGCGCGG	p.Ala others(11): Show p.Ala70_Gly72del	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	1/80	282/11426	207/11088	69/3695		chr20	TogoVar
LCE1B_chr1_152806971_152818108	152812597	TGCTGTGG others(17): Show TGCTGTGGCTCCAGCTCTGGGGGAA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0000 a0004c0007t0001g0000	1	440	0.0023	-24	c.174 others(31): Show c.174_197delAAGCTGTGGCTCCAGCTCTGGGGG	p.Ser others(11): Show p.Ser59_Gly66del	LCE1B	ENSG00000196734.9	transcript	ENST00000360090.4	protein_coding	1/1	650/1138	174/357	58/118	INFO_REALIGN_3_PRIME	chr1	TogoVar
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	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0038 a0004c0006t0001g0038	1	382	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 a0013 a0020 a0002 a0013 a0020	a0002c0002 a0002c0026 a0013c0013 others(1): Show a0002c0002 a0002c0026 a0013c0013 a0020c0023	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 others(13): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0012 a0002c0002t0014 a0002c0002t0020 a0002c0002t0021 a0002c0002t0033 a0002c0002t0034 a0002c0002t0035 a0002c0002t0037 a0002c0002t0038 a0002c0002t0039 a0002c0026t0005 a0013c0013t0002 a0020c0023t0002	a0002c0002t0001g0085 a0002c0002t0002g0004 a0002c0002t0002g0006 others(78): Show a0002c0002t0001g0085 a0002c0002t0002g0004 a0002c0002t0002g0006 a0002c0002t0002g0009 a0002c0002t0002g0019 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0141 a0002c0002t0002g0165 a0002c0002t0005g0111 a0002c0002t0005g0112 a0002c0002t0005g0113 a0002c0002t0005g0116 a0002c0002t0005g0117 a0002c0002t0005g0118 a0002c0002t0005g0209 a0002c0002t0005g0210 a0002c0002t0012g0035 a0002c0002t0012g0051 a0002c0002t0012g0058 a0002c0002t0014g0211 a0002c0002t0014g0212 a0002c0002t0014g0213 a0002c0002t0020g0275 a0002c0002t0020g0276 a0002c0002t0021g0008 a0002c0002t0033g0070 a0002c0002t0034g0015 a0002c0002t0035g0040 a0002c0002t0037g0052 a0002c0002t0038g0013 a0002c0002t0039g0057 a0002c0026t0005g0115 a0013c0013t0002g0073 a0013c0013t0002g0074 a0020c0023t0002g0005	81	292	0.2774	-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	a0037 a0037	a0037c0031 a0037c0031	a0037c0031t0001 a0037c0031t0001	a0037c0031t0001g0032 a0037c0031t0001g0032	1	434	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 a0010 a0011 others(4): Show a0003 a0010 a0011 a0020 a0029 a0030 a0031	a0003c0003 a0003c0043 a0010c0009 others(5): Show a0003c0003 a0003c0043 a0010c0009 a0011c0012 a0020c0022 a0029c0039 a0030c0038 a0031c0037	a0003c0003t0001 a0003c0043t0001 a0010c0009t0001 others(5): Show a0003c0003t0001 a0003c0043t0001 a0010c0009t0001 a0011c0012t0001 a0020c0022t0001 a0029c0039t0001 a0030c0038t0001 a0031c0037t0001	a0003c0003t0001g0003 a0003c0003t0001g0037 a0003c0003t0001g0039 others(8): Show a0003c0003t0001g0003 a0003c0003t0001g0037 a0003c0003t0001g0039 a0003c0003t0001g0040 a0003c0043t0001g0003 a0010c0009t0001g0003 a0011c0012t0001g0003 a0020c0022t0001g0003 a0029c0039t0001g0003 a0030c0038t0001g0003 a0031c0037t0001g0003	71	434	0.1636	-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	a0024 a0041 a0024 a0041	a0024c0028 a0041c0023 a0024c0028 a0041c0023	a0024c0028t0001 a0041c0023t0001 a0024c0028t0001 a0041c0023t0001	a0024c0028t0001g0002 a0041c0023t0001g0002 a0024c0028t0001g0002 a0041c0023t0001g0002	2	434	0.0046	-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	426	0.0235	-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	a0008c0017 a0008c0017	a0008c0017t0007 a0008c0017t0007	a0008c0017t0007g0000 a0008c0017t0007g0000	1	426	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 a0007c0007t0023 a0007c0007t0001 a0007c0007t0023	a0007c0007t0001g0000 a0007c0007t0023g0000 a0007c0007t0001g0000 a0007c0007t0023g0000	5	426	0.0117	-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 a0007c0007t0023 a0007c0007t0001 a0007c0007t0023	a0007c0007t0001g0000 a0007c0007t0023g0000 a0007c0007t0001g0000 a0007c0007t0023g0000	5	426	0.0117	-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	442	0.0045	-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	442	0.0249	-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	442	0.0317	-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	462	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	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0001 a0008c0017t0001g0001	1	422	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	a0007 a0016 a0046 others(2): Show a0007 a0016 a0046 a0047 a0051	a0007c0007 a0016c0021 a0046c0066 others(2): Show a0007c0007 a0016c0021 a0046c0066 a0047c0067 a0051c0045	a0007c0007t0001 a0007c0007t0002 a0016c0021t0001 others(3): Show a0007c0007t0001 a0007c0007t0002 a0016c0021t0001 a0046c0066t0001 a0047c0067t0001 a0051c0045t0001	a0007c0007t0001g0099 a0007c0007t0001g0228 a0007c0007t0002g0024 others(7): Show a0007c0007t0001g0099 a0007c0007t0001g0228 a0007c0007t0002g0024 a0007c0007t0002g0025 a0007c0007t0002g0029 a0016c0021t0001g0153 a0016c0021t0001g0171 a0046c0066t0001g0177 a0047c0067t0001g0198 a0051c0045t0001g0150	10	270	0.0370	-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	278	0.0180	-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	a0006 a0006	a0006c0010 a0006c0014 a0006c0010 a0006c0014	a0006c0010t0020 a0006c0014t0004 a0006c0010t0020 a0006c0014t0004	a0006c0010t0020g0010 a0006c0010t0020g0011 a0006c0014t0004g0027 a0006c0010t0020g0010 a0006c0010t0020g0011 a0006c0014t0004g0027	3	296	0.0101	-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	a0002c0003t0001g0016 a0002c0003t0001g0058 a0002c0003t0001g0059 others(1): Show a0002c0003t0001g0016 a0002c0003t0001g0058 a0002c0003t0001g0059 a0002c0003t0001g0198	5	288	0.0174	-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 a0005 a0002 a0005	a0002c0002 a0002c0008 a0005c0009 a0002c0002 a0002c0008 a0005c0009	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(6): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0010 a0002c0002t0011 a0002c0002t0016 a0002c0002t0022 a0002c0008t0001 a0005c0009t0001	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 a0005c0009t0001g0030	87	262	0.3321	-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	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0002 a0010c0012t0002	a0010c0012t0002g0051 a0010c0012t0002g0051	1	336	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	a0013c0012t0001g0045 a0013c0012t0001g0045	1	402	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	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0149 a0008c0009t0001g0149	1	374	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	430	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(410): 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 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0006 a0007 a0008 a0010	a0001c0001 a0001c0008 a0003c0002 others(5): Show a0001c0001 a0001c0008 a0003c0002 a0005c0009 a0006c0007 a0007c0011 a0008c0010 a0010c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0008t0004 a0003c0002t0007 a0003c0002t0019 a0003c0002t0031 a0005c0009t0001 a0006c0007t0001 a0007c0011t0024 a0008c0010t0010 a0010c0012t0005	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(41): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0008g0000 a0001c0001t0009g0000 a0001c0001t0010g0000 a0001c0001t0011g0000 a0001c0001t0013g0000 a0001c0001t0014g0000 a0001c0001t0015g0000 a0001c0001t0016g0000 a0001c0001t0017g0000 a0001c0001t0018g0000 a0001c0001t0020g0000 a0001c0001t0021g0000 a0001c0001t0022g0000 a0001c0001t0023g0000 a0001c0001t0025g0000 a0001c0001t0026g0000 a0001c0001t0027g0000 a0001c0001t0028g0000 a0001c0001t0029g0000 a0001c0001t0034g0000 a0001c0001t0035g0000 a0001c0001t0036g0000 a0001c0001t0037g0000 a0001c0001t0038g0000 a0001c0001t0039g0000 a0001c0001t0040g0000 a0001c0001t0041g0000 a0001c0001t0042g0000 a0001c0001t0043g0000 a0001c0001t0044g0000 a0001c0008t0004g0000 a0003c0002t0007g0000 a0003c0002t0019g0000 a0003c0002t0031g0000 a0005c0009t0001g0000 a0006c0007t0001g0000 a0007c0011t0024g0000 a0008c0010t0010g0000 a0010c0012t0005g0000	413	446	0.9260	-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	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0003 a0004c0004t0002 a0004c0004t0003	a0004c0004t0002g0000 a0004c0004t0003g0000 a0004c0004t0002g0000 a0004c0004t0003g0000	9	446	0.0202	-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	468	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
MAGEA1_chrX_153174284_153188880	153182846	CTGGTCT CTGGTCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19055.hp1 NA19055.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0022 a0005c0005t0007g0022	1	343	0.0029	-6	c.459 others(13): Show c.459_464delGGTCTT	p.Val others(13): Show p.Val154_Phe155del	MAGEA1	ENSG00000198681.7	transcript	ENST00000356661.7	protein_coding	3/3	679/1711	459/930	153/309	INFO_REALIGN_3_PRIME	chrX	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 a0005 a0006 a0003 a0005 a0006	a0003c0007 a0003c0018 a0005c0008 others(1): Show a0003c0007 a0003c0018 a0005c0008 a0006c0010	a0003c0007t0002 a0003c0018t0002 a0005c0008t0002 others(1): Show a0003c0007t0002 a0003c0018t0002 a0005c0008t0002 a0006c0010t0002	a0003c0007t0002g0015 a0003c0007t0002g0033 a0003c0007t0002g0037 others(5): Show a0003c0007t0002g0015 a0003c0007t0002g0033 a0003c0007t0002g0037 a0003c0018t0002g0034 a0005c0008t0002g0028 a0005c0008t0002g0030 a0005c0008t0002g0031 a0006c0010t0002g0032	9	344	0.0262	-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
MAGEB18_chrX_26133343_26145736	26139281	CTGAGGG CTGAGGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18906.hp2 NA18906.hp2	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0002 a0007c0004t0002	a0007c0004t0002g0001 a0007c0004t0002g0001	1	326	0.0031	-6	c.297 others(13): Show c.297_302delTGAGGG	p.Glu others(13): Show p.Glu100_Gly101del	MAGEB18	ENSG00000176774.6	transcript	ENST00000325250.2	protein_coding	2/3	484/1812	297/1032	99/343		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 a0009 a0002 a0009	a0002c0002 a0009c0013 a0002c0002 a0009c0013	a0002c0002t0001 a0009c0013t0001 a0002c0002t0001 a0009c0013t0001	a0002c0002t0001g0001 a0002c0002t0001g0012 a0002c0002t0001g0017 others(1): Show a0002c0002t0001g0001 a0002c0002t0001g0012 a0002c0002t0001g0017 a0009c0013t0001g0001	35	320	0.1094	-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	a0075 a0075	a0075c0183 a0075c0183	a0075c0183t0001 a0075c0183t0001	a0075c0183t0001g0002 a0075c0183t0001g0002	1	359	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	a0022 a0056 a0072 others(1): Show a0022 a0056 a0072 a0166	a0022c0013 a0056c0034 a0072c0078 others(1): Show a0022c0013 a0056c0034 a0072c0078 a0166c0098	a0022c0013t0001 a0056c0034t0001 a0072c0078t0005 others(1): Show a0022c0013t0001 a0056c0034t0001 a0072c0078t0005 a0166c0098t0002	a0022c0013t0001g0001 a0056c0034t0001g0001 a0072c0078t0005g0003 others(1): Show a0022c0013t0001g0001 a0056c0034t0001g0001 a0072c0078t0005g0003 a0166c0098t0002g0006	8	359	0.0223	-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	a0151 a0151	a0151c0175 a0151c0175	a0151c0175t0001 a0151c0175t0001	a0151c0175t0001g0002 a0151c0175t0001g0002	1	359	0.0028	-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	a0043 a0131 a0043 a0131	a0043c0049 a0131c0166 a0043c0049 a0131c0166	a0043c0049t0001 a0131c0166t0001 a0043c0049t0001 a0131c0166t0001	a0043c0049t0001g0001 a0131c0166t0001g0001 a0043c0049t0001g0001 a0131c0166t0001g0001	3	359	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
MAGEC2_chrX_142197342_142210290	142202899	ACTG ACTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02523.hp2 HG02523.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0012 a0005c0005t0012	a0005c0005t0012g0024 a0005c0005t0012g0024	1	331	0.0030	-3	c.108 others(12): Show c.1086_1088delCAG	p.Ser others(6): Show p.Ser363del	MAGEC2	ENSG00000046774.10	transcript	ENST00000247452.4	protein_coding	3/3	1436/1994	1086/1122	362/373		chrX	TogoVar
MAGEC2_chrX_142197342_142210290	142202905	GCTT GCTT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02523.hp2 HG02523.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0012 a0005c0005t0012	a0005c0005t0012g0024 a0005c0005t0012g0024	1	331	0.0030	-3	c.108 others(12): Show c.1080_1082delAAG	p.Glu others(19): Show p.Glu360_Ser361delinsAsp	MAGEC2	ENSG00000046774.10	transcript	ENST00000247452.4	protein_coding	3/3	1430/1994	1080/1122	360/373		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	a0025 a0025	a0025c0026 a0025c0026	a0025c0026t0001 a0025c0026t0001	a0025c0026t0001g0000 a0025c0026t0001g0000	1	436	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

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