Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
DMRTB1_chr1_53454399_53472488	53464677	TGCCGCC TGCCGCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp1 NA18954.hp2 NA19064.hp1 HG00438.hp1 NA18954.hp2 NA19064.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0001 a0003c0004t0001g0001	3	394	0.0076	-6	c.804 others(13): Show c.804_809delGCCGCC	p.Pro others(13): Show p.Pro269_Pro270del	DMRTB1	ENSG00000143006.7	transcript	ENST00000371445.3	protein_coding	3/4	859/1910	804/1029	268/342	INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH6_chr2_84511498_84824589	84552939	CAAG CAAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00735.hp1 NA20129.hp2 HG00735.hp1 NA20129.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0083 a0010c0016t0001g0084 a0010c0016t0001g0083 a0010c0016t0001g0084	2	116	0.0172	-3	c.151 others(12): Show c.1515_1517delAGA	p.Glu others(6): Show p.Glu505del	DNAH6	ENSG00000115423.19	transcript	ENST00000389394.8	protein_coding	10/77	1609/12752	1515/12477	505/4158	INFO_REALIGN_3_PRIME	chr2	TogoVar
DOP1A_chr6_83062671_83173471	83142027	AAAC AAAC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp2 HG02615.hp2 HG02895.hp2 others(1): Show HG01891.hp2 HG02615.hp2 HG02895.hp2 HG03041.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0039 a0005c0005t0001g0040 a0005c0005t0001g0041 others(1): Show a0005c0005t0001g0039 a0005c0005t0001g0040 a0005c0005t0001g0041 a0005c0005t0001g0042	4	298	0.0134	-3	c.552 others(12): Show c.5526_5528delAAC	p.Thr others(7): Show p.Thr1843del	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/39	5781/7957	5526/7398	1842/2465	INFO_REALIGN_3_PRIME	chr6	TogoVar
DRD4_chr11_632269_645706	640003	CGCCTCCC others(89): Show CGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGG CCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00280.hp2 HG00597.hp1 others(34): Show HG00099.hp2 HG00280.hp2 HG00597.hp1 HG00609.hp2 HG01074.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01517.hp1 HG02004.hp1 HG02040.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02698.hp1 HG03492.hp2 HG04115.hp1 NA18747.hp1 NA18943.hp1 NA18951.hp2 NA18967.hp1 NA18973.hp2 NA19002.hp1 NA19002.hp2 NA19012.hp2 NA19055.hp1 NA19063.hp1 NA19064.hp1 NA19075.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp2 NA19240.hp2 NA20752.hp2	a0004 a0018 a0035 a0004 a0018 a0035	a0004c0004 a0004c0049 a0018c0033 others(1): Show a0004c0004 a0004c0049 a0018c0033 a0035c0023	a0004c0004t0001 a0004c0049t0001 a0018c0033t0001 others(1): Show a0004c0004t0001 a0004c0049t0001 a0018c0033t0001 a0035c0023t0001	a0004c0004t0001g0001 a0004c0004t0001g0002 a0004c0004t0001g0003 others(14): Show a0004c0004t0001g0001 a0004c0004t0001g0002 a0004c0004t0001g0003 a0004c0004t0001g0004 a0004c0004t0001g0011 a0004c0004t0001g0020 a0004c0004t0001g0025 a0004c0004t0001g0063 a0004c0004t0001g0064 a0004c0004t0001g0065 a0004c0004t0001g0066 a0004c0004t0001g0067 a0004c0004t0001g0068 a0004c0004t0001g0069 a0004c0049t0001g0004 a0018c0033t0001g0001 a0035c0023t0001g0001	37	421	0.0879	-96	c.807 others(103): Show c.807_902delTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCG CGCCCAGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCG CCCGGCCT	p.Pro others(13): Show p.Pro270_Leu301del	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	3/4	843/1399	807/1260	269/419	INFO_REALIGN_3_PRIME	chr11	TogoVar
DRD4_chr11_632269_645706	640056	TCCCCGGG others(41): Show TCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01358.hp2 HG01358.hp2	a0019 a0019	a0019c0034 a0019c0034	a0019c0034t0001 a0019c0034t0001	a0019c0034t0001g0019 a0019c0034t0001g0019	1	421	0.0024	-48	c.812 others(55): Show c.812_859delGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCC AGCCTCCCCC	p.Arg others(13): Show p.Arg271_Pro286del	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	3/4	848/1399	812/1260	271/419	INFO_REALIGN_3_PRIME	chr11	TogoVar
DRICH1_chr22_23603452_23637321	23622095	GCAT GCAT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp2 HG00323.hp2 HG00408.hp2 others(119): Show HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01433.hp2 HG01496.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02922.hp2 HG03041.hp2 HG03195.hp1 HG03516.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 NA18612.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18956.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18974.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA18999.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19059.hp1 NA19060.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0007 others(2): Show a0002 a0003 a0007 a0008 a0010	a0002c0002 a0003c0003 a0007c0005 others(2): Show a0002c0002 a0003c0003 a0007c0005 a0008c0012 a0010c0010	a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 others(10): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0009 a0007c0005t0004 a0007c0005t0006 a0008c0012t0002 a0008c0012t0004 a0010c0010t0002	a0002c0002t0002g0003 a0002c0002t0002g0014 a0002c0002t0002g0029 others(86): Show a0002c0002t0002g0003 a0002c0002t0002g0014 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0004g0009 a0002c0002t0004g0058 a0002c0002t0004g0060 a0002c0002t0004g0061 a0002c0002t0004g0087 a0002c0002t0004g0088 a0002c0002t0004g0096 a0002c0002t0004g0098 a0002c0002t0004g0099 a0002c0002t0006g0059 a0002c0002t0006g0089 a0003c0003t0001g0147 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0287 a0003c0003t0002g0005 a0003c0003t0002g0010 a0003c0003t0002g0032 a0003c0003t0002g0101 a0003c0003t0002g0102 a0003c0003t0002g0103 a0003c0003t0002g0105 a0003c0003t0002g0107 a0003c0003t0002g0109 a0003c0003t0002g0110 a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0115 a0003c0003t0002g0117 a0003c0003t0002g0118 a0003c0003t0002g0119 a0003c0003t0002g0120 a0003c0003t0002g0121 a0003c0003t0002g0124 a0003c0003t0002g0125 a0003c0003t0002g0128 a0003c0003t0003g0016 a0003c0003t0004g0007 a0003c0003t0004g0015 a0003c0003t0004g0104 a0003c0003t0004g0106 a0003c0003t0004g0108 a0003c0003t0004g0112 a0003c0003t0004g0116 a0003c0003t0004g0126 a0003c0003t0004g0127 a0003c0003t0009g0111 a0007c0005t0004g0093 a0007c0005t0004g0094 a0007c0005t0006g0092 a0008c0012t0002g0122 a0008c0012t0004g0123 a0010c0010t0002g0090 a0010c0010t0002g0091	122	446	0.2735	-3	c.377 others(10): Show c.377_379delATG	p.Asp others(6): Show p.Asp126del	DRICH1	ENSG00000189269.13	transcript	ENST00000317749.9	protein_coding	4/12	677/1300	377/690	126/229		chr22	TogoVar
DSE_chr6_116365947_116449861	116437084	TGGG TGGG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02109.hp1 HG02717.hp1 HG02895.hp2 others(2): Show HG02109.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp2 HG03516.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0012 a0004c0005t0012	a0004c0005t0012g0023 a0004c0005t0012g0067 a0004c0005t0012g0324 others(1): Show a0004c0005t0012g0023 a0004c0005t0012g0067 a0004c0005t0012g0324 a0004c0005t0012g0325	5	366	0.0137	-3	c.261 others(12): Show c.2619_2621delGGG	p.Gly others(6): Show p.Gly874del	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	6/6	2847/10621	2619/2877	873/958	INFO_REALIGN_3_PRIME	chr6	TogoVar
DSPP_chr4_87603529_87621873	87614861	TAGCAGTG others(11): Show TAGCAGTGACAGCAGCAAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG01123.hp1 HG01192.hp1 others(7): Show HG00140.hp1 HG01123.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01515.hp2 HG02004.hp1 HG03654.hp1 NA20752.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0011 a0008c0009t0001g0011	10	450	0.0222	-18	c.221 others(27): Show c.2214_2231delCAACAGCAGTGACAGCAG	p.Asn others(13): Show p.Asn739_Ser744del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	2334/4331	2214/3906	738/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87614933	TAGCAGTG others(11): Show TAGCAGTGACAGCAGCAAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp2 HG02622.hp2 HG02647.hp1 others(5): Show HG02055.hp2 HG02622.hp2 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03516.hp2	a0014 a0030 a0014 a0030	a0014c0012 a0030c0028 a0014c0012 a0030c0028	a0014c0012t0001 a0030c0028t0001 a0014c0012t0001 a0030c0028t0001	a0014c0012t0001g0022 a0014c0012t0001g0080 a0030c0028t0001g0040 a0014c0012t0001g0022 a0014c0012t0001g0080 a0030c0028t0001g0040	8	450	0.0178	-18	c.228 others(27): Show c.2286_2303delCAACAGCAGTGACAGCAG	p.Asn others(13): Show p.Asn763_Ser768del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	2406/4331	2286/3906	762/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615164	TAGC TAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00642.hp1 HG00733.hp1 HG00735.hp2 others(34): Show HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01175.hp1 HG01261.hp2 HG01361.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02280.hp2 HG02523.hp2 HG02922.hp1 HG03540.hp2 HG04115.hp2 HG04184.hp2 NA18612.hp2 NA18951.hp2 NA18953.hp1 NA18959.hp1 NA18969.hp1 NA18971.hp2 NA18978.hp1 NA18985.hp2 NA18987.hp2 NA19030.hp2 NA19072.hp1 NA19079.hp1 NA19085.hp2	a0006 a0013 a0047 a0006 a0013 a0047	a0006c0007 a0006c0008 a0013c0014 others(1): Show a0006c0007 a0006c0008 a0013c0014 a0047c0066	a0006c0007t0001 a0006c0008t0001 a0013c0014t0001 others(1): Show a0006c0007t0001 a0006c0008t0001 a0013c0014t0001 a0047c0066t0001	a0006c0007t0001g0001 a0006c0007t0001g0011 a0006c0007t0001g0070 others(4): Show a0006c0007t0001g0001 a0006c0007t0001g0011 a0006c0007t0001g0070 a0006c0007t0001g0072 a0006c0008t0001g0001 a0013c0014t0001g0001 a0047c0066t0001g0001	37	450	0.0822	-3	c.250 others(12): Show c.2507_2509delGCA	p.Ser others(6): Show p.Ser836del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	2627/4331	2507/3906	836/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615390	AACAGCAG others(2): Show AACAGCAGTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00558.hp2 HG00733.hp2 HG01109.hp1 others(52): Show HG00558.hp2 HG00733.hp2 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01981.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG03831.hp1 HG06807.hp1 NA18612.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0007 a0009 a0019 others(8): Show a0007 a0009 a0019 a0020 a0031 a0032 a0041 a0054 a0055 a0056 a0058	a0007c0006 a0007c0015 a0007c0070 others(13): Show a0007c0006 a0007c0015 a0007c0070 a0009c0016 a0009c0037 a0019c0024 a0020c0036 a0020c0068 a0020c0075 a0031c0038 a0032c0035 a0041c0062 a0054c0069 a0055c0072 a0056c0071 a0058c0073	a0007c0006t0001 a0007c0015t0001 a0007c0070t0001 others(13): Show a0007c0006t0001 a0007c0015t0001 a0007c0070t0001 a0009c0016t0001 a0009c0037t0001 a0019c0024t0001 a0020c0036t0001 a0020c0068t0001 a0020c0075t0001 a0031c0038t0001 a0032c0035t0001 a0041c0062t0003 a0054c0069t0001 a0055c0072t0001 a0056c0071t0001 a0058c0073t0001	a0007c0006t0001g0016 a0007c0006t0001g0017 a0007c0006t0001g0018 others(27): Show a0007c0006t0001g0016 a0007c0006t0001g0017 a0007c0006t0001g0018 a0007c0006t0001g0020 a0007c0006t0001g0021 a0007c0006t0001g0037 a0007c0006t0001g0064 a0007c0015t0001g0015 a0007c0070t0001g0037 a0009c0016t0001g0035 a0009c0016t0001g0036 a0009c0016t0001g0062 a0009c0016t0001g0067 a0009c0016t0001g0068 a0009c0037t0001g0016 a0009c0037t0001g0018 a0019c0024t0001g0016 a0019c0024t0001g0017 a0019c0024t0001g0036 a0020c0036t0001g0043 a0020c0036t0001g0046 a0020c0068t0001g0056 a0020c0075t0001g0045 a0031c0038t0001g0020 a0032c0035t0001g0030 a0041c0062t0003g0053 a0054c0069t0001g0058 a0055c0072t0001g0015 a0056c0071t0001g0044 a0058c0073t0001g0063	55	450	0.1222	-9	c.273 others(18): Show c.2739_2747delCAGCAGTGA	p.Ser others(13): Show p.Ser914_Asp916del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	2859/4331	2739/3906	913/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615491	CAGCAGTG others(2): Show CAGCAGTGAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp2 HG01167.hp1 HG01169.hp1 others(8): Show HG00639.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG02257.hp2 HG02451.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG03195.hp1 HG03209.hp2	a0012 a0018 a0044 a0012 a0018 a0044	a0012c0018 a0012c0040 a0018c0020 others(1): Show a0012c0018 a0012c0040 a0018c0020 a0044c0039	a0012c0018t0001 a0012c0040t0001 a0018c0020t0001 others(1): Show a0012c0018t0001 a0012c0040t0001 a0018c0020t0001 a0044c0039t0001	a0012c0018t0001g0014 a0012c0040t0001g0014 a0018c0020t0001g0013 others(1): Show a0012c0018t0001g0014 a0012c0040t0001g0014 a0018c0020t0001g0013 a0044c0039t0001g0014	11	450	0.0244	-9	c.283 others(18): Show c.2838_2846delTAGCAGTGA	p.Ser others(13): Show p.Ser947_Asp949del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	2958/4331	2838/3906	946/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615611	CGATAGCA others(11): Show CGATAGCAGTGACAGCAGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp2 HG01167.hp1 HG01169.hp1 others(8): Show HG00639.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG02257.hp2 HG02451.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG03195.hp1 HG03209.hp2	a0012 a0018 a0044 a0012 a0018 a0044	a0012c0018 a0012c0040 a0018c0020 others(1): Show a0012c0018 a0012c0040 a0018c0020 a0044c0039	a0012c0018t0001 a0012c0040t0001 a0018c0020t0001 others(1): Show a0012c0018t0001 a0012c0040t0001 a0018c0020t0001 a0044c0039t0001	a0012c0018t0001g0014 a0012c0040t0001g0014 a0018c0020t0001g0013 others(1): Show a0012c0018t0001g0014 a0012c0040t0001g0014 a0018c0020t0001g0013 a0044c0039t0001g0014	11	450	0.0244	-18	c.297 others(27): Show c.2970_2987delTAGCAGTGACAGCAGTGA	p.Ser others(13): Show p.Ser991_Asp996del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3090/4331	2970/3906	990/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615716	TAGTGACA others(11): Show TAGTGACAGCAGCAATAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(216): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02647.hp2 HG02735.hp1 HG02922.hp2 HG03017.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp2 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(17): Show a0001 a0002 a0004 a0009 a0010 a0011 a0015 a0016 a0017 a0023 a0024 a0025 a0026 a0041 a0042 a0043 a0046 a0050 a0053 a0057	a0001c0001 a0002c0002 a0002c0043 others(23): Show a0001c0001 a0002c0002 a0002c0043 a0004c0005 a0004c0010 a0004c0011 a0004c0023 a0009c0016 a0009c0037 a0010c0022 a0010c0026 a0011c0013 a0015c0019 a0016c0017 a0017c0021 a0023c0027 a0024c0032 a0025c0029 a0026c0048 a0041c0062 a0042c0067 a0043c0046 a0046c0049 a0050c0045 a0053c0041 a0057c0074	a0001c0001t0001 a0002c0002t0001 a0002c0043t0001 others(23): Show a0001c0001t0001 a0002c0002t0001 a0002c0043t0001 a0004c0005t0001 a0004c0010t0001 a0004c0011t0001 a0004c0023t0001 a0009c0016t0001 a0009c0037t0001 a0010c0022t0001 a0010c0026t0001 a0011c0013t0001 a0015c0019t0001 a0016c0017t0001 a0017c0021t0002 a0023c0027t0001 a0024c0032t0001 a0025c0029t0001 a0026c0048t0002 a0041c0062t0003 a0042c0067t0001 a0043c0046t0001 a0046c0049t0001 a0050c0045t0001 a0053c0041t0001 a0057c0074t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0057 a0001c0001t0001g0061 a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0028 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0043t0001g0003 a0004c0005t0001g0005 a0004c0005t0001g0007 a0004c0005t0001g0008 a0004c0005t0001g0027 a0004c0005t0001g0031 a0004c0005t0001g0049 a0004c0005t0001g0059 a0004c0005t0001g0060 a0004c0005t0001g0065 a0004c0010t0001g0005 a0004c0010t0001g0007 a0004c0011t0001g0005 a0004c0011t0001g0008 a0004c0011t0001g0050 a0004c0023t0001g0008 a0009c0016t0001g0035 a0009c0016t0001g0036 a0009c0016t0001g0062 a0009c0016t0001g0067 a0009c0016t0001g0068 a0009c0037t0001g0016 a0009c0037t0001g0018 a0010c0022t0001g0007 a0010c0026t0001g0007 a0011c0013t0001g0002 a0011c0013t0001g0009 a0011c0013t0001g0012 a0015c0019t0001g0003 a0016c0017t0001g0023 a0016c0017t0001g0055 a0017c0021t0002g0004 a0023c0027t0001g0027 a0024c0032t0001g0002 a0025c0029t0001g0002 a0025c0029t0001g0025 a0026c0048t0002g0004 a0041c0062t0003g0053 a0042c0067t0001g0005 a0043c0046t0001g0054 a0046c0049t0001g0002 a0050c0045t0001g0006 a0053c0041t0001g0003 a0057c0074t0001g0069	219	450	0.4867	-18	c.306 others(27): Show c.3069_3086delTAGCAGTGACAGCAGCAA	p.Ser others(15): Show p.Ser1024_Asn1029del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3189/4331	3069/3906	1023/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615749	CAGCAGTG others(11): Show CAGCAGTGACAGCAGCGAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02559.hp1 HG02572.hp1 HG02970.hp2 others(9): Show HG02559.hp1 HG02572.hp1 HG02970.hp2 HG02976.hp2 HG03139.hp1 HG03209.hp1 HG03654.hp2 HG03831.hp2 HG04199.hp1 HG04204.hp1 NA19030.hp1 NA19240.hp2	a0020 a0022 a0032 others(3): Show a0020 a0022 a0032 a0033 a0034 a0040	a0020c0036 a0020c0068 a0020c0075 others(6): Show a0020c0036 a0020c0068 a0020c0075 a0022c0030 a0022c0058 a0032c0035 a0033c0059 a0034c0060 a0040c0061	a0020c0036t0001 a0020c0068t0001 a0020c0075t0001 others(6): Show a0020c0036t0001 a0020c0068t0001 a0020c0075t0001 a0022c0030t0002 a0022c0058t0002 a0032c0035t0001 a0033c0059t0001 a0034c0060t0001 a0040c0061t0001	a0020c0036t0001g0043 a0020c0036t0001g0046 a0020c0068t0001g0056 others(7): Show a0020c0036t0001g0043 a0020c0036t0001g0046 a0020c0068t0001g0056 a0020c0075t0001g0045 a0022c0030t0002g0034 a0022c0058t0002g0009 a0032c0035t0001g0030 a0033c0059t0001g0033 a0034c0060t0001g0033 a0040c0061t0001g0052	12	450	0.0267	-18	c.313 others(27): Show c.3138_3155delCGATAGCAGTGACAGCAG	p.Asp others(15): Show p.Asp1047_Ser1052del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3258/4331	3138/3906	1046/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615783	GATAGCAG others(38): Show GATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01928.hp1 HG01928.hp1	a0036 a0036	a0036c0054 a0036c0054	a0036c0054t0001 a0036c0054t0001	a0036c0054t0001g0026 a0036c0054t0001g0026	1	450	0.0022	-45	c.313 others(54): Show c.3138_3182delCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAG TGACAGCAG	p.Asp others(15): Show p.Asp1047_Ser1061del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3258/4331	3138/3906	1046/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615821	CAGCAGCA others(2): Show CAGCAGCAAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp2 HG02647.hp1 HG02818.hp2 others(3): Show HG02055.hp2 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0001 a0014c0012t0001	a0014c0012t0001g0022 a0014c0012t0001g0080 a0014c0012t0001g0022 a0014c0012t0001g0080	6	450	0.0133	-9	c.316 others(18): Show c.3165_3173delCAATAGCAG	p.Asn others(15): Show p.Asn1056_Ser1058del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3285/4331	3165/3906	1055/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615893	CAGCAGTG others(83): Show CAGCAGTGATAGCAGTGAAAGCAGTGATAGCAGTGACAGCAGCAATAGCA GTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02897.hp2 HG02897.hp2	a0056 a0056	a0056c0071 a0056c0071	a0056c0071t0001 a0056c0071t0001	a0056c0071t0001g0044 a0056c0071t0001g0044	1	450	0.0022	-90	c.324 others(99): Show c.3240_3329delTAGCAGTGAAAGCAGTGATAGCAGTGACAGCAGCAA TAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCA GTGA	p.Ser others(15): Show p.Ser1081_Asp1110del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3360/4331	3240/3906	1080/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615900	GATAGCAG others(29): Show GATAGCAGTGAAAGCAGTGATAGCAGTGACAGCAGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA20805.hp1 NA20805.hp1	a0048 a0048	a0048c0065 a0048c0065	a0048c0065t0001 a0048c0065t0001	a0048c0065t0001g0071 a0048c0065t0001g0071	1	450	0.0022	-36	c.324 others(45): Show c.3249_3284delAAGCAGTGATAGCAGTGACAGCAGCAATAGCAGTGA	p.Glu others(15): Show p.Glu1083_Ser1094del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3369/4331	3249/3906	1083/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615908	TGAAAGCA others(137): Show TGAAAGCAGTGATAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATA GCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGT GACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp2 HG02647.hp1 HG02818.hp2 others(3): Show HG02055.hp2 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0001 a0014c0012t0001	a0014c0012t0001g0022 a0014c0012t0001g0080 a0014c0012t0001g0022 a0014c0012t0001g0080	6	450	0.0133	-144	c.324 others(9): Show c.3249_3392del	p.Glu others(15): Show p.Glu1083_Ser1130del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3369/4331	3249/3906	1083/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615918	GATAGCAG others(101): Show GATAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAG CAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTG ACAGCAGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(369): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 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 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.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 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.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 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(36): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0015 a0018 a0019 a0020 a0021 a0023 a0024 a0025 a0029 a0031 a0032 a0035 a0036 a0037 a0041 a0042 a0044 a0046 a0047 a0050 a0051 a0052 a0053 a0054 a0055 a0057 a0058	a0001c0001 a0002c0002 a0002c0043 others(49): Show a0001c0001 a0002c0002 a0002c0043 a0003c0003 a0003c0063 a0003c0064 a0004c0005 a0004c0010 a0004c0011 a0004c0023 a0006c0007 a0006c0008 a0007c0006 a0007c0015 a0008c0009 a0009c0016 a0009c0037 a0010c0022 a0010c0026 a0011c0013 a0012c0018 a0012c0040 a0013c0014 a0015c0019 a0018c0020 a0019c0024 a0020c0036 a0020c0068 a0020c0075 a0021c0025 a0023c0027 a0024c0032 a0025c0029 a0029c0034 a0031c0038 a0032c0035 a0035c0055 a0036c0054 a0037c0056 a0041c0062 a0042c0067 a0044c0039 a0046c0049 a0047c0066 a0050c0045 a0051c0044 a0052c0042 a0053c0041 a0054c0069 a0055c0072 a0057c0074 a0058c0073	a0001c0001t0001 a0002c0002t0001 a0002c0043t0001 others(49): Show a0001c0001t0001 a0002c0002t0001 a0002c0043t0001 a0003c0003t0001 a0003c0063t0001 a0003c0064t0001 a0004c0005t0001 a0004c0010t0001 a0004c0011t0001 a0004c0023t0001 a0006c0007t0001 a0006c0008t0001 a0007c0006t0001 a0007c0015t0001 a0008c0009t0001 a0009c0016t0001 a0009c0037t0001 a0010c0022t0001 a0010c0026t0001 a0011c0013t0001 a0012c0018t0001 a0012c0040t0001 a0013c0014t0001 a0015c0019t0001 a0018c0020t0001 a0019c0024t0001 a0020c0036t0001 a0020c0068t0001 a0020c0075t0001 a0021c0025t0001 a0023c0027t0001 a0024c0032t0001 a0025c0029t0001 a0029c0034t0001 a0031c0038t0001 a0032c0035t0001 a0035c0055t0001 a0036c0054t0001 a0037c0056t0001 a0041c0062t0003 a0042c0067t0001 a0044c0039t0001 a0046c0049t0001 a0047c0066t0001 a0050c0045t0001 a0051c0044t0001 a0052c0042t0001 a0053c0041t0001 a0054c0069t0001 a0055c0072t0001 a0057c0074t0001 a0058c0073t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(100): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0057 a0001c0001t0001g0061 a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0028 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0043t0001g0003 a0003c0003t0001g0001 a0003c0003t0001g0010 a0003c0003t0001g0039 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0001g0077 a0003c0003t0001g0078 a0003c0063t0001g0079 a0003c0064t0001g0001 a0004c0005t0001g0005 a0004c0005t0001g0007 a0004c0005t0001g0008 a0004c0005t0001g0027 a0004c0005t0001g0031 a0004c0005t0001g0049 a0004c0005t0001g0059 a0004c0005t0001g0060 a0004c0005t0001g0065 a0004c0010t0001g0005 a0004c0010t0001g0007 a0004c0011t0001g0005 a0004c0011t0001g0008 a0004c0011t0001g0050 a0004c0023t0001g0008 a0006c0007t0001g0001 a0006c0007t0001g0011 a0006c0007t0001g0070 a0006c0007t0001g0072 a0006c0008t0001g0001 a0007c0006t0001g0016 a0007c0006t0001g0017 a0007c0006t0001g0018 a0007c0006t0001g0020 a0007c0006t0001g0021 a0007c0006t0001g0037 a0007c0006t0001g0064 a0007c0015t0001g0015 a0008c0009t0001g0011 a0009c0016t0001g0035 a0009c0016t0001g0036 a0009c0016t0001g0062 a0009c0016t0001g0067 a0009c0016t0001g0068 a0009c0037t0001g0016 a0009c0037t0001g0018 a0010c0022t0001g0007 a0010c0026t0001g0007 a0011c0013t0001g0002 a0011c0013t0001g0009 a0011c0013t0001g0012 a0012c0018t0001g0014 a0012c0040t0001g0014 a0013c0014t0001g0001 a0015c0019t0001g0003 a0018c0020t0001g0013 a0019c0024t0001g0016 a0019c0024t0001g0017 a0019c0024t0001g0036 a0020c0036t0001g0043 a0020c0036t0001g0046 a0020c0068t0001g0056 a0020c0075t0001g0045 a0021c0025t0001g0002 a0023c0027t0001g0027 a0024c0032t0001g0002 a0025c0029t0001g0002 a0025c0029t0001g0025 a0029c0034t0001g0001 a0029c0034t0001g0010 a0031c0038t0001g0020 a0032c0035t0001g0030 a0035c0055t0001g0012 a0036c0054t0001g0026 a0037c0056t0001g0002 a0041c0062t0003g0053 a0042c0067t0001g0005 a0044c0039t0001g0014 a0046c0049t0001g0002 a0047c0066t0001g0001 a0050c0045t0001g0006 a0051c0044t0001g0006 a0052c0042t0001g0006 a0053c0041t0001g0003 a0054c0069t0001g0058 a0055c0072t0001g0015 a0057c0074t0001g0069 a0058c0073t0001g0063	372	450	0.8267	-108	c.327 others(9): Show c.3273_3380del	p.Asn others(15): Show p.Asn1092_Ser1127del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3393/4331	3273/3906	1091/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615920	TAGCAGTG others(128): Show TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCA GCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGAC AGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp1 HG02055.hp1 HG03139.hp1 others(5): Show HG01891.hp1 HG02055.hp1 HG03139.hp1 NA18945.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp2	a0004 a0016 a0033 others(1): Show a0004 a0016 a0033 a0034	a0004c0005 a0016c0017 a0033c0059 others(1): Show a0004c0005 a0016c0017 a0033c0059 a0034c0060	a0004c0005t0001 a0016c0017t0001 a0033c0059t0001 others(1): Show a0004c0005t0001 a0016c0017t0001 a0033c0059t0001 a0034c0060t0001	a0004c0005t0001g0008 a0016c0017t0001g0023 a0016c0017t0001g0055 others(2): Show a0004c0005t0001g0008 a0016c0017t0001g0023 a0016c0017t0001g0055 a0033c0059t0001g0033 a0034c0060t0001g0033	8	450	0.0178	-135	c.326 others(9): Show c.3267_3401del	p.Ser others(15): Show p.Ser1090_Asp1134del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3387/4331	3267/3906	1089/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615920	TAGCAGTG others(263): Show TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCA GCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGAC AGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGATAGCAG TGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAAAGCAGCGACA GCAGTGACAGCAGCGACAGCAGTGACAGCAGCGATAGCAGCGACAGCAGC GACAGCAGCGATAGCAGTGAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03579.hp1 HG03579.hp1	a0043 a0043	a0043c0046 a0043c0046	a0043c0046t0001 a0043c0046t0001	a0043c0046t0001g0054 a0043c0046t0001g0054	1	450	0.0022	-270	c.326 others(9): Show c.3264_3533del	p.Asp others(15): Show p.Asp1089_Ser1178del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3384/4331	3264/3906	1088/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615929	CAGCAGCA others(128): Show CAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCA GCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAAT AGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03486.hp1 HG03486.hp1	a0007 a0007	a0007c0070 a0007c0070	a0007c0070t0001 a0007c0070t0001	a0007c0070t0001g0037 a0007c0070t0001g0037	1	450	0.0022	-135	c.327 others(9): Show c.3273_3407del	p.Asn others(15): Show p.Asn1092_Ser1136del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3393/4331	3273/3906	1091/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87616001	TAGCAGTG others(155): Show TAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCA GCGACAGCAGTGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGAC AGCAGTGAAAGCAGCGACAGCAGTGACAGCAGCGACAGCAGTGACAGCAG CGATAGCAGCGAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02622.hp2 HG03516.hp2 HG02622.hp2 HG03516.hp2	a0030 a0030	a0030c0028 a0030c0028	a0030c0028t0001 a0030c0028t0001	a0030c0028t0001g0040 a0030c0028t0001g0040	2	450	0.0044	-162	c.334 others(9): Show c.3345_3506del	p.Asp others(15): Show p.Asp1116_Ser1169del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3465/4331	3345/3906	1115/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87616053	GACAGCAG others(20): Show GACAGCAGTGATAGCAGTGACAGCAGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00544.hp2 others(190): Show HG00099.hp1 HG00099.hp2 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18952.hp2 NA18953.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19010.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp2 NA19068.hp2 NA19072.hp2 NA19076.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19086.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0007 others(21): Show a0001 a0004 a0007 a0009 a0010 a0011 a0019 a0020 a0021 a0023 a0024 a0025 a0031 a0032 a0035 a0036 a0037 a0041 a0042 a0046 a0054 a0055 a0057 a0058	a0001c0001 a0004c0005 a0004c0010 others(29): Show a0001c0001 a0004c0005 a0004c0010 a0004c0011 a0004c0023 a0007c0006 a0007c0015 a0009c0016 a0009c0037 a0010c0022 a0010c0026 a0011c0013 a0019c0024 a0020c0036 a0020c0068 a0020c0075 a0021c0025 a0023c0027 a0024c0032 a0025c0029 a0031c0038 a0032c0035 a0035c0055 a0036c0054 a0037c0056 a0041c0062 a0042c0067 a0046c0049 a0054c0069 a0055c0072 a0057c0074 a0058c0073	a0001c0001t0001 a0004c0005t0001 a0004c0010t0001 others(29): Show a0001c0001t0001 a0004c0005t0001 a0004c0010t0001 a0004c0011t0001 a0004c0023t0001 a0007c0006t0001 a0007c0015t0001 a0009c0016t0001 a0009c0037t0001 a0010c0022t0001 a0010c0026t0001 a0011c0013t0001 a0019c0024t0001 a0020c0036t0001 a0020c0068t0001 a0020c0075t0001 a0021c0025t0001 a0023c0027t0001 a0024c0032t0001 a0025c0029t0001 a0031c0038t0001 a0032c0035t0001 a0035c0055t0001 a0036c0054t0001 a0037c0056t0001 a0041c0062t0003 a0042c0067t0001 a0046c0049t0001 a0054c0069t0001 a0055c0072t0001 a0057c0074t0001 a0058c0073t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(64): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0057 a0001c0001t0001g0061 a0004c0005t0001g0005 a0004c0005t0001g0007 a0004c0005t0001g0008 a0004c0005t0001g0027 a0004c0005t0001g0031 a0004c0005t0001g0049 a0004c0005t0001g0059 a0004c0005t0001g0060 a0004c0005t0001g0065 a0004c0010t0001g0005 a0004c0010t0001g0007 a0004c0011t0001g0005 a0004c0011t0001g0008 a0004c0011t0001g0050 a0004c0023t0001g0008 a0007c0006t0001g0016 a0007c0006t0001g0017 a0007c0006t0001g0018 a0007c0006t0001g0020 a0007c0006t0001g0021 a0007c0006t0001g0037 a0007c0006t0001g0064 a0007c0015t0001g0015 a0009c0016t0001g0035 a0009c0016t0001g0036 a0009c0016t0001g0062 a0009c0016t0001g0067 a0009c0016t0001g0068 a0009c0037t0001g0016 a0009c0037t0001g0018 a0010c0022t0001g0007 a0010c0026t0001g0007 a0011c0013t0001g0002 a0011c0013t0001g0009 a0011c0013t0001g0012 a0019c0024t0001g0016 a0019c0024t0001g0017 a0019c0024t0001g0036 a0020c0036t0001g0043 a0020c0036t0001g0046 a0020c0068t0001g0056 a0020c0075t0001g0045 a0021c0025t0001g0002 a0023c0027t0001g0027 a0024c0032t0001g0002 a0025c0029t0001g0002 a0025c0029t0001g0025 a0031c0038t0001g0020 a0032c0035t0001g0030 a0035c0055t0001g0012 a0036c0054t0001g0026 a0037c0056t0001g0002 a0041c0062t0003g0053 a0042c0067t0001g0005 a0046c0049t0001g0002 a0054c0069t0001g0058 a0055c0072t0001g0015 a0057c0074t0001g0069 a0058c0073t0001g0063	193	450	0.4289	-27	c.340 others(36): Show c.3402_3428delTAGCAGTGACAGCAGCAACAGCAGTGA	p.Ser others(15): Show p.Ser1135_Asp1143del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3522/4331	3402/3906	1134/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87616071	GACAGCAG others(2): Show GACAGCAGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(178): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02922.hp1 HG03017.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18963.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA20752.hp2	a0002 a0003 a0006 others(13): Show a0002 a0003 a0006 a0008 a0012 a0013 a0015 a0018 a0028 a0029 a0044 a0047 a0050 a0051 a0052 a0053	a0002c0002 a0002c0043 a0003c0003 others(18): Show a0002c0002 a0002c0043 a0003c0003 a0003c0063 a0003c0064 a0006c0007 a0006c0008 a0008c0009 a0012c0018 a0012c0040 a0013c0014 a0015c0019 a0018c0020 a0028c0033 a0029c0034 a0044c0039 a0047c0066 a0050c0045 a0051c0044 a0052c0042 a0053c0041	a0002c0002t0001 a0002c0043t0001 a0003c0003t0001 others(18): Show a0002c0002t0001 a0002c0043t0001 a0003c0003t0001 a0003c0063t0001 a0003c0064t0001 a0006c0007t0001 a0006c0008t0001 a0008c0009t0001 a0012c0018t0001 a0012c0040t0001 a0013c0014t0001 a0015c0019t0001 a0018c0020t0001 a0028c0033t0001 a0029c0034t0001 a0044c0039t0001 a0047c0066t0001 a0050c0045t0001 a0051c0044t0001 a0052c0042t0001 a0053c0041t0001	a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0028 others(35): Show a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0028 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0043t0001g0003 a0003c0003t0001g0001 a0003c0003t0001g0010 a0003c0003t0001g0039 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0001g0077 a0003c0003t0001g0078 a0003c0063t0001g0079 a0003c0064t0001g0001 a0006c0007t0001g0001 a0006c0007t0001g0011 a0006c0007t0001g0070 a0006c0007t0001g0072 a0006c0008t0001g0001 a0008c0009t0001g0011 a0012c0018t0001g0014 a0012c0040t0001g0014 a0013c0014t0001g0001 a0015c0019t0001g0003 a0018c0020t0001g0013 a0028c0033t0001g0047 a0028c0033t0001g0048 a0029c0034t0001g0001 a0029c0034t0001g0010 a0044c0039t0001g0014 a0047c0066t0001g0001 a0050c0045t0001g0006 a0051c0044t0001g0006 a0052c0042t0001g0006 a0053c0041t0001g0003	181	450	0.4022	-9	c.341 others(18): Show c.3417_3425delCAACAGCAG	p.Asn others(15): Show p.Asn1140_Ser1142del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3537/4331	3417/3906	1139/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87616145	CAGCAGCG others(2): Show CAGCAGCGAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00738.hp1 HG01070.hp2 others(61): Show HG00099.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp2 HG01175.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01934.hp1 HG01943.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02273.hp2 HG02300.hp2 HG02572.hp2 HG02602.hp2 HG02735.hp1 HG03471.hp2 HG03491.hp2 HG03669.hp2 HG03704.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18945.hp2 NA18948.hp2 NA18952.hp2 NA18956.hp1 NA18959.hp2 NA18964.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18986.hp2 NA18991.hp2 NA18995.hp1 NA18997.hp2 NA19010.hp2 NA19057.hp2 NA19062.hp1 NA19072.hp2 NA19080.hp1 NA19081.hp1 NA19090.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0004 a0010 a0023 others(2): Show a0004 a0010 a0023 a0042 a0057	a0004c0005 a0004c0010 a0004c0011 others(6): Show a0004c0005 a0004c0010 a0004c0011 a0004c0023 a0010c0022 a0010c0026 a0023c0027 a0042c0067 a0057c0074	a0004c0005t0001 a0004c0010t0001 a0004c0011t0001 others(6): Show a0004c0005t0001 a0004c0010t0001 a0004c0011t0001 a0004c0023t0001 a0010c0022t0001 a0010c0026t0001 a0023c0027t0001 a0042c0067t0001 a0057c0074t0001	a0004c0005t0001g0005 a0004c0005t0001g0007 a0004c0005t0001g0008 others(17): Show a0004c0005t0001g0005 a0004c0005t0001g0007 a0004c0005t0001g0008 a0004c0005t0001g0027 a0004c0005t0001g0031 a0004c0005t0001g0049 a0004c0005t0001g0059 a0004c0005t0001g0060 a0004c0005t0001g0065 a0004c0010t0001g0005 a0004c0010t0001g0007 a0004c0011t0001g0005 a0004c0011t0001g0008 a0004c0011t0001g0050 a0004c0023t0001g0008 a0010c0022t0001g0007 a0010c0026t0001g0007 a0023c0027t0001g0027 a0042c0067t0001g0005 a0057c0074t0001g0069	64	450	0.1422	-9	c.349 others(18): Show c.3492_3500delTAGCAGCGA	p.Ser others(15): Show p.Ser1165_Asp1167del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3612/4331	3492/3906	1164/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87616226	TAGCAGTG others(2): Show TAGCAGTGAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18940.hp1 NA19062.hp1 NA19072.hp2 others(1): Show NA18940.hp1 NA19062.hp1 NA19072.hp2 NA19081.hp1	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0001 a0010c0022t0001	a0010c0022t0001g0007 a0010c0022t0001g0007	4	450	0.0089	-9	c.357 others(18): Show c.3570_3578delTGACAGCAG	p.Asp others(15): Show p.Asp1191_Ser1193del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3690/4331	3570/3906	1190/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87616274	TAGTGATA others(11): Show TAGTGATAGCAGTGACAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03139.hp1 HG03139.hp1	a0034 a0034	a0034c0060 a0034c0060	a0034c0060t0001 a0034c0060t0001	a0034c0060t0001g0033 a0034c0060t0001g0033	1	450	0.0022	-18	c.361 others(27): Show c.3618_3635delTAGCAGTGACAGCAGTGA	p.Ser others(15): Show p.Ser1207_Asp1212del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3738/4331	3618/3906	1206/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87616274	TAGTGATA others(29): Show TAGTGATAGCAGTGACAGCAGTGACAGCAGCGACAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19030.hp1 NA19030.hp1	a0033 a0033	a0033c0059 a0033c0059	a0033c0059t0001 a0033c0059t0001	a0033c0059t0001g0033 a0033c0059t0001g0033	1	450	0.0022	-36	c.361 others(45): Show c.3618_3653delTAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGA	p.Ser others(15): Show p.Ser1207_Asp1218del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3738/4331	3618/3906	1206/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87616286	TGACAGCA others(11): Show TGACAGCAGTGACAGCAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01106.hp1 HG01891.hp1 HG02015.hp1 others(24): Show HG01106.hp1 HG01891.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02647.hp1 HG02698.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp2 HG03688.hp2 HG03710.hp2 HG04228.hp1 NA18957.hp2 NA18970.hp1 NA18985.hp2 NA19043.hp1 NA19075.hp2 NA19085.hp2 NA19240.hp1 NA20129.hp2	a0013 a0014 a0015 others(4): Show a0013 a0014 a0015 a0016 a0024 a0029 a0039	a0013c0014 a0014c0012 a0015c0019 others(4): Show a0013c0014 a0014c0012 a0015c0019 a0016c0017 a0024c0032 a0029c0034 a0039c0052	a0013c0014t0001 a0014c0012t0001 a0015c0019t0001 others(4): Show a0013c0014t0001 a0014c0012t0001 a0015c0019t0001 a0016c0017t0001 a0024c0032t0001 a0029c0034t0001 a0039c0052t0002	a0013c0014t0001g0001 a0014c0012t0001g0022 a0014c0012t0001g0080 others(7): Show a0013c0014t0001g0001 a0014c0012t0001g0022 a0014c0012t0001g0080 a0015c0019t0001g0003 a0016c0017t0001g0023 a0016c0017t0001g0055 a0024c0032t0001g0002 a0029c0034t0001g0001 a0029c0034t0001g0010 a0039c0052t0002g0042	27	450	0.0600	-18	c.367 others(27): Show c.3677_3694delGCGACAGCAGTGACAGCA	p.Ser others(15): Show p.Ser1226_Ser1231del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3797/4331	3677/3906	1226/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87616295	TGACAGCA others(2): Show TGACAGCAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp2 HG01123.hp2 HG01175.hp2 others(9): Show HG00639.hp2 HG01123.hp2 HG01175.hp2 HG02145.hp1 HG02451.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG03195.hp1 HG03209.hp2 NA19043.hp2	a0010 a0012 a0028 others(1): Show a0010 a0012 a0028 a0044	a0010c0026 a0012c0018 a0012c0040 others(2): Show a0010c0026 a0012c0018 a0012c0040 a0028c0033 a0044c0039	a0010c0026t0001 a0012c0018t0001 a0012c0040t0001 others(2): Show a0010c0026t0001 a0012c0018t0001 a0012c0040t0001 a0028c0033t0001 a0044c0039t0001	a0010c0026t0001g0007 a0012c0018t0001g0014 a0012c0040t0001g0014 others(3): Show a0010c0026t0001g0007 a0012c0018t0001g0014 a0012c0040t0001g0014 a0028c0033t0001g0047 a0028c0033t0001g0048 a0044c0039t0001g0014	12	450	0.0267	-9	c.364 others(18): Show c.3642_3650delCGACAGCAG	p.Asp others(15): Show p.Asp1215_Ser1217del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3762/4331	3642/3906	1214/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87616313	TGACAGCA others(2): Show TGACAGCAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01243.hp1 HG02970.hp2 HG03209.hp1 HG01243.hp1 HG02970.hp2 HG03209.hp1	a0032 a0054 a0032 a0054	a0032c0035 a0054c0069 a0032c0035 a0054c0069	a0032c0035t0001 a0054c0069t0001 a0032c0035t0001 a0054c0069t0001	a0032c0035t0001g0030 a0054c0069t0001g0058 a0032c0035t0001g0030 a0054c0069t0001g0058	3	450	0.0067	-9	c.366 others(18): Show c.3660_3668delCGACAGCAG	p.Asp others(15): Show p.Asp1221_Ser1223del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3780/4331	3660/3906	1220/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87616352	CAGCAATG others(2): Show CAGCAATGAA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01243.hp1 HG02897.hp2 HG02970.hp2 others(1): Show HG01243.hp1 HG02897.hp2 HG02970.hp2 HG03209.hp1	a0032 a0054 a0056 a0032 a0054 a0056	a0032c0035 a0054c0069 a0056c0071 a0032c0035 a0054c0069 a0056c0071	a0032c0035t0001 a0054c0069t0001 a0056c0071t0001 a0032c0035t0001 a0054c0069t0001 a0056c0071t0001	a0032c0035t0001g0030 a0054c0069t0001g0058 a0056c0071t0001g0044 a0032c0035t0001g0030 a0054c0069t0001g0058 a0056c0071t0001g0044	4	450	0.0089	-9	c.369 others(18): Show c.3695_3703delATGAAAGCA	p.Asn others(15): Show p.Asn1232_Ser1234del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3815/4331	3695/3906	1232/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DUSP16_chr12_12468282_12567863	12477731	TGCACGCT others(2): Show TGCACGCTGG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp2 HG00423.hp1 HG00544.hp1 others(86): Show HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02622.hp2 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03540.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp2 NA18940.hp1 NA18941.hp1 NA18946.hp1 NA18952.hp2 NA18954.hp2 NA18960.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18970.hp2 NA18975.hp2 NA18978.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19055.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19086.hp2 NA19089.hp2 NA20129.hp1 NA20300.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0002c0003 a0002c0013 others(1): Show a0002c0002 a0002c0003 a0002c0013 a0009c0009	a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 others(13): Show a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0015 a0002c0002t0023 a0002c0002t0026 a0002c0003t0001 a0002c0003t0004 a0002c0003t0013 a0002c0003t0020 a0002c0003t0024 a0002c0003t0036 a0002c0003t0039 a0002c0003t0064 a0002c0013t0004 a0009c0009t0004	a0002c0002t0003g0007 a0002c0002t0003g0016 a0002c0002t0003g0017 others(83): Show a0002c0002t0003g0007 a0002c0002t0003g0016 a0002c0002t0003g0017 a0002c0002t0003g0018 a0002c0002t0003g0019 a0002c0002t0003g0020 a0002c0002t0003g0021 a0002c0002t0003g0022 a0002c0002t0003g0023 a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0027 a0002c0002t0003g0028 a0002c0002t0003g0030 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0004g0128 a0002c0002t0004g0187 a0002c0002t0004g0188 a0002c0002t0004g0190 a0002c0002t0004g0191 a0002c0002t0004g0193 a0002c0002t0004g0195 a0002c0002t0004g0295 a0002c0002t0004g0322 a0002c0002t0011g0029 a0002c0002t0011g0031 a0002c0002t0011g0032 a0002c0002t0011g0050 a0002c0002t0015g0289 a0002c0002t0023g0037 a0002c0002t0026g0061 a0002c0003t0001g0147 a0002c0003t0001g0156 a0002c0003t0001g0166 a0002c0003t0001g0167 a0002c0003t0001g0192 a0002c0003t0001g0321 a0002c0003t0004g0001 a0002c0003t0004g0118 a0002c0003t0004g0124 a0002c0003t0004g0185 a0002c0003t0004g0186 a0002c0003t0004g0240 a0002c0003t0004g0242 a0002c0003t0004g0244 a0002c0003t0004g0245 a0002c0003t0004g0246 a0002c0003t0004g0248 a0002c0003t0004g0249 a0002c0003t0004g0251 a0002c0003t0004g0252 a0002c0003t0004g0253 a0002c0003t0004g0268 a0002c0003t0013g0068 a0002c0003t0013g0069 a0002c0003t0020g0334 a0002c0003t0020g0336 a0002c0003t0024g0054 a0002c0003t0036g0250 a0002c0003t0039g0241 a0002c0003t0064g0337 a0002c0013t0004g0189 a0009c0009t0004g0194	89	352	0.2528	-9	c.109 others(18): Show c.1091_1099delCCAGCGTGC	p.Pro others(13): Show p.Pro364_Val366del	DUSP16	ENSG00000111266.9	transcript	ENST00000298573.9	protein_coding	7/7	2211/6661	1091/1998	364/665		chr12	TogoVar
DUSP21_chrX_44839021_44849888	44844255	CCTT CCTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18945.hp1 NA18945.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0000 a0004c0003t0001g0000	1	285	0.0035	-3	c.126 others(10): Show c.126_128delTCT	p.Leu others(5): Show p.Leu43del	DUSP21	ENSG00000189037.8	transcript	ENST00000339042.6	protein_coding	1/1	238/868	126/573	42/190	INFO_REALIGN_3_PRIME	chrX	TogoVar
DUSP28_chr2_240555357_240570256	240560857	CGCGCGCG others(17): Show CGCGCGCGCCCGGCGTGGCAGAGCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00738.hp2 HG01099.hp2 HG00738.hp2 HG01099.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0005	a0004c0005t0005g0001 a0004c0005t0005g0001	2	422	0.0047	-24	c.179 others(31): Show c.179_202delCGCCCGGCGTGGCAGAGCTGCGCG	p.Ala others(11): Show p.Ala60_Arg67del	DUSP28	ENSG00000188542.10	transcript	ENST00000405954.2	protein_coding	1/2	507/4648	179/531	60/176	INFO_REALIGN_3_PRIME	chr2	TogoVar
DUSP29_chr10_75032472_75078642	75043841	TAGA TAGA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02145.hp2 HG03516.hp1 NA18522.hp1 HG02145.hp2 HG03516.hp1 NA18522.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0041 a0004c0005t0001g0126 a0004c0005t0001g0041 a0004c0005t0001g0126	3	368	0.0082	-3	c.374 others(10): Show c.374_376delTCT	p.Phe others(6): Show p.Phe125del	DUSP29	ENSG00000188716.6	transcript	ENST00000338487.6	protein_coding	3/4	484/1135	374/663	125/220		chr10	TogoVar
DUSP8_chr11_1549051_1577271	1556987	TGCGCGGG others(5): Show TGCGCGGGGGAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18980.hp1 NA18980.hp1	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0024 a0008c0019t0024	a0008c0019t0024g0099 a0008c0019t0024g0099	1	367	0.0027	-12	c.139 others(21): Show c.1397_1408delGCTCCCCCGCGC	p.Arg others(13): Show p.Arg466_Ala469del	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding	7/7	1887/4824	1397/1878	466/625		chr11	TogoVar
DVL3_chr3_184150377_184178614	184170135	CCCCGCAC others(8): Show CCCCGCACCCATACAA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18942.hp1 NA18942.hp2 NA18974.hp2 others(3): Show NA18942.hp1 NA18942.hp2 NA18974.hp2 NA18983.hp2 NA19002.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0010 a0002c0002t0002 a0002c0002t0010	a0002c0002t0002g0003 a0002c0002t0010g0003 a0002c0002t0002g0003 a0002c0002t0010g0003	6	400	0.0150	-15	c.163 others(24): Show c.1638_1652delATACAACCCGCACCC	p.Tyr others(13): Show p.Tyr547_Pro551del	DVL3	ENSG00000161202.20	transcript	ENST00000313143.9	protein_coding	14/15	1897/5269	1638/2151	546/716	INFO_REALIGN_3_PRIME	chr3	TogoVar
E2F3_chr6_20396879_20498714	20402363	TCGCCGCC others(2): Show TCGCCGCCGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01255.hp1 HG02723.hp1 HG02809.hp1 others(1): Show HG01255.hp1 HG02723.hp1 HG02809.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 others(1): Show a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0004g0092	4	336	0.0119	-9	c.141 others(16): Show c.141_149delCGCCGCCGC	p.Ala others(11): Show p.Ala48_Ala50del	E2F3	ENSG00000112242.16	transcript	ENST00000346618.8	protein_coding	1/7	495/5036	141/1398	47/465	INFO_REALIGN_3_PRIME	chr6	TogoVar
E2F4_chr16_67187155_67203918	67195890	ACAGCAG ACAGCAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG02004.hp2 HG03209.hp1 HG00099.hp1 HG02004.hp2 HG03209.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0001 a0006c0007t0001g0037 a0006c0007t0001g0001 a0006c0007t0001g0037	3	320	0.0094	-6	c.953 others(13): Show c.953_958delGCAGCA	p.Ser others(13): Show p.Ser318_Ser319del	E2F4	ENSG00000205250.9	transcript	ENST00000379378.8	protein_coding	7/10	1026/2110	953/1242	318/413	INFO_REALIGN_3_PRIME	chr16	TogoVar
E2F4_chr16_67187155_67203918	67195890	ACAGCAGC others(2): Show ACAGCAGCAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp2 HG02559.hp1 HG02970.hp1 others(1): Show HG02055.hp2 HG02559.hp1 HG02970.hp1 HG03486.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0001 a0004c0005t0001g0001	4	320	0.0125	-9	c.950 others(16): Show c.950_958delGCAGCAGCA	p.Ser others(13): Show p.Ser317_Ser319del	E2F4	ENSG00000205250.9	transcript	ENST00000379378.8	protein_coding	7/10	1023/2110	950/1242	317/413	INFO_REALIGN_3_PRIME	chr16	TogoVar
EDDM13_chr19_56267748_56315454	56282492	GCTGAAAG others(294): Show GCTGAAAGGTAAGCTTCTCATTCCATCTCTTTCCCTTTGGGGTCTGTTTG CCTTTGTCCAAAAGGGATCATTGCTGCTGAACTTCGACTTACGTTTCTTC TCTGGTCTGTTCACAGCTTAGCTTCTAATAGCGGAACTAGTAAAACCAAG TGTGGAATTGTCCTTTGATGAACAACAACAACAACAAAAGCCCTTTTACT TGTCTCCCCTCAAAGCCACTTGTCCAGAAACTGAGCACTCTTTCATGGTC CGCACATGGCTCAAGGAAAGCTATTAGGTCTGAGAGCTCAATTCAGGTCT AC	G G	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18956.hp2 NA18956.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0291 a0004c0008t0001g0291	1	396	0.0025	-301	c.116 others(11): Show c.116_118+298del	p.Lys others(17): Show p.Lys39_Gly40delinsArg	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	4/15	203/879	116/486	39/161	INFO_REALIGN_3_PRIME	chr19	TogoVar
EDNRA_chr4_147476097_147549954	147540366	TTTTGCTC others(24): Show TTTTGCTCTAGTTTCTTACTGCTCATGGATTA	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0204 a0003c0004t0007g0204	1	280	0.0036	-31	c.103 others(43): Show c.1035-10_1055delTTTGCTCTAGTTTCTTACTGCTCATGGATTA	p.Phe others(13): Show p.Phe346_Tyr352del	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	7/8		1035/1284	345/427		chr4	TogoVar
EFNA3_chr1_155073837_155092538	155085169	GGGGGTGG others(5): Show GGGGGTGGGCCCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01099.hp1 HG02735.hp1 HG01099.hp1 HG02735.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0002 a0003c0004t0002g0002	2	334	0.0060	-12	c.212 others(19): Show c.212_223delTGGGCCCCGGGG	p.Val others(11): Show p.Val71_Gly74del	EFNA3	ENSG00000143590.14	transcript	ENST00000368408.4	protein_coding	2/5	317/1817	212/717	71/238	INFO_REALIGN_3_PRIME	chr1	TogoVar
EGLN1_chr1_231358756_231427287	231421496	GGCGGCCG others(14): Show GGCGGCCGCACGACACGGCGAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18951.hp2 NA18965.hp1 NA19081.hp2 NA18951.hp2 NA18965.hp1 NA19081.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0008 a0005c0005t0002g0009 a0005c0005t0002g0010 a0005c0005t0002g0008 a0005c0005t0002g0009 a0005c0005t0002g0010	3	338	0.0089	-21	c.372 others(28): Show c.372_392delGTCGCCGTGTCGTGCGGCCGC	p.Ser others(13): Show p.Ser125_Ala131del	EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding	1/5	791/4335	372/1281	124/426		chr1	TogoVar
EIF2S1_chr14_67355328_67391516	67383349	TTGCGAGG others(29): Show TTGCGAGGCAGATGGAGAGGCTTGAAAGAGAAAATGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03239.hp2 HG03239.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0035 a0003c0004t0035	a0003c0004t0035g0001 a0003c0004t0035g0001	1	368	0.0027	-36	c.858 others(43): Show c.858_893delTGCGAGGCAGATGGAGAGGCTTGAAAGAGAAAATGC	p.Ala others(13): Show p.Ala287_Ala298del	EIF2S1	ENSG00000134001.15	transcript	ENST00000256383.11	protein_coding	8/8	988/4154	858/948	286/315		chr14	TogoVar
EIF3A_chr10_119028670_119085817	119042184	CCCTCGCC others(23): Show CCCTCGCCTGGGACCCCGGTCATCATCCATG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02040.hp2 HG02451.hp2 HG02630.hp2 others(1): Show HG02040.hp2 HG02451.hp2 HG02630.hp2 HG03225.hp2	a0004 a0004	a0004c0007 a0004c0014 a0004c0007 a0004c0014	a0004c0007t0012 a0004c0007t0021 a0004c0014t0018 a0004c0007t0012 a0004c0007t0021 a0004c0014t0018	a0004c0007t0012g0328 a0004c0007t0012g0329 a0004c0007t0021g0025 others(1): Show a0004c0007t0012g0328 a0004c0007t0012g0329 a0004c0007t0021g0025 a0004c0014t0018g0241	4	350	0.0114	-30	c.330 others(39): Show c.3306_3335delCATGGATGATGACCGGGGTCCCAGGCGAGG	p.Met others(15): Show p.Met1103_Gly1112del	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	19/22	3476/6659	3306/4149	1102/1382		chr10	TogoVar

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