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
DNAJC5B_chr8_66016553_66106245	66076826	GACGAAAA others(5): Show GACGAAAACGTTA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0003 a0003c0004t0004g0003	1	254	0.0039	-12	c.289 others(19): Show c.289_300delGAAAACGTTAAC	p.Glu others(12): Show p.Glu97_Asn100del	DNAJC5B	ENSG00000147570.10	transcript	ENST00000276570.10	protein_coding	4/6	583/2108	289/600	97/199	INFO_REALIGN_3_PRIME	chr8	TogoVar
DNER_chr2_229352629_229719555	229591816	CGCTGCTG others(5): Show CGCTGCTGCTGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01109.hp2 HG02258.hp1 HG02818.hp1 others(4): Show HG01109.hp2 HG02258.hp1 HG02818.hp1 HG03139.hp2 HG03195.hp2 HG03486.hp2 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0017 a0002c0003 a0002c0017	a0002c0003t0001 a0002c0003t0002 a0002c0017t0002 a0002c0003t0001 a0002c0003t0002 a0002c0017t0002	a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0014 others(4): Show a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0014 a0002c0003t0001g0022 a0002c0003t0001g0104 a0002c0003t0002g0009 a0002c0017t0002g0153	7	176	0.0398	-12	c.337 others(19): Show c.337_348delAGCAGCAGCAGC	p.Ser others(13): Show p.Ser113_Ser116del	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	2/13	480/3257	337/2214	113/737		chr2	TogoVar
DPY19L1_chr7_34923881_35042485	35037172	GGCGCCCC others(14): Show GGCGCCCCCCAAGGCCGCCCCC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18943.hp1 NA18943.hp1	a0009 a0009	a0009c0004 a0009c0004	a0009c0004t0001 a0009c0004t0001	a0009c0004t0001g0004 a0009c0004t0001g0004	1	328	0.0031	-21	c.202 others(28): Show c.202_222delGGGGGCGGCCTTGGGGGGCGC	p.Gly others(11): Show p.Gly68_Arg74del	DPY19L1	ENSG00000173852.16	transcript	ENST00000638088.2	protein_coding	1/22	313/5030	202/2247	68/748		chr7	TogoVar
DRC1_chr2_26396920_26461711	26453335	CAGGCGAG others(8): Show CAGGCGAGCATGGAGA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01109.hp2 HG01109.hp2	a0019 a0019	a0019c0027 a0019c0027	a0019c0027t0001 a0019c0027t0001	a0019c0027t0001g0344 a0019c0027t0001g0344	1	384	0.0026	-15	c.172 others(24): Show c.1720_1734delAAGGCGAGCATGGAG	p.Lys others(13): Show p.Lys574_Glu578del	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	14/17	1790/2487	1720/2223	574/740	INFO_REALIGN_3_PRIME	chr2	TogoVar
DRD1_chr5_175435036_175449182	175442442	TCCTGTAG others(173): Show TCCTGTAGATCCTGGTGTAGGTGACAATCATGATGGCCACAGGGATGTAA AAGCTTATTACAGAGGATGAGATGGCATATGTCCTGCTGAGGCTGGAGTC ACAGTTGTCTATGGTCTCAGCCAGGGAAGTGGCATTTCCATCAGAGGGGC TTGTGGGTTTTGCCTTGTGCCAGCTGAGCTG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0027 a0002c0006t0001g0027	1	490	0.0020	-180	c.478 others(7): Show c.478_657del	p.Gln others(13): Show p.Gln160_Arg219del	DRD1	ENSG00000184845.4	transcript	ENST00000393752.3	protein_coding	2/2	1624/4031	478/1341	160/446		chr5	TogoVar
DRD4_chr11_632269_645706	637361	CGCGGGGG others(5): Show CGCGGGGGCATCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp1 HG00423.hp2 others(42): Show HG00099.hp2 HG00140.hp1 HG00423.hp2 HG00544.hp2 HG01069.hp1 HG01070.hp1 HG01123.hp1 HG01256.hp1 HG01346.hp1 HG01943.hp2 HG02015.hp2 HG02071.hp1 HG02074.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18970.hp2 NA18971.hp2 NA18982.hp1 NA18985.hp2 NA19001.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19079.hp1 NA19081.hp1 NA19087.hp2 NA20905.hp1	a0003 a0009 a0035 others(3): Show a0003 a0009 a0035 a0036 a0037 a0038	a0003c0003 a0009c0010 a0035c0023 others(3): Show a0003c0003 a0009c0010 a0035c0023 a0036c0026 a0037c0025 a0038c0024	a0003c0003t0001 a0003c0003t0004 a0009c0010t0001 others(4): Show a0003c0003t0001 a0003c0003t0004 a0009c0010t0001 a0035c0023t0001 a0036c0026t0001 a0037c0025t0001 a0038c0024t0001	a0003c0003t0001g0001 a0003c0003t0001g0003 a0003c0003t0001g0005 others(9): Show a0003c0003t0001g0001 a0003c0003t0001g0003 a0003c0003t0001g0005 a0003c0003t0001g0007 a0003c0003t0001g0054 a0003c0003t0004g0001 a0009c0010t0001g0001 a0009c0010t0001g0003 a0035c0023t0001g0001 a0036c0026t0001g0001 a0037c0025t0001g0001 a0038c0024t0001g0001	45	421	0.1069	-12	c.76_ others(17): Show c.76_87delGCATCTGCGGGG	p.Ala others(11): Show p.Ala26_Gly29del	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	1/4	112/1399	76/1260	26/419	INFO_REALIGN_3_PRIME	chr11	TogoVar
DRD4_chr11_632269_645706	640065	TCCCTGCG others(41): Show TCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGAC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01346.hp1 NA19087.hp1 NA19091.hp1 HG01346.hp1 NA19087.hp1 NA19091.hp1	a0014 a0038 a0014 a0038	a0014c0018 a0038c0024 a0014c0018 a0038c0024	a0014c0018t0001 a0038c0024t0001 a0014c0018t0001 a0038c0024t0001	a0014c0018t0001g0001 a0038c0024t0001g0001 a0014c0018t0001g0001 a0038c0024t0001g0001	3	421	0.0071	-48	c.841 others(55): Show c.841_888delGCCGCGCCCAGCCTCCCCCAGGACCCCTGCGGCCCCGA CTGTGCGCCC	p.Ala others(13): Show p.Ala281_Pro296del	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	3/4	877/1399	841/1260	281/419	INFO_REALIGN_3_PRIME	chr11	TogoVar
DSPP_chr4_87603529_87621873	87614693	CAGCAGT CAGCAGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02630.hp1 HG02723.hp2 HG02965.hp2 others(3): Show HG02630.hp1 HG02723.hp2 HG02965.hp2 HG02970.hp1 HG03453.hp1 HG03579.hp2	a0019 a0031 a0019 a0031	a0019c0024 a0031c0038 a0019c0024 a0031c0038	a0019c0024t0001 a0031c0038t0001 a0019c0024t0001 a0031c0038t0001	a0019c0024t0001g0016 a0019c0024t0001g0017 a0019c0024t0001g0036 others(1): Show a0019c0024t0001g0016 a0019c0024t0001g0017 a0019c0024t0001g0036 a0031c0038t0001g0020	6	450	0.0133	-6	c.203 others(15): Show c.2038_2043delAGCAGT	p.Ser others(13): Show p.Ser680_Ser681del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	2158/4331	2038/3906	680/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87614773	GTAGTGAC others(8): Show GTAGTGACAGCAGTGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02071.hp1 HG02071.hp1	a0046 a0046	a0046c0049 a0046c0049	a0046c0049t0001 a0046c0049t0001	a0046c0049t0001g0002 a0046c0049t0001g0002	1	450	0.0022	-15	c.213 others(24): Show c.2131_2145delGACAGCAGTGATAGT	p.Asp others(13): Show p.Asp711_Ser715del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	2251/4331	2131/3906	711/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615161	CGATAGCA others(11): Show CGATAGCAGCAACAGCAGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02622.hp2 HG03516.hp2 HG02622.hp2 HG03516.hp2	a0030 a0030	a0030c0028 a0030c0028	a0030c0028t0001 a0030c0028t0001	a0030c0028t0001g0040 a0030c0028t0001g0040	2	450	0.0044	-18	c.250 others(27): Show c.2509_2526delAACAGCAGTGATAGCAGC	p.Asn others(13): Show p.Asn837_Ser842del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	2629/4331	2509/3906	837/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615221	CGACAGCA others(29): Show CGACAGCAGCAATAGAAGTGACAGTAGTAATAGTAGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01167.hp1 HG01169.hp1 HG01192.hp2 others(1): Show HG01167.hp1 HG01169.hp1 HG01192.hp2 HG02257.hp2	a0018 a0018	a0018c0020 a0018c0020	a0018c0020t0001 a0018c0020t0001	a0018c0020t0001g0013 a0018c0020t0001g0013	4	450	0.0089	-36	c.256 others(45): Show c.2569_2604delAATAGAAGTGACAGTAGTAATAGTAGTGACAGCAGC	p.Asn others(13): Show p.Asn857_Ser868del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	2689/4331	2569/3906	857/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615701	TGATAGCA others(20): Show TGATAGCAGTAATAGTAGTGACAGCAGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18948.hp1 NA18948.hp1	a0037 a0037	a0037c0056 a0037c0056	a0037c0056t0001 a0037c0056t0001	a0037c0056t0001g0002 a0037c0056t0001g0002	1	450	0.0022	-27	c.304 others(36): Show c.3040_3066delGATAGCAGTAATAGTAGTGACAGCAGC	p.Asp others(15): Show p.Asp1014_Ser1022del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3160/4331	3040/3906	1014/1301		chr4	TogoVar
DSPP_chr4_87603529_87621873	87615713	TAGTAGTG others(14): Show TAGTAGTGACAGCAGCAATAGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02615.hp1 HG02615.hp1	a0035 a0035	a0035c0055 a0035c0055	a0035c0055t0001 a0035c0055t0001	a0035c0055t0001g0012 a0035c0055t0001g0012	1	450	0.0022	-21	c.305 others(30): Show c.3055_3075delAGTGACAGCAGCAATAGCAGT	p.Ser others(15): Show p.Ser1019_Ser1025del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3175/4331	3055/3906	1019/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615729	AATAGCAG others(29): Show AATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGCG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00140.hp1 HG00408.hp1 HG00597.hp2 others(118): Show HG00140.hp1 HG00408.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01515.hp2 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp2 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02922.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18985.hp2 NA18987.hp2 NA18993.hp1 NA18998.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19075.hp2 NA19077.hp1 NA19079.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA20752.hp2 NA20805.hp1	a0003 a0006 a0008 others(11): Show a0003 a0006 a0008 a0012 a0013 a0018 a0021 a0028 a0029 a0044 a0047 a0048 a0051 a0052	a0003c0003 a0003c0063 a0003c0064 others(15): Show a0003c0003 a0003c0063 a0003c0064 a0006c0007 a0006c0008 a0008c0009 a0012c0018 a0012c0040 a0013c0014 a0018c0020 a0021c0025 a0028c0033 a0029c0034 a0044c0039 a0047c0066 a0048c0065 a0051c0044 a0052c0042	a0003c0003t0001 a0003c0063t0001 a0003c0064t0001 others(15): Show a0003c0003t0001 a0003c0063t0001 a0003c0064t0001 a0006c0007t0001 a0006c0008t0001 a0008c0009t0001 a0012c0018t0001 a0012c0040t0001 a0013c0014t0001 a0018c0020t0001 a0021c0025t0001 a0028c0033t0001 a0029c0034t0001 a0044c0039t0001 a0047c0066t0001 a0048c0065t0001 a0051c0044t0001 a0052c0042t0001	a0003c0003t0001g0001 a0003c0003t0001g0010 a0003c0003t0001g0039 others(26): Show a0003c0003t0001g0001 a0003c0003t0001g0010 a0003c0003t0001g0039 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0001g0077 a0003c0003t0001g0078 a0003c0063t0001g0079 a0003c0064t0001g0001 a0006c0007t0001g0001 a0006c0007t0001g0011 a0006c0007t0001g0070 a0006c0007t0001g0072 a0006c0008t0001g0001 a0008c0009t0001g0011 a0012c0018t0001g0014 a0012c0040t0001g0014 a0013c0014t0001g0001 a0018c0020t0001g0013 a0021c0025t0001g0002 a0028c0033t0001g0047 a0028c0033t0001g0048 a0029c0034t0001g0001 a0029c0034t0001g0010 a0044c0039t0001g0014 a0047c0066t0001g0001 a0048c0065t0001g0071 a0051c0044t0001g0006 a0052c0042t0001g0006	121	450	0.2689	-36	c.308 others(45): Show c.3085_3120delAACAGCAGTGACAGCAGCGATAGCAGTGACAGCAGC	p.Asn others(15): Show p.Asn1029_Ser1040del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3205/4331	3085/3906	1029/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615731	TAGCAGTG others(11): Show TAGCAGTGACAGCAGCAAC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00738.hp2 HG00738.hp2	a0026 a0026	a0026c0053 a0026c0053	a0026c0053t0004 a0026c0053t0004	a0026c0053t0004g0019 a0026c0053t0004g0019	1	450	0.0022	-18	c.308 others(27): Show c.3085_3102delAACAGCAGTGACAGCAGC	p.Asn others(15): Show p.Asn1029_Ser1034del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3205/4331	3085/3906	1029/1301	INFO_REALIGN_3_PRIME	chr4	TogoVar
DSPP_chr4_87603529_87621873	87615923	CAGTGACA others(77): Show CAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCG ACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03654.hp2 HG03654.hp2	a0040 a0040	a0040c0061 a0040c0061	a0040c0061t0001 a0040c0061t0001	a0040c0061t0001g0052 a0040c0061t0001g0052	1	450	0.0022	-84	c.326 others(93): Show c.3262_3345delAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGC AGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGT	p.Ser others(15): Show p.Ser1088_Ser1115del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3382/4331	3262/3906	1088/1301		chr4	TogoVar
DSPP_chr4_87603529_87621873	87615923	CAGTGACA others(104): Show CAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCG ACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGC AGCAATAGCAGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02145.hp1 NA19043.hp2 HG02145.hp1 NA19043.hp2	a0028 a0028	a0028c0033 a0028c0033	a0028c0033t0001 a0028c0033t0001	a0028c0033t0001g0047 a0028c0033t0001g0048 a0028c0033t0001g0047 a0028c0033t0001g0048	2	450	0.0044	-111	c.326 others(9): Show c.3262_3372del	p.Ser others(15): Show p.Ser1088_Ser1124del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3382/4331	3262/3906	1088/1301		chr4	TogoVar
DSPP_chr4_87603529_87621873	87616079	CAACAGCA others(2): Show CAACAGCAGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01891.hp1 HG02055.hp1 NA19043.hp1 others(2): Show HG01891.hp1 HG02055.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp2	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0001 a0016c0017t0001	a0016c0017t0001g0023 a0016c0017t0001g0055 a0016c0017t0001g0023 a0016c0017t0001g0055	5	450	0.0111	-9	c.341 others(18): Show c.3418_3426delAACAGCAGT	p.Asn others(15): Show p.Asn1140_Ser1142del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3538/4331	3418/3906	1140/1301		chr4	TogoVar
DUS1L_chr17_82052506_82070804	82060071	TCTC TCTC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01261.hp1 HG01891.hp1 HG02615.hp2 others(4): Show HG01261.hp1 HG01891.hp1 HG02615.hp2 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG03579.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0002 a0003c0005t0001 a0003c0005t0002	a0003c0005t0001g0051 a0003c0005t0001g0052 a0003c0005t0002g0013 a0003c0005t0001g0051 a0003c0005t0001g0052 a0003c0005t0002g0013	7	424	0.0165	-3	c.104 others(12): Show c.1042_1044delGAG	p.Glu others(6): Show p.Glu348del	DUS1L	ENSG00000169718.18	transcript	ENST00000306796.10	protein_coding	11/14	1246/2233	1042/1422	348/473		chr17	TogoVar
DYDC1_chr10_80331105_80361755	80352514	TCGGATCC others(50): Show TCGGATCCACTGGGCGAACTCTTGCCACTTCTGCAAGACCTTGAGTTAAA CAGGCCCC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00733.hp1 HG00733.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0173 a0003c0002t0001g0173	1	366	0.0027	-57	c.31_ others(62): Show c.31_87delGGGGCCTGTTTAACTCAAGGTCTTGCAGAAGTGGCAAGAG TTCGCCCAGTGGATCCG	p.Gly others(11): Show p.Gly11_Pro29del	DYDC1	ENSG00000170788.14	transcript	ENST00000372202.6	protein_coding	2/7	140/638	31/534	11/177		chr10	TogoVar
DYNC2I1_chr7_158851558_158951189	158871383	TGAA TGAA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00140.hp2 HG00408.hp1 HG00733.hp1 others(28): Show HG00140.hp2 HG00408.hp1 HG00733.hp1 HG01071.hp2 HG01175.hp2 HG01255.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG02015.hp1 HG02055.hp2 HG02155.hp1 HG02698.hp2 HG02922.hp1 HG02976.hp2 HG03209.hp2 HG03491.hp1 HG03491.hp2 HG03834.hp2 HG04184.hp2 HG04228.hp2 NA18951.hp1 NA18957.hp2 NA18964.hp2 NA19043.hp2 NA19060.hp2 NA19064.hp1 NA20805.hp1	a0003 a0005 a0010 others(1): Show a0003 a0005 a0010 a0011	a0003c0003 a0003c0009 a0003c0027 others(3): Show a0003c0003 a0003c0009 a0003c0027 a0005c0010 a0010c0028 a0011c0029	a0003c0003t0004 a0003c0003t0007 a0003c0009t0011 others(4): Show a0003c0003t0004 a0003c0003t0007 a0003c0009t0011 a0003c0027t0022 a0005c0010t0004 a0010c0028t0023 a0011c0029t0004	a0003c0003t0004g0238 a0003c0003t0004g0239 a0003c0003t0004g0242 others(28): Show a0003c0003t0004g0238 a0003c0003t0004g0239 a0003c0003t0004g0242 a0003c0003t0004g0244 a0003c0003t0004g0245 a0003c0003t0004g0246 a0003c0003t0004g0249 a0003c0003t0004g0252 a0003c0003t0004g0254 a0003c0003t0004g0255 a0003c0003t0004g0256 a0003c0003t0004g0257 a0003c0003t0004g0258 a0003c0003t0004g0259 a0003c0003t0004g0262 a0003c0003t0004g0264 a0003c0003t0004g0265 a0003c0003t0004g0266 a0003c0003t0004g0267 a0003c0003t0007g0240 a0003c0003t0007g0241 a0003c0003t0007g0243 a0003c0003t0007g0248 a0003c0003t0007g0260 a0003c0009t0011g0253 a0003c0009t0011g0261 a0003c0027t0022g0263 a0005c0010t0004g0247 a0005c0010t0004g0251 a0010c0028t0023g0237 a0011c0029t0004g0250	31	274	0.1131	-3	c.313 others(10): Show c.313_315delAAG	p.Lys others(6): Show p.Lys105del	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	3/25	491/3789	313/3201	105/1066	INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB5_chr17_29936634_30113452	29969182	AAAG AAAG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02055.hp1 HG02895.hp1 HG02896.hp1 others(6): Show HG02055.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG03130.hp1 HG03195.hp1 HG03453.hp1 NA19240.hp1 NA21309.hp1	a0004 a0007 a0004 a0007	a0004c0004 a0007c0009 a0004c0004 a0007c0009	a0004c0004t0002 a0007c0009t0002 a0004c0004t0002 a0007c0009t0002	a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 others(6): Show a0004c0004t0002g0015 a0004c0004t0002g0097 a0004c0004t0002g0098 a0004c0004t0002g0099 a0004c0004t0002g0104 a0004c0004t0002g0105 a0007c0009t0002g0100 a0007c0009t0002g0101 a0007c0009t0002g0102	9	248	0.0363	-3	c.589 others(10): Show c.589_591delAAG	p.Lys others(6): Show p.Lys197del	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	4/23	752/5103	589/4512	197/1503	INFO_REALIGN_3_PRIME	chr17	TogoVar
EID2_chr19_39533707_39545161	39539773	CTTCCCTG others(20): Show CTTCCCTGGCCGCCGCCGCCGCCGGGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0004 a0006c0010t0004	a0006c0010t0004g0000 a0006c0010t0004g0000	1	420	0.0024	-27	c.280 others(34): Show c.280_306delAGCCCGGCGGCGGCGGCGGCCAGGGAA	p.Ser others(12): Show p.Ser94_Glu102del	EID2	ENSG00000176396.11	transcript	ENST00000390658.4	protein_coding	1/1	388/1455	280/711	94/236		chr19	TogoVar
EIF2AK3_chr2_88551741_88632464	88627211	CCAG CCAG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(277): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0007 a0009	a0001c0001 a0001c0004 a0001c0015 others(10): Show a0001c0001 a0001c0004 a0001c0015 a0001c0016 a0001c0018 a0002c0002 a0002c0008 a0002c0010 a0004c0005 a0005c0006 a0006c0011 a0007c0009 a0009c0017	a0001c0001t0001 a0001c0004t0001 a0001c0004t0006 others(15): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0006 a0001c0004t0009 a0001c0015t0001 a0001c0016t0001 a0001c0018t0007 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0008t0001 a0002c0008t0004 a0002c0010t0001 a0004c0005t0001 a0005c0006t0001 a0006c0011t0001 a0007c0009t0001 a0009c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(254): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0235 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0004t0001g0092 a0001c0004t0001g0109 a0001c0004t0001g0110 a0001c0004t0001g0111 a0001c0004t0001g0113 a0001c0004t0001g0114 a0001c0004t0001g0115 a0001c0004t0001g0117 a0001c0004t0001g0118 a0001c0004t0001g0119 a0001c0004t0001g0120 a0001c0004t0001g0121 a0001c0004t0001g0122 a0001c0004t0001g0123 a0001c0004t0001g0124 a0001c0004t0001g0125 a0001c0004t0001g0126 a0001c0004t0001g0140 a0001c0004t0001g0152 a0001c0004t0001g0153 a0001c0004t0001g0154 a0001c0004t0001g0155 a0001c0004t0001g0156 a0001c0004t0001g0157 a0001c0004t0001g0158 a0001c0004t0001g0159 a0001c0004t0001g0160 a0001c0004t0001g0161 a0001c0004t0001g0162 a0001c0004t0001g0197 a0001c0004t0001g0198 a0001c0004t0001g0206 a0001c0004t0001g0212 a0001c0004t0001g0215 a0001c0004t0001g0217 a0001c0004t0001g0218 a0001c0004t0001g0219 a0001c0004t0001g0236 a0001c0004t0001g0237 a0001c0004t0001g0238 a0001c0004t0006g0151 a0001c0004t0009g0330 a0001c0015t0001g0112 a0001c0016t0001g0234 a0001c0018t0007g0329 a0002c0002t0001g0001 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0003g0333 a0002c0002t0003g0334 a0002c0002t0003g0335 a0002c0002t0003g0336 a0002c0002t0004g0270 a0002c0008t0001g0271 a0002c0008t0004g0255 a0002c0010t0001g0318 a0002c0010t0001g0321 a0004c0005t0001g0013 a0004c0005t0001g0014 a0004c0005t0001g0091 a0004c0005t0001g0147 a0004c0005t0001g0148 a0004c0005t0001g0149 a0004c0005t0001g0199 a0004c0005t0001g0201 a0004c0005t0001g0202 a0004c0005t0001g0203 a0004c0005t0001g0204 a0004c0005t0001g0205 a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 a0004c0005t0001g0223 a0004c0005t0001g0224 a0004c0005t0001g0225 a0004c0005t0001g0226 a0004c0005t0001g0227 a0004c0005t0001g0228 a0004c0005t0001g0229 a0004c0005t0001g0230 a0004c0005t0001g0231 a0004c0005t0001g0232 a0004c0005t0001g0233 a0004c0005t0001g0239 a0004c0005t0001g0240 a0004c0005t0001g0241 a0004c0005t0001g0242 a0004c0005t0001g0243 a0004c0005t0001g0245 a0004c0005t0001g0248 a0005c0006t0001g0213 a0005c0006t0001g0214 a0005c0006t0001g0216 a0006c0011t0001g0327 a0006c0011t0001g0328 a0007c0009t0001g0281 a0007c0009t0001g0289 a0009c0017t0001g0164	280	366	0.7650	-3	c.61_ others(8): Show c.61_63delCTG	p.Leu others(5): Show p.Leu21del	EIF2AK3	ENSG00000172071.15	transcript	ENST00000303236.9	protein_coding	1/17	253/4536	61/3351	21/1116		chr2	TogoVar
EIF4EBP3_chr5_140542662_140554576	140549035	TGGAGGAG others(8): Show TGGAGGAGCTGAAGGA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0002 a0002c0004t0001g0002	1	394	0.0025	-15	c.235 others(22): Show c.235_249delGAGGAGCTGAAGGAG	p.Glu others(11): Show p.Glu79_Glu83del	EIF4EBP3	ENSG00000243056.2	transcript	ENST00000310331.3	protein_coding	2/3	311/693	235/303	79/100	INFO_REALIGN_3_PRIME	chr5	TogoVar
EMC3_chr3_9957682_9991841	9986517	CTTGTTCC others(26): Show CTTGTTCCTGGGTGAGCTTCTTGTCGCTCTGCAG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0256 a0002c0007t0001g0256	1	322	0.0031	-33	c.112 others(40): Show c.112_144delCTGCAGAGCGACAAGAAGCTCACCCAGGAACAA	p.Leu others(11): Show p.Leu38_Gln48del	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	1/8	324/2353	112/786	38/261		chr3	TogoVar
EMCN_chr4_100390341_100523022	100480004	TAAC TAAC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00408.hp2 HG00597.hp2 HG01069.hp1 others(86): Show HG00408.hp2 HG00597.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02257.hp2 HG02300.hp1 HG02451.hp1 HG02602.hp1 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03139.hp1 HG03209.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp1 NA18747.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18955.hp2 NA18973.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA19001.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19083.hp2 NA19084.hp2 NA19088.hp2 NA20129.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(14): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0014 a0002c0002t0016 a0002c0002t0021 a0002c0002t0022 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0031 a0002c0002t0037 a0002c0006t0004	a0002c0002t0001g0002 a0002c0002t0001g0016 a0002c0002t0001g0017 others(85): Show a0002c0002t0001g0002 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0042 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0237 a0002c0002t0003g0047 a0002c0002t0003g0082 a0002c0002t0003g0083 a0002c0002t0004g0162 a0002c0002t0006g0053 a0002c0002t0007g0163 a0002c0002t0007g0164 a0002c0002t0007g0165 a0002c0002t0007g0166 a0002c0002t0007g0167 a0002c0002t0007g0168 a0002c0002t0009g0171 a0002c0002t0010g0089 a0002c0002t0010g0090 a0002c0002t0010g0145 a0002c0002t0010g0148 a0002c0002t0014g0094 a0002c0002t0014g0137 a0002c0002t0016g0110 a0002c0002t0016g0111 a0002c0002t0021g0061 a0002c0002t0022g0234 a0002c0002t0024g0097 a0002c0002t0025g0057 a0002c0002t0026g0049 a0002c0002t0031g0138 a0002c0002t0037g0123 a0002c0006t0004g0048	89	262	0.3397	-3	c.97_ others(8): Show c.97_99delGTT	p.Val others(5): Show p.Val33del	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	2/12	207/3966	97/786	33/261		chr4	TogoVar
EPPK1_chr8_143852324_143883467	143858961	CGGCGGCG others(3203): Show CGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGG GAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGG GCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGG CCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGG GTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCAC GTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGC GGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCT GGGCGCGGGCTCCCGGCCTCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTG GGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCA GCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGAC ACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAG GGCGCCCGAGCCTGGCATCACGCGGGCGTCGCGCAGGGCACAGCGCAGCT CCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATG TAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTA CGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGC TGGGGTGGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGG TAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCC GCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGA TGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAG GGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTG GATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCC TCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCC AGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTG GTAGATGCTCATCTTCTCCTGGTGGCCGGGCTGGTCCTTGGCGGGCACCA GGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCC ATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAG GGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCT GGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCC TCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCC GGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACG AGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCG CGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGC GGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCT CTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGC TCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGC CTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCA AGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCC CTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCC CCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCC GGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCC TGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGT CAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGG ACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGG AGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAG CTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCA TGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACG TACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTC GCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCC GGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACG CCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGAC GATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGT AGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCC TGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAG CCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCT CCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCC TGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCAC CAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGT CCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGC AGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACAC CTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCT CCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCG CCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTA CGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCC CGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGG GCGGCGGCGGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02027.hp1 HG02027.hp1	a0251 a0251	a0251c0084 a0251c0084	a0251c0084t0005 a0251c0084t0005	a0251c0084t0005g0277 a0251c0084t0005g0277	1	424	0.0024	-3210	c.110 others(11): Show c.11083_14292del	p.Thr others(15): Show p.Thr3695_Ala4764del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	14367/16005	11083/15267	3695/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143859204	CGCTCACG others(1601): Show CGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCC CGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCG GGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCTCGGCCCGGGCCT GGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCC ACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTC CTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGC CCTGGAGGGCGCCCGAGCCTGGCATCACGCGGGCGTCGCGCAGGGCACAG CGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTG CAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCT GCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTG TCGTCGCTGGGGTGGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCC GCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGA TGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCC CGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCC GGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCT TCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACC GACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTG CGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACA TGGCCTGGTAGATGCTCATCTTCTCCTGGTGGCCGGGCTGGTCCTTGGCG GGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGAC CGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGT CCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCG GACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTC CGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCA GGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTC AGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAA CTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGC GGCGGGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCC TGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGG CCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCC CGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGC GCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCG GGCGGCCCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02280.hp1 HG02970.hp2 NA18747.hp2 HG02280.hp1 HG02970.hp2 NA18747.hp2	a0074 a0147 a0160 a0074 a0147 a0160	a0074c0335 a0147c0304 a0160c0317 a0074c0335 a0147c0304 a0160c0317	a0074c0335t0002 a0147c0304t0001 a0160c0317t0003 a0074c0335t0002 a0147c0304t0001 a0160c0317t0003	a0074c0335t0002g0307 a0147c0304t0001g0055 a0160c0317t0003g0141 a0074c0335t0002g0307 a0147c0304t0001g0055 a0160c0317t0003g0141	3	424	0.0071	-1608	c.124 others(11): Show c.12442_14049del	p.Arg others(15): Show p.Arg4148_Ser4683del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	14124/16005	12442/15267	4148/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143859204	CGCTCACG others(6404): Show CGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCC CGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCG GGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCTCGGCCCGGGCCT GGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCC ACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTC CTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGC CCTGGAGGGCGCCCGAGCCTGGCATCACGCGGGCGTCGCGCAGGGCACAG CGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTG CAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCT GCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTG TCGTCGCTGGGGTGGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCC GCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGA TGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCC CGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCC GGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCT TCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACC GACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTG CGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACA TGGCCTGGTAGATGCTCATCTTCTCCTGGTGGCCGGGCTGGTCCTTGGCG GGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGAC CGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGT CCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCG GACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTC CGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCA GGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTC AGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAA CTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGC GGCGGGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCC TGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGG CCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCC CGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGC GCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCG GGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCG CGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGG GCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGC CTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCT CCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGG TCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTG GCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCAC AGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGC TGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAG CTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGG TGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAG CCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTC GATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCT CCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGC CCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAG CTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCA CCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCC TGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCA CATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGG CGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTG ACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAG GTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGG CGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCC TCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCC CAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGC TCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGG AACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTG GCGGCGGGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCC CCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCT GGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGC CCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCA GCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCC CGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCAC CGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCA GGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGG GCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTC CTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCC GGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTC TGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGC ACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCA GCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGC AGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTT GGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGT AGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGG TCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTG CTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCT GCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGC AGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTC CACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCG CCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTC CACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTT GGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCT TGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCC AGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGA GGCGGACACCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCT CCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGG CCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTC GCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCT GGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCC TGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCC CTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTG GCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGG GCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGG CAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGG CCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGC CCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTC CCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGG CCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACG GTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTC GGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCT GGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGC AGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAG CATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCA CGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCG TCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCG CTGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGA CGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGG ACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGT GTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCT CCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGAC AGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGC CTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGG CCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGC ACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGA GTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCC GCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGAC ACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGT CTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGG CGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGG TACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTG CCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGC GGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCC CCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGC TGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGG CCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTC AGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTC CCGGGCGGCCCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01081.hp1 HG02071.hp1 HG01081.hp1 HG02071.hp1	a0245 a0268 a0245 a0268	a0245c0110 a0268c0122 a0245c0110 a0268c0122	a0245c0110t0002 a0268c0122t0002 a0245c0110t0002 a0268c0122t0002	a0245c0110t0002g0172 a0268c0122t0002g0299 a0245c0110t0002g0172 a0268c0122t0002g0299	2	424	0.0047	-6411	c.763 others(10): Show c.7639_14049del	p.Arg others(15): Show p.Arg2547_Ser4683del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	14124/16005	7639/15267	2547/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143859336	CGGCCTCG others(5): Show CGGCCTCGGCCCG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0040 a0040	a0040c0018 a0040c0018	a0040c0018t0002 a0040c0018t0002	a0040c0018t0002g0026 a0040c0018t0002g0026	2	424	0.0047	-12	c.139 others(23): Show c.13906_13917delCGGGCCGAGGCC	p.Arg others(15): Show p.Arg4636_Ala4639del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	13992/16005	13906/15267	4636/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143859717	GGGCCAGG others(1595): Show GGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCC ACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGT GGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGT CCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCG GTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTC GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT GCTCATCTTCTCCTGGTGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCC TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATG ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGC GGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCT GGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGC GGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTC GGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCA GGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTC ACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAG GCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGT CTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCC TGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGT GCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCT CGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCG CCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTC GCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGA GCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTG AGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGG GTC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02055.hp2 HG02055.hp2	a0101 a0101	a0101c0168 a0101c0168	a0101c0168t0005 a0101c0168t0005	a0101c0168t0005g0238 a0101c0168t0005g0238	1	424	0.0024	-1602	c.119 others(11): Show c.11935_13536del	p.Asp others(15): Show p.Asp3979_Ala4512del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	13611/16005	11935/15267	3979/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143860560	CGGCGGCG others(2): Show CGGCGGCGGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01192.hp1 HG02300.hp1 HG02559.hp1 others(29): Show HG01192.hp1 HG02300.hp1 HG02559.hp1 HG02572.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18906.hp2 NA18986.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp1	a0015 a0024 a0025 others(24): Show a0015 a0024 a0025 a0029 a0056 a0057 a0058 a0060 a0063 a0068 a0103 a0104 a0110 a0111 a0112 a0113 a0114 a0115 a0117 a0120 a0124 a0132 a0162 a0202 a0209 a0224 a0225	a0015c0041 a0015c0316 a0024c0029 others(26): Show a0015c0041 a0015c0316 a0024c0029 a0025c0161 a0025c0162 a0029c0040 a0056c0158 a0057c0153 a0058c0155 a0060c0154 a0063c0159 a0068c0146 a0103c0170 a0104c0167 a0110c0046 a0111c0047 a0112c0045 a0113c0048 a0114c0173 a0115c0172 a0117c0051 a0120c0332 a0124c0327 a0132c0286 a0162c0284 a0202c0218 a0209c0214 a0224c0204 a0225c0315	a0015c0041t0003 a0015c0041t0013 a0015c0316t0003 others(28): Show a0015c0041t0003 a0015c0041t0013 a0015c0316t0003 a0024c0029t0001 a0025c0161t0001 a0025c0162t0001 a0029c0040t0001 a0029c0040t0004 a0056c0158t0001 a0057c0153t0001 a0058c0155t0001 a0060c0154t0001 a0063c0159t0004 a0068c0146t0003 a0103c0170t0005 a0104c0167t0001 a0110c0046t0010 a0111c0047t0010 a0112c0045t0010 a0113c0048t0010 a0114c0173t0001 a0115c0172t0001 a0117c0051t0004 a0120c0332t0003 a0124c0327t0005 a0132c0286t0004 a0162c0284t0002 a0202c0218t0002 a0209c0214t0010 a0224c0204t0005 a0225c0315t0003	a0015c0041t0003g0140 a0015c0041t0013g0097 a0015c0316t0003g0227 others(28): Show a0015c0041t0003g0140 a0015c0041t0013g0097 a0015c0316t0003g0227 a0024c0029t0001g0007 a0025c0161t0001g0196 a0025c0162t0001g0033 a0029c0040t0001g0060 a0029c0040t0004g0056 a0056c0158t0001g0048 a0057c0153t0001g0049 a0058c0155t0001g0047 a0060c0154t0001g0046 a0063c0159t0004g0059 a0068c0146t0003g0213 a0103c0170t0005g0240 a0104c0167t0001g0208 a0110c0046t0010g0071 a0111c0047t0010g0072 a0112c0045t0010g0070 a0113c0048t0010g0216 a0114c0173t0001g0064 a0115c0172t0001g0221 a0117c0051t0004g0205 a0120c0332t0003g0252 a0124c0327t0005g0222 a0132c0286t0004g0054 a0162c0284t0002g0096 a0202c0218t0002g0091 a0209c0214t0010g0212 a0224c0204t0005g0073 a0225c0315t0003g0139	32	424	0.0755	-9	c.126 others(20): Show c.12685_12693delACCGCCGCC	p.Thr others(15): Show p.Thr4229_Ala4231del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	12768/16005	12685/15267	4229/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143860569	TGGCGGCG others(4796): Show TGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGG GAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGG GCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGG CCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGG GTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCAC GTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGC GGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCT GGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTG GGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGC CCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCG CGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCC CGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGC TCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGC CCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAG GTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGT CGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCC ACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGT GGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGT CCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCG GTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTC GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT GCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCC TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATG ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGC GGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCT GGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGC GGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTC GGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCA GGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTC ACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAG GCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGT CTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCC TGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGT GCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCT CGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCG CCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTC GCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGA GCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTG AGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGG GTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGG CCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCC GTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAG GTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGT CGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATC TCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAG GTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCA GCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAG ATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGAC GCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCT CCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTC TCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCA CCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGA TGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCC GCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGA GAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCT GCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCG GCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCG CCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGC GCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCC TCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCC CGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGC CGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCC ACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCG CGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCA GCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAGCGTGCCCGCC CGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTA GAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGC CTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGC TGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGT GTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCT CGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCC AGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGTAGGCCACGTC CACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGA TCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTC TGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTA GCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGC CCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGC ACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAG GGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCA TCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCG ATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCAC CTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGC CCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGG CCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCGATGACCCG GGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCT GGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGG ACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTC CATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGG CGGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2	a0027 a0152 a0027 a0152	a0027c0042 a0152c0293 a0027c0042 a0152c0293	a0027c0042t0001 a0027c0042t0004 a0152c0293t0001 a0027c0042t0001 a0027c0042t0004 a0152c0293t0001	a0027c0042t0001g0035 a0027c0042t0004g0034 a0152c0293t0001g0102 a0027c0042t0001g0035 a0027c0042t0004g0034 a0152c0293t0001g0102	3	424	0.0071	-4803	c.788 others(10): Show c.7882_12684del	p.Ala others(15): Show p.Ala2628_Ala4228del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	12759/16005	7882/15267	2628/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143861916	GCCTCAGG others(1595): Show GCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCG ATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGC CGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGG AGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGC TGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGC GGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTC GCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCC CGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTC CTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGT CCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTG CTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCG GAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGG GGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGG GCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAG CGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACA CCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGG GCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTC CTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGT AGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTAC GTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCT GGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGT AGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCG CCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGAT GAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGG GGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGG ATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCT CAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCA GCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGG TAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAG GACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCA TCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGG GTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTG GCA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18997.hp2 NA18997.hp2	a0234 a0234	a0234c0065 a0234c0065	a0234c0065t0005 a0234c0065t0005	a0234c0065t0005g0291 a0234c0065t0005g0291	1	424	0.0024	-1602	c.973 others(10): Show c.9736_11337del	p.Cys others(15): Show p.Cys3246_Arg3779del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	11412/16005	9736/15267	3246/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143862159	GGGCGGCG others(3191): Show GGGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGG CCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCC TGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGG GGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCG GGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGC GGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGC GCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCC TCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTG GGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCA CGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCC TCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCC CTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGC GCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGC AGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTG CACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGT CGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCG CGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGAT GACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCC GGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCG GTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTT CTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCG ACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGC GCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACAT GGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGG GCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACC GAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTC CCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGG ACACCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCC GTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAG GGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCA GGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAAC TGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCG GCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTC GCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCC CGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTC CTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGT CCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTG CTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCG GAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGG GGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGG GCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAG CGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACA CCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGG GCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTC CTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGT AGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTAC GTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCT GGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGT AGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCG CCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGAT GAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGG GGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGG ATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCT CAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCA GCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGG TAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAG GACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCA TCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGG GTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTG GCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCT CGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCG GCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGA GGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGC GCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG00609.hp1 HG01099.hp1 others(14): Show HG00099.hp1 HG00609.hp1 HG01099.hp1 HG02155.hp1 HG02602.hp1 HG02738.hp2 HG03239.hp2 HG03490.hp1 HG03669.hp1 HG03831.hp2 HG04184.hp1 NA18963.hp2 NA18970.hp2 NA18975.hp2 NA18979.hp1 NA19074.hp2 NA19081.hp2	a0039 a0042 a0046 others(10): Show a0039 a0042 a0046 a0047 a0051 a0211 a0216 a0240 a0241 a0259 a0285 a0289 a0292	a0039c0023 a0042c0088 a0042c0092 others(11): Show a0039c0023 a0042c0088 a0042c0092 a0046c0026 a0047c0025 a0051c0345 a0211c0262 a0216c0264 a0240c0078 a0241c0079 a0259c0097 a0285c0124 a0289c0126 a0292c0125	a0039c0023t0002 a0039c0023t0007 a0042c0088t0002 others(12): Show a0039c0023t0002 a0039c0023t0007 a0042c0088t0002 a0042c0092t0002 a0046c0026t0002 a0047c0025t0002 a0051c0345t0002 a0211c0262t0002 a0216c0264t0002 a0240c0078t0002 a0241c0079t0002 a0259c0097t0002 a0285c0124t0007 a0289c0126t0002 a0292c0125t0002	a0039c0023t0002g0278 a0039c0023t0007g0346 a0042c0088t0002g0371 others(13): Show a0039c0023t0002g0278 a0039c0023t0007g0346 a0042c0088t0002g0371 a0042c0092t0002g0377 a0046c0026t0002g0302 a0046c0026t0002g0347 a0047c0025t0002g0024 a0051c0345t0002g0280 a0211c0262t0002g0329 a0216c0264t0002g0184 a0240c0078t0002g0038 a0241c0079t0002g0089 a0259c0097t0002g0334 a0285c0124t0007g0309 a0289c0126t0002g0300 a0292c0125t0002g0279	17	424	0.0401	-3198	c.789 others(10): Show c.7897_11094del	p.Ala others(15): Show p.Ala2633_Ala3698del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	11169/16005	7897/15267	2633/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143862162	CGGCGGCG others(2): Show CGGCGGCGGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02165.hp1 HG02280.hp1 HG02280.hp2 others(40): Show HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp2 NA18957.hp1 NA18971.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19080.hp1 NA19084.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0010 a0011 a0015 others(31): Show a0010 a0011 a0015 a0025 a0029 a0037 a0061 a0062 a0068 a0100 a0104 a0110 a0111 a0112 a0113 a0114 a0115 a0119 a0120 a0124 a0128 a0132 a0143 a0144 a0147 a0160 a0161 a0209 a0219 a0224 a0225 a0238 a0239 a0302	a0010c0015 a0010c0050 a0011c0007 others(35): Show a0010c0015 a0010c0050 a0011c0007 a0015c0041 a0015c0316 a0025c0161 a0025c0162 a0029c0040 a0037c0075 a0037c0143 a0061c0157 a0062c0156 a0068c0146 a0100c0049 a0104c0167 a0110c0046 a0111c0047 a0112c0045 a0113c0048 a0114c0173 a0115c0172 a0119c0053 a0120c0332 a0124c0327 a0128c0277 a0132c0286 a0143c0308 a0144c0307 a0147c0304 a0160c0317 a0161c0306 a0209c0214 a0219c0265 a0224c0204 a0225c0315 a0238c0077 a0239c0076 a0302c0066	a0010c0015t0001 a0010c0050t0001 a0011c0007t0001 others(37): Show a0010c0015t0001 a0010c0050t0001 a0011c0007t0001 a0015c0041t0003 a0015c0041t0013 a0015c0316t0003 a0025c0161t0001 a0025c0162t0001 a0029c0040t0001 a0029c0040t0004 a0037c0075t0002 a0037c0143t0002 a0061c0157t0004 a0062c0156t0004 a0068c0146t0003 a0100c0049t0010 a0104c0167t0001 a0110c0046t0010 a0111c0047t0010 a0112c0045t0010 a0113c0048t0010 a0114c0173t0001 a0115c0172t0001 a0119c0053t0004 a0120c0332t0003 a0124c0327t0005 a0128c0277t0022 a0132c0286t0004 a0143c0308t0001 a0144c0307t0001 a0147c0304t0001 a0160c0317t0003 a0161c0306t0005 a0209c0214t0010 a0219c0265t0002 a0224c0204t0005 a0225c0315t0003 a0238c0077t0002 a0239c0076t0002 a0302c0066t0002	a0010c0015t0001g0202 a0010c0015t0001g0203 a0010c0050t0001g0204 others(38): Show a0010c0015t0001g0202 a0010c0015t0001g0203 a0010c0050t0001g0204 a0011c0007t0001g0005 a0015c0041t0003g0140 a0015c0041t0013g0097 a0015c0316t0003g0227 a0025c0161t0001g0196 a0025c0162t0001g0033 a0029c0040t0001g0060 a0029c0040t0004g0056 a0037c0075t0002g0316 a0037c0143t0002g0384 a0061c0157t0004g0237 a0062c0156t0004g0241 a0068c0146t0003g0213 a0100c0049t0010g0040 a0104c0167t0001g0208 a0110c0046t0010g0071 a0111c0047t0010g0072 a0112c0045t0010g0070 a0113c0048t0010g0216 a0114c0173t0001g0064 a0115c0172t0001g0221 a0119c0053t0004g0207 a0120c0332t0003g0252 a0124c0327t0005g0222 a0128c0277t0022g0032 a0132c0286t0004g0054 a0143c0308t0001g0387 a0144c0307t0001g0058 a0147c0304t0001g0055 a0160c0317t0003g0141 a0161c0306t0005g0272 a0209c0214t0010g0212 a0219c0265t0002g0129 a0224c0204t0005g0073 a0225c0315t0003g0139 a0238c0077t0002g0293 a0239c0076t0002g0292 a0302c0066t0002g0383	43	424	0.1014	-9	c.110 others(20): Show c.11083_11091delACCGCCGCC	p.Thr others(15): Show p.Thr3695_Ala3697del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	11166/16005	11083/15267	3695/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143862171	TGGCGGCG others(2): Show TGGCGGCGGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18972.hp1 NA18974.hp1 NA19084.hp2 NA18972.hp1 NA18974.hp1 NA19084.hp2	a0075 a0078 a0079 a0075 a0078 a0079	a0075c0199 a0078c0177 a0079c0342 a0075c0199 a0078c0177 a0079c0342	a0075c0199t0003 a0078c0177t0003 a0079c0342t0003 a0075c0199t0003 a0078c0177t0003 a0079c0342t0003	a0075c0199t0003g0340 a0078c0177t0003g0339 a0079c0342t0003g0338 a0075c0199t0003g0340 a0078c0177t0003g0339 a0079c0342t0003g0338	3	424	0.0071	-9	c.110 others(20): Show c.11074_11082delGCCGCCGCC	p.Ala others(15): Show p.Ala3692_Ala3694del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	11157/16005	11074/15267	3692/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143862171	TGGCGGCG others(1586): Show TGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGG GAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGG GCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGG CCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGG GTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCAC GTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGC GGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCT GGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTG GGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGC CCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCG CGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCC CGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGC TCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGC CCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAG GTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGT CGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCC ACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGT GGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGT CCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCG GTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTC GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT GCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCACC TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATG ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19074.hp1 NA19074.hp1	a0195 a0195	a0195c0231 a0195c0231	a0195c0231t0001 a0195c0231t0001	a0195c0231t0001g0177 a0195c0231t0001g0177	1	424	0.0024	-1593	c.949 others(10): Show c.9490_11082del	p.Ala others(15): Show p.Ala3164_Ala3694del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	11157/16005	9490/15267	3164/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143862171	TGGCGGCG others(3194): Show TGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGG GAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGG GCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGG CCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGG GTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCAC GTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGC GGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCT GGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTG GGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGC CCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCG CGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCC CGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGC TCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGC CCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAG GTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGT CGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCC ACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGT GGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGT CCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCG GTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTC GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT GCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCACC TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATG ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGC GGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCC CCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGC CAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTC GATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCG AGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCG GACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCAC CTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCG GGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGC AGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAGCGTGCCCGCCCG GTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGA AGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCT GGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTG GTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGT CCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCG TGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAG GACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGTAGGCCACGTCCA CGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATC TGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTG CATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGC CGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCC ACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCAC GGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGG CCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATC TTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGAT GCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCT CCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCC AGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCC GCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCGATGACCCGGG TGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGG GCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGAC GTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCA TGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCG GC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01257.hp2 HG01258.hp1 NA18947.hp2 others(2): Show HG01257.hp2 HG01258.hp1 NA18947.hp2 NA18952.hp1 NA19012.hp2	a0006 a0204 a0006 a0204	a0006c0003 a0204c0222 a0006c0003 a0204c0222	a0006c0003t0001 a0006c0003t0004 a0204c0222t0001 a0006c0003t0001 a0006c0003t0004 a0204c0222t0001	a0006c0003t0001g0011 a0006c0003t0001g0385 a0006c0003t0004g0230 others(1): Show a0006c0003t0001g0011 a0006c0003t0001g0385 a0006c0003t0004g0230 a0204c0222t0001g0231	5	424	0.0118	-3201	c.788 others(10): Show c.7882_11082del	p.Ala others(15): Show p.Ala2628_Ala3694del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	11157/16005	7882/15267	2628/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143863761	GGGCGGCG others(1589): Show GGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGC TGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCG CGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCT CGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCC AGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCT CACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGA GGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGG TCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGC CTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAGCG TGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACC TCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGC GCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCT CGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAG AGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGT GAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGG GGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGTAG GCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCC CGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGA GGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGG TCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGAT CTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCA GGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGC AGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTA GATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGA CGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATC TCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGT CTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGC GCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCG ATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGC CGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGG AGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGC TGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18995.hp1 NA19011.hp2 NA18995.hp1 NA19011.hp2	a0263 a0281 a0263 a0281	a0263c0100 a0281c0132 a0263c0100 a0281c0132	a0263c0100t0002 a0281c0132t0002 a0263c0100t0002 a0281c0132t0002	a0263c0100t0002g0284 a0281c0132t0002g0303 a0263c0100t0002g0284 a0281c0132t0002g0303	2	424	0.0047	-1596	c.789 others(9): Show c.7897_9492del	p.Ala others(15): Show p.Ala2633_Ala3164del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	9567/16005	7897/15267	2633/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143863761	GGGCGGCG others(1601): Show GGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGC TGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCG CGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCT CGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCC AGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCT CACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGA GGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGG TCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGC CTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAGCG TGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACC TCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGC GCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCT CGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAG AGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGT GAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGG GGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGTAG GCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCC CGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGA GGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGG TCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGAT CTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCA GGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGC AGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTA GATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGA CGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATC TCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGT CTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGC GCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCG ATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGC CGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGG AGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGC TGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGC GGCGGCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01358.hp2 HG01978.hp2 HG01981.hp2 others(4): Show HG01358.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02300.hp2 NA19009.hp2 NA20300.hp1	a0005 a0088 a0169 others(1): Show a0005 a0088 a0169 a0252	a0005c0004 a0088c0179 a0169c0217 others(1): Show a0005c0004 a0088c0179 a0169c0217 a0252c0107	a0005c0004t0001 a0088c0179t0001 a0169c0217t0001 others(1): Show a0005c0004t0001 a0088c0179t0001 a0169c0217t0001 a0252c0107t0001	a0005c0004t0001g0004 a0005c0004t0001g0267 a0088c0179t0001g0341 others(2): Show a0005c0004t0001g0004 a0005c0004t0001g0267 a0088c0179t0001g0341 a0169c0217t0001g0233 a0252c0107t0001g0171	7	424	0.0165	-1608	c.788 others(9): Show c.7885_9492del	p.Ala others(15): Show p.Ala2629_Ala3164del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	9567/16005	7885/15267	2629/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143865354	GGGC GGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp2 HG00323.hp2 HG00597.hp1 others(109): Show HG00099.hp2 HG00323.hp2 HG00597.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02074.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02523.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03017.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18960.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18978.hp1 NA18983.hp2 NA18990.hp1 NA18991.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19065.hp1 NA19080.hp1 NA19084.hp1 NA19085.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0007 a0008 a0009 others(82): Show a0007 a0008 a0009 a0014 a0021 a0022 a0023 a0026 a0030 a0033 a0034 a0037 a0038 a0040 a0043 a0044 a0045 a0049 a0053 a0074 a0089 a0090 a0091 a0094 a0095 a0105 a0154 a0155 a0156 a0157 a0158 a0159 a0162 a0163 a0164 a0165 a0206 a0207 a0208 a0210 a0215 a0217 a0218 a0219 a0230 a0232 a0233 a0235 a0236 a0238 a0244 a0253 a0254 a0255 a0256 a0258 a0260 a0261 a0262 a0264 a0265 a0272 a0273 a0274 a0275 a0276 a0277 a0278 a0279 a0280 a0282 a0283 a0284 a0286 a0287 a0288 a0290 a0291 a0293 a0295 a0296 a0302 a0303 a0304 a0306	a0007c0013 a0007c0273 a0008c0017 others(96): Show a0007c0013 a0007c0273 a0008c0017 a0008c0021 a0009c0174 a0009c0178 a0009c0187 a0014c0044 a0014c0280 a0021c0006 a0022c0024 a0022c0094 a0023c0095 a0023c0096 a0023c0102 a0026c0185 a0026c0186 a0030c0257 a0030c0258 a0033c0213 a0033c0268 a0034c0260 a0034c0261 a0037c0075 a0037c0143 a0038c0019 a0040c0018 a0043c0085 a0043c0089 a0044c0020 a0045c0027 a0049c0028 a0053c0144 a0074c0335 a0089c0183 a0090c0184 a0091c0180 a0094c0181 a0095c0196 a0105c0338 a0154c0291 a0155c0292 a0156c0290 a0157c0278 a0158c0289 a0159c0288 a0162c0284 a0163c0313 a0164c0276 a0165c0207 a0206c0221 a0207c0219 a0208c0220 a0210c0263 a0215c0269 a0217c0267 a0218c0266 a0219c0265 a0230c0337 a0232c0057 a0233c0142 a0235c0068 a0236c0067 a0238c0077 a0244c0111 a0253c0080 a0254c0081 a0255c0141 a0256c0082 a0258c0106 a0260c0103 a0261c0105 a0262c0104 a0264c0099 a0265c0101 a0272c0091 a0273c0090 a0274c0135 a0275c0120 a0276c0133 a0277c0121 a0278c0074 a0279c0087 a0280c0134 a0282c0140 a0283c0130 a0284c0131 a0286c0061 a0287c0129 a0288c0086 a0290c0128 a0291c0127 a0293c0136 a0295c0117 a0296c0118 a0302c0066 a0303c0062 a0304c0064 a0306c0058	a0007c0013t0002 a0007c0013t0006 a0007c0013t0012 others(101): Show a0007c0013t0002 a0007c0013t0006 a0007c0013t0012 a0007c0273t0002 a0008c0017t0002 a0008c0021t0002 a0009c0174t0014 a0009c0178t0014 a0009c0187t0014 a0014c0044t0002 a0014c0280t0006 a0021c0006t0002 a0021c0006t0007 a0022c0024t0002 a0022c0094t0006 a0023c0095t0002 a0023c0096t0002 a0023c0102t0002 a0026c0185t0002 a0026c0186t0002 a0030c0257t0002 a0030c0258t0002 a0033c0213t0002 a0033c0268t0006 a0034c0260t0002 a0034c0261t0006 a0037c0075t0002 a0037c0143t0002 a0038c0019t0002 a0038c0019t0012 a0040c0018t0002 a0043c0085t0026 a0043c0089t0002 a0044c0020t0002 a0045c0027t0002 a0045c0027t0006 a0049c0028t0002 a0053c0144t0002 a0074c0335t0002 a0089c0183t0002 a0090c0184t0007 a0091c0180t0002 a0094c0181t0007 a0095c0196t0002 a0105c0338t0007 a0154c0291t0002 a0155c0292t0002 a0156c0290t0002 a0157c0278t0002 a0158c0289t0002 a0159c0288t0023 a0162c0284t0002 a0163c0313t0002 a0164c0276t0006 a0165c0207t0002 a0206c0221t0002 a0207c0219t0006 a0208c0220t0002 a0210c0263t0002 a0215c0269t0002 a0217c0267t0002 a0218c0266t0002 a0219c0265t0002 a0230c0337t0002 a0232c0057t0002 a0233c0142t0002 a0235c0068t0002 a0236c0067t0002 a0238c0077t0002 a0244c0111t0002 a0253c0080t0007 a0254c0081t0002 a0255c0141t0002 a0256c0082t0002 a0258c0106t0002 a0260c0103t0002 a0261c0105t0002 a0262c0104t0002 a0264c0099t0007 a0265c0101t0025 a0272c0091t0002 a0273c0090t0007 a0274c0135t0007 a0275c0120t0002 a0276c0133t0007 a0277c0121t0002 a0278c0074t0002 a0279c0087t0002 a0280c0134t0006 a0282c0140t0002 a0283c0130t0002 a0284c0131t0002 a0286c0061t0002 a0287c0129t0002 a0288c0086t0002 a0290c0128t0001 a0291c0127t0002 a0293c0136t0002 a0295c0117t0002 a0296c0118t0002 a0302c0066t0002 a0303c0062t0006 a0304c0064t0006 a0306c0058t0002	a0007c0013t0002g0134 a0007c0013t0006g0133 a0007c0013t0012g0132 others(102): Show a0007c0013t0002g0134 a0007c0013t0006g0133 a0007c0013t0012g0132 a0007c0273t0002g0131 a0008c0017t0002g0014 a0008c0021t0002g0015 a0009c0174t0014g0357 a0009c0178t0014g0350 a0009c0187t0014g0229 a0014c0044t0002g0018 a0014c0280t0006g0379 a0021c0006t0002g0028 a0021c0006t0007g0037 a0022c0024t0002g0153 a0022c0024t0002g0169 a0022c0094t0006g0152 a0023c0095t0002g0294 a0023c0096t0002g0318 a0023c0102t0002g0342 a0026c0185t0002g0354 a0026c0186t0002g0355 a0030c0257t0002g0243 a0030c0258t0002g0244 a0033c0213t0002g0118 a0033c0268t0006g0077 a0034c0260t0002g0128 a0034c0261t0006g0183 a0037c0075t0002g0316 a0037c0143t0002g0384 a0038c0019t0002g0245 a0038c0019t0012g0163 a0040c0018t0002g0026 a0043c0085t0026g0165 a0043c0089t0002g0042 a0044c0020t0002g0020 a0045c0027t0002g0363 a0045c0027t0006g0362 a0049c0028t0002g0016 a0053c0144t0002g0349 a0074c0335t0002g0307 a0089c0183t0002g0352 a0090c0184t0007g0353 a0091c0180t0002g0374 a0094c0181t0007g0378 a0095c0196t0002g0356 a0105c0338t0007g0287 a0154c0291t0002g0193 a0155c0292t0002g0186 a0156c0290t0002g0185 a0157c0278t0002g0067 a0158c0289t0002g0281 a0159c0288t0023g0136 a0162c0284t0002g0096 a0163c0313t0002g0190 a0164c0276t0006g0263 a0165c0207t0002g0336 a0206c0221t0002g0265 a0207c0219t0006g0345 a0208c0220t0002g0312 a0210c0263t0002g0110 a0215c0269t0002g0111 a0217c0267t0002g0130 a0218c0266t0002g0330 a0219c0265t0002g0129 a0230c0337t0002g0361 a0232c0057t0002g0154 a0233c0142t0002g0030 a0235c0068t0002g0156 a0236c0067t0002g0155 a0238c0077t0002g0293 a0244c0111t0002g0173 a0253c0080t0007g0161 a0254c0081t0002g0162 a0255c0141t0002g0232 a0256c0082t0002g0164 a0258c0106t0002g0170 a0260c0103t0002g0282 a0261c0105t0002g0286 a0262c0104t0002g0285 a0264c0099t0007g0168 a0265c0101t0025g0288 a0272c0091t0002g0167 a0273c0090t0007g0372 a0274c0135t0007g0364 a0275c0120t0002g0174 a0276c0133t0007g0322 a0277c0121t0002g0175 a0278c0074t0002g0195 a0279c0087t0002g0166 a0280c0134t0006g0044 a0282c0140t0002g0305 a0283c0130t0002g0310 a0284c0131t0002g0311 a0286c0061t0002g0315 a0287c0129t0002g0290 a0288c0086t0002g0381 a0290c0128t0001g0301 a0291c0127t0002g0242 a0293c0136t0002g0344 a0295c0117t0002g0323 a0296c0118t0002g0320 a0302c0066t0002g0383 a0303c0062t0006g0081 a0304c0064t0006g0276 a0306c0058t0002g0234	112	424	0.2642	-3	c.789 others(12): Show c.7897_7899delGCC	p.Ala others(7): Show p.Ala2633del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	7974/16005	7897/15267	2633/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143865354	GGGCGGC GGGCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(206): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(143): Show a0001 a0002 a0004 a0012 a0016 a0017 a0018 a0019 a0024 a0025 a0028 a0029 a0031 a0032 a0036 a0041 a0048 a0050 a0052 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0071 a0072 a0077 a0080 a0081 a0083 a0084 a0085 a0086 a0087 a0098 a0099 a0100 a0101 a0102 a0103 a0107 a0108 a0109 a0110 a0111 a0112 a0113 a0114 a0116 a0117 a0118 a0119 a0121 a0122 a0124 a0125 a0126 a0127 a0130 a0131 a0132 a0133 a0135 a0136 a0137 a0138 a0139 a0140 a0141 a0142 a0143 a0144 a0145 a0146 a0147 a0148 a0149 a0153 a0161 a0167 a0168 a0173 a0174 a0175 a0176 a0177 a0178 a0179 a0180 a0181 a0182 a0183 a0184 a0185 a0186 a0187 a0188 a0189 a0190 a0191 a0192 a0193 a0194 a0195 a0196 a0197 a0198 a0199 a0200 a0201 a0205 a0209 a0212 a0213 a0214 a0220 a0221 a0222 a0223 a0224 a0226 a0227 a0231 a0234 a0237 a0243 a0246 a0247 a0249 a0250 a0257 a0266 a0269 a0270 a0271 a0297 a0298 a0299 a0300	a0001c0001 a0001c0005 a0001c0010 others(164): Show a0001c0001 a0001c0005 a0001c0010 a0001c0033 a0001c0035 a0001c0209 a0001c0236 a0001c0242 a0001c0249 a0001c0259 a0001c0275 a0002c0002 a0002c0296 a0002c0299 a0002c0318 a0002c0320 a0004c0011 a0004c0234 a0012c0009 a0016c0312 a0016c0319 a0016c0322 a0017c0012 a0018c0034 a0018c0206 a0019c0038 a0019c0245 a0024c0029 a0025c0161 a0025c0162 a0028c0039 a0029c0040 a0031c0036 a0032c0037 a0036c0016 a0041c0022 a0048c0060 a0048c0072 a0050c0346 a0052c0056 a0056c0158 a0057c0153 a0058c0155 a0059c0152 a0060c0154 a0061c0157 a0062c0156 a0063c0159 a0064c0150 a0065c0149 a0066c0148 a0067c0147 a0071c0347 a0072c0160 a0077c0175 a0080c0195 a0081c0194 a0083c0188 a0084c0191 a0085c0190 a0086c0189 a0087c0192 a0098c0055 a0099c0054 a0100c0049 a0101c0168 a0102c0169 a0103c0170 a0107c0166 a0108c0165 a0109c0163 a0110c0046 a0111c0047 a0112c0045 a0113c0048 a0114c0173 a0116c0171 a0117c0051 a0118c0052 a0119c0053 a0121c0333 a0122c0334 a0124c0327 a0125c0200 a0126c0202 a0127c0203 a0130c0283 a0131c0285 a0132c0286 a0133c0310 a0135c0300 a0136c0321 a0137c0297 a0138c0282 a0139c0314 a0140c0298 a0141c0301 a0142c0295 a0143c0308 a0144c0307 a0145c0309 a0146c0302 a0147c0304 a0148c0303 a0149c0294 a0153c0279 a0161c0306 a0167c0215 a0168c0216 a0173c0225 a0174c0323 a0175c0324 a0176c0227 a0177c0228 a0178c0211 a0179c0229 a0180c0243 a0181c0244 a0182c0232 a0183c0239 a0184c0238 a0185c0210 a0186c0344 a0187c0240 a0188c0241 a0189c0208 a0190c0251 a0191c0237 a0192c0235 a0193c0233 a0194c0230 a0195c0231 a0196c0246 a0197c0247 a0198c0248 a0199c0252 a0200c0250 a0201c0226 a0205c0256 a0209c0214 a0212c0271 a0213c0270 a0214c0272 a0220c0274 a0221c0201 a0222c0205 a0223c0325 a0224c0204 a0226c0326 a0227c0329 a0231c0343 a0234c0065 a0237c0139 a0243c0115 a0246c0113 a0247c0112 a0249c0108 a0250c0114 a0257c0083 a0266c0098 a0269c0123 a0270c0093 a0271c0138 a0297c0071 a0298c0070 a0299c0059 a0300c0073	a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 others(171): Show a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 a0001c0005t0004 a0001c0010t0001 a0001c0033t0001 a0001c0035t0001 a0001c0035t0004 a0001c0209t0001 a0001c0236t0001 a0001c0242t0001 a0001c0249t0001 a0001c0259t0001 a0001c0275t0001 a0002c0002t0001 a0002c0296t0001 a0002c0299t0005 a0002c0318t0001 a0002c0320t0008 a0004c0011t0001 a0004c0234t0005 a0012c0009t0001 a0016c0312t0008 a0016c0319t0008 a0016c0322t0008 a0017c0012t0001 a0018c0034t0001 a0018c0206t0001 a0019c0038t0001 a0019c0038t0004 a0019c0245t0001 a0024c0029t0001 a0025c0161t0001 a0025c0162t0001 a0028c0039t0001 a0028c0039t0004 a0029c0040t0001 a0029c0040t0004 a0031c0036t0001 a0032c0037t0001 a0032c0037t0004 a0036c0016t0001 a0041c0022t0002 a0048c0060t0001 a0048c0072t0001 a0050c0346t0001 a0052c0056t0018 a0056c0158t0001 a0057c0153t0001 a0058c0155t0001 a0059c0152t0001 a0060c0154t0001 a0061c0157t0004 a0062c0156t0004 a0063c0159t0004 a0064c0150t0001 a0065c0149t0002 a0066c0148t0007 a0067c0147t0002 a0071c0347t0001 a0072c0160t0009 a0077c0175t0012 a0080c0195t0003 a0081c0194t0003 a0083c0188t0001 a0084c0191t0012 a0085c0190t0001 a0086c0189t0001 a0087c0192t0012 a0098c0055t0009 a0099c0054t0001 a0100c0049t0010 a0101c0168t0005 a0102c0169t0001 a0103c0170t0005 a0107c0166t0009 a0108c0165t0009 a0109c0163t0009 a0110c0046t0010 a0111c0047t0010 a0112c0045t0010 a0113c0048t0010 a0114c0173t0001 a0116c0171t0009 a0117c0051t0004 a0118c0052t0001 a0119c0053t0004 a0121c0333t0004 a0122c0334t0003 a0124c0327t0005 a0125c0200t0001 a0126c0202t0001 a0127c0203t0001 a0130c0283t0006 a0131c0285t0001 a0132c0286t0004 a0133c0310t0003 a0135c0300t0001 a0136c0321t0008 a0137c0297t0001 a0138c0282t0001 a0139c0314t0019 a0140c0298t0001 a0141c0301t0001 a0142c0295t0001 a0143c0308t0001 a0144c0307t0001 a0145c0309t0001 a0146c0302t0001 a0147c0304t0001 a0148c0303t0001 a0149c0294t0001 a0153c0279t0002 a0161c0306t0005 a0167c0215t0005 a0168c0216t0001 a0173c0225t0005 a0174c0323t0001 a0175c0324t0001 a0176c0227t0001 a0177c0228t0005 a0178c0211t0001 a0179c0229t0001 a0180c0243t0001 a0181c0244t0001 a0182c0232t0001 a0183c0239t0017 a0184c0238t0001 a0185c0210t0001 a0186c0344t0001 a0187c0240t0001 a0188c0241t0001 a0189c0208t0001 a0190c0251t0001 a0191c0237t0001 a0192c0235t0001 a0193c0233t0001 a0194c0230t0021 a0195c0231t0001 a0196c0246t0001 a0197c0247t0001 a0198c0248t0001 a0199c0252t0001 a0200c0250t0001 a0201c0226t0001 a0205c0256t0001 a0209c0214t0010 a0212c0271t0004 a0213c0270t0001 a0214c0272t0001 a0220c0274t0001 a0221c0201t0001 a0222c0205t0002 a0223c0325t0016 a0224c0204t0005 a0226c0326t0005 a0227c0329t0001 a0231c0343t0001 a0234c0065t0005 a0237c0139t0001 a0243c0115t0013 a0246c0113t0002 a0247c0112t0001 a0249c0108t0001 a0250c0114t0001 a0257c0083t0002 a0266c0098t0002 a0269c0123t0002 a0270c0093t0001 a0271c0138t0001 a0297c0071t0001 a0298c0070t0020 a0299c0059t0001 a0300c0073t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0019 others(186): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0191 a0001c0001t0001g0308 a0001c0001t0001g0386 a0001c0001t0005g0151 a0001c0005t0001g0123 a0001c0005t0001g0180 a0001c0005t0001g0335 a0001c0005t0004g0192 a0001c0010t0001g0009 a0001c0010t0001g0117 a0001c0033t0001g0017 a0001c0035t0001g0179 a0001c0035t0004g0178 a0001c0209t0001g0116 a0001c0236t0001g0327 a0001c0242t0001g0124 a0001c0249t0001g0126 a0001c0259t0001g0314 a0001c0275t0001g0262 a0002c0002t0001g0003 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0296t0001g0215 a0002c0299t0005g0092 a0002c0318t0001g0142 a0002c0320t0008g0143 a0004c0011t0001g0006 a0004c0234t0005g0268 a0012c0009t0001g0002 a0016c0312t0008g0189 a0016c0319t0008g0249 a0016c0322t0008g0145 a0017c0012t0001g0065 a0017c0012t0001g0066 a0017c0012t0001g0104 a0018c0034t0001g0012 a0018c0206t0001g0115 a0019c0038t0001g0209 a0019c0038t0004g0125 a0019c0245t0001g0210 a0024c0029t0001g0007 a0025c0161t0001g0196 a0025c0162t0001g0033 a0028c0039t0001g0198 a0028c0039t0004g0197 a0029c0040t0001g0060 a0029c0040t0004g0056 a0031c0036t0001g0013 a0032c0037t0001g0328 a0032c0037t0004g0122 a0036c0016t0001g0022 a0041c0022t0002g0023 a0048c0060t0001g0333 a0048c0072t0001g0159 a0050c0346t0001g0306 a0052c0056t0018g0283 a0056c0158t0001g0048 a0057c0153t0001g0049 a0058c0155t0001g0047 a0059c0152t0001g0274 a0060c0154t0001g0046 a0061c0157t0004g0237 a0062c0156t0004g0241 a0063c0159t0004g0059 a0064c0150t0001g0051 a0065c0149t0002g0219 a0066c0148t0007g0218 a0067c0147t0002g0217 a0071c0347t0001g0063 a0072c0160t0009g0036 a0077c0175t0012g0358 a0080c0195t0003g0370 a0081c0194t0003g0100 a0083c0188t0001g0366 a0084c0191t0012g0041 a0085c0190t0001g0348 a0086c0189t0001g0367 a0087c0192t0012g0359 a0098c0055t0009g0211 a0099c0054t0001g0103 a0100c0049t0010g0040 a0101c0168t0005g0238 a0102c0169t0001g0239 a0103c0170t0005g0240 a0107c0166t0009g0226 a0108c0165t0009g0225 a0109c0163t0009g0223 a0110c0046t0010g0071 a0111c0047t0010g0072 a0112c0045t0010g0070 a0113c0048t0010g0216 a0114c0173t0001g0064 a0116c0171t0009g0200 a0117c0051t0004g0205 a0118c0052t0001g0206 a0119c0053t0004g0207 a0121c0333t0004g0253 a0122c0334t0003g0254 a0124c0327t0005g0222 a0125c0200t0001g0289 a0126c0202t0001g0112 a0127c0203t0001g0113 a0130c0283t0006g0220 a0131c0285t0001g0214 a0132c0286t0004g0054 a0133c0310t0003g0075 a0135c0300t0001g0187 a0136c0321t0008g0144 a0137c0297t0001g0138 a0138c0282t0001g0201 a0139c0314t0019g0331 a0140c0298t0001g0099 a0141c0301t0001g0188 a0142c0295t0001g0078 a0143c0308t0001g0387 a0144c0307t0001g0058 a0145c0309t0001g0062 a0146c0302t0001g0105 a0147c0304t0001g0055 a0148c0303t0001g0199 a0149c0294t0001g0061 a0153c0279t0002g0375 a0161c0306t0005g0272 a0167c0215t0005g0119 a0168c0216t0001g0324 a0173c0225t0005g0107 a0174c0323t0001g0146 a0175c0324t0001g0147 a0176c0227t0001g0029 a0177c0228t0005g0031 a0178c0211t0001g0271 a0179c0229t0001g0150 a0180c0243t0001g0382 a0181c0244t0001g0259 a0182c0232t0001g0094 a0183c0239t0017g0121 a0184c0238t0001g0258 a0185c0210t0001g0176 a0186c0344t0001g0275 a0187c0240t0001g0084 a0188c0241t0001g0246 a0189c0208t0001g0086 a0190c0251t0001g0182 a0191c0237t0001g0068 a0192c0235t0001g0326 a0193c0233t0001g0325 a0194c0230t0021g0057 a0195c0231t0001g0177 a0196c0246t0001g0181 a0197c0247t0001g0313 a0198c0248t0001g0069 a0199c0252t0001g0127 a0200c0250t0001g0317 a0201c0226t0001g0120 a0205c0256t0001g0261 a0209c0214t0010g0212 a0212c0271t0004g0247 a0213c0270t0001g0235 a0214c0272t0001g0248 a0220c0274t0001g0250 a0221c0201t0001g0108 a0222c0205t0002g0114 a0223c0325t0016g0194 a0224c0204t0005g0073 a0226c0326t0005g0050 a0227c0329t0001g0264 a0231c0343t0001g0256 a0234c0065t0005g0291 a0237c0139t0001g0043 a0243c0115t0013g0297 a0246c0113t0002g0083 a0247c0112t0001g0296 a0249c0108t0001g0295 a0250c0114t0001g0319 a0257c0083t0002g0053 a0266c0098t0002g0090 a0269c0123t0002g0337 a0270c0093t0001g0343 a0271c0138t0001g0365 a0297c0071t0001g0380 a0298c0070t0020g0158 a0299c0059t0001g0332 a0300c0073t0001g0160	209	424	0.4929	-6	c.789 others(15): Show c.7894_7899delGCCGCC	p.Ala others(15): Show p.Ala2632_Ala2633del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	7974/16005	7894/15267	2632/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143865354	GGGCGGCG others(5): Show GGGCGGCGGCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00408.hp1 HG00423.hp1 HG00673.hp2 others(14): Show HG00408.hp1 HG00423.hp1 HG00673.hp2 HG01106.hp2 HG02109.hp1 HG02559.hp1 HG02896.hp1 HG02970.hp2 HG03195.hp1 HG03516.hp2 HG03540.hp2 NA18906.hp2 NA18972.hp1 NA18974.hp1 NA18982.hp1 NA19030.hp2 NA19084.hp2	a0015 a0055 a0073 others(12): Show a0015 a0055 a0073 a0075 a0078 a0079 a0092 a0120 a0128 a0129 a0160 a0225 a0228 a0242 a0305	a0015c0041 a0015c0316 a0055c0341 others(13): Show a0015c0041 a0015c0316 a0055c0341 a0073c0339 a0075c0199 a0078c0177 a0079c0342 a0092c0182 a0120c0332 a0128c0277 a0129c0311 a0160c0317 a0225c0315 a0228c0328 a0242c0116 a0305c0063	a0015c0041t0003 a0015c0041t0013 a0015c0316t0003 others(14): Show a0015c0041t0003 a0015c0041t0013 a0015c0316t0003 a0055c0341t0016 a0073c0339t0009 a0075c0199t0003 a0078c0177t0003 a0079c0342t0003 a0092c0182t0013 a0120c0332t0003 a0128c0277t0022 a0129c0311t0013 a0160c0317t0003 a0225c0315t0003 a0228c0328t0003 a0242c0116t0003 a0305c0063t0006	a0015c0041t0003g0140 a0015c0041t0013g0097 a0015c0316t0003g0227 others(14): Show a0015c0041t0003g0140 a0015c0041t0013g0097 a0015c0316t0003g0227 a0055c0341t0016g0255 a0073c0339t0009g0039 a0075c0199t0003g0340 a0078c0177t0003g0339 a0079c0342t0003g0338 a0092c0182t0013g0351 a0120c0332t0003g0252 a0128c0277t0022g0032 a0129c0311t0013g0373 a0160c0317t0003g0141 a0225c0315t0003g0139 a0228c0328t0003g0148 a0242c0116t0003g0298 a0305c0063t0006g0082	17	424	0.0401	-12	c.788 others(21): Show c.7888_7899delGCCGCCGCCGCC	p.Ala others(15): Show p.Ala2630_Ala2633del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	7974/16005	7888/15267	2630/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143865354	GGGCGGCG others(8): Show GGGCGGCGGCGGCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00323.hp1 HG00544.hp1 HG00609.hp2 others(36): Show HG00323.hp1 HG00544.hp1 HG00609.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01192.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG02027.hp1 HG02027.hp2 HG02258.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03942.hp1 HG04184.hp2 NA18612.hp1 NA18906.hp1 NA18947.hp1 NA18950.hp1 NA18956.hp2 NA18957.hp1 NA18973.hp1 NA18986.hp1 NA18995.hp2 NA18997.hp1 NA19000.hp1 NA19043.hp1	a0003 a0010 a0011 others(21): Show a0003 a0010 a0011 a0013 a0020 a0035 a0054 a0068 a0069 a0070 a0076 a0082 a0097 a0104 a0115 a0123 a0151 a0166 a0202 a0203 a0229 a0239 a0251 a0267	a0003c0008 a0003c0030 a0003c0031 others(25): Show a0003c0008 a0003c0030 a0003c0031 a0010c0015 a0010c0050 a0011c0007 a0013c0014 a0020c0032 a0020c0223 a0035c0043 a0054c0340 a0068c0146 a0069c0151 a0070c0145 a0076c0198 a0082c0193 a0097c0330 a0104c0167 a0115c0172 a0123c0331 a0151c0281 a0166c0212 a0202c0218 a0203c0224 a0229c0336 a0239c0076 a0251c0084 a0267c0137	a0003c0008t0003 a0003c0030t0003 a0003c0031t0003 others(28): Show a0003c0008t0003 a0003c0030t0003 a0003c0031t0003 a0003c0031t0024 a0010c0015t0001 a0010c0050t0001 a0011c0007t0001 a0013c0014t0008 a0013c0014t0011 a0020c0032t0008 a0020c0032t0015 a0020c0223t0015 a0035c0043t0011 a0054c0340t0027 a0068c0146t0003 a0069c0151t0004 a0070c0145t0001 a0076c0198t0003 a0082c0193t0003 a0097c0330t0004 a0104c0167t0001 a0115c0172t0001 a0123c0331t0004 a0151c0281t0008 a0166c0212t0003 a0202c0218t0002 a0203c0224t0005 a0229c0336t0011 a0239c0076t0002 a0251c0084t0005 a0267c0137t0003	a0003c0008t0003g0027 a0003c0008t0003g0360 a0003c0030t0003g0010 others(31): Show a0003c0008t0003g0027 a0003c0008t0003g0360 a0003c0030t0003g0010 a0003c0031t0003g0369 a0003c0031t0024g0368 a0010c0015t0001g0202 a0010c0015t0001g0203 a0010c0050t0001g0204 a0011c0007t0001g0005 a0013c0014t0008g0137 a0013c0014t0011g0021 a0020c0032t0008g0098 a0020c0032t0015g0087 a0020c0223t0015g0388 a0035c0043t0011g0079 a0035c0043t0011g0149 a0054c0340t0027g0045 a0068c0146t0003g0213 a0069c0151t0004g0052 a0070c0145t0001g0236 a0076c0198t0003g0228 a0082c0193t0003g0376 a0097c0330t0004g0273 a0104c0167t0001g0208 a0115c0172t0001g0221 a0123c0331t0004g0251 a0151c0281t0008g0135 a0166c0212t0003g0109 a0202c0218t0002g0091 a0203c0224t0005g0266 a0229c0336t0011g0080 a0239c0076t0002g0292 a0251c0084t0005g0277 a0267c0137t0003g0304	39	424	0.0920	-15	c.788 others(24): Show c.7885_7899delGCCGCCGCCGCCGCC	p.Ala others(15): Show p.Ala2629_Ala2633del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	7974/16005	7885/15267	2629/5088		chr8	TogoVar
ERICH1_chr8_659200_736224	673457	CACCGTCC others(17): Show CACCGTCCTCCTCCCTGGTGTCTTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02615.hp1 HG03471.hp1 HG03516.hp1 HG02615.hp1 HG03471.hp1 HG03516.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0238 a0005c0007t0001g0239 a0005c0007t0001g0240 a0005c0007t0001g0238 a0005c0007t0001g0239 a0005c0007t0001g0240	3	378	0.0079	-24	c.871 others(31): Show c.871_894delAAAGACACCAGGGAGGAGGACGGT	p.Lys others(13): Show p.Lys291_Gly298del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	4/6	957/1798	871/1332	291/443		chr8	TogoVar
ESF1_chr20_13709325_13789919	13759800	CCTT CCTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00621.hp1 HG02165.hp1 HG02523.hp2 others(7): Show HG00621.hp1 HG02165.hp1 HG02523.hp2 NA18942.hp1 NA18954.hp2 NA18960.hp2 NA18962.hp2 NA18978.hp2 NA19000.hp2 NA19057.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0226 a0004c0006t0001g0227 a0004c0006t0001g0229 others(7): Show a0004c0006t0001g0226 a0004c0006t0001g0227 a0004c0006t0001g0229 a0004c0006t0001g0230 a0004c0006t0001g0231 a0004c0006t0001g0232 a0004c0006t0001g0233 a0004c0006t0001g0234 a0004c0006t0001g0235 a0004c0006t0001g0236	10	390	0.0256	-3	c.171 others(12): Show c.1717_1719delAAG	p.Lys others(6): Show p.Lys573del	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	9/14	1802/3188	1717/2556	573/851		chr20	TogoVar
ESRRA_chr11_64300524_64321743	64314849	CCCTCTGT others(32): Show CCCTCTGTGACCTCTTTGACCGAGAGATTGTGGTCACCAT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG04199.hp2 HG04199.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0157 a0005c0005t0001g0157	1	388	0.0026	-39	c.682 others(46): Show c.682_720delCTCTGTGACCTCTTTGACCGAGAGATTGTGGTCACCAT C	p.Leu others(13): Show p.Leu228_Ile240del	ESRRA	ENSG00000173153.17	transcript	ENST00000000442.11	protein_coding	5/7	907/2274	682/1272	228/423	INFO_REALIGN_3_PRIME	chr11	TogoVar
ESX1_chrX_104245038_104259933	104250317	TGGGTGGC others(20): Show TGGGTGGCAGAGGCGCCATGGGCGGCCC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp2 HG00323.hp2 HG00741.hp2 others(21): Show HG00099.hp2 HG00323.hp2 HG00741.hp2 HG01099.hp1 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01993.hp1 HG02004.hp1 HG02083.hp1 HG03139.hp1 HG03704.hp2 HG03927.hp1 NA18945.hp1 NA18947.hp2 NA18970.hp1 NA18992.hp2 NA18993.hp1 NA19074.hp1 NA19089.hp1 NA20129.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0005 a0009 a0026 others(1): Show a0005 a0009 a0026 a0032	a0005c0005 a0009c0009 a0026c0024 others(1): Show a0005c0005 a0009c0009 a0026c0024 a0032c0028	a0005c0005t0001 a0009c0009t0001 a0026c0024t0001 others(1): Show a0005c0005t0001 a0009c0009t0001 a0026c0024t0001 a0032c0028t0001	a0005c0005t0001g0005 a0005c0005t0001g0014 a0005c0005t0001g0035 others(3): Show a0005c0005t0001g0005 a0005c0005t0001g0014 a0005c0005t0001g0035 a0009c0009t0001g0009 a0026c0024t0001g0062 a0032c0028t0001g0064	24	313	0.0767	-27	c.110 others(36): Show c.1105_1131delGGGCCGCCCATGGCGCCTCTGCCACCC	p.Gly others(13): Show p.Gly369_Pro377del	ESX1	ENSG00000123576.5	transcript	ENST00000372588.4	protein_coding	4/4	1215/1495	1105/1221	369/406		chrX	TogoVar

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