Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
EIF3CL_chr16_28374715_28408841	28392031	GTCC GTCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp1 HG00280.hp2 HG00423.hp1 others(164): Show HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18993.hp1 NA18993.hp2 NA19000.hp1 NA19000.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008	a0001c0001 a0001c0005 a0001c0006 others(14): Show a0001c0001 a0001c0005 a0001c0006 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0002c0002 a0002c0007 a0002c0013 a0002c0018 a0003c0003 a0005c0008 a0006c0009 a0007c0017 a0008c0010	a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 others(14): Show a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 a0001c0011t0001 a0001c0012t0002 a0001c0014t0001 a0001c0015t0001 a0001c0016t0001 a0002c0002t0001 a0002c0007t0001 a0002c0013t0001 a0002c0018t0001 a0003c0003t0002 a0005c0008t0001 a0006c0009t0002 a0007c0017t0001 a0008c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(154): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0005t0001g0022 a0001c0005t0001g0023 a0001c0005t0001g0024 a0001c0005t0001g0025 a0001c0006t0001g0139 a0001c0006t0001g0142 a0001c0006t0001g0143 a0001c0006t0001g0147 a0001c0011t0001g0067 a0001c0012t0002g0009 a0001c0014t0001g0040 a0001c0015t0001g0098 a0001c0016t0001g0044 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0029 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0094 a0002c0002t0001g0097 a0002c0002t0001g0131 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0007t0001g0114 a0002c0007t0001g0115 a0002c0007t0001g0116 a0002c0013t0001g0150 a0002c0018t0001g0028 a0003c0003t0002g0010 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0016 a0005c0008t0001g0021 a0006c0009t0002g0015 a0007c0017t0001g0113 a0008c0010t0001g0031	167	172	0.9709	-3	c.885 others(10): Show c.885_887delGGA	p.Glu others(6): Show p.Glu295del	EIF3CL	ENSG00000205609.13	transcript	ENST00000380876.5	protein_coding	9/21	972/2913	885/2745	295/914		chr16	TogoVar
EIF4B_chr12_53001456_53047215	53039625	TGCAGGAA others(27): Show TGCAGGAAAGATGGCAAAAAGGATCAAGACTCCAG	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA19000.hp2 NA19000.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0152 a0004c0008t0001g0152	1	372	0.0027	-34	c.168 others(45): Show c.1683-4_1712delGCAGGAAAGATGGCAAAAAGGATCAAGACTCCAG	p.Lys others(13): Show p.Lys562_Arg571del	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	14/15		1683/1836	561/611		chr12	TogoVar
EIF4G1_chr3_184309606_184340353	184321978	AAGGAGAA others(2): Show AAGGAGAAGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00738.hp2 HG01109.hp1 HG01175.hp1 others(2): Show HG00738.hp2 HG01109.hp1 HG01175.hp1 HG01256.hp1 HG01258.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0012 a0003c0005t0001g0064 a0003c0005t0001g0012 a0003c0005t0001g0064	5	384	0.0130	-9	c.141 others(18): Show c.1413_1421delAGGAGAAGC	p.Gly others(13): Show p.Gly472_Ala474del	EIF4G1	ENSG00000114867.22	transcript	ENST00000346169.7	protein_coding	10/33	1573/5405	1413/4800	471/1599	INFO_REALIGN_3_PRIME	chr3	TogoVar
ELN_chr7_74023173_74074907	74053290	CCCAGGTG others(8): Show CCCAGGTGCTGCGGTT	C C	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA19012.hp1 NA19012.hp1	a0015 a0015	a0015c0014 a0015c0014	a0015c0014t0001 a0015c0014t0001	a0015c0014t0001g0060 a0015c0014t0001g0060	1	366	0.0027	-15	c.108 others(26): Show c.1085_1096+3delCTGCGGTTCCAGGTG	p.Ala others(13): Show p.Ala362_Pro365del	ELN	ENSG00000049540.19	transcript	ENST00000252034.12	protein_coding	18/33	1100/3397	1085/2175	362/724	INFO_REALIGN_3_PRIME	chr7	TogoVar
EMILIN2_chr18_2842006_2921003	2913222	CGCCCTCC others(8): Show CGCCCTCCAGGAGCTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19068.hp2 NA19068.hp2	a0018 a0018	a0018c0034 a0018c0034	a0018c0034t0001 a0018c0034t0001	a0018c0034t0001g0347 a0018c0034t0001g0347	1	452	0.0022	-15	c.298 others(24): Show c.2981_2995delGCCCTCCAGGAGCTT	p.Arg others(13): Show p.Arg994_Ala998del	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	8/8	3164/5944	2981/3162	994/1053		chr18	TogoVar
EN1_chr2_118837171_118852648	118846529	CGCCGCCG others(17): Show CGCCGCCGCCGCCACTGCCGCCGCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp1 HG02572.hp1 HG02809.hp1 HG01891.hp1 HG02572.hp1 HG02809.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0025 a0002c0004t0002g0025	3	442	0.0068	-24	c.615 others(31): Show c.615_638delCGCGGCGGCAGTGGCGGCGGCGGC	p.Ala others(13): Show p.Ala206_Ala213del	EN1	ENSG00000163064.7	transcript	ENST00000295206.7	protein_coding	1/2	1119/2427	615/1179	205/392		chr2	TogoVar
ENAH_chr1_225481829_225658123	225519331	ATCCAGGC others(11): Show ATCCAGGCGTTCCTGCCGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00738.hp1 HG01167.hp1 others(17): Show HG00099.hp1 HG00738.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01261.hp1 HG02055.hp2 HG02132.hp2 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02886.hp1 HG03516.hp1 HG03710.hp1 HG04115.hp2 NA18906.hp1 NA18942.hp2 NA18943.hp2 NA18956.hp1 NA19054.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0002c0006 a0008c0007 a0002c0002 a0002c0006 a0008c0007	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(9): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0002c0002t0017 a0002c0002t0022 a0002c0002t0028 a0002c0002t0056 a0002c0006t0108 a0002c0006t0109 a0008c0007t0061	a0002c0002t0001g0076 a0002c0002t0001g0114 a0002c0002t0001g0115 others(17): Show a0002c0002t0001g0076 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0132 a0002c0002t0001g0136 a0002c0002t0002g0191 a0002c0002t0002g0198 a0002c0002t0003g0273 a0002c0002t0004g0256 a0002c0002t0004g0287 a0002c0002t0004g0288 a0002c0002t0008g0276 a0002c0002t0017g0291 a0002c0002t0022g0078 a0002c0002t0028g0066 a0002c0002t0056g0242 a0002c0006t0108g0020 a0002c0006t0109g0024 a0008c0007t0061g0116	20	308	0.0649	-18	c.651 others(25): Show c.651_668delGCGGCAGGAACGCCTGGA	p.Glu others(13): Show p.Glu217_Leu222del	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	5/14	1101/13092	651/1713	217/570		chr1	TogoVar
ENAH_chr1_225481829_225658123	225519331	ATCCAGGC others(29): Show ATCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18946.hp1 NA18946.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0013 a0005c0012t0013	a0005c0012t0013g0034 a0005c0012t0013g0034	1	308	0.0033	-36	c.633 others(43): Show c.633_668delGCGGCAGGAACGCCTGGAGCGGCAGGAACGCCTGGA	p.Glu others(13): Show p.Glu211_Leu222del	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	5/14	1101/13092	633/1713	211/570		chr1	TogoVar
EP400_chr12_131944942_132085460	132062548	ACAG ACAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02647.hp1 NA18993.hp1 HG02647.hp1 NA18993.hp1	a0016 a0020 a0016 a0020	a0016c0067 a0020c0035 a0016c0067 a0020c0035	a0016c0067t0001 a0020c0035t0001 a0016c0067t0001 a0020c0035t0001	a0016c0067t0001g0195 a0020c0035t0001g0090 a0016c0067t0001g0195 a0020c0035t0001g0090	2	208	0.0096	-3	c.822 others(12): Show c.8223_8225delGCA	p.Gln others(7): Show p.Gln2742del	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	47/53	8353/12289	8223/9372	2741/3123	INFO_REALIGN_3_PRIME	chr12	TogoVar
EPHA8_chr1_22558489_22608595	22598984	GGTGTCTG others(5): Show GGTGTCTGACTTC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18985.hp2 NA18985.hp2	a0000 a0000	a0000c0041 a0000c0041	a0000c0041t0001 a0000c0041t0001	a0000c0041t0001g0031 a0000c0041t0001g0031	1	342	0.0029	-12	c.232 others(21): Show c.2327_2338delTGTCTGACTTCG	p.Val others(13): Show p.Val776_Phe779del	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	13/17	2474/5019	2327/3018	776/1005	INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB6_chr7_142850076_142876093	142864293	CCCT CCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 others(5): Show a0001 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0004 a0001c0008 others(14): Show a0001c0001 a0001c0004 a0001c0008 a0001c0009 a0001c0011 a0001c0013 a0001c0018 a0001c0019 a0001c0022 a0001c0024 a0005c0007 a0006c0010 a0007c0012 a0008c0023 a0009c0025 a0010c0020 a0011c0021	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(18): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0004t0001 a0001c0008t0006 a0001c0009t0001 a0001c0011t0001 a0001c0013t0001 a0001c0018t0006 a0001c0019t0001 a0001c0022t0001 a0001c0024t0001 a0005c0007t0001 a0006c0010t0001 a0007c0012t0001 a0008c0023t0001 a0009c0025t0001 a0010c0020t0001 a0011c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(79): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0007g0016 a0001c0001t0007g0090 a0001c0001t0008g0001 a0001c0001t0010g0054 a0001c0001t0011g0001 a0001c0004t0001g0001 a0001c0004t0001g0004 a0001c0004t0001g0008 a0001c0004t0001g0053 a0001c0004t0001g0061 a0001c0008t0006g0024 a0001c0008t0006g0088 a0001c0009t0001g0001 a0001c0011t0001g0001 a0001c0011t0001g0015 a0001c0013t0001g0009 a0001c0018t0006g0086 a0001c0019t0001g0010 a0001c0022t0001g0001 a0001c0024t0001g0001 a0005c0007t0001g0007 a0006c0010t0001g0019 a0007c0012t0001g0001 a0007c0012t0001g0004 a0008c0023t0001g0001 a0009c0025t0001g0002 a0010c0020t0001g0112 a0011c0021t0001g0001	229	311	0.7363	-3	c.519 others(10): Show c.519_521delCTC	p.Ser others(6): Show p.Ser174del	EPHB6	ENSG00000106123.12	transcript	ENST00000652003.1	protein_coding	7/20	1260/3999	519/3069	173/1022	INFO_REALIGN_3_PRIME	chr7	TogoVar
EPPK1_chr8_143852324_143883467	143858128	GCGGTTCA others(3194): Show GCGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGG GCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGG GCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCAT GGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGG TGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACC ACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGG GTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCG TGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTC TCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCA GCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCT GCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGG ATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCG GAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGA GGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCC AGGAGCTCGTCTCGGTGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTC CCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGG TGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCC TGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCC GTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCT GGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCG GTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTC GGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCA CGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCC ATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGC CTCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCG AGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTAT CTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAG GAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCA TCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGC ACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGG GTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCG TGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAGGACA CGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGG CACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGG CCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATG GCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGT GACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCA CGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGG TCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGT GCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCT CCTGGTGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAG CTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTG CAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGA TCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGG AAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAG GACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCA GGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCC CACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGT GGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGTGGCGGCGG CGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCC GAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCA GGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGA TGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAG CCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGA CGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCT TGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGG CTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAG CGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGT ATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAG AGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGG CGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGT GCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCC GGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTG CGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGA CA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00597.hp1 HG01074.hp2 HG01261.hp2 others(5): Show HG00597.hp1 HG01074.hp2 HG01261.hp2 HG01346.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG03471.hp1	a0034 a0067 a0095 others(4): Show a0034 a0067 a0095 a0287 a0294 a0295 a0296	a0034c0260 a0034c0261 a0067c0147 others(5): Show a0034c0260 a0034c0261 a0067c0147 a0095c0196 a0287c0129 a0294c0119 a0295c0117 a0296c0118	a0034c0260t0002 a0034c0261t0006 a0067c0147t0002 others(5): Show a0034c0260t0002 a0034c0261t0006 a0067c0147t0002 a0095c0196t0002 a0287c0129t0002 a0294c0119t0002 a0295c0117t0002 a0296c0118t0002	a0034c0260t0002g0128 a0034c0261t0006g0183 a0067c0147t0002g0217 others(5): Show a0034c0260t0002g0128 a0034c0261t0006g0183 a0067c0147t0002g0217 a0095c0196t0002g0356 a0287c0129t0002g0290 a0294c0119t0002g0321 a0295c0117t0002g0323 a0296c0118t0002g0320	8	424	0.0189	-3201	c.119 others(11): Show c.11925_15125del	p.Val others(15): Show p.Val3976_Arg5042del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	15200/16005	11925/15267	3975/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143858159	CGGTAGGC others(6389): Show CGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGAC GCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGA CGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTG TAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTC CTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACA GCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCC TCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGC CTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCA CCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAG TCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCG CAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACA CCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTC TCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGC GCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGTGGGCCTCGCTCAGGT ACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGC CCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCG GGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCT GGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGC GGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTC GGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCA GGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTC ACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAG GCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGT CTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCTCGGCCCGGGCCTGGGCC TGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGT CAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGG ACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGG AGGGCGCCCGAGCCTGGCATCACGCGGGCGTCGCGCAGGGCACAGCGCAG CTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCA TGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACG TACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTC GCTGGGGTGGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCC GGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACG CCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGAC GATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGT AGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCC TGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAG CCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCT CCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCC TGGTAGATGCTCATCTTCTCCTGGTGGCCGGGCTGGTCCTTGGCGGGCAC CAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGT CCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGC AGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACAC CTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCT CCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCG CCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTA CGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCC CGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGG GCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCC CTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTG GCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGG GCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGG CAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGG CCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGC CCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTC CCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGG CCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACG GTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTC GGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCT GGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGC AGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAG CATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCA CGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCG TCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCG CCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGA CGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGG ACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGT GTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCT CCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGAC AGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGC CTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGG CCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGC ACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGA GTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCC GCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGAC ACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGT CTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGG CGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGG TACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTG CCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGC 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 GGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03942.hp2 HG03942.hp2	a0196 a0196	a0196c0246 a0196c0246	a0196c0246t0001 a0196c0246t0001	a0196c0246t0001g0181 a0196c0246t0001g0181	1	424	0.0024	-6396	c.869 others(10): Show c.8699_15094del	p.Gln others(15): Show p.Gln2900_Tyr5031del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	15169/16005	8699/15267	2900/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143858534	CGGCCGGG others(1592): Show CGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGT GCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCG TCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCG GACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGA CACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGG CGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGC TCGTCTCGGTGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACAC GGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCAT CACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTC TCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCC TCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCT GCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGC CGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAG CAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCC ACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTG GCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGC CTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGA GGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTC AGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTC CCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCATCACGC GGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCG GAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGG CACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGG GGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAGGACACGGTTC ATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCG GTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCA GCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGG AAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGC GCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCG CGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATG ACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGG CCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp1 HG02145.hp2 NA18972.hp1 others(1): Show HG00639.hp1 HG02145.hp2 NA18972.hp1 NA19240.hp1	a0065 a0066 a0078 others(1): Show a0065 a0066 a0078 a0190	a0065c0149 a0066c0148 a0078c0177 others(1): Show a0065c0149 a0066c0148 a0078c0177 a0190c0251	a0065c0149t0002 a0066c0148t0007 a0078c0177t0003 others(1): Show a0065c0149t0002 a0066c0148t0007 a0078c0177t0003 a0190c0251t0001	a0065c0149t0002g0219 a0066c0148t0007g0218 a0078c0177t0003g0339 others(1): Show a0065c0149t0002g0219 a0066c0148t0007g0218 a0078c0177t0003g0339 a0190c0251t0001g0182	4	424	0.0094	-1599	c.131 others(11): Show c.13121_14719del	p.His others(15): Show p.His4374_Gly4906del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	14794/16005	13121/15267	4374/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143859323	CCGGCCT CCGGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(207): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02055.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA18991.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19064.hp1 NA19065.hp1 NA19074.hp2 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0003 a0007 a0008 others(159): Show a0003 a0007 a0008 a0009 a0010 a0011 a0014 a0015 a0017 a0018 a0021 a0022 a0023 a0025 a0026 a0029 a0030 a0033 a0037 a0038 a0039 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0049 a0051 a0053 a0055 a0061 a0062 a0068 a0069 a0070 a0072 a0073 a0075 a0076 a0079 a0080 a0081 a0082 a0089 a0090 a0091 a0092 a0093 a0094 a0096 a0097 a0098 a0100 a0104 a0105 a0106 a0107 a0108 a0109 a0114 a0115 a0116 a0120 a0121 a0122 a0123 a0124 a0128 a0129 a0130 a0132 a0133 a0141 a0153 a0154 a0157 a0158 a0159 a0162 a0163 a0164 a0165 a0166 a0175 a0187 a0194 a0202 a0206 a0207 a0208 a0210 a0211 a0215 a0216 a0217 a0218 a0219 a0222 a0223 a0224 a0225 a0228 a0230 a0231 a0232 a0233 a0235 a0236 a0238 a0239 a0240 a0241 a0242 a0243 a0244 a0246 a0247 a0248 a0253 a0254 a0255 a0256 a0257 a0258 a0259 a0260 a0261 a0262 a0263 a0264 a0265 a0266 a0267 a0269 a0272 a0273 a0274 a0275 a0276 a0277 a0278 a0279 a0280 a0281 a0282 a0283 a0284 a0285 a0286 a0288 a0289 a0290 a0291 a0292 a0293 a0302 a0303 a0304 a0305 a0306	a0003c0008 a0003c0030 a0003c0031 others(179): Show a0003c0008 a0003c0030 a0003c0031 a0007c0013 a0007c0273 a0008c0017 a0008c0021 a0009c0174 a0009c0178 a0009c0187 a0010c0015 a0010c0050 a0011c0007 a0014c0044 a0014c0280 a0015c0041 a0015c0316 a0017c0012 a0018c0034 a0018c0206 a0021c0006 a0022c0024 a0022c0094 a0023c0095 a0023c0096 a0023c0102 a0025c0161 a0025c0162 a0026c0185 a0026c0186 a0029c0040 a0030c0257 a0030c0258 a0033c0213 a0033c0268 a0037c0075 a0037c0143 a0038c0019 a0039c0023 a0041c0022 a0042c0088 a0042c0092 a0043c0085 a0043c0089 a0044c0020 a0045c0027 a0046c0026 a0047c0025 a0049c0028 a0051c0345 a0053c0144 a0055c0341 a0061c0157 a0062c0156 a0068c0146 a0069c0151 a0070c0145 a0072c0160 a0073c0339 a0075c0199 a0076c0198 a0079c0342 a0080c0195 a0081c0194 a0082c0193 a0089c0183 a0090c0184 a0091c0180 a0092c0182 a0093c0176 a0094c0181 a0096c0197 a0097c0330 a0098c0055 a0100c0049 a0104c0167 a0105c0338 a0106c0164 a0107c0166 a0108c0165 a0109c0163 a0114c0173 a0115c0172 a0116c0171 a0120c0332 a0121c0333 a0122c0334 a0123c0331 a0124c0327 a0128c0277 a0129c0311 a0130c0283 a0132c0286 a0133c0310 a0141c0301 a0153c0279 a0154c0291 a0157c0278 a0158c0289 a0159c0288 a0162c0284 a0163c0313 a0164c0276 a0165c0207 a0166c0212 a0175c0324 a0187c0240 a0194c0230 a0202c0218 a0206c0221 a0207c0219 a0208c0220 a0210c0263 a0211c0262 a0215c0269 a0216c0264 a0217c0267 a0218c0266 a0219c0265 a0222c0205 a0223c0325 a0224c0204 a0225c0315 a0228c0328 a0230c0337 a0231c0343 a0232c0057 a0233c0142 a0235c0068 a0236c0067 a0238c0077 a0239c0076 a0240c0078 a0241c0079 a0242c0116 a0243c0115 a0244c0111 a0246c0113 a0247c0112 a0248c0109 a0253c0080 a0254c0081 a0255c0141 a0256c0082 a0257c0083 a0258c0106 a0259c0097 a0260c0103 a0261c0105 a0262c0104 a0263c0100 a0264c0099 a0265c0101 a0266c0098 a0267c0137 a0269c0123 a0272c0091 a0273c0090 a0274c0135 a0275c0120 a0276c0133 a0277c0121 a0278c0074 a0279c0087 a0280c0134 a0281c0132 a0282c0140 a0283c0130 a0284c0131 a0285c0124 a0286c0061 a0288c0086 a0289c0126 a0290c0128 a0291c0127 a0292c0125 a0293c0136 a0302c0066 a0303c0062 a0304c0064 a0305c0063 a0306c0058	a0003c0008t0003 a0003c0030t0003 a0003c0031t0003 others(188): Show a0003c0008t0003 a0003c0030t0003 a0003c0031t0003 a0003c0031t0024 a0007c0013t0002 a0007c0013t0006 a0007c0013t0012 a0007c0273t0002 a0008c0017t0002 a0008c0021t0002 a0009c0174t0014 a0009c0178t0014 a0009c0187t0014 a0010c0015t0001 a0010c0050t0001 a0011c0007t0001 a0014c0044t0002 a0014c0280t0006 a0015c0041t0003 a0015c0041t0013 a0015c0316t0003 a0017c0012t0001 a0018c0034t0001 a0018c0206t0001 a0021c0006t0002 a0021c0006t0007 a0022c0024t0002 a0022c0094t0006 a0023c0095t0002 a0023c0096t0002 a0023c0102t0002 a0025c0161t0001 a0025c0162t0001 a0026c0185t0002 a0026c0186t0002 a0029c0040t0001 a0029c0040t0004 a0030c0257t0002 a0030c0258t0002 a0033c0213t0002 a0033c0268t0006 a0037c0075t0002 a0037c0143t0002 a0038c0019t0002 a0038c0019t0012 a0039c0023t0002 a0039c0023t0007 a0041c0022t0002 a0042c0088t0002 a0042c0092t0002 a0043c0085t0026 a0043c0089t0002 a0044c0020t0002 a0045c0027t0002 a0045c0027t0006 a0046c0026t0002 a0047c0025t0002 a0049c0028t0002 a0051c0345t0002 a0053c0144t0002 a0055c0341t0016 a0061c0157t0004 a0062c0156t0004 a0068c0146t0003 a0069c0151t0004 a0070c0145t0001 a0072c0160t0009 a0073c0339t0009 a0075c0199t0003 a0076c0198t0003 a0079c0342t0003 a0080c0195t0003 a0081c0194t0003 a0082c0193t0003 a0089c0183t0002 a0090c0184t0007 a0091c0180t0002 a0092c0182t0013 a0093c0176t0007 a0094c0181t0007 a0096c0197t0002 a0097c0330t0004 a0098c0055t0009 a0100c0049t0010 a0104c0167t0001 a0105c0338t0007 a0106c0164t0009 a0107c0166t0009 a0108c0165t0009 a0109c0163t0009 a0114c0173t0001 a0115c0172t0001 a0116c0171t0009 a0120c0332t0003 a0121c0333t0004 a0122c0334t0003 a0123c0331t0004 a0124c0327t0005 a0128c0277t0022 a0129c0311t0013 a0130c0283t0006 a0132c0286t0004 a0133c0310t0003 a0141c0301t0001 a0153c0279t0002 a0154c0291t0002 a0157c0278t0002 a0158c0289t0002 a0159c0288t0023 a0162c0284t0002 a0163c0313t0002 a0164c0276t0006 a0165c0207t0002 a0166c0212t0003 a0175c0324t0001 a0187c0240t0001 a0194c0230t0021 a0202c0218t0002 a0206c0221t0002 a0207c0219t0006 a0208c0220t0002 a0210c0263t0002 a0211c0262t0002 a0215c0269t0002 a0216c0264t0002 a0217c0267t0002 a0218c0266t0002 a0219c0265t0002 a0222c0205t0002 a0223c0325t0016 a0224c0204t0005 a0225c0315t0003 a0228c0328t0003 a0230c0337t0002 a0231c0343t0001 a0232c0057t0002 a0233c0142t0002 a0235c0068t0002 a0236c0067t0002 a0238c0077t0002 a0239c0076t0002 a0240c0078t0002 a0241c0079t0002 a0242c0116t0003 a0243c0115t0013 a0244c0111t0002 a0246c0113t0002 a0247c0112t0001 a0248c0109t0005 a0253c0080t0007 a0254c0081t0002 a0255c0141t0002 a0256c0082t0002 a0257c0083t0002 a0258c0106t0002 a0259c0097t0002 a0260c0103t0002 a0261c0105t0002 a0262c0104t0002 a0263c0100t0002 a0264c0099t0007 a0265c0101t0025 a0266c0098t0002 a0267c0137t0003 a0269c0123t0002 a0272c0091t0002 a0273c0090t0007 a0274c0135t0007 a0275c0120t0002 a0276c0133t0007 a0277c0121t0002 a0278c0074t0002 a0279c0087t0002 a0280c0134t0006 a0281c0132t0002 a0282c0140t0002 a0283c0130t0002 a0284c0131t0002 a0285c0124t0007 a0286c0061t0002 a0288c0086t0002 a0289c0126t0002 a0290c0128t0001 a0291c0127t0002 a0292c0125t0002 a0293c0136t0002 a0302c0066t0002 a0303c0062t0006 a0304c0064t0006 a0305c0063t0006 a0306c0058t0002	a0003c0008t0003g0027 a0003c0008t0003g0360 a0003c0030t0003g0010 others(194): Show a0003c0008t0003g0027 a0003c0008t0003g0360 a0003c0030t0003g0010 a0003c0031t0003g0369 a0003c0031t0024g0368 a0007c0013t0002g0134 a0007c0013t0006g0133 a0007c0013t0012g0132 a0007c0273t0002g0131 a0008c0017t0002g0014 a0008c0021t0002g0015 a0009c0174t0014g0357 a0009c0178t0014g0350 a0009c0187t0014g0229 a0010c0015t0001g0202 a0010c0015t0001g0203 a0010c0050t0001g0204 a0011c0007t0001g0005 a0014c0044t0002g0018 a0014c0280t0006g0379 a0015c0041t0003g0140 a0015c0041t0013g0097 a0015c0316t0003g0227 a0017c0012t0001g0065 a0017c0012t0001g0066 a0017c0012t0001g0104 a0018c0034t0001g0012 a0018c0206t0001g0115 a0021c0006t0002g0028 a0021c0006t0007g0037 a0022c0024t0002g0153 a0022c0024t0002g0169 a0022c0094t0006g0152 a0023c0095t0002g0294 a0023c0096t0002g0318 a0023c0102t0002g0342 a0025c0161t0001g0196 a0025c0162t0001g0033 a0026c0185t0002g0354 a0026c0186t0002g0355 a0029c0040t0001g0060 a0029c0040t0004g0056 a0030c0257t0002g0243 a0030c0258t0002g0244 a0033c0213t0002g0118 a0033c0268t0006g0077 a0037c0075t0002g0316 a0037c0143t0002g0384 a0038c0019t0002g0245 a0038c0019t0012g0163 a0039c0023t0002g0278 a0039c0023t0007g0346 a0041c0022t0002g0023 a0042c0088t0002g0371 a0042c0092t0002g0377 a0043c0085t0026g0165 a0043c0089t0002g0042 a0044c0020t0002g0020 a0045c0027t0002g0363 a0045c0027t0006g0362 a0046c0026t0002g0302 a0046c0026t0002g0347 a0047c0025t0002g0024 a0049c0028t0002g0016 a0051c0345t0002g0280 a0053c0144t0002g0349 a0055c0341t0016g0255 a0061c0157t0004g0237 a0062c0156t0004g0241 a0068c0146t0003g0213 a0069c0151t0004g0052 a0070c0145t0001g0236 a0072c0160t0009g0036 a0073c0339t0009g0039 a0075c0199t0003g0340 a0076c0198t0003g0228 a0079c0342t0003g0338 a0080c0195t0003g0370 a0081c0194t0003g0100 a0082c0193t0003g0376 a0089c0183t0002g0352 a0090c0184t0007g0353 a0091c0180t0002g0374 a0092c0182t0013g0351 a0093c0176t0007g0106 a0094c0181t0007g0378 a0096c0197t0002g0101 a0097c0330t0004g0273 a0098c0055t0009g0211 a0100c0049t0010g0040 a0104c0167t0001g0208 a0105c0338t0007g0287 a0106c0164t0009g0224 a0107c0166t0009g0226 a0108c0165t0009g0225 a0109c0163t0009g0223 a0114c0173t0001g0064 a0115c0172t0001g0221 a0116c0171t0009g0200 a0120c0332t0003g0252 a0121c0333t0004g0253 a0122c0334t0003g0254 a0123c0331t0004g0251 a0124c0327t0005g0222 a0128c0277t0022g0032 a0129c0311t0013g0373 a0130c0283t0006g0220 a0132c0286t0004g0054 a0133c0310t0003g0075 a0141c0301t0001g0188 a0153c0279t0002g0375 a0154c0291t0002g0193 a0157c0278t0002g0067 a0158c0289t0002g0281 a0159c0288t0023g0136 a0162c0284t0002g0096 a0163c0313t0002g0190 a0164c0276t0006g0263 a0165c0207t0002g0336 a0166c0212t0003g0109 a0175c0324t0001g0147 a0187c0240t0001g0084 a0194c0230t0021g0057 a0202c0218t0002g0091 a0206c0221t0002g0265 a0207c0219t0006g0345 a0208c0220t0002g0312 a0210c0263t0002g0110 a0211c0262t0002g0329 a0215c0269t0002g0111 a0216c0264t0002g0184 a0217c0267t0002g0130 a0218c0266t0002g0330 a0219c0265t0002g0129 a0222c0205t0002g0114 a0223c0325t0016g0194 a0224c0204t0005g0073 a0225c0315t0003g0139 a0228c0328t0003g0148 a0230c0337t0002g0361 a0231c0343t0001g0256 a0232c0057t0002g0154 a0233c0142t0002g0030 a0235c0068t0002g0156 a0236c0067t0002g0155 a0238c0077t0002g0293 a0239c0076t0002g0292 a0240c0078t0002g0038 a0241c0079t0002g0089 a0242c0116t0003g0298 a0243c0115t0013g0297 a0244c0111t0002g0173 a0246c0113t0002g0083 a0247c0112t0001g0296 a0248c0109t0005g0257 a0253c0080t0007g0161 a0254c0081t0002g0162 a0255c0141t0002g0232 a0256c0082t0002g0164 a0257c0083t0002g0053 a0258c0106t0002g0170 a0259c0097t0002g0334 a0260c0103t0002g0282 a0261c0105t0002g0286 a0262c0104t0002g0285 a0263c0100t0002g0284 a0264c0099t0007g0168 a0265c0101t0025g0288 a0266c0098t0002g0090 a0267c0137t0003g0304 a0269c0123t0002g0337 a0272c0091t0002g0167 a0273c0090t0007g0372 a0274c0135t0007g0364 a0275c0120t0002g0174 a0276c0133t0007g0322 a0277c0121t0002g0175 a0278c0074t0002g0195 a0279c0087t0002g0166 a0280c0134t0006g0044 a0281c0132t0002g0303 a0282c0140t0002g0305 a0283c0130t0002g0310 a0284c0131t0002g0311 a0285c0124t0007g0309 a0286c0061t0002g0315 a0288c0086t0002g0381 a0289c0126t0002g0300 a0290c0128t0001g0301 a0291c0127t0002g0242 a0292c0125t0002g0279 a0293c0136t0002g0344 a0302c0066t0002g0383 a0303c0062t0006g0081 a0304c0064t0006g0276 a0305c0063t0006g0082 a0306c0058t0002g0234	210	424	0.4953	-6	c.139 others(17): Show c.13925_13930delAGGCCG	p.Glu others(15): Show p.Glu4642_Ala4643del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	14005/16005	13925/15267	4642/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143859329	TCGGCCTC others(1595): Show TCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGA GGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATC TGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGG AGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCAT CACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCA CGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGG TCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGT GTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAGGACAC GGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGC ACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGC CTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGG CCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTG ACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCAC GCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGT CGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTG CCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTC CTGGTGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGC TGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGC AGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGAT CCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGA AGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGG ACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAG GAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCC ACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTG GCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGTGGCGGCGGC GGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCG AGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAG GCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGAT GATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGC CAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGAC GCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTT GACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGC TCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00558.hp1 NA18956.hp1 NA18975.hp1 others(2): Show HG00558.hp1 NA18956.hp1 NA18975.hp1 NA19007.hp1 NA19064.hp2	a0004 a0137 a0004 a0137	a0004c0011 a0004c0234 a0137c0297 a0004c0011 a0004c0234 a0137c0297	a0004c0011t0001 a0004c0234t0005 a0137c0297t0001 a0004c0011t0001 a0004c0234t0005 a0137c0297t0001	a0004c0011t0001g0006 a0004c0234t0005g0268 a0137c0297t0001g0138 a0004c0011t0001g0006 a0004c0234t0005g0268 a0137c0297t0001g0138	5	424	0.0118	-1602	c.123 others(11): Show c.12323_13924del	p.Gly others(15): Show p.Gly4108_Ala4641del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	13999/16005	12323/15267	4108/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143859329	TCGGCCTC others(3197): Show TCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGA GGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATC TGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGG AGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCAT CACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCA CGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGG TCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGT GTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAGGACAC GGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGC ACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGC CTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGG CCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTG ACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCAC GCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGT CGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTG CCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTC CTGGTGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGC TGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGC AGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGAT CCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGA AGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGG ACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAG GAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCC ACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTG GCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGTGGCGGCGGC GGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCG AGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAG GCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGAT GATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGC CAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGAC GCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTT GACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGC TCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGC GAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTA TCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGA GGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGC GTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTG CACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCG GGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGC GTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGAC ACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGG GCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGG GCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCAT GGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGG TGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACC ACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGG GTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCG TGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTC TCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCA GCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCT GCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGG ATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCG GAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGA GGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCC AGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTC CCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGG TGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGTGGCGGCG GCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCC CGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCC AGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCG ATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGA GCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGG ACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACC TTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGG GCTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA20129.hp1 NA20129.hp1	a0071 a0071	a0071c0347 a0071c0347	a0071c0347t0001 a0071c0347t0001	a0071c0347t0001g0063 a0071c0347t0001g0063	1	424	0.0024	-3204	c.107 others(11): Show c.10721_13924del	p.Gly others(15): Show p.Gly3574_Ala4641del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	13999/16005	10721/15267	3574/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143859400	CTCCACGG others(4790): Show CTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCC GGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTC TGGCCCTGGAGGGCGCCCGAGCCTGGCATCACGCGGGCGTCGCGCAGGGC ACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCA GCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGC AGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTT GGTGTCGTCGCTGGGGTGGGCCAGGACACGGTTCATCTCCTCGTCGAAGT AGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGG TCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTG CTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCT GCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGC AGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTC CACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCG CCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTC CACATGGCCTGGTAGATGCTCATCTTCTCCTGGTGGCCGGGCTGGTCCTT GGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCT TGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCC AGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGA GGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCT CCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGG CCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTC GCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCT GGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCC TGGCGGCGGGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTC CCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGG CTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGG GCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGT CAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCT CCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGC ACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACG CAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCC GGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGC TCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCG CCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGC TCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGG GCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGC CAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCA GCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCC TTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAA GTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGG GGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCG TGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTG CTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACA GCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCC TCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGC CGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCT TCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCC TTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCG CTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGG CCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCG GAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCG CTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCA GGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCC TCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCC CTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCT CCTGGCGGCGGGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCC TCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCC GGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCC GGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGG GTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTC CTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGG GCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCA CGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGC CCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCA GCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGG CGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGAC GCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCA GGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCT GCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCG CAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGC CCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCG AAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCAC GGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGC CGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATC TGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGA CAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCT CCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTG GCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCC CTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGT CCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAG CGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTG GGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCT CGGAGGCGGACACCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGC CGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGG CAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGG CCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGC CCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTG CTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCT GGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGC CCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCC GGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCG CGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGG GCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGC GCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGG CCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCC TGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19030.hp1 NA19064.hp1 NA19030.hp1 NA19064.hp1	a0223 a0246 a0223 a0246	a0223c0325 a0246c0113 a0223c0325 a0246c0113	a0223c0325t0016 a0246c0113t0002 a0223c0325t0016 a0246c0113t0002	a0223c0325t0016g0194 a0246c0113t0002g0083 a0223c0325t0016g0194 a0246c0113t0002g0083	2	424	0.0047	-4797	c.905 others(10): Show c.9057_13853del	p.Glu others(15): Show p.Glu3020_Glu4618del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	13928/16005	9057/15267	3019/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143860133	TGGCCGGG others(1595): Show TGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGT GCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCG TCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCG GACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGA CACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGG CGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGC TCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACAC GGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCAT CACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGTGGCGGCGGCGGCC TCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTC GCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGT CCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATG GCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAA CTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCA GCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACC TCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCC GGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGG TGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTG CTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAG CTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCA CGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACG GCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTC GGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGT TGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGG TTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCAC GCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCT CCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCC TGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGAC GGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGC CCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCG ATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCC GGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCT GGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00544.hp1 HG00733.hp2 HG02027.hp2 others(9): Show HG00544.hp1 HG00733.hp2 HG02027.hp2 HG02723.hp1 NA18612.hp1 NA18947.hp1 NA18950.hp1 NA18956.hp2 NA18973.hp1 NA18995.hp2 NA18997.hp1 NA19000.hp1	a0013 a0020 a0035 others(4): Show a0013 a0020 a0035 a0064 a0138 a0151 a0229	a0013c0014 a0020c0032 a0020c0223 others(5): Show a0013c0014 a0020c0032 a0020c0223 a0035c0043 a0064c0150 a0138c0282 a0151c0281 a0229c0336	a0013c0014t0008 a0013c0014t0011 a0020c0032t0008 others(7): Show a0013c0014t0008 a0013c0014t0011 a0020c0032t0008 a0020c0032t0015 a0020c0223t0015 a0035c0043t0011 a0064c0150t0001 a0138c0282t0001 a0151c0281t0008 a0229c0336t0011	a0013c0014t0008g0137 a0013c0014t0011g0021 a0020c0032t0008g0098 others(8): Show a0013c0014t0008g0137 a0013c0014t0011g0021 a0020c0032t0008g0098 a0020c0032t0015g0087 a0020c0223t0015g0388 a0035c0043t0011g0079 a0035c0043t0011g0149 a0064c0150t0001g0051 a0138c0282t0001g0201 a0151c0281t0008g0135 a0229c0336t0011g0080	12	424	0.0283	-1602	c.115 others(11): Show c.11519_13120del	p.Arg others(15): Show p.Arg3840_Gly4373del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	13195/16005	11519/15267	3840/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143861360	CGGTAGGC others(3188): Show CGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGAC GCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGA CGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTG TAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTC CTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACA GCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCC TCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGC CTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCA CCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAG TCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCG CAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACA CCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTC TCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGC GCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGT ACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGC CCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCG GGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGC CCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCT GGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGG GGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGG GCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCG GCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCG CCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCT CCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGG GCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCAC GGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCT CGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCC TGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCG CAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCA GCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGC ACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTC GTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGC GCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATG ACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCG GACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGG TGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTC TCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGA CAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCG CCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATG GCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGG CACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCG AGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCC CGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGA CACCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCG TCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGG GCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAG GTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACT GCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGG CGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCG CTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCC GCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCC TCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTC CAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGC TCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGG AGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGG GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAGC GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp2 NA19030.hp2 HG00140.hp2 NA19030.hp2	a0055 a0300 a0055 a0300	a0055c0341 a0300c0073 a0055c0341 a0300c0073	a0055c0341t0016 a0300c0073t0001 a0055c0341t0016 a0300c0073t0001	a0055c0341t0016g0255 a0300c0073t0001g0160 a0055c0341t0016g0255 a0300c0073t0001g0160	2	424	0.0047	-3195	c.869 others(10): Show c.8699_11893del	p.Gln others(15): Show p.Gln2900_Tyr3964del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	11968/16005	8699/15267	2900/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143862962	CGGTAGGC others(1586): Show CGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGAC GCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGA CGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTG TAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTC CTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACA GCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCC TCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGC CTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCA CCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAG TCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCG CAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACA CCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTC TCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGC GCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGT ACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGC CCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCG GGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCT GGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGC GGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTC GGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCA GGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTC ACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAG GCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGT CTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCC TGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAGCGT GCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCT CGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCG CCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTC GCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGA GCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTG AGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGG GTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00738.hp1 HG00741.hp1 others(27): Show HG00099.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG02074.hp1 HG02080.hp1 HG02293.hp1 HG02647.hp1 HG02735.hp2 HG02886.hp2 HG03209.hp2 HG03453.hp2 HG04204.hp1 HG04228.hp2 NA18945.hp2 NA18954.hp2 NA18977.hp2 NA18983.hp2 NA18991.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19089.hp1	a0007 a0010 a0014 others(18): Show a0007 a0010 a0014 a0044 a0045 a0089 a0094 a0145 a0148 a0157 a0167 a0199 a0210 a0215 a0256 a0260 a0261 a0262 a0274 a0290 a0291	a0007c0013 a0007c0273 a0010c0015 others(21): Show a0007c0013 a0007c0273 a0010c0015 a0010c0050 a0014c0044 a0014c0280 a0044c0020 a0045c0027 a0089c0183 a0094c0181 a0145c0309 a0148c0303 a0157c0278 a0167c0215 a0199c0252 a0210c0263 a0215c0269 a0256c0082 a0260c0103 a0261c0105 a0262c0104 a0274c0135 a0290c0128 a0291c0127	a0007c0013t0002 a0007c0013t0006 a0007c0013t0012 others(24): Show a0007c0013t0002 a0007c0013t0006 a0007c0013t0012 a0007c0273t0002 a0010c0015t0001 a0010c0050t0001 a0014c0044t0002 a0014c0280t0006 a0044c0020t0002 a0045c0027t0002 a0045c0027t0006 a0089c0183t0002 a0094c0181t0007 a0145c0309t0001 a0148c0303t0001 a0157c0278t0002 a0167c0215t0005 a0199c0252t0001 a0210c0263t0002 a0215c0269t0002 a0256c0082t0002 a0260c0103t0002 a0261c0105t0002 a0262c0104t0002 a0274c0135t0007 a0290c0128t0001 a0291c0127t0002	a0007c0013t0002g0134 a0007c0013t0006g0133 a0007c0013t0012g0132 others(25): Show a0007c0013t0002g0134 a0007c0013t0006g0133 a0007c0013t0012g0132 a0007c0273t0002g0131 a0010c0015t0001g0202 a0010c0015t0001g0203 a0010c0050t0001g0204 a0014c0044t0002g0018 a0014c0280t0006g0379 a0044c0020t0002g0020 a0045c0027t0002g0363 a0045c0027t0006g0362 a0089c0183t0002g0352 a0094c0181t0007g0378 a0145c0309t0001g0062 a0148c0303t0001g0199 a0157c0278t0002g0067 a0167c0215t0005g0119 a0199c0252t0001g0127 a0210c0263t0002g0110 a0215c0269t0002g0111 a0256c0082t0002g0164 a0260c0103t0002g0282 a0261c0105t0002g0286 a0262c0104t0002g0285 a0274c0135t0007g0364 a0290c0128t0001g0301 a0291c0127t0002g0242	30	424	0.0708	-1593	c.869 others(10): Show c.8699_10291del	p.Gln others(15): Show p.Gln2900_Tyr3430del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	10366/16005	8699/15267	2900/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143864144	CGGGCCT CGGGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp1 HG02257.hp1 HG02922.hp2 others(2): Show HG01884.hp1 HG02257.hp1 HG02922.hp2 HG02976.hp2 NA18997.hp1	a0019 a0054 a0229 a0019 a0054 a0229	a0019c0038 a0019c0245 a0054c0340 others(1): Show a0019c0038 a0019c0245 a0054c0340 a0229c0336	a0019c0038t0001 a0019c0038t0004 a0019c0245t0001 others(2): Show a0019c0038t0001 a0019c0038t0004 a0019c0245t0001 a0054c0340t0027 a0229c0336t0011	a0019c0038t0001g0209 a0019c0038t0004g0125 a0019c0245t0001g0210 others(2): Show a0019c0038t0001g0209 a0019c0038t0004g0125 a0019c0245t0001g0210 a0054c0340t0027g0045 a0229c0336t0011g0080	5	424	0.0118	-6	c.910 others(15): Show c.9104_9109delAGGCCC	p.Gln others(15): Show p.Gln3035_Ala3036del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	9184/16005	9104/15267	3035/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143864197	TTCCACGG others(1601): Show TTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCC GGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTC TGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGC ACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCA GCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGC AGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTT GGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGT AGCCGCGCTGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGG TCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTG CTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCT GCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGC AGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTC CACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCG CCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTC CACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTT GGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCT TGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCC AGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGA GGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCT CCTCGGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGG CCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTC GCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCT GGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCC TGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTC GCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTC GCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGC GGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCG GCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCA GCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCAC ACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGC CGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCT CGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCG CCCAGCTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp2 HG06807.hp1 HG00639.hp2 HG06807.hp1	a0150 a0301 a0150 a0301	a0150c0287 a0301c0069 a0150c0287 a0301c0069	a0150c0287t0001 a0301c0069t0001 a0150c0287t0001 a0301c0069t0001	a0150c0287t0001g0270 a0301c0069t0001g0157 a0150c0287t0001g0270 a0301c0069t0001g0157	2	424	0.0047	-1608	c.744 others(9): Show c.7449_9056del	p.Glu others(15): Show p.Glu2484_Glu3019del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	9131/16005	7449/15267	2483/5088		chr8	TogoVar
EPPK1_chr8_143852324_143883467	143865752	CGGGCCT CGGGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp1 HG00423.hp1 HG00673.hp2 others(17): Show HG00408.hp1 HG00423.hp1 HG00673.hp2 HG01106.hp2 HG01884.hp1 HG02109.hp1 HG02145.hp2 HG02559.hp1 HG02717.hp1 HG02970.hp2 HG03195.hp1 HG03471.hp1 HG03516.hp2 NA18906.hp2 NA18972.hp1 NA18974.hp1 NA19030.hp1 NA19058.hp1 NA19084.hp2 NA19240.hp1	a0015 a0054 a0065 others(15): Show a0015 a0054 a0065 a0066 a0067 a0068 a0073 a0075 a0078 a0079 a0092 a0120 a0129 a0160 a0163 a0223 a0228 a0242	a0015c0041 a0015c0316 a0054c0340 others(16): Show a0015c0041 a0015c0316 a0054c0340 a0065c0149 a0066c0148 a0067c0147 a0068c0146 a0073c0339 a0075c0199 a0078c0177 a0079c0342 a0092c0182 a0120c0332 a0129c0311 a0160c0317 a0163c0313 a0223c0325 a0228c0328 a0242c0116	a0015c0041t0003 a0015c0041t0013 a0015c0316t0003 others(17): Show a0015c0041t0003 a0015c0041t0013 a0015c0316t0003 a0054c0340t0027 a0065c0149t0002 a0066c0148t0007 a0067c0147t0002 a0068c0146t0003 a0073c0339t0009 a0075c0199t0003 a0078c0177t0003 a0079c0342t0003 a0092c0182t0013 a0120c0332t0003 a0129c0311t0013 a0160c0317t0003 a0163c0313t0002 a0223c0325t0016 a0228c0328t0003 a0242c0116t0003	a0015c0041t0003g0140 a0015c0041t0013g0097 a0015c0316t0003g0227 others(17): Show a0015c0041t0003g0140 a0015c0041t0013g0097 a0015c0316t0003g0227 a0054c0340t0027g0045 a0065c0149t0002g0219 a0066c0148t0007g0218 a0067c0147t0002g0217 a0068c0146t0003g0213 a0073c0339t0009g0039 a0075c0199t0003g0340 a0078c0177t0003g0339 a0079c0342t0003g0338 a0092c0182t0013g0351 a0120c0332t0003g0252 a0129c0311t0013g0373 a0160c0317t0003g0141 a0163c0313t0002g0190 a0223c0325t0016g0194 a0228c0328t0003g0148 a0242c0116t0003g0298	20	424	0.0472	-6	c.749 others(15): Show c.7496_7501delAGGCCC	p.Gln others(15): Show p.Gln2499_Ala2500del	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	2/2	7576/16005	7496/15267	2499/5088		chr8	TogoVar
ERICH3_chr1_74563123_74678792	74572173	CCCT CCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG00438.hp2 HG00621.hp2 others(52): Show HG00140.hp1 HG00438.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01257.hp1 HG01358.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02083.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02630.hp1 HG02723.hp1 HG02735.hp2 HG03239.hp1 NA18941.hp2 NA18943.hp2 NA18954.hp2 NA18962.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp1 NA18984.hp1 NA18992.hp1 NA18999.hp1 NA19001.hp2 NA19005.hp2 NA19006.hp1 NA19009.hp2 NA19060.hp1 NA19062.hp1 NA19068.hp2 NA19074.hp1 NA19083.hp2 NA19086.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0003 a0015 a0020 others(1): Show a0003 a0015 a0020 a0030	a0003c0003 a0015c0017 a0020c0023 others(1): Show a0003c0003 a0015c0017 a0020c0023 a0030c0037	a0003c0003t0001 a0003c0003t0002 a0015c0017t0001 others(2): Show a0003c0003t0001 a0003c0003t0002 a0015c0017t0001 a0020c0023t0001 a0030c0037t0001	a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0004 others(48): Show a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0004 a0003c0003t0001g0007 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0056 a0003c0003t0001g0058 a0003c0003t0001g0071 a0003c0003t0001g0072 a0003c0003t0001g0073 a0003c0003t0001g0074 a0003c0003t0001g0076 a0003c0003t0001g0078 a0003c0003t0001g0082 a0003c0003t0001g0084 a0003c0003t0001g0101 a0003c0003t0001g0103 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0117 a0003c0003t0001g0126 a0003c0003t0001g0140 a0003c0003t0001g0159 a0003c0003t0001g0161 a0003c0003t0001g0168 a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0206 a0003c0003t0001g0208 a0003c0003t0001g0209 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0245 a0003c0003t0001g0256 a0003c0003t0001g0258 a0003c0003t0001g0259 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0276 a0003c0003t0002g0191 a0015c0017t0001g0047 a0015c0017t0001g0257 a0020c0023t0001g0162 a0030c0037t0001g0192	55	290	0.1897	-3	c.353 others(12): Show c.3534_3536delAGG	p.Gly others(7): Show p.Gly1179del	ERICH3	ENSG00000178965.14	transcript	ENST00000326665.10	protein_coding	14/15	3809/7201	3534/4593	1178/1530		chr1	TogoVar
ERICH6B_chr13_45536294_45620739	45596584	CCCAGATA others(11): Show CCCAGATACTCTTCCTCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00280.hp2 HG00423.hp1 others(72): Show HG00099.hp1 HG00280.hp2 HG00423.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01123.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp1 HG02683.hp1 HG02735.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03579.hp2 HG03688.hp2 HG03942.hp2 HG04199.hp1 HG06807.hp2 NA18747.hp1 NA18939.hp1 NA18948.hp2 NA18950.hp1 NA18955.hp1 NA18969.hp1 NA18971.hp2 NA18988.hp2 NA18990.hp1 NA18995.hp1 NA18997.hp1 NA19009.hp1 NA19010.hp2 NA19064.hp2 NA19084.hp2 NA19085.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0002 a0009 a0016 others(4): Show a0002 a0009 a0016 a0020 a0030 a0031 a0032	a0002c0002 a0009c0009 a0009c0044 others(5): Show a0002c0002 a0009c0009 a0009c0044 a0016c0017 a0020c0021 a0030c0047 a0031c0045 a0032c0046	a0002c0002t0001 a0002c0002t0002 a0009c0009t0001 others(6): Show a0002c0002t0001 a0002c0002t0002 a0009c0009t0001 a0009c0044t0001 a0016c0017t0001 a0020c0021t0001 a0030c0047t0002 a0031c0045t0002 a0032c0046t0001	a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0009 others(69): Show a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0144 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0159 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0196 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0220 a0002c0002t0001g0228 a0002c0002t0001g0251 a0002c0002t0001g0278 a0002c0002t0001g0280 a0002c0002t0001g0288 a0002c0002t0001g0301 a0002c0002t0002g0276 a0002c0002t0002g0277 a0009c0009t0001g0101 a0009c0009t0001g0145 a0009c0009t0001g0146 a0009c0009t0001g0158 a0009c0009t0001g0160 a0009c0009t0001g0164 a0009c0009t0001g0279 a0009c0044t0001g0187 a0016c0017t0001g0102 a0016c0017t0001g0103 a0016c0017t0001g0176 a0020c0021t0001g0226 a0020c0021t0001g0227 a0030c0047t0002g0213 a0031c0045t0002g0219 a0032c0046t0001g0151	75	326	0.2301	-18	c.404 others(25): Show c.404_421delAGGAGGAAGAGTATCTGG	p.Glu others(13): Show p.Glu135_Leu140del	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	3/15	586/2424	404/2091	135/696		chr13	TogoVar
ERICH6B_chr13_45536294_45620739	45596589	ATACTCTT others(29): Show ATACTCTTCCTCCTCCAGATGCTCTTCCTTCCCCAGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp2 HG00438.hp2 HG00423.hp2 HG00438.hp2	a0021 a0021	a0021c0022 a0021c0022	a0021c0022t0001 a0021c0022t0001	a0021c0022t0001g0285 a0021c0022t0001g0286 a0021c0022t0001g0285 a0021c0022t0001g0286	2	326	0.0061	-36	c.381 others(43): Show c.381_416delCCTGGGGAAGGAAGAGCATCTGGAGGAGGAAGAGTA	p.Leu others(13): Show p.Leu128_Tyr139del	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	3/15	581/2424	381/2091	127/696		chr13	TogoVar
ERICH6_chr3_150654885_150708920	150703740	CTCCTCCT others(14): Show CTCCTCCTCCTCCTCCACCTCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp2 HG02615.hp2 HG01884.hp2 HG02615.hp2	a0029 a0030 a0029 a0030	a0029c0036 a0030c0035 a0029c0036 a0030c0035	a0029c0036t0001 a0030c0035t0001 a0029c0036t0001 a0030c0035t0001	a0029c0036t0001g0306 a0030c0035t0001g0307 a0029c0036t0001g0306 a0030c0035t0001g0307	2	348	0.0058	-21	c.138 others(28): Show c.138_158delAGAGGTGGAGGAGGAGGAGGA	p.Glu others(11): Show p.Glu47_Glu53del	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	1/14	180/2021	138/1992	46/663		chr3	TogoVar
ERICH6_chr3_150654885_150708920	150703803	TTCCTCCT others(5): Show TTCCTCCTCCTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18957.hp2 NA18957.hp2	a0033 a0033	a0033c0019 a0033c0019	a0033c0019t0001 a0033c0019t0001	a0033c0019t0001g0014 a0033c0019t0001g0014	1	348	0.0029	-12	c.84_ others(17): Show c.84_95delGGAGGAGGAGGA	p.Glu others(11): Show p.Glu29_Glu32del	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	1/14	117/2021	84/1992	28/663		chr3	TogoVar
ESX1_chrX_104245038_104259933	104250409	GGCGCCAT others(20): Show GGCGCCATGGGCGGCCCGGGTGGCACAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01943.hp1 HG01943.hp1	a0024 a0024	a0024c0021 a0024c0021	a0024c0021t0001 a0024c0021t0001	a0024c0021t0001g0045 a0024c0021t0001g0045	1	313	0.0032	-27	c.101 others(36): Show c.1013_1039delGTGTGCCACCCGGGCCGCCCATGGCGC	p.Arg others(13): Show p.Arg338_Ala346del	ESX1	ENSG00000123576.5	transcript	ENST00000372588.4	protein_coding	4/4	1123/1495	1013/1221	338/406		chrX	TogoVar
ESX1_chrX_104245038_104259933	104250463	CGCGCCAT others(20): Show CGCGCCATGGGCGGCCCGGGTGGCACAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02004.hp2 HG02683.hp1 HG03490.hp1 others(1): Show HG02004.hp2 HG02683.hp1 HG03490.hp1 NA20300.hp2	a0010 a0029 a0010 a0029	a0010c0011 a0029c0026 a0010c0011 a0029c0026	a0010c0011t0001 a0029c0026t0001 a0010c0011t0001 a0029c0026t0001	a0010c0011t0001g0018 a0029c0026t0001g0046 a0010c0011t0001g0018 a0029c0026t0001g0046	4	313	0.0128	-27	c.959 others(34): Show c.959_985delCTGTGCCACCCGGGCCGCCCATGGCGC	p.Pro others(13): Show p.Pro320_Ala328del	ESX1	ENSG00000123576.5	transcript	ENST00000372588.4	protein_coding	4/4	1069/1495	959/1221	320/406		chrX	TogoVar
EVC_chr4_5706201_5819305	5741743	CTCCTTGA others(20): Show CTCCTTGACCTTCTTCCTAAAAAGAAGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03654.hp2 HG03654.hp2	a0059 a0059	a0059c0046 a0059c0046	a0059c0046t0001 a0059c0046t0001	a0059c0046t0001g0034 a0059c0046t0001g0034	1	369	0.0027	-27	c.731 others(34): Show c.731_757delTCCTTGACCTTCTTCCTAAAAAGAAGT	p.Leu others(19): Show p.Leu244_Ser253delinsPro	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding	6/21	911/6427	731/2979	244/992		chr4	TogoVar
EVX2_chr2_176072472_176088962	176080281	ACCG ACCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18940.hp1 NA18977.hp2 NA18990.hp1 others(1): Show NA18940.hp1 NA18977.hp2 NA18990.hp1 NA19058.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0017 a0002c0005t0001g0017	4	430	0.0093	-3	c.125 others(12): Show c.1254_1256delCGG	p.Gly others(6): Show p.Gly419del	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding	3/3	1442/4252	1254/1431	418/476		chr2	TogoVar
F8A3_chrX_155451914_155463620	155458169	GAGGGCGG others(50): Show GAGGGCGGCGGCGGCGGCCGGCTGGCCCAGCTCGAGGTGCAGACGCACCG CGGCGCCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19076.hp1 NA19076.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0000 a0002c0004t0001g0000	1	270	0.0037	-57	c.375 others(64): Show c.375_431delGGGCGCCGCGGTGCGTCTGCACCTCGAGCTGGGCCAGC CGGCCGCCGCCGCCGCCCT	p.Gly others(13): Show p.Gly126_Leu144del	F8A3	ENSG00000277150.2	transcript	ENST00000622749.2	protein_coding	1/1	451/1707	375/1116	125/371		chrX	TogoVar
FADS6_chr17_74872302_74898633	74893497	CGGTTCCA others(11): Show CGGTTCCATGGGCTCCGTA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01993.hp1 HG03516.hp1 HG03669.hp1 others(6): Show HG01993.hp1 HG03516.hp1 HG03669.hp1 NA18906.hp1 NA18962.hp1 NA18965.hp1 NA19007.hp1 NA19077.hp2 NA19088.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0002 a0006c0006t0004 a0006c0006t0001 a0006c0006t0002 a0006c0006t0004	a0006c0006t0001g0078 a0006c0006t0001g0079 a0006c0006t0001g0080 others(6): Show a0006c0006t0001g0078 a0006c0006t0001g0079 a0006c0006t0001g0080 a0006c0006t0001g0081 a0006c0006t0001g0082 a0006c0006t0002g0084 a0006c0006t0002g0085 a0006c0006t0002g0086 a0006c0006t0004g0083	9	440	0.0205	-18	c.81_ others(23): Show c.81_98delTACGGAGCCCATGGAACC	p.Thr others(11): Show p.Thr28_Pro33del	FADS6	ENSG00000172782.13	transcript	ENST00000612771.5	protein_coding	1/6	136/2174	81/1107	27/368		chr17	TogoVar
FADS6_chr17_74872302_74898633	74893497	CGGTTCCA others(29): Show CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp1 HG04199.hp1 HG00639.hp1 HG04199.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0002 a0009c0014t0001 a0009c0014t0002	a0009c0014t0001g0075 a0009c0014t0002g0076 a0009c0014t0001g0075 a0009c0014t0002g0076	2	440	0.0046	-36	c.63_ others(41): Show c.63_98delTACGGAGCCCATGGAACCTACGGAGCCCATGGAACC	p.Thr others(11): Show p.Thr22_Pro33del	FADS6	ENSG00000172782.13	transcript	ENST00000612771.5	protein_coding	1/6	136/2174	63/1107	21/368		chr17	TogoVar
FADS6_chr17_74872302_74898633	74893524	GGGCTCCG others(47): Show GGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTT CCATC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00735.hp2 HG01069.hp2 HG01071.hp2 others(47): Show HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03927.hp1 HG06807.hp1 NA18747.hp1 NA18946.hp2 NA18970.hp1 NA18991.hp1 NA19004.hp1 NA19030.hp2 NA19043.hp2 NA19068.hp1 NA19085.hp1 NA19240.hp2	a0003 a0005 a0010 others(1): Show a0003 a0005 a0010 a0011	a0003c0003 a0003c0012 a0005c0005 others(3): Show a0003c0003 a0003c0012 a0005c0005 a0005c0016 a0010c0017 a0011c0015	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(9): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0012t0010 a0005c0005t0001 a0005c0005t0002 a0005c0005t0003 a0005c0005t0006 a0005c0005t0017 a0005c0016t0004 a0010c0017t0007 a0011c0015t0001	a0003c0003t0001g0001 a0003c0003t0001g0045 a0003c0003t0001g0047 others(35): Show a0003c0003t0001g0001 a0003c0003t0001g0045 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0051 a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0054 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0058 a0003c0003t0001g0059 a0003c0003t0001g0065 a0003c0003t0001g0067 a0003c0003t0002g0009 a0003c0003t0002g0066 a0003c0003t0003g0044 a0003c0012t0010g0046 a0003c0012t0010g0060 a0005c0005t0001g0037 a0005c0005t0001g0055 a0005c0005t0001g0061 a0005c0005t0001g0063 a0005c0005t0001g0064 a0005c0005t0001g0068 a0005c0005t0001g0069 a0005c0005t0002g0008 a0005c0005t0002g0039 a0005c0005t0002g0041 a0005c0005t0002g0043 a0005c0005t0003g0062 a0005c0005t0003g0070 a0005c0005t0006g0040 a0005c0005t0017g0042 a0005c0016t0004g0038 a0010c0017t0007g0071 a0011c0015t0001g0050	50	440	0.1136	-54	c.18_ others(59): Show c.18_71delGATGGAACCTACGGAGCCCATGGAACCTACGGAGCCCATG GAACCTACGGAGCC	p.Met others(10): Show p.Met7_Pro24del	FADS6	ENSG00000172782.13	transcript	ENST00000612771.5	protein_coding	1/6	109/2174	18/1107	6/368		chr17	TogoVar
FAIM2_chr12_49861896_49908900	49897549	GTCACCAG others(26): Show GTCACCAGCAGCTGAATCAGCAGGATGGTGTAGA	G G	disruptive_inframe_deletion others(1): Show disruptive_inframe_deletion splice_region_variant	MODERATE	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0227 a0003c0004t0001g0227	1	436	0.0023	-33	c.317 others(40): Show c.317_349delTCTACACCATCCTGCTGATTCAGCTGCTGGTGA	p.Val others(19): Show p.Val106_Thr117delinsAla	FAIM2	ENSG00000135472.9	transcript	ENST00000320634.8	protein_coding	4/12	457/4667	317/951	106/316		chr12	TogoVar
FAM174B_chr15_92612448_92660775	92655448	TTGGAGC TTGGAGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(378): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0003 a0001c0006 others(8): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008 a0003c0004 a0004c0005 a0005c0012 a0006c0010 a0007c0009 a0008c0011 a0009c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(75): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0003t0002 a0001c0006t0002 a0001c0006t0024 a0001c0008t0001 a0003c0004t0004 a0003c0004t0016 a0003c0004t0037 a0004c0005t0001 a0004c0005t0042 a0005c0012t0003 a0006c0010t0012 a0007c0009t0005 a0008c0011t0025 a0009c0007t0001	a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0049 others(372): Show a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0171 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0319 a0001c0001t0001g0330 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0002g0005 a0001c0001t0002g0022 a0001c0001t0002g0056 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0125 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0159 a0001c0001t0002g0168 a0001c0001t0002g0173 a0001c0001t0002g0188 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0224 a0001c0001t0002g0263 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0284 a0001c0001t0002g0297 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0309 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0003g0001 a0001c0001t0003g0018 a0001c0001t0003g0060 a0001c0001t0003g0067 a0001c0001t0003g0080 a0001c0001t0003g0088 a0001c0001t0003g0116 a0001c0001t0003g0124 a0001c0001t0003g0130 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0143 a0001c0001t0003g0149 a0001c0001t0003g0161 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0178 a0001c0001t0003g0182 a0001c0001t0003g0192 a0001c0001t0003g0195 a0001c0001t0003g0198 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0264 a0001c0001t0003g0267 a0001c0001t0003g0269 a0001c0001t0003g0271 a0001c0001t0003g0318 a0001c0001t0003g0320 a0001c0001t0003g0324 a0001c0001t0003g0326 a0001c0001t0003g0334 a0001c0001t0004g0046 a0001c0001t0004g0048 a0001c0001t0004g0064 a0001c0001t0004g0085 a0001c0001t0004g0093 a0001c0001t0004g0114 a0001c0001t0004g0131 a0001c0001t0004g0165 a0001c0001t0004g0181 a0001c0001t0004g0204 a0001c0001t0004g0232 a0001c0001t0004g0245 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0266 a0001c0001t0004g0291 a0001c0001t0004g0293 a0001c0001t0004g0316 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0004g0340 a0001c0001t0004g0347 a0001c0001t0005g0071 a0001c0001t0005g0073 a0001c0001t0005g0129 a0001c0001t0005g0135 a0001c0001t0005g0167 a0001c0001t0005g0169 a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0005g0180 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0201 a0001c0001t0005g0210 a0001c0001t0005g0211 a0001c0001t0005g0214 a0001c0001t0005g0225 a0001c0001t0005g0230 a0001c0001t0005g0231 a0001c0001t0005g0244 a0001c0001t0005g0258 a0001c0001t0005g0307 a0001c0001t0005g0323 a0001c0001t0005g0325 a0001c0001t0005g0356 a0001c0001t0005g0357 a0001c0001t0005g0360 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0006g0078 a0001c0001t0006g0091 a0001c0001t0006g0141 a0001c0001t0006g0152 a0001c0001t0006g0183 a0001c0001t0006g0203 a0001c0001t0006g0235 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0242 a0001c0001t0006g0243 a0001c0001t0006g0261 a0001c0001t0006g0262 a0001c0001t0006g0265 a0001c0001t0006g0270 a0001c0001t0006g0298 a0001c0001t0006g0331 a0001c0001t0006g0332 a0001c0001t0007g0023 a0001c0001t0007g0025 a0001c0001t0007g0044 a0001c0001t0007g0063 a0001c0001t0007g0081 a0001c0001t0007g0111 a0001c0001t0007g0126 a0001c0001t0007g0138 a0001c0001t0007g0145 a0001c0001t0007g0154 a0001c0001t0007g0170 a0001c0001t0007g0194 a0001c0001t0007g0207 a0001c0001t0007g0248 a0001c0001t0007g0250 a0001c0001t0007g0255 a0001c0001t0007g0256 a0001c0001t0007g0268 a0001c0001t0007g0348 a0001c0001t0008g0012 a0001c0001t0008g0015 a0001c0001t0008g0052 a0001c0001t0008g0066 a0001c0001t0008g0089 a0001c0001t0008g0177 a0001c0001t0008g0179 a0001c0001t0008g0191 a0001c0001t0008g0228 a0001c0001t0008g0280 a0001c0001t0008g0306 a0001c0001t0009g0019 a0001c0001t0009g0020 a0001c0001t0009g0029 a0001c0001t0009g0054 a0001c0001t0009g0117 a0001c0001t0009g0123 a0001c0001t0009g0186 a0001c0001t0009g0187 a0001c0001t0009g0338 a0001c0001t0010g0014 a0001c0001t0010g0036 a0001c0001t0010g0102 a0001c0001t0010g0190 a0001c0001t0010g0333 a0001c0001t0010g0339 a0001c0001t0010g0349 a0001c0001t0010g0362 a0001c0001t0011g0024 a0001c0001t0011g0033 a0001c0001t0011g0035 a0001c0001t0011g0037 a0001c0001t0011g0038 a0001c0001t0011g0039 a0001c0001t0011g0050 a0001c0001t0011g0132 a0001c0001t0012g0097 a0001c0001t0012g0115 a0001c0001t0012g0160 a0001c0001t0012g0282 a0001c0001t0012g0343 a0001c0001t0012g0350 a0001c0001t0013g0074 a0001c0001t0013g0110 a0001c0001t0013g0142 a0001c0001t0013g0213 a0001c0001t0013g0257 a0001c0001t0013g0259 a0001c0001t0013g0290 a0001c0001t0014g0086 a0001c0001t0014g0103 a0001c0001t0014g0156 a0001c0001t0014g0233 a0001c0001t0014g0234 a0001c0001t0014g0236 a0001c0001t0015g0043 a0001c0001t0015g0118 a0001c0001t0015g0119 a0001c0001t0015g0189 a0001c0001t0016g0112 a0001c0001t0016g0341 a0001c0001t0016g0351 a0001c0001t0016g0352 a0001c0001t0017g0007 a0001c0001t0017g0383 a0001c0001t0017g0384 a0001c0001t0017g0386 a0001c0001t0018g0072 a0001c0001t0018g0084 a0001c0001t0018g0147 a0001c0001t0018g0247 a0001c0001t0019g0061 a0001c0001t0019g0221 a0001c0001t0019g0300 a0001c0001t0020g0121 a0001c0001t0020g0136 a0001c0001t0020g0345 a0001c0001t0021g0042 a0001c0001t0021g0185 a0001c0001t0021g0361 a0001c0001t0022g0077 a0001c0001t0022g0260 a0001c0001t0022g0315 a0001c0001t0023g0144 a0001c0001t0023g0193 a0001c0001t0023g0237 a0001c0001t0024g0057 a0001c0001t0024g0208 a0001c0001t0025g0227 a0001c0001t0025g0289 a0001c0001t0026g0127 a0001c0001t0026g0218 a0001c0001t0027g0337 a0001c0001t0027g0359 a0001c0001t0028g0215 a0001c0001t0028g0223 a0001c0001t0029g0158 a0001c0001t0029g0166 a0001c0001t0030g0045 a0001c0001t0031g0028 a0001c0001t0032g0032 a0001c0001t0032g0336 a0001c0001t0033g0327 a0001c0001t0033g0342 a0001c0001t0034g0031 a0001c0001t0034g0034 a0001c0001t0035g0285 a0001c0001t0035g0286 a0001c0001t0036g0381 a0001c0001t0036g0382 a0001c0001t0038g0274 a0001c0001t0039g0172 a0001c0001t0040g0335 a0001c0001t0041g0321 a0001c0001t0043g0184 a0001c0001t0044g0120 a0001c0001t0045g0295 a0001c0001t0046g0041 a0001c0001t0047g0364 a0001c0001t0048g0122 a0001c0001t0049g0062 a0001c0001t0050g0363 a0001c0001t0051g0026 a0001c0001t0052g0317 a0001c0001t0053g0075 a0001c0001t0054g0053 a0001c0001t0055g0162 a0001c0001t0056g0133 a0001c0001t0057g0200 a0001c0001t0058g0249 a0001c0001t0059g0055 a0001c0001t0060g0322 a0001c0001t0061g0134 a0001c0001t0062g0047 a0001c0001t0063g0051 a0001c0001t0064g0030 a0001c0001t0065g0385 a0001c0001t0066g0387 a0001c0003t0002g0002 a0001c0003t0002g0016 a0001c0003t0002g0017 a0001c0003t0002g0021 a0001c0006t0002g0013 a0001c0006t0024g0113 a0001c0008t0001g0011 a0003c0004t0004g0368 a0003c0004t0016g0366 a0003c0004t0037g0367 a0004c0005t0001g0010 a0004c0005t0042g0009 a0005c0012t0003g0380 a0006c0010t0012g0094 a0007c0009t0005g0358 a0008c0011t0025g0365 a0009c0007t0001g0008	381	394	0.9670	-6	c.206 others(13): Show c.206_211delGCTCCA	p.Ser others(11): Show p.Ser69_Ser70del	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/3	327/2604	206/480	69/159		chr15	TogoVar
FAM186A_chr12_50322309_50401609	50352677	GATCCCCA others(29): Show GATCCCCAGTTCCTGAGCCTGCTGAGTGGTGAGAGGC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19000.hp2 NA19084.hp1 NA19000.hp2 NA19084.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0214 a0012c0015t0001g0216 a0012c0015t0001g0214 a0012c0015t0001g0216	2	332	0.0060	-36	c.411 others(45): Show c.4119_4154delGCCTCTCACCACTCAGCAGGCTCAGGAACTGGGGAT	p.Met others(15): Show p.Met1373_Gly1384del	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/8	4279/7255	4119/7056	1373/2351		chr12	TogoVar
FAM83D_chr20_38921417_38958106	38926679	CGCG CGCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01361.hp1 HG02145.hp2 HG02559.hp1 others(6): Show HG01361.hp1 HG02145.hp2 HG02559.hp1 HG02622.hp2 HG03041.hp2 HG03130.hp2 HG03486.hp1 NA19030.hp1 NA20300.hp1	a0004 a0006 a0004 a0006	a0004c0005 a0006c0008 a0004c0005 a0006c0008	a0004c0005t0004 a0006c0008t0002 a0004c0005t0004 a0006c0008t0002	a0004c0005t0004g0021 a0004c0005t0004g0103 a0004c0005t0004g0104 others(5): Show a0004c0005t0004g0021 a0004c0005t0004g0103 a0004c0005t0004g0104 a0004c0005t0004g0129 a0004c0005t0004g0130 a0006c0008t0002g0016 a0006c0008t0002g0047 a0006c0008t0002g0048	9	342	0.0263	-3	c.255 others(10): Show c.255_257delGGC	p.Ala others(5): Show p.Ala86del	FAM83D	ENSG00000101447.15	transcript	ENST00000619850.2	protein_coding	1/4	281/2370	255/1758	85/585	INFO_REALIGN_3_PRIME	chr20	TogoVar
FAM8A1_chr6_17595302_17616715	17600553	GGCCCCGG others(11): Show GGCCCCGGGCCGGCCCACA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp1 HG03209.hp2 NA18522.hp1 HG01891.hp1 HG03209.hp2 NA18522.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0023 a0003c0003t0001g0046 a0003c0003t0001g0023 a0003c0003t0001g0046	3	374	0.0080	-18	c.155 others(25): Show c.155_172delGGCCCACAGCCCCGGGCC	p.Arg others(11): Show p.Arg52_Gly57del	FAM8A1	ENSG00000137414.7	transcript	ENST00000259963.4	protein_coding	1/5	263/4726	155/1242	52/413	INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM90A22_chr8_7566995_7580006	7572281	AGGCAAGG others(359): Show AGGCAAGGTCTGCTGTGCGGAGGCTGCCTGTCGACGCTGGGCACCTGGGC CGGTGTCCTCCTGCCCATCTGGGGCGACGTACTTGGTCCAAGTTCGGTTG CGGCTGGCGGAGGTTGGAGATTCTCCGGGGCCCCCAGCTCACCTCCCTGG ATGGCGCTTTCGGGGATCTGGAAGGGACCCAGTCTCGGTTTCTTGGGGAA GTTCAGGCAAGCCTGAATCGGAGCCTGGGCAGGTTTCTTGGCTCCTGGCC CGAAGCTGAGATTGGAGCCTAGGCCCAAGCTGTGTGTGGCGGCTGGCGGG CAGGGCTGTGGGGTCACCGCAGGACGTTTGTCTTGTGCCTGGGGTCTGGA GGCCTGGAGCAGGCCGT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01168.hp1 NA18961.hp2 NA18974.hp1 others(1): Show HG01168.hp1 NA18961.hp2 NA18974.hp1 NA19057.hp1	a0015 a0022 a0026 a0015 a0022 a0026	a0015c0015 a0022c0019 a0026c0027 a0015c0015 a0022c0019 a0026c0027	a0015c0015t0000 a0022c0019t0000 a0026c0027t0000 a0015c0015t0000 a0022c0019t0000 a0026c0027t0000	a0015c0015t0000g0006 a0022c0019t0000g0018 a0026c0027t0000g0021 a0015c0015t0000g0006 a0022c0019t0000g0018 a0026c0027t0000g0021	4	88	0.0455	-366	c.743 others(8): Show c.743_1108del	p.His others(13): Show p.His248_Cys369del	FAM90A22	ENSG00000285687.1	transcript	ENST00000648590.1	protein_coding	4/4	1108/1395	743/1395	248/464		chr8	TogoVar
FAM98B_chr15_38449127_38492710	38484532	ATTATGGT others(11): Show ATTATGGTGGAAGAGGGGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03491.hp1 HG03492.hp1 HG03834.hp2 others(1): Show HG03491.hp1 HG03492.hp1 HG03834.hp2 NA19055.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0049 a0003c0005t0001g0053 a0003c0005t0001g0234 a0003c0005t0001g0049 a0003c0005t0001g0053 a0003c0005t0001g0234	4	400	0.0100	-18	c.119 others(27): Show c.1194_1211delTTATGGTGGAAGAGGGGG	p.Tyr others(13): Show p.Tyr399_Gly404del	FAM98B	ENSG00000171262.11	transcript	ENST00000397609.6	protein_coding	8/8	1229/4388	1194/1302	398/433	INFO_REALIGN_3_PRIME	chr15	TogoVar
FAM98B_chr15_38449127_38492710	38484551	TTATGGTG others(11): Show TTATGGTGGAAGAGGGGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02293.hp1 HG02293.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0003 a0008c0011t0003	a0008c0011t0003g0178 a0008c0011t0003g0178	1	400	0.0025	-18	c.120 others(27): Show c.1209_1226delGGGCTATGGTGGAAGAGG	p.Gly others(13): Show p.Gly404_Gly409del	FAM98B	ENSG00000171262.11	transcript	ENST00000397609.6	protein_coding	8/8	1244/4388	1209/1302	403/433	INFO_REALIGN_3_PRIME	chr15	TogoVar
FAM98B_chr15_38449127_38492710	38484605	AGGTGGTG others(2): Show AGGTGGTGGT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00642.hp1 HG00738.hp2 HG01169.hp1 others(28): Show HG00642.hp1 HG00738.hp2 HG01169.hp1 HG01243.hp1 HG01257.hp1 HG01433.hp1 HG01952.hp1 HG01981.hp1 HG02015.hp1 HG02155.hp1 HG02273.hp1 HG02293.hp1 HG02523.hp1 HG02818.hp2 HG02922.hp1 HG03669.hp1 HG03927.hp1 HG03942.hp2 NA18942.hp2 NA18945.hp1 NA18956.hp2 NA18965.hp1 NA18972.hp1 NA18977.hp1 NA18979.hp1 NA18986.hp2 NA18999.hp1 NA19000.hp1 NA19079.hp1 NA19090.hp1 NA20300.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0002c0007 a0008c0011 a0002c0002 a0002c0007 a0008c0011	a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 others(3): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0025 a0002c0007t0003 a0008c0011t0003	a0002c0002t0002g0006 a0002c0002t0002g0115 a0002c0002t0002g0129 others(18): Show a0002c0002t0002g0006 a0002c0002t0002g0115 a0002c0002t0002g0129 a0002c0002t0002g0132 a0002c0002t0002g0140 a0002c0002t0002g0147 a0002c0002t0003g0002 a0002c0002t0003g0070 a0002c0002t0003g0071 a0002c0002t0003g0074 a0002c0002t0003g0075 a0002c0002t0003g0151 a0002c0002t0003g0177 a0002c0002t0003g0182 a0002c0002t0003g0183 a0002c0002t0003g0184 a0002c0002t0003g0185 a0002c0002t0004g0096 a0002c0002t0025g0181 a0002c0007t0003g0254 a0008c0011t0003g0178	31	400	0.0775	-9	c.126 others(18): Show c.1269_1277delTGGTGGTGG	p.Gly others(13): Show p.Gly424_Gly426del	FAM98B	ENSG00000171262.11	transcript	ENST00000397609.6	protein_coding	8/8	1304/4388	1269/1302	423/433	INFO_REALIGN_3_PRIME	chr15	TogoVar
FAM9A_chrX_8785795_8806383	8795114	TTCC TTCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0019 a0008c0007t0001g0019	2	303	0.0066	-3	c.792 others(10): Show c.792_794delGGA	p.Glu others(6): Show p.Glu265del	FAM9A	ENSG00000183304.10	transcript	ENST00000381003.7	protein_coding	7/10	905/1519	792/999	264/332		chrX	TogoVar
FAM9A_chrX_8785795_8806383	8795139	TCTC TCTC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG04228.hp1 NA18998.hp1 NA19068.hp1 HG04228.hp1 NA18998.hp1 NA19068.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0007 a0003c0004t0001 a0003c0004t0007	a0003c0004t0001g0031 a0003c0004t0001g0066 a0003c0004t0007g0032 a0003c0004t0001g0031 a0003c0004t0001g0066 a0003c0004t0007g0032	3	303	0.0099	-3	c.767 others(10): Show c.767_769delGAG	p.Gly others(6): Show p.Gly256del	FAM9A	ENSG00000183304.10	transcript	ENST00000381003.7	protein_coding	7/10	880/1519	767/999	256/332		chrX	TogoVar
FAM9A_chrX_8785795_8806383	8795154	CCTT CCTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00741.hp2 HG01256.hp1 HG01361.hp2 HG00741.hp2 HG01256.hp1 HG01361.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0012 a0004c0005t0001g0012	3	303	0.0099	-3	c.752 others(10): Show c.752_754delAAG	p.Glu others(6): Show p.Glu251del	FAM9A	ENSG00000183304.10	transcript	ENST00000381003.7	protein_coding	7/10	865/1519	752/999	251/332		chrX	TogoVar
FAM9A_chrX_8785795_8806383	8795268	GCTGCTGC others(11): Show GCTGCTGCTGCTGCGGCTT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02074.hp1 HG02165.hp2 HG02074.hp1 HG02165.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0016 a0006c0009t0001g0016	2	303	0.0066	-18	c.623 others(25): Show c.623_640delAAGCCGCAGCAGCAGCAG	p.Glu others(13): Show p.Glu208_Ala213del	FAM9A	ENSG00000183304.10	transcript	ENST00000381003.7	protein_coding	7/10	751/1519	623/999	208/332		chrX	TogoVar

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