Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EAF2_chr3_121830209_121891526	121841504	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	2	318	0.0063	-20	c.107 others(37): Show c.107-2929_107-2910delAAAAAAAAAAAAAAAAAAAA	EAF2	ENSG00000145088.9	transcript	ENST00000273668.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
EAF2_chr3_121830209_121891526	121841524	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	318	0.0031	-20	c.107 others(37): Show c.107-2925_107-2906delAAAAAAAAAAAAAAAAGAAA	EAF2	ENSG00000145088.9	transcript	ENST00000273668.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
EAPP_chr14_34510938_34544701	34544073	ATATGTGT others(13): Show ATATGTGTGTGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02895.hp1 HG02897.hp1 others(6): Show HG02257.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03098.hp1 HG03225.hp2 HG03579.hp1 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0078 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0091	9	360	0.0250	-20	c.-44 others(31): Show c.-4465_-4446delCACACACACACACACACATA	EAPP	ENSG00000129518.10	transcript	ENST00000250454.8	protein_coding		4373		chr14	TogoVar
EBF1_chr5_158690920_159104916	158822259	CGGATGGA others(13): Show CGGATGGACGGATGGATGGAT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp1 HG00735.hp2 others(39): Show HG00544.hp2 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp2 HG01109.hp1 HG01257.hp2 HG01433.hp2 HG01928.hp2 HG01934.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02074.hp1 HG02129.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02622.hp2 HG02630.hp2 HG02922.hp2 HG02965.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp1 HG04184.hp1 NA18942.hp1 NA18944.hp2 NA18949.hp1 NA18963.hp1 NA18966.hp2 NA18969.hp2 NA19009.hp2 NA19068.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0022 a0001c0001t0069 a0001c0001t0070 a0001c0001t0086 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0017 a0001c0002t0034 a0001c0002t0035 a0001c0002t0038 a0001c0002t0041 a0001c0002t0060 a0001c0002t0084 a0001c0004t0004	a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0002g0100 others(39): Show a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0002g0100 a0001c0001t0007g0066 a0001c0001t0011g0096 a0001c0001t0022g0099 a0001c0001t0022g0124 a0001c0001t0069g0071 a0001c0001t0070g0075 a0001c0001t0086g0154 a0001c0002t0001g0109 a0001c0002t0001g0131 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0158 a0001c0002t0001g0161 a0001c0002t0001g0170 a0001c0002t0003g0090 a0001c0002t0004g0162 a0001c0002t0005g0115 a0001c0002t0005g0128 a0001c0002t0005g0143 a0001c0002t0005g0165 a0001c0002t0006g0015 a0001c0002t0006g0017 a0001c0002t0006g0020 a0001c0002t0006g0025 a0001c0002t0007g0059 a0001c0002t0007g0076 a0001c0002t0009g0079 a0001c0002t0012g0023 a0001c0002t0013g0001 a0001c0002t0013g0002 a0001c0002t0017g0037 a0001c0002t0017g0041 a0001c0002t0034g0008 a0001c0002t0035g0016 a0001c0002t0038g0014 a0001c0002t0041g0028 a0001c0002t0060g0053 a0001c0002t0084g0111 a0001c0004t0004g0171	42	196	0.2143	-20	c.778 others(35): Show c.778+897_778+916delATCCATCCATCCGTCCATCC	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	8/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158840653	TTTTTTTT others(13): Show TTTTTTTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0074 a0001c0001t0067g0074	1	196	0.0051	-20	c.555 others(35): Show c.555-563_555-544delCAAAAAAAAAAAAAAAAAAA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158866827	GTATATGT others(13): Show GTATATGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0031 a0001c0001t0045g0031	1	196	0.0051	-20	c.555 others(39): Show c.555-26737_555-26718delTATATATATATATACATATA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158866833	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02293.hp2 HG02572.hp2 others(9): Show HG02257.hp2 HG02293.hp2 HG02572.hp2 HG02818.hp1 HG02970.hp1 HG03041.hp2 HG03225.hp2 HG03540.hp1 NA18522.hp2 NA19084.hp2 NA19085.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0031 a0001c0001t0033 a0001c0001t0042 a0001c0001t0082 a0001c0001t0095	a0001c0001t0001g0172 a0001c0001t0002g0101 a0001c0001t0002g0112 others(9): Show a0001c0001t0001g0172 a0001c0001t0002g0101 a0001c0001t0002g0112 a0001c0001t0002g0119 a0001c0001t0002g0167 a0001c0001t0005g0132 a0001c0001t0009g0073 a0001c0001t0031g0007 a0001c0001t0033g0003 a0001c0001t0042g0027 a0001c0001t0082g0139 a0001c0001t0095g0196	12	196	0.0612	-20	c.555 others(39): Show c.555-26743_555-26724delTATATATATATATATATATA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158956028	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0184 a0001c0001t0008g0184	1	196	0.0051	-20	c.555 others(41): Show c.555-115938_555-115919delCACACACACACACACACACA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158969842	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0064 a0001c0002t0064	a0001c0002t0064g0056 a0001c0002t0064g0056	1	196	0.0051	-20	c.554 others(41): Show c.554+103534_554+103553delTTCTTTCTTTCTTTCTTTCT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF2_chr8_25836725_26050413	25934224	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01261.hp2 HG02129.hp2 others(2): Show HG00544.hp1 HG01261.hp2 HG02129.hp2 HG02572.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0036 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0036 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0148 a0001c0001t0036g0159 a0001c0002t0001g0053 others(2): Show a0001c0001t0001g0148 a0001c0001t0036g0159 a0001c0002t0001g0053 a0001c0002t0003g0166 a0001c0002t0003g0176	5	220	0.0227	-20	c.552 others(39): Show c.552-25689_552-25670delGTGTGTGTGTGTGTGTGTGT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF3_chr10_129830233_129969274	129839011	ACTTCGGG others(13): Show ACTTCGGGGGCCTGGGCGTCC	A A	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0184 a0001c0001t0004g0184	1	338	0.0030	-20	c.187 others(35): Show c.1872+52_1872+71delGGACGCCCAGGCCCCCGAAG	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	16/16			chr10	TogoVar
EBF4_chr20_2687780_2765108	2705785	CCACACAC others(13): Show CCACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	388	0.0026	-20	c.294 others(34): Show c.294+86_294+105delACACACACACACACACACAC	EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
EBI3_chr19_4224523_4242528	4232771	TGAATTAA others(13): Show TGAATTAATGAATGAATGAAG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02486.hp1 others(12): Show HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02723.hp2 HG02886.hp2 HG02922.hp2 HG03130.hp2 HG03209.hp1 HG03486.hp2 HG06807.hp1 NA18906.hp2 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0036 others(5): Show a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0036 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0002g0165	15	438	0.0343	-20	c.201 others(35): Show c.201-353_201-334delTAATGAATGAATGAAGGAAT	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
EBLN1_chr10_22203475_22223015	22222942	GCACAAAG others(13): Show GCACAAAGGTTCCAATTTCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03942.hp2 HG03710.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	432	0.0046	-20	c.-52 others(31): Show c.-5215_-5196delGGGAAATTGGAACCTTTGTG	EBLN1	ENSG00000223601.3	transcript	ENST00000422359.3	protein_coding		4928		chr10	TogoVar
ECE1_chr1_21212250_21295463	21273338	CGTGTGTG others(13): Show CGTGTGTGCGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03540.hp1 NA19030.hp2 HG03516.hp1 HG03540.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0035 a0001c0002t0004 a0001c0001t0001 a0001c0001t0035 a0001c0002t0004	a0001c0001t0001g0090 a0001c0001t0035g0097 a0001c0002t0004g0098 a0001c0001t0001g0090 a0001c0001t0035g0097 a0001c0002t0004g0098	3	304	0.0099	-20	c.281 others(35): Show c.281-447_281-428delACACACACACACGCACACAC	ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding	3/18			chr1	TogoVar
ECE2_chr3_184271022_184298031	184274718	TGAAAGAA others(13): Show TGAAAGAAAGAAAGAAAGAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01516.hp2 HG02723.hp2 others(1): Show HG00735.hp2 HG01516.hp2 HG02723.hp2 NA19065.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0015 a0001c0001 a0008c0015	a0001c0001t0001 a0001c0001t0002 a0008c0015t0003 a0001c0001t0001 a0001c0001t0002 a0008c0015t0003	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0002g0002 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0002g0002 a0008c0015t0003g0035	4	398	0.0101	-20	c.-14 others(31): Show c.-1435_-1416delGAAAGAAAGAAAGAAAGAAA	ECE2	ENSG00000145194.19	transcript	ENST00000404464.8	protein_coding		1303		chr3	TogoVar
ECHDC1_chr6_127283712_127348609	127333666	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02922.hp1 HG02258.hp2 HG02280.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	3	358	0.0084	-20	c.-2- others(35): Show c.-2-2656_-2-2637delGTGTGTGTGTGTGTGTGTGT	ECHDC1	ENSG00000093144.19	transcript	ENST00000454859.8	protein_coding	1/5			chr6	TogoVar
ECHDC3_chr10_11737382_11769070	11742321	CGGGGCGT others(13): Show CGGGGCGTGCCGGGGCGGGGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(102): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01975.hp1 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02132.hp2 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG03927.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19001.hp1 NA19004.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19054.hp1 NA19055.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp2 NA19072.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19089.hp2 NA19091.hp1 NA20805.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0011	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0020 a0004c0007 a0005c0009 a0011c0021	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0003t0001 a0001c0003t0005 a0001c0005t0001 a0001c0020t0001 a0004c0007t0001 a0005c0009t0001 a0011c0021t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(51): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0049 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0214 a0001c0001t0007g0004 a0001c0001t0008g0169 a0001c0003t0001g0210 a0001c0003t0001g0213 a0001c0003t0005g0092 a0001c0005t0001g0022 a0001c0005t0001g0104 a0001c0005t0001g0110 a0001c0020t0001g0099 a0004c0007t0001g0007 a0004c0007t0001g0216 a0005c0009t0001g0001 a0005c0009t0001g0017 a0005c0009t0001g0063 a0011c0021t0001g0163	105	420	0.2500	-20	c.-25 others(29): Show c.-255_-236delGGGGCGTGCCGGGGCGGGGA	ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding		60		chr10	TogoVar
ECSCR_chr5_139443560_139467743	139446461	TTCCTTTT others(13): Show TTCCTTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG03239.hp1 HG03491.hp2 others(1): Show HG01346.hp1 HG03239.hp1 HG03491.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	4	369	0.0108	-20	c.24 others(31): Show c.2419_*2438delGAAAGAAAGAAAGAAAAGGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2098		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446465	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01517.hp2 HG01934.hp2 others(16): Show HG00673.hp1 HG01517.hp2 HG01934.hp2 HG02015.hp1 HG02083.hp2 HG02129.hp2 HG02145.hp2 HG02300.hp1 HG02523.hp2 HG02886.hp1 HG02965.hp1 HG03225.hp2 HG03486.hp2 HG03654.hp1 HG06807.hp1 HG06807.hp2 NA18959.hp2 NA19057.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0001g0136	19	369	0.0515	-20	c.24 others(31): Show c.2415_*2434delGAAAGAAAGAAAGAAAGAAA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2094		chr5	TogoVar
EDARADD_chr1_236389286_236489930	236405874	CTTCTTTC others(13): Show CTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0290 a0001c0001t0005g0290	1	294	0.0034	-20	c.62- others(35): Show c.62-3309_62-3290delTTCTTTCTTTCTTTCTTTCT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236447166	CTCCCTCT others(13): Show CTCCCTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01168.hp1 HG01175.hp1 others(20): Show HG00741.hp2 HG01168.hp1 HG01175.hp1 HG01258.hp1 HG01361.hp1 HG01516.hp2 HG01934.hp1 HG02027.hp2 HG02040.hp1 HG02155.hp2 HG02717.hp2 HG03017.hp1 HG03017.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG04199.hp1 NA18953.hp2 NA18987.hp2 NA19062.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0003t0002 a0001c0004t0005 a0001c0004t0015 a0002c0002t0003 a0003c0006t0001	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0131 others(19): Show a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0131 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0003g0102 a0001c0001t0003g0205 a0001c0001t0003g0219 a0001c0001t0004g0211 a0001c0001t0005g0176 a0001c0001t0013g0204 a0001c0003t0002g0004 a0001c0004t0005g0054 a0001c0004t0005g0100 a0001c0004t0005g0175 a0001c0004t0005g0196 a0001c0004t0015g0001 a0002c0002t0003g0267 a0003c0006t0001g0190 a0003c0006t0001g0203	23	294	0.0782	-20	c.219 others(39): Show c.219+19719_219+19738delCCTCTTTCTTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236447170	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01943.hp2 HG02273.hp1 HG01258.hp2 HG01943.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0174 a0001c0001t0003g0052 a0001c0001t0004g0111 a0001c0001t0002g0174 a0001c0001t0003g0052 a0001c0001t0004g0111	3	294	0.0102	-20	c.219 others(39): Show c.219+19755_219+19774delTTTCTTTCTTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDA_chrX_69611113_70044472	69612261	GTTTTATT others(13): Show GTTTTATTTTATTTTATTTTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG01109.hp1 others(29): Show HG00280.hp1 HG00639.hp2 HG01109.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG02083.hp1 HG02109.hp1 HG02148.hp2 HG02258.hp1 HG02559.hp2 HG02717.hp1 HG02886.hp1 HG02922.hp2 HG03130.hp1 HG03471.hp1 HG03831.hp1 HG04184.hp1 HG04228.hp1 NA18747.hp1 NA18951.hp1 NA18953.hp1 NA18955.hp1 NA18984.hp1 NA19043.hp1 NA19091.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015	a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0034 others(29): Show a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0129 a0001c0001t0001g0143 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0002g0008 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0067 a0001c0001t0002g0075 a0001c0001t0002g0082 a0001c0001t0002g0125 a0001c0001t0003g0023 a0001c0001t0004g0123 a0001c0001t0004g0128 a0001c0001t0007g0035 a0001c0001t0012g0108 a0001c0001t0015g0119	32	226	0.1416	-20	c.-40 others(31): Show c.-4047_-4028delTTTTATTTTATTTTATTTTA	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding		3851		chrX	TogoVar
EDA_chrX_69611113_70044472	69810257	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02258.hp1 HG02486.hp1 others(9): Show HG00735.hp2 HG02258.hp1 HG02486.hp1 HG02615.hp1 HG02896.hp1 HG02897.hp2 HG03041.hp1 HG03225.hp1 HG03486.hp2 HG03540.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0020	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(9): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0166 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0196 a0001c0001t0002g0181 a0001c0001t0004g0135 a0001c0001t0004g0142 a0001c0001t0004g0182 a0001c0001t0020g0163	12	226	0.0531	-20	c.397 others(41): Show c.397-146743_397-146724delAAAAAAAAAAAAAAAAAAAA	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69849080	TATACACA others(13): Show TATACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00639.hp1 others(24): Show HG00099.hp2 HG00280.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01346.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG02080.hp2 HG02572.hp1 HG02698.hp1 HG02735.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG04115.hp1 HG04204.hp1 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0001 a0001c0001t0001g0201 a0001c0001t0001g0203 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0002g0202 a0001c0001t0002g0217 a0001c0001t0002g0224 a0001c0001t0003g0205 a0001c0001t0003g0210 a0001c0001t0003g0214 a0001c0001t0003g0218 a0001c0001t0003g0221 a0001c0001t0005g0206 a0001c0001t0009g0216	27	226	0.1195	-20	c.397 others(41): Show c.397-107945_397-107926delTACACACACACACACACACA	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69889610	CTTTAGCC others(13): Show CTTTAGCCAATTTTTAATTGT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	226	0.0044	-20	c.397 others(39): Show c.397-67413_397-67394delAGCCAATTTTTAATTGTTTT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69972991	ACTAAGCT others(13): Show ACTAAGCTAATCTAAGCTAAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp1 HG02109.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0129 a0001c0001t0020g0163 a0001c0001t0001g0129 a0001c0001t0020g0163	2	226	0.0089	-20	c.502 others(39): Show c.502+15876_502+15895delTAATCTAAGCTAATCTAAGC	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDIL3_chr5_83935554_84389880	84151248	TACACACA others(13): Show TACACACACACGCACATACAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	158	0.0063	-20	c.356 others(39): Show c.356-13914_356-13895delGTGTATGTGCGTGTGTGTGT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84160744	TCTTTCCT others(13): Show TCTTTCCTTTCCTTTCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02895.hp2 HG02897.hp2 others(2): Show HG02451.hp2 HG02895.hp2 HG02897.hp2 HG03130.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0002t0005	a0001c0001t0003g0103 a0001c0001t0004g0055 a0001c0001t0017g0015 others(2): Show a0001c0001t0003g0103 a0001c0001t0004g0055 a0001c0001t0017g0015 a0001c0002t0005g0032 a0001c0002t0005g0033	5	158	0.0317	-20	c.355 others(39): Show c.355+19629_355+19648delGAAAGGAAAGGAAAGGAAAG	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84249377	TTCTATCT others(13): Show TTCTATCTATCTATCTATCTA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	158	0.0063	-20	c.196 others(37): Show c.196+4687_196+4706delTAGATAGATAGATAGATAGA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EEA1_chr12_92765637_92934295	92895133	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(138): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02015.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18964.hp2 NA18967.hp2 NA18977.hp2 NA19004.hp1 NA19004.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19062.hp1 NA19068.hp1 NA19080.hp1 NA19084.hp1 NA19084.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0007 a0009	a0001c0001 a0001c0002 a0001c0010 others(7): Show a0001c0001 a0001c0002 a0001c0010 a0001c0011 a0001c0018 a0002c0015 a0003c0005 a0006c0009 a0007c0016 a0009c0013	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(34): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0023 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0017 a0001c0002t0019 a0001c0002t0020 a0001c0002t0026 a0001c0002t0027 a0001c0002t0028 a0001c0002t0032 a0001c0002t0037 a0001c0002t0038 a0001c0002t0039 a0001c0002t0044 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047 a0001c0010t0006 a0001c0011t0006 a0001c0018t0017 a0002c0015t0001 a0003c0005t0003 a0003c0005t0042 a0006c0009t0001 a0007c0016t0025 a0009c0013t0005	a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0054 others(138): Show a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0214 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0061 a0001c0001t0005g0077 a0001c0001t0005g0085 a0001c0001t0005g0093 a0001c0001t0005g0181 a0001c0001t0005g0182 a0001c0001t0005g0183 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0186 a0001c0001t0005g0225 a0001c0001t0013g0050 a0001c0001t0013g0075 a0001c0001t0013g0092 a0001c0001t0013g0138 a0001c0001t0023g0051 a0001c0001t0049g0018 a0001c0001t0050g0062 a0001c0001t0051g0107 a0001c0001t0052g0080 a0001c0001t0053g0083 a0001c0001t0054g0071 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0037 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0006g0042 a0001c0002t0006g0044 a0001c0002t0006g0191 a0001c0002t0006g0192 a0001c0002t0006g0195 a0001c0002t0007g0048 a0001c0002t0007g0116 a0001c0002t0007g0117 a0001c0002t0007g0118 a0001c0002t0007g0119 a0001c0002t0007g0125 a0001c0002t0007g0126 a0001c0002t0007g0130 a0001c0002t0007g0131 a0001c0002t0007g0137 a0001c0002t0007g0193 a0001c0002t0007g0196 a0001c0002t0009g0113 a0001c0002t0009g0120 a0001c0002t0009g0121 a0001c0002t0009g0124 a0001c0002t0009g0129 a0001c0002t0009g0133 a0001c0002t0017g0114 a0001c0002t0017g0115 a0001c0002t0019g0127 a0001c0002t0019g0128 a0001c0002t0020g0122 a0001c0002t0026g0212 a0001c0002t0027g0189 a0001c0002t0028g0190 a0001c0002t0032g0045 a0001c0002t0037g0194 a0001c0002t0038g0043 a0001c0002t0039g0215 a0001c0002t0044g0139 a0001c0002t0045g0036 a0001c0002t0046g0217 a0001c0002t0047g0187 a0001c0010t0006g0218 a0001c0010t0006g0219 a0001c0010t0006g0220 a0001c0010t0006g0221 a0001c0011t0006g0216 a0001c0011t0006g0222 a0001c0018t0017g0197 a0002c0015t0001g0073 a0003c0005t0003g0020 a0003c0005t0003g0021 a0003c0005t0003g0022 a0003c0005t0003g0031 a0003c0005t0003g0032 a0003c0005t0003g0033 a0003c0005t0003g0034 a0003c0005t0003g0035 a0003c0005t0003g0239 a0003c0005t0042g0038 a0006c0009t0001g0086 a0006c0009t0001g0096 a0006c0009t0001g0097 a0006c0009t0001g0098 a0007c0016t0025g0019 a0009c0013t0005g0064	141	244	0.5779	-20	c.25- others(35): Show c.25-3432_25-3413delAAAAAAAAAAAAAAAAAAAA	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	1/28			chr12	TogoVar
EEF1AKMT1_chr13_20723731_20778961	20764880	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	348	0.0029	-20	c.-19 others(37): Show c.-19-7283_-19-7264delGTGTGTGTGTGTGTGTGTGT	EEF1AKMT1	ENSG00000150456.11	transcript	ENST00000382758.6	protein_coding	1/4			chr13	TogoVar
EEF1AKMT4_chr3_184244672_184263759	184263633	AAGAAAGA others(13): Show AAGAAAGAGAGAGAGAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0075 a0006c0009t0001g0075	1	378	0.0027	-20	c.50 others(31): Show c.5059_*5078delAGAAAGAGAGAGAGAGAGAG	EEF1AKMT4	ENSG00000284753.2	transcript	ENST00000324557.9	protein_coding		4875		chr3	TogoVar
EEF1AKMT4_chr3_184244672_184263759	184263637	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01433.hp1 HG02055.hp1 others(7): Show HG01261.hp1 HG01433.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02622.hp1 HG02630.hp2 HG02896.hp1 HG02976.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0005 a0001c0008 a0002c0005	a0001c0008t0001 a0002c0005t0001 a0001c0008t0001 a0002c0005t0001	a0001c0008t0001g0095 a0002c0005t0001g0007 a0002c0005t0001g0097 others(1): Show a0001c0008t0001g0095 a0002c0005t0001g0007 a0002c0005t0001g0097 a0002c0005t0001g0098	10	378	0.0265	-20	c.50 others(31): Show c.5063_*5082delAGAGAGAGAGAGAGAGAGAG	EEF1AKMT4	ENSG00000284753.2	transcript	ENST00000324557.9	protein_coding		4879		chr3	TogoVar
EEF2KMT_chr16_5079284_5102795	5101354	GAATTGAA others(13): Show GAATTGAAGGTTAAGTAAAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0007 a0002c0007t0007	a0002c0007t0007g0005 a0002c0007t0007g0005	1	442	0.0023	-20	c.-36 others(31): Show c.-3635_-3616delACTTTACTTAACCTTCAATT	EEF2KMT	ENSG00000118894.15	transcript	ENST00000427587.9	protein_coding		3560		chr16	TogoVar
EEFSEC_chr3_128148481_128413646	128151180	CATTCTAT others(13): Show CATTCTATATATACTCTATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	272	0.0037	-20	c.-23 others(31): Show c.-2327_-2308delATTCTATATATACTCTATAT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		2300		chr3	TogoVar
EEIG1_chr9_127935582_127985989	127965106	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0048 a0001c0001t0017g0048	1	342	0.0029	-20	c.147 others(39): Show c.147-11201_147-11182delTTTTTTTTTTTTTTTTTTTT	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding	1/10			chr9	TogoVar
EEPD1_chr7_36148254_36306538	36150956	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG02145.hp1 HG02717.hp1 HG00741.hp1 HG02145.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0054 a0001c0012t0001 a0001c0001t0001 a0001c0001t0054 a0001c0012t0001	a0001c0001t0001g0184 a0001c0001t0054g0193 a0001c0012t0001g0321 a0001c0001t0001g0184 a0001c0001t0054g0193 a0001c0012t0001g0321	3	346	0.0087	-20	c.-29 others(31): Show c.-2910_-2891delGTGTGTGTGTGTGTGTGTGG	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding		2297		chr7	TogoVar
EEPD1_chr7_36148254_36306538	36158323	GGCGCACT others(13): Show GGCGCACTTGCTAAATTGTGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG00609.hp2 others(89): Show HG00099.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01168.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01433.hp2 HG01496.hp1 HG02071.hp2 HG02080.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18612.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA18980.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA19005.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19067.hp1 NA19074.hp1 NA19079.hp2 NA19085.hp2 NA19090.hp1 NA19091.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(4): Show a0001c0001 a0001c0004 a0001c0006 a0001c0012 a0002c0003 a0002c0005 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0001t0035 a0001c0001t0039 a0001c0001t0045 a0001c0001t0046 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0063 a0001c0001t0064 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0004t0006 a0001c0004t0011 a0001c0004t0058 a0001c0006t0002 a0001c0012t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0037 a0002c0003t0038 a0002c0005t0006 a0002c0005t0016 a0002c0009t0006	a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 others(89): Show a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0310 a0001c0001t0002g0012 a0001c0001t0002g0254 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0270 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0283 a0001c0001t0002g0302 a0001c0001t0002g0309 a0001c0001t0003g0280 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0299 a0001c0001t0003g0319 a0001c0001t0004g0297 a0001c0001t0005g0343 a0001c0001t0009g0303 a0001c0001t0009g0313 a0001c0001t0009g0315 a0001c0001t0009g0316 a0001c0001t0009g0320 a0001c0001t0009g0328 a0001c0001t0009g0331 a0001c0001t0010g0285 a0001c0001t0010g0287 a0001c0001t0014g0307 a0001c0001t0014g0308 a0001c0001t0018g0339 a0001c0001t0018g0344 a0001c0001t0018g0345 a0001c0001t0018g0346 a0001c0001t0019g0004 a0001c0001t0019g0005 a0001c0001t0024g0255 a0001c0001t0024g0326 a0001c0001t0035g0327 a0001c0001t0039g0002 a0001c0001t0045g0003 a0001c0001t0046g0006 a0001c0001t0051g0260 a0001c0001t0052g0261 a0001c0001t0053g0282 a0001c0001t0063g0253 a0001c0001t0064g0273 a0001c0001t0066g0311 a0001c0001t0067g0306 a0001c0001t0068g0305 a0001c0001t0069g0312 a0001c0004t0006g0013 a0001c0004t0006g0258 a0001c0004t0006g0317 a0001c0004t0011g0340 a0001c0004t0011g0341 a0001c0004t0011g0342 a0001c0004t0058g0314 a0001c0006t0002g0332 a0001c0012t0001g0321 a0002c0003t0001g0251 a0002c0003t0001g0252 a0002c0003t0003g0318 a0002c0003t0037g0304 a0002c0003t0038g0001 a0002c0005t0006g0277 a0002c0005t0016g0286 a0002c0009t0006g0288	92	346	0.2659	-20	c.878 others(37): Show c.878+3124_878+3143delGCACTTGCTAAATTGTGAGC	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36271798	CCTATTCT others(13): Show CCTATTCTATTCTATTCTATT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG02027.hp1 others(8): Show HG01168.hp2 HG01169.hp2 HG02027.hp1 HG02129.hp1 HG02257.hp1 HG02647.hp2 HG02818.hp1 HG02922.hp2 HG02976.hp1 HG03139.hp1 NA18999.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0011 others(1): Show a0001c0001 a0002c0003 a0002c0011 a0002c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0023 a0001c0001t0024 a0002c0003t0002 a0002c0011t0011 a0002c0013t0032	a0001c0001t0002g0127 a0001c0001t0003g0337 a0001c0001t0004g0191 others(8): Show a0001c0001t0002g0127 a0001c0001t0003g0337 a0001c0001t0004g0191 a0001c0001t0009g0213 a0001c0001t0010g0207 a0001c0001t0023g0072 a0001c0001t0023g0073 a0001c0001t0024g0326 a0002c0003t0002g0335 a0002c0011t0011g0061 a0002c0013t0032g0066	11	346	0.0318	-20	c.931 others(37): Show c.931-9251_931-9232delCTATTCTATTCTATTCTATT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36271864	CTATTCTA others(13): Show CTATTCTATTCTATTCTATTG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01358.hp1 HG02145.hp2 others(15): Show HG01255.hp1 HG01358.hp1 HG02145.hp2 HG02165.hp2 HG02615.hp2 HG02683.hp2 HG03490.hp2 HG03492.hp1 HG03710.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp2 NA18978.hp2 NA18979.hp2 NA19006.hp2 NA19082.hp1 NA19240.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0002 a0001c0001 a0001c0004 a0003c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0031 a0001c0001t0046 a0001c0001t0050 a0001c0004t0006 a0001c0004t0011 a0001c0004t0012 a0003c0002t0007	a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0159 others(15): Show a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0159 a0001c0001t0003g0136 a0001c0001t0004g0231 a0001c0001t0007g0053 a0001c0001t0008g0126 a0001c0001t0010g0287 a0001c0001t0013g0235 a0001c0001t0031g0325 a0001c0001t0046g0006 a0001c0001t0050g0224 a0001c0004t0006g0013 a0001c0004t0011g0019 a0001c0004t0012g0324 a0003c0002t0007g0042 a0003c0002t0007g0043 a0003c0002t0007g0055	18	346	0.0520	-20	c.931 others(37): Show c.931-9235_931-9216delTATTGTATTCTATTCTATTC	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB13_chr17_47318955_47446312	47325923	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18906.hp1 HG03486.hp1 NA18906.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0054 a0008c0011t0001g0273 a0008c0011t0001g0054 a0008c0011t0001g0273	2	356	0.0056	-20	c.-24 others(37): Show c.-247-283_-247-264delTATATATATATATATATATA	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB14_chr1_46670159_46724114	46720489	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01243.hp2 HG01884.hp1 others(26): Show HG01167.hp2 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG03130.hp1 HG03209.hp2 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 NA18957.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0025 a0001c0001t0026 a0001c0005t0002	a0001c0001t0001g0001 a0001c0001t0002g0045 a0001c0001t0005g0013 others(19): Show a0001c0001t0001g0001 a0001c0001t0002g0045 a0001c0001t0005g0013 a0001c0001t0005g0124 a0001c0001t0006g0012 a0001c0001t0006g0111 a0001c0001t0006g0112 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0007g0014 a0001c0001t0007g0125 a0001c0001t0007g0126 a0001c0001t0007g0127 a0001c0001t0007g0128 a0001c0001t0010g0027 a0001c0001t0010g0096 a0001c0001t0015g0118 a0001c0001t0015g0119 a0001c0001t0025g0114 a0001c0001t0026g0113 a0001c0005t0002g0038	29	374	0.0775	-20	c.-24 others(31): Show c.-2422_-2403delATTTATTTATTTATTTATTT	EFCAB14	ENSG00000159658.15	transcript	ENST00000371933.8	protein_coding		1376		chr1	TogoVar
EFCAB3_chr17_62375553_62421480	62411886	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01981.hp1 HG02109.hp1 others(10): Show HG00609.hp1 HG01981.hp1 HG02109.hp1 NA18612.hp2 NA18953.hp1 NA18979.hp1 NA18979.hp2 NA18986.hp1 NA18994.hp2 NA19007.hp1 NA19078.hp2 NA19080.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0082 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0082 a0001c0001t0001g0120 a0001c0001t0001g0145 a0001c0001t0001g0246 a0001c0003t0001g0201	13	368	0.0353	-20	c.868 others(37): Show c.868-1842_868-1823delAAGGAAGGAAGGAAGGGAGG	EFCAB3	ENSG00000172421.10	transcript	ENST00000305286.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	29970649	CACACACA others(13): Show CACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03516.hp1 HG02451.hp1 HG03516.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0129 a0005c0007t0002g0130 a0005c0007t0002g0129 a0005c0007t0002g0130	2	248	0.0081	-20	c.767 others(37): Show c.767+1302_767+1321delTACACACACACACACACACA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	29994133	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03130.hp2 HG03225.hp1 HG02723.hp2 HG03130.hp2 HG03225.hp1	a0006 a0014 a0006 a0014	a0006c0008 a0014c0021 a0006c0008 a0014c0021	a0006c0008t0002 a0014c0021t0002 a0006c0008t0002 a0014c0021t0002	a0006c0008t0002g0016 a0006c0008t0002g0017 a0014c0021t0002g0012 a0006c0008t0002g0016 a0006c0008t0002g0017 a0014c0021t0002g0012	3	248	0.0121	-20	c.924 others(35): Show c.924+837_924+856delATATATATATATATATATAT	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43524509	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01070.hp1 HG01071.hp1 others(23): Show HG00323.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01175.hp1 HG01261.hp2 HG01433.hp2 HG01884.hp2 HG01943.hp1 HG02040.hp2 HG02135.hp2 HG02257.hp1 HG02280.hp1 HG02630.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp2 HG04115.hp2 HG04199.hp2 NA18522.hp2 NA18957.hp2 NA18961.hp2 NA18965.hp2 NA19030.hp1 NA20805.hp1	a0005 a0009 a0011 others(3): Show a0005 a0009 a0011 a0014 a0015 a0028	a0005c0004 a0005c0020 a0005c0045 others(5): Show a0005c0004 a0005c0020 a0005c0045 a0009c0010 a0011c0015 a0014c0017 a0015c0024 a0028c0041	a0005c0004t0001 a0005c0020t0001 a0005c0045t0001 others(5): Show a0005c0004t0001 a0005c0020t0001 a0005c0045t0001 a0009c0010t0001 a0011c0015t0001 a0014c0017t0001 a0015c0024t0001 a0028c0041t0001	a0005c0004t0001g0020 a0005c0004t0001g0093 a0005c0004t0001g0107 others(23): Show a0005c0004t0001g0020 a0005c0004t0001g0093 a0005c0004t0001g0107 a0005c0004t0001g0108 a0005c0004t0001g0127 a0005c0004t0001g0130 a0005c0004t0001g0131 a0005c0004t0001g0132 a0005c0004t0001g0135 a0005c0004t0001g0136 a0005c0004t0001g0137 a0005c0004t0001g0234 a0005c0020t0001g0161 a0005c0045t0001g0101 a0009c0010t0001g0148 a0009c0010t0001g0149 a0009c0010t0001g0150 a0009c0010t0001g0151 a0009c0010t0001g0286 a0011c0015t0001g0099 a0011c0015t0001g0100 a0011c0015t0001g0102 a0014c0017t0001g0282 a0014c0017t0001g0283 a0015c0024t0001g0128 a0028c0041t0001g0189	26	290	0.0897	-20	c.43 others(31): Show c.4324_*4343delACACACACACACACACACAC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding		4268		chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43578785	CGCAGGCA others(13): Show CGCAGGCATCATTCCCTACAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG01099.hp1 others(29): Show HG00099.hp1 HG00642.hp2 HG01099.hp1 HG01169.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01934.hp1 HG02145.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02602.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA18906.hp2 NA19007.hp1 NA19240.hp1	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0021	a0001c0001 a0001c0013 a0002c0002 others(4): Show a0001c0001 a0001c0013 a0002c0002 a0002c0019 a0002c0037 a0010c0011 a0021c0036	a0001c0001t0001 a0001c0013t0001 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0013t0001 a0002c0002t0001 a0002c0002t0004 a0002c0019t0001 a0002c0037t0001 a0010c0011t0001 a0021c0036t0001	a0001c0001t0001g0087 a0001c0001t0001g0236 a0001c0013t0001g0233 others(29): Show a0001c0001t0001g0087 a0001c0001t0001g0236 a0001c0013t0001g0233 a0002c0002t0001g0111 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0129 a0002c0002t0001g0133 a0002c0002t0001g0139 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0240 a0002c0002t0004g0288 a0002c0002t0004g0289 a0002c0019t0001g0124 a0002c0019t0001g0125 a0002c0037t0001g0119 a0010c0011t0001g0096 a0010c0011t0001g0098 a0010c0011t0001g0112 a0010c0011t0001g0113 a0010c0011t0001g0114 a0021c0036t0001g0138	32	290	0.1103	-20	c.322 others(39): Show c.3228+1659_3228+1678delATGTAGGGAATGATGCCTGC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	25/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43579540	GTACACGC others(13): Show GTACACGCAGGCATCATTCCC	G G	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0219 a0003c0003t0001g0219	1	290	0.0035	-20	c.322 others(37): Show c.3228+904_3228+923delGGGAATGATGCCTGCGTGTA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	25/31			chr22	TogoVar

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