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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Samplehapid

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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
EAPP_chr14_34510938_34544701	34524657	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02976.hp1 NA18522.hp1 HG02809.hp2 HG02976.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0173 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0173	3	360	0.0083	8	c.581 others(21): Show c.581+32_581+39dupCACACACA	EAPP	ENSG00000129518.10	transcript	ENST00000250454.8	protein_coding	5/5			chr14	TogoVar
EAPP_chr14_34510938_34544701	34544075	A A	ATATGTGT others(1): Show ATATGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01109.hp1 HG01192.hp2 others(13): Show HG00609.hp2 HG01109.hp1 HG01192.hp2 HG03654.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18984.hp2 NA18986.hp1 NA18993.hp2 NA19000.hp2 NA19003.hp1 NA19012.hp1 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0179 others(12): Show a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0226 a0001c0001t0001g0246 a0001c0001t0001g0264 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0290 a0001c0001t0001g0293	16	360	0.0444	8	c.-44 others(19): Show c.-4448_-4447insCACACATA	EAPP	ENSG00000129518.10	transcript	ENST00000250454.8	protein_coding		4375		chr14	TogoVar
EARS2_chr16_23515754_23562350	23548233	C C	CAATAAAT others(1): Show CAATAAATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02257.hp2 HG02258.hp1 others(16): Show HG00609.hp1 HG02257.hp2 HG02258.hp1 HG02735.hp2 HG03239.hp1 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG06807.hp1 NA18951.hp2 NA18954.hp2 NA18975.hp1 NA18981.hp1 NA18981.hp2 NA19001.hp1 NA19060.hp1 NA19074.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0028 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0028 a0002c0002t0002 a0002c0002t0009	a0001c0001t0001g0020 a0001c0001t0001g0156 a0001c0001t0001g0157 others(14): Show a0001c0001t0001g0020 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0230 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0028g0155 a0002c0002t0002g0026 a0002c0002t0002g0205 a0002c0002t0002g0208 a0002c0002t0002g0212 a0002c0002t0002g0214 a0002c0002t0009g0221	19	286	0.0664	8	c.296 others(25): Show c.296-3538_296-3531dupTATTTATT	EARS2	ENSG00000103356.18	transcript	ENST00000449606.7	protein_coding	2/8			chr16	TogoVar
EBF1_chr5_158690920_159104916	158969842	G G	GAGAAAGA others(1): Show GAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG01071.hp2 others(11): Show HG00323.hp1 HG00323.hp2 HG01071.hp2 HG01261.hp1 HG01934.hp1 HG01978.hp1 HG02622.hp2 HG02647.hp2 HG02922.hp2 HG02965.hp2 NA18906.hp1 NA19009.hp2 NA19084.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0066 a0001c0001t0069 a0001c0001t0077 a0001c0002t0003 a0001c0002t0005 a0001c0002t0013 a0001c0002t0014 a0001c0002t0061	a0001c0001t0002g0100 a0001c0001t0004g0092 a0001c0001t0004g0094 others(11): Show a0001c0001t0002g0100 a0001c0001t0004g0092 a0001c0001t0004g0094 a0001c0001t0011g0096 a0001c0001t0066g0077 a0001c0001t0069g0071 a0001c0001t0077g0088 a0001c0002t0003g0110 a0001c0002t0005g0122 a0001c0002t0005g0143 a0001c0002t0005g0165 a0001c0002t0013g0001 a0001c0002t0014g0009 a0001c0002t0061g0055	14	196	0.0714	8	c.554 others(29): Show c.554+103546_554+103553dupTTCTTTCT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158969919	A A	AGAAAGAA others(1): Show AGAAAGAAG	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18944.hp1 NA19084.hp2 HG02015.hp2 NA18944.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0019 a0001c0001t0002 a0001c0001t0010 a0001c0001t0019	a0001c0001t0002g0167 a0001c0001t0010g0081 a0001c0001t0019g0060 a0001c0001t0002g0167 a0001c0001t0010g0081 a0001c0001t0019g0060	3	196	0.0153	8	c.554 others(29): Show c.554+103476_554+103477insCTTCTTTC	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158978835	C C	CACACACA others(1): Show CACACACAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03579.hp1 HG02922.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0177 a0001c0001t0025g0178 a0001c0001t0025g0177 a0001c0001t0025g0178	2	196	0.0102	8	c.554 others(27): Show c.554+94560_554+94561insCTGTGTGT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158983897	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG01891.hp1 others(7): Show HG00738.hp2 HG01081.hp1 HG01891.hp1 HG02040.hp2 HG02071.hp2 HG02109.hp2 HG02572.hp1 HG02647.hp2 HG03540.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(7): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0018 a0001c0001t0023 a0001c0001t0043 a0001c0001t0049 a0001c0001t0066 a0001c0001t0090 a0001c0002t0064	a0001c0001t0002g0133 a0001c0001t0005g0129 a0001c0001t0008g0186 others(7): Show a0001c0001t0002g0133 a0001c0001t0005g0129 a0001c0001t0008g0186 a0001c0001t0018g0085 a0001c0001t0023g0097 a0001c0001t0043g0029 a0001c0001t0049g0044 a0001c0001t0066g0077 a0001c0001t0090g0188 a0001c0002t0064g0056	10	196	0.0510	8	c.554 others(27): Show c.554+89491_554+89498dupACACACAC	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF2_chr8_25836725_26050413	25838188	G G	GCTCTCTC others(1): Show GCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01515.hp2 HG02004.hp2 others(8): Show HG00597.hp2 HG01515.hp2 HG02004.hp2 HG02129.hp2 HG02897.hp2 HG03490.hp2 HG03704.hp2 NA18946.hp1 NA18946.hp2 NA19011.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009	a0001c0001t0001g0093 a0001c0001t0001g0121 a0001c0002t0001g0014 others(8): Show a0001c0001t0001g0093 a0001c0001t0001g0121 a0001c0002t0001g0014 a0001c0002t0001g0043 a0001c0002t0001g0089 a0001c0002t0001g0123 a0001c0002t0003g0166 a0001c0002t0003g0193 a0001c0002t0003g0194 a0001c0002t0009g0003 a0001c0002t0009g0004	11	220	0.0500	8	c.64 others(19): Show c.6420_*6421insAGAGAGAG	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding		3536		chr8	TogoVar
EBF2_chr8_25836725_26050413	25912466	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(49): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02135.hp2 HG02698.hp1 HG02738.hp2 HG03041.hp1 HG03490.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19091.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0028 a0001c0001t0034 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0015 a0001c0002t0022 a0001c0002t0032 a0001c0002t0040 a0001c0002t0041 a0001c0004t0001 a0001c0004t0003	a0001c0001t0001g0093 a0001c0001t0001g0107 a0001c0001t0001g0119 others(49): Show a0001c0001t0001g0093 a0001c0001t0001g0107 a0001c0001t0001g0119 a0001c0001t0002g0066 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0111 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0137 a0001c0001t0003g0168 a0001c0001t0006g0182 a0001c0001t0006g0191 a0001c0001t0006g0196 a0001c0001t0012g0162 a0001c0001t0028g0113 a0001c0001t0034g0153 a0001c0002t0001g0030 a0001c0002t0001g0055 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0001g0078 a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0108 a0001c0002t0001g0116 a0001c0002t0001g0126 a0001c0002t0001g0139 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0167 a0001c0002t0003g0169 a0001c0002t0003g0177 a0001c0002t0003g0178 a0001c0002t0003g0184 a0001c0002t0003g0186 a0001c0002t0003g0187 a0001c0002t0003g0194 a0001c0002t0003g0216 a0001c0002t0008g0152 a0001c0002t0015g0035 a0001c0002t0015g0040 a0001c0002t0022g0069 a0001c0002t0032g0151 a0001c0002t0040g0175 a0001c0002t0041g0192 a0001c0004t0001g0050 a0001c0004t0003g0197	52	220	0.2364	8	c.552 others(25): Show c.552-3919_552-3912dupTGTGTGTG	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	25955771	G G	GAAAGTCT others(1): Show GAAAGTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00438.hp2 others(93): Show HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00738.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02572.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp2 NA18964.hp1 NA18970.hp2 NA18983.hp1 NA18983.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0036 a0001c0001t0042 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0014 a0001c0002t0015 a0001c0002t0016 a0001c0002t0022 a0001c0002t0024 a0001c0002t0025 a0001c0002t0032 a0001c0002t0033 a0001c0002t0040 a0001c0002t0041 a0001c0004t0003 a0001c0005t0001 a0002c0003t0005 a0002c0003t0007 a0002c0003t0035	a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0048 others(93): Show a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0148 a0001c0001t0002g0033 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0147 a0001c0001t0004g0041 a0001c0001t0004g0044 a0001c0001t0004g0059 a0001c0001t0004g0070 a0001c0001t0004g0090 a0001c0001t0004g0092 a0001c0001t0006g0183 a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0012g0170 a0001c0001t0012g0172 a0001c0001t0018g0006 a0001c0001t0020g0047 a0001c0001t0036g0159 a0001c0001t0042g0220 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0023 a0001c0002t0001g0030 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0043 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0077 a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0109 a0001c0002t0001g0127 a0001c0002t0001g0132 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0178 a0001c0002t0003g0179 a0001c0002t0003g0184 a0001c0002t0003g0186 a0001c0002t0003g0189 a0001c0002t0003g0193 a0001c0002t0003g0194 a0001c0002t0003g0209 a0001c0002t0003g0216 a0001c0002t0008g0152 a0001c0002t0014g0134 a0001c0002t0015g0040 a0001c0002t0016g0198 a0001c0002t0022g0069 a0001c0002t0024g0082 a0001c0002t0025g0018 a0001c0002t0032g0151 a0001c0002t0033g0158 a0001c0002t0040g0175 a0001c0002t0041g0192 a0001c0004t0003g0197 a0001c0005t0001g0034 a0002c0003t0005g0027 a0002c0003t0005g0063 a0002c0003t0007g0205 a0002c0003t0007g0206 a0002c0003t0007g0210 a0002c0003t0007g0213 a0002c0003t0035g0157	96	220	0.4364	8	c.552 others(27): Show c.552-47224_552-47217dupGAGACTTT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	25986001	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp1 HG01261.hp1 others(7): Show HG00738.hp1 HG01109.hp1 HG01261.hp1 HG01346.hp1 HG01891.hp1 HG01978.hp1 HG02451.hp1 HG02895.hp1 HG02897.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0028 a0001c0001t0037 a0001c0002t0001 a0001c0004t0010	a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0002g0131 others(7): Show a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0002g0131 a0001c0001t0003g0185 a0001c0001t0006g0181 a0001c0001t0028g0113 a0001c0001t0037g0160 a0001c0002t0001g0079 a0001c0002t0001g0108 a0001c0004t0010g0007	10	220	0.0455	8	c.551 others(27): Show c.551+47076_551+47083dupTTTTTTTT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	26005327	A A	ATAATATA others(1): Show ATAATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02647.hp2 HG02922.hp1 others(1): Show HG02257.hp1 HG02647.hp2 HG02922.hp1 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0005 a0001c0001t0002 a0002c0003t0005	a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 others(1): Show a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0002c0003t0005g0027	4	220	0.0182	8	c.551 others(27): Show c.551+27757_551+27758insATATATTA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	26005345	A A	ATTATATA others(1): Show ATTATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02809.hp1 HG02965.hp1 others(1): Show HG01884.hp2 HG02809.hp1 HG02965.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0019 a0001c0002t0001 a0001c0004t0008 others(1): Show a0001c0001t0019 a0001c0002t0001 a0001c0004t0008 a0001c0005t0010	a0001c0001t0019g0009 a0001c0002t0001g0024 a0001c0004t0008g0156 others(1): Show a0001c0001t0019g0009 a0001c0002t0001g0024 a0001c0004t0008g0156 a0001c0005t0010g0008	4	220	0.0182	8	c.551 others(27): Show c.551+27739_551+27740insATATATAA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	26005350	T T	TAATATAT others(1): Show TAATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp1 HG02572.hp2 HG02717.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0005 a0001c0001t0001 a0002c0003t0005	a0001c0001t0001g0032 a0002c0003t0005g0145 a0001c0001t0001g0032 a0002c0003t0005g0145	2	220	0.0091	8	c.551 others(27): Show c.551+27734_551+27735insTATATATT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	26005561	T T	TAGAGAGA others(1): Show TAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03942.hp1 HG01891.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0017 a0001c0004t0010 a0001c0002t0017 a0001c0004t0010	a0001c0002t0017g0001 a0001c0004t0010g0007 a0001c0002t0017g0001 a0001c0004t0010g0007	2	220	0.0091	8	c.551 others(27): Show c.551+27516_551+27523dupCTCTCTCT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	26010988	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp2 HG01891.hp2 others(2): Show HG00735.hp1 HG01175.hp2 HG01891.hp2 HG03041.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0002t0003 a0001c0004t0003	a0001c0001t0002g0147 a0001c0001t0006g0203 a0001c0001t0009g0002 others(2): Show a0001c0001t0002g0147 a0001c0001t0006g0203 a0001c0001t0009g0002 a0001c0002t0003g0169 a0001c0004t0003g0204	5	220	0.0227	8	c.551 others(27): Show c.551+22089_551+22096dupGTGTGTGT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF3_chr10_129830233_129969274	129846108	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01257.hp1 HG01261.hp2 others(19): Show HG00544.hp1 HG01257.hp1 HG01261.hp2 HG01952.hp2 HG01993.hp2 HG02273.hp2 HG02615.hp2 HG02698.hp1 HG02886.hp1 HG03471.hp2 HG03710.hp1 HG03834.hp2 HG04199.hp2 NA18952.hp1 NA18969.hp2 NA18979.hp1 NA18992.hp2 NA19057.hp2 NA19079.hp1 NA19090.hp2 NA19091.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0055 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0126 others(19): Show a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0126 a0001c0001t0001g0190 a0001c0001t0001g0248 a0001c0001t0001g0258 a0001c0001t0002g0156 a0001c0001t0004g0036 a0001c0001t0004g0070 a0001c0001t0004g0172 a0001c0001t0005g0020 a0001c0001t0006g0086 a0001c0001t0007g0272 a0001c0001t0009g0146 a0001c0001t0012g0021 a0001c0001t0015g0137 a0001c0001t0015g0236 a0001c0001t0055g0334 a0001c0002t0002g0295 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0004g0300	22	338	0.0651	8	c.112 others(27): Show c.1128+2276_1128+2283dupCACACACA	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	11/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129904733	T T	TATCCATC others(1): Show TATCCATCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00558.hp2 others(55): Show HG00140.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG01258.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02071.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02698.hp2 HG02735.hp2 HG03041.hp1 HG03130.hp1 HG03239.hp1 HG03654.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18951.hp2 NA18954.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19067.hp1 NA19074.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0026 a0001c0001t0037 a0001c0001t0054 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0042 a0001c0006t0002	a0001c0001t0001g0032 a0001c0001t0001g0049 a0001c0001t0001g0062 others(55): Show a0001c0001t0001g0032 a0001c0001t0001g0049 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0228 a0001c0001t0001g0261 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0096 a0001c0001t0002g0151 a0001c0001t0002g0180 a0001c0001t0002g0206 a0001c0001t0002g0217 a0001c0001t0003g0026 a0001c0001t0003g0084 a0001c0001t0003g0136 a0001c0001t0003g0144 a0001c0001t0003g0187 a0001c0001t0003g0318 a0001c0001t0004g0070 a0001c0001t0004g0118 a0001c0001t0004g0129 a0001c0001t0004g0198 a0001c0001t0004g0200 a0001c0001t0004g0219 a0001c0001t0004g0250 a0001c0001t0005g0028 a0001c0001t0005g0143 a0001c0001t0005g0229 a0001c0001t0006g0087 a0001c0001t0007g0276 a0001c0001t0008g0065 a0001c0001t0008g0155 a0001c0001t0008g0188 a0001c0001t0008g0212 a0001c0001t0008g0244 a0001c0001t0008g0249 a0001c0001t0009g0146 a0001c0001t0013g0115 a0001c0001t0015g0236 a0001c0001t0018g0061 a0001c0001t0021g0152 a0001c0001t0026g0336 a0001c0001t0037g0231 a0001c0001t0054g0335 a0001c0002t0001g0286 a0001c0002t0003g0288 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0008g0306 a0001c0002t0042g0290 a0001c0006t0002g0314	58	338	0.1716	8	c.555 others(27): Show c.555-26892_555-26885dupGGATGGAT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF4_chr20_2687780_2765108	2690704	G G	GTGTGTGT others(1): Show GTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02559.hp2 HG02965.hp2 others(1): Show HG02109.hp1 HG02559.hp2 HG02965.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0293 a0001c0002t0001g0294 a0001c0003t0001g0295 others(1): Show a0001c0001t0001g0293 a0001c0002t0001g0294 a0001c0003t0001g0295 a0001c0003t0001g0296	4	388	0.0103	8	c.-29 others(19): Show c.-2942_-2941insTGTGTGTA	EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding		2075		chr20	TogoVar
EBF4_chr20_2687780_2765108	2705785	C C	CCACACAC others(1): Show CCACACACA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03942.hp1 NA18970.hp1 HG01496.hp1 HG03942.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0002t0010 a0001c0001t0002 a0001c0002t0002 a0001c0002t0010	a0001c0001t0002g0054 a0001c0002t0002g0052 a0001c0002t0010g0053 a0001c0001t0002g0054 a0001c0002t0002g0052 a0001c0002t0010g0053	3	388	0.0077	8	c.294 others(22): Show c.294+98_294+105dupACACACAC	EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
EBF4_chr20_2687780_2765108	2764300	G G	GGTGTGTG others(1): Show GGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02970.hp2 HG02976.hp1 others(2): Show HG02717.hp2 HG02970.hp2 HG02976.hp1 HG03195.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0003t0001 a0001c0004t0001 others(1): Show a0001c0001t0002 a0001c0003t0001 a0001c0004t0001 a0001c0004t0003	a0001c0001t0002g0023 a0001c0003t0001g0273 a0001c0004t0001g0010 others(2): Show a0001c0001t0002g0023 a0001c0003t0001g0273 a0001c0004t0001g0010 a0001c0004t0001g0147 a0001c0004t0003g0168	5	388	0.0129	8	c.50 others(19): Show c.5038_*5039insGTGTGTGT	EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding		4193		chr20	TogoVar
EBF4_chr20_2687780_2765108	2764619	C C	CTTTTCTT others(1): Show CTTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 NA18961.hp2 NA19056.hp1 others(3): Show HG02976.hp1 NA18961.hp2 NA19056.hp1 NA19058.hp2 NA19077.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0003t0001	a0001c0001t0001g0348 a0001c0001t0001g0365 a0001c0001t0003g0195 others(3): Show a0001c0001t0001g0348 a0001c0001t0001g0365 a0001c0001t0003g0195 a0001c0002t0003g0206 a0001c0003t0001g0273 a0001c0003t0001g0336	6	388	0.0155	8	c.53 others(19): Show c.5357_*5358insTTTTCTTT	EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding		4512		chr20	TogoVar
EBI3_chr19_4224523_4242528	4227017	C C	CTTTTTTT others(1): Show CTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00639.hp2 others(33): Show HG00099.hp1 HG00140.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp2 HG02683.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03710.hp2 HG03834.hp1 HG04184.hp2 HG04228.hp1 NA18522.hp2 NA18906.hp2 NA18943.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 a0001c0005t0001 a0001c0007t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0067 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0202 a0001c0001t0001g0238 a0001c0001t0003g0052 a0001c0003t0002g0189 a0001c0005t0001g0237 a0001c0007t0001g0129 a0002c0002t0001g0036 a0002c0002t0001g0043 a0002c0002t0001g0135 a0002c0002t0002g0008 a0002c0002t0002g0038 a0002c0002t0002g0058 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0165 a0002c0002t0002g0203	36	438	0.0822	8	c.-25 others(19): Show c.-2534_-2533insTTTTTTTT	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding		2505		chr19	TogoVar
EBI3_chr19_4224523_4242528	4236518	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00544.hp2 others(39): Show HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00673.hp1 HG01099.hp1 HG01496.hp2 HG01952.hp1 HG02055.hp1 HG02071.hp1 HG02129.hp1 HG02683.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03209.hp2 HG03239.hp1 HG03654.hp2 HG03688.hp2 HG04199.hp2 HG04204.hp1 NA18946.hp2 NA18947.hp1 NA18959.hp1 NA18967.hp1 NA18979.hp2 NA18981.hp2 NA18991.hp2 NA18997.hp2 NA18998.hp1 NA19001.hp1 NA19010.hp2 NA19012.hp1 NA19055.hp1 NA19055.hp2 NA19060.hp2 NA19080.hp2 NA19087.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0002 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0003t0002 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005	a0001c0001t0001g0080 a0001c0001t0001g0177 a0001c0003t0002g0194 others(21): Show a0001c0001t0001g0080 a0001c0001t0001g0177 a0001c0003t0002g0194 a0002c0002t0002g0003 a0002c0002t0002g0014 a0002c0002t0002g0019 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0090 a0002c0002t0002g0093 a0002c0002t0002g0105 a0002c0002t0002g0110 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0121 a0002c0002t0002g0124 a0002c0002t0002g0134 a0002c0002t0002g0145 a0002c0002t0002g0186 a0002c0002t0002g0212 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0004g0003 a0002c0002t0005g0215	42	438	0.0959	8	c.538 others(23): Show c.538-400_538-393dupAAAAAAAA	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
EBLN2_chr3_73056659_73068337	73066239	C C	CATACATA others(1): Show CATACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02809.hp2 others(6): Show HG01891.hp1 HG02055.hp2 HG02809.hp2 HG02922.hp1 HG02976.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 NA19030.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0003c0010 a0002c0002 a0003c0003 a0003c0010	a0002c0002t0003 a0002c0002t0012 a0002c0002t0023 others(2): Show a0002c0002t0003 a0002c0002t0012 a0002c0002t0023 a0003c0003t0001 a0003c0010t0015	a0002c0002t0003g0000 a0002c0002t0012g0000 a0002c0002t0023g0000 others(2): Show a0002c0002t0003g0000 a0002c0002t0012g0000 a0002c0002t0023g0000 a0003c0003t0001g0000 a0003c0010t0015g0000	9	428	0.0210	8	c.33 others(19): Show c.3339_*3340insATACATAT	EBLN2	ENSG00000255423.1	transcript	ENST00000533473.1	protein_coding		2903		chr3	TogoVar
EBLN2_chr3_73056659_73068337	73066239	C C	CATATATA others(1): Show CATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01255.hp2 HG02040.hp2 others(32): Show HG00423.hp2 HG01255.hp2 HG02040.hp2 HG02132.hp1 HG02145.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02735.hp1 HG02818.hp2 HG03130.hp1 HG03130.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18612.hp1 NA18943.hp2 NA18944.hp2 NA18960.hp2 NA18968.hp2 NA19009.hp1 NA19068.hp2 NA19072.hp2 NA19077.hp1 NA19084.hp2 NA19089.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0006	a0002c0002 a0003c0003 a0005c0006 others(1): Show a0002c0002 a0003c0003 a0005c0006 a0006c0007	a0002c0002t0002 a0003c0003t0002 a0003c0003t0008 others(3): Show a0002c0002t0002 a0003c0003t0002 a0003c0003t0008 a0003c0003t0024 a0005c0006t0002 a0006c0007t0002	a0002c0002t0002g0000 a0003c0003t0002g0000 a0003c0003t0008g0000 others(3): Show a0002c0002t0002g0000 a0003c0003t0002g0000 a0003c0003t0008g0000 a0003c0003t0024g0000 a0005c0006t0002g0000 a0006c0007t0002g0000	35	428	0.0818	8	c.33 others(19): Show c.3339_*3340insATATATAT	EBLN2	ENSG00000255423.1	transcript	ENST00000533473.1	protein_coding		2903		chr3	TogoVar
EBNA1BP2_chr1_43159184_43177290	43161852	C C	CAATAAAT others(1): Show CAATAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG01255.hp1 others(33): Show HG00558.hp2 HG00639.hp1 HG01255.hp1 HG01346.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02071.hp1 HG02109.hp2 HG02148.hp2 HG02155.hp1 HG02273.hp1 HG02559.hp2 HG02572.hp1 HG02717.hp1 HG02723.hp1 HG03098.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03688.hp2 NA18941.hp2 NA18956.hp2 NA18959.hp2 NA18964.hp1 NA18990.hp1 NA18991.hp1 NA19005.hp1 NA19007.hp1 NA19055.hp1 NA19057.hp1 NA19063.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0003t0003 a0003c0005t0001 a0001c0001t0001 a0001c0003t0003 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0003t0003g0006 a0003c0005t0001g0035	36	392	0.0918	8	c.25 others(19): Show c.2590_*2591insTATTTATT	EBNA1BP2	ENSG00000117395.13	transcript	ENST00000236051.3	protein_coding		2331		chr1	TogoVar
EBPL_chr13_49655674_49696486	49673962	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00741.hp1 others(21): Show HG00140.hp2 HG00639.hp2 HG00741.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG02148.hp2 HG02273.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03704.hp1 HG03942.hp1 NA19009.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0047 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216	24	410	0.0585	8	c.172 others(25): Show c.172-4124_172-4117dupGTGTGTGT	EBPL	ENSG00000123179.14	transcript	ENST00000242827.11	protein_coding	1/3			chr13	TogoVar
EBP_chrX_48516808_48533716	48522003	G G	GCCCCCCC others(1): Show GCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	311	0.0032	8	c.-74 others(22): Show c.-74+97_-74+104dupCCCCCCCC	EBP	ENSG00000147155.11	transcript	ENST00000495186.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
ECD_chr10_73128668_73173008	73159642	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG00642.hp2 others(26): Show HG00544.hp2 HG00621.hp1 HG00642.hp2 HG00735.hp2 HG01243.hp2 HG01256.hp2 HG01891.hp2 HG01978.hp1 HG02055.hp1 HG02080.hp2 HG02145.hp1 HG02280.hp2 HG02559.hp1 HG02647.hp1 HG02647.hp2 HG02818.hp2 HG02897.hp2 HG02922.hp1 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 NA18522.hp1 NA18984.hp1 NA19005.hp2 NA19060.hp1 NA19066.hp2 NA19083.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0003 a0003c0004 others(1): Show a0002c0002 a0002c0003 a0003c0004 a0003c0005	a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 others(3): Show a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 a0002c0003t0004 a0003c0004t0003 a0003c0005t0003	a0002c0002t0002g0017 a0002c0002t0002g0051 a0002c0002t0002g0052 others(21): Show a0002c0002t0002g0017 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0003g0048 a0002c0003t0002g0016 a0002c0003t0002g0053 a0002c0003t0004g0034 a0002c0003t0004g0035 a0003c0004t0003g0022 a0003c0004t0003g0096 a0003c0004t0003g0099 a0003c0004t0003g0100 a0003c0004t0003g0101 a0003c0004t0003g0102 a0003c0004t0003g0103 a0003c0004t0003g0105 a0003c0004t0003g0107 a0003c0005t0003g0020 a0003c0005t0003g0021 a0003c0005t0003g0097 a0003c0005t0003g0098	29	272	0.1066	8	c.323 others(23): Show c.323+784_323+791dupAAAAAAAA	ECD	ENSG00000122882.11	transcript	ENST00000372979.9	protein_coding	3/13			chr10	TogoVar
ECE2_chr3_184271022_184298031	184274718	T T	TGAAAGAA others(1): Show TGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00735.hp1 HG01891.hp1 others(8): Show HG00597.hp2 HG00735.hp1 HG01891.hp1 HG03130.hp1 HG03209.hp2 HG03688.hp2 HG03704.hp2 NA18968.hp2 NA18975.hp1 NA19055.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0002g0002 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0002g0002 a0001c0001t0002g0047 a0001c0001t0003g0027 a0001c0001t0003g0055 a0001c0002t0001g0011 a0001c0002t0001g0135 a0001c0002t0001g0164	11	398	0.0276	8	c.-14 others(19): Show c.-1436_-1435insGAAAGAAA	ECE2	ENSG00000145194.19	transcript	ENST00000404464.8	protein_coding		1303		chr3	TogoVar
ECH1_chr19_38810422_38836794	38818901	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00738.hp2 others(21): Show HG00140.hp2 HG00280.hp1 HG00738.hp2 HG01099.hp2 HG01516.hp2 HG01517.hp2 HG01975.hp2 HG01981.hp2 HG02083.hp1 HG02886.hp2 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG03710.hp1 HG03942.hp1 HG06807.hp2 NA18940.hp1 NA18942.hp2 NA18959.hp2 NA19070.hp2 NA19077.hp2 NA19081.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0038 a0001c0001t0001g0082 a0001c0001t0001g0083 others(13): Show a0001c0001t0001g0038 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0148 a0001c0001t0001g0157 a0002c0002t0001g0010 a0002c0002t0001g0051 a0002c0002t0001g0060 a0002c0002t0001g0193 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0228 a0002c0002t0001g0229	24	420	0.0571	8	c.350 others(25): Show c.350-1334_350-1327dupCACACACA	ECH1	ENSG00000104823.9	transcript	ENST00000221418.9	protein_coding	3/9			chr19	TogoVar
ECH1_chr19_38810422_38836794	38818932	T T	TGTGTGCG others(1): Show TGTGTGCGC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG04115.hp2 NA18960.hp2 HG03927.hp1 HG04115.hp2 NA18960.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0012 a0001c0001 a0002c0002 a0008c0012	a0001c0001t0001 a0002c0002t0001 a0008c0012t0001 a0001c0001t0001 a0002c0002t0001 a0008c0012t0001	a0001c0001t0001g0116 a0002c0002t0001g0217 a0008c0012t0001g0098 a0001c0001t0001g0116 a0002c0002t0001g0217 a0008c0012t0001g0098	3	420	0.0071	8	c.350 others(25): Show c.350-1358_350-1357insGCGCACAC	ECH1	ENSG00000104823.9	transcript	ENST00000221418.9	protein_coding	3/9			chr19	TogoVar
ECH1_chr19_38810422_38836794	38819008	T T	TGTGTGTG others(1): Show TGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp2 NA19030.hp2 HG02622.hp1 HG02717.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0198 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0001g0198 a0002c0002t0002g0242 a0002c0002t0002g0243	3	420	0.0071	8	c.350 others(25): Show c.350-1434_350-1433insGCACACAC	ECH1	ENSG00000104823.9	transcript	ENST00000221418.9	protein_coding	3/9			chr19	TogoVar
ECHDC1_chr6_127283712_127348609	127307648	G G	GAAAAAAA others(1): Show GAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02071.hp2 HG02630.hp2 others(8): Show HG01993.hp1 HG02071.hp2 HG02630.hp2 HG02809.hp2 HG03098.hp2 HG03195.hp2 HG03579.hp2 NA18967.hp1 NA18988.hp1 NA18999.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0154 others(6): Show a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0220	11	358	0.0307	8	c.497 others(25): Show c.497+7160_497+7167dupTTTTTTTT	ECHDC1	ENSG00000093144.19	transcript	ENST00000454859.8	protein_coding	5/5			chr6	TogoVar
ECHDC1_chr6_127283712_127348609	127333666	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01192.hp1 HG01346.hp2 others(4): Show HG01106.hp1 HG01192.hp1 HG01346.hp2 HG01891.hp1 HG02486.hp2 HG03041.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0102 a0001c0001t0002g0245 a0001c0001t0002g0246 others(4): Show a0001c0001t0001g0102 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0003g0201	7	358	0.0196	8	c.-2- others(23): Show c.-2-2644_-2-2637dupGTGTGTGT	ECHDC1	ENSG00000093144.19	transcript	ENST00000454859.8	protein_coding	1/5			chr6	TogoVar
ECHDC1_chr6_127283712_127348609	127339709	A A	ATTGCAGT others(1): Show ATTGCAGTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00733.hp2 HG02559.hp1 others(8): Show HG00438.hp2 HG00733.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03927.hp1 HG04115.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(5): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193	11	358	0.0307	8	c.-3+ others(23): Show c.-3+3626_-3+3627insAACTGCAA	ECHDC1	ENSG00000093144.19	transcript	ENST00000454859.8	protein_coding	1/5			chr6	TogoVar
ECHDC3_chr10_11737382_11769070	11752278	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00738.hp2 others(23): Show HG00140.hp1 HG00639.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01255.hp1 HG01358.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01952.hp2 HG02040.hp2 HG02273.hp1 HG02293.hp2 HG02602.hp2 HG02970.hp2 HG03225.hp2 HG03710.hp2 HG03831.hp1 NA18994.hp1 NA19004.hp2 NA19055.hp2 NA19085.hp1 NA19091.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0004 a0003c0026 a0001c0005 a0003c0004 a0003c0026	a0001c0005t0001 a0003c0004t0001 a0003c0026t0001 a0001c0005t0001 a0003c0004t0001 a0003c0026t0001	a0001c0005t0001g0014 a0001c0005t0001g0106 a0003c0004t0001g0013 others(12): Show a0001c0005t0001g0014 a0001c0005t0001g0106 a0003c0004t0001g0013 a0003c0004t0001g0014 a0003c0004t0001g0015 a0003c0004t0001g0103 a0003c0004t0001g0105 a0003c0004t0001g0107 a0003c0004t0001g0108 a0003c0004t0001g0109 a0003c0004t0001g0112 a0003c0004t0001g0113 a0003c0004t0001g0114 a0003c0004t0001g0115 a0003c0026t0001g0101	26	420	0.0619	8	c.390 others(25): Show c.390+2700_390+2707dupTTTTTTTT	ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
ECHS1_chr10_133357485_133378354	133363380	C C	CGCATCTG others(1): Show CGCATCTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(91): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02055.hp1 HG02071.hp2 HG02083.hp1 HG02135.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG03017.hp1 HG03225.hp2 HG03239.hp2 HG03688.hp1 HG03831.hp2 HG03942.hp1 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18962.hp2 NA18969.hp2 NA18972.hp2 NA18974.hp2 NA18983.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp2 NA19063.hp2 NA19082.hp1 NA19084.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0008 a0002c0002 others(1): Show a0001c0001 a0001c0008 a0002c0002 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0008t0001 a0002c0002t0001 a0005c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(37): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0002g0017 a0001c0001t0002g0030 a0001c0001t0002g0091 a0001c0001t0002g0098 a0001c0001t0003g0058 a0001c0008t0001g0044 a0001c0008t0001g0045 a0001c0008t0001g0083 a0002c0002t0001g0040 a0002c0002t0001g0151 a0002c0002t0001g0155 a0002c0002t0001g0169 a0002c0002t0001g0171 a0005c0010t0001g0106	94	354	0.2655	8	c.808 others(23): Show c.808-448_808-447insACAGATGC	ECHS1	ENSG00000127884.5	transcript	ENST00000368547.4	protein_coding	7/7			chr10	TogoVar
ECHS1_chr10_133357485_133378354	133373698	C C	CGCCCGCC others(1): Show CGCCCGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG00621.hp1 others(57): Show HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00735.hp2 HG01099.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01978.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02818.hp1 HG02965.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18939.hp1 NA18944.hp1 NA18948.hp1 NA18954.hp1 NA18967.hp1 NA18971.hp1 NA18971.hp2 NA18994.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19067.hp1 NA19074.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0005 a0003c0006t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(39): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0059 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0002g0017 a0002c0002t0001g0003 a0002c0002t0001g0035 a0002c0002t0001g0120 a0002c0002t0001g0132 a0002c0002t0001g0142 a0002c0002t0001g0166 a0002c0002t0002g0014 a0002c0002t0002g0041 a0003c0003t0001g0126 a0003c0003t0002g0021 a0003c0003t0002g0124 a0003c0003t0002g0127 a0003c0003t0002g0133 a0003c0003t0003g0023 a0003c0003t0003g0024 a0003c0003t0003g0135 a0003c0003t0003g0163 a0003c0003t0003g0164 a0003c0003t0004g0134 a0003c0003t0005g0165 a0003c0006t0002g0130 a0003c0006t0002g0147	60	354	0.1695	8	c.-36 others(17): Show c.-366_-365insAGGCGGGC	ECHS1	ENSG00000127884.5	transcript	ENST00000368547.4	protein_coding		345		chr10	TogoVar
ECI2_chr6_4110706_4140575	4129089	T T	TCTCCCTC others(1): Show TCTCCCTCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02109.hp1 others(10): Show HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp2 HG02572.hp1 HG02717.hp2 HG02895.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG06807.hp1 NA19043.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0010c0014 a0002c0002 a0010c0014	a0002c0002t0001 a0010c0014t0001 a0002c0002t0001 a0010c0014t0001	a0002c0002t0001g0017 a0002c0002t0001g0025 a0002c0002t0001g0038 others(4): Show a0002c0002t0001g0017 a0002c0002t0001g0025 a0002c0002t0001g0038 a0002c0002t0001g0072 a0002c0002t0001g0127 a0002c0002t0001g0128 a0010c0014t0001g0129	13	370	0.0351	8	c.502 others(25): Show c.502-1266_502-1259dupGGAGGGAG	ECI2	ENSG00000198721.13	transcript	ENST00000380118.8	protein_coding	4/9			chr6	TogoVar
ECM1_chr1_150503109_150518789	150503585	A A	ATATATGT others(1): Show ATATATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01358.hp1 HG01433.hp2 others(2): Show HG00738.hp1 HG01358.hp1 HG01433.hp2 HG02738.hp1 HG03491.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0025 a0002c0002t0001g0002 a0002c0002t0001g0013 a0001c0001t0001g0025 a0002c0002t0001g0002 a0002c0002t0001g0013	5	420	0.0119	8	c.-46 others(19): Show c.-4625_-4624insTATATGTG	ECM1	ENSG00000143369.15	transcript	ENST00000369047.9	protein_coding		4523		chr1	TogoVar
ECM1_chr1_150503109_150518789	150503585	A A	ATATGTGT others(1): Show ATATGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01891.hp1 HG02109.hp2 others(5): Show HG00735.hp2 HG01891.hp1 HG02109.hp2 HG02280.hp1 HG02809.hp2 NA18942.hp2 NA18969.hp2 NA18989.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0032 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0032 a0001c0001t0001g0038 a0002c0002t0001g0013	8	420	0.0191	8	c.-46 others(19): Show c.-4625_-4624insTATGTGTG	ECM1	ENSG00000143369.15	transcript	ENST00000369047.9	protein_coding		4523		chr1	TogoVar
ECM1_chr1_150503109_150518789	150506484	G G	GCACACAC others(1): Show GCACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02622.hp1 others(14): Show HG02451.hp2 HG02572.hp2 HG02622.hp1 HG02717.hp1 HG02895.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03471.hp1 NA18951.hp2 NA18955.hp1 NA18975.hp1 NA18980.hp1 NA18981.hp1 NA18997.hp2 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 a0001c0001t0001 a0001c0007t0001 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0041 a0001c0007t0001g0005 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0041 a0001c0007t0001g0005 a0002c0002t0001g0002	17	420	0.0405	8	c.-17 others(19): Show c.-1726_-1725insCACACACA	ECM1	ENSG00000143369.15	transcript	ENST00000369047.9	protein_coding		1624		chr1	TogoVar
ECM1_chr1_150503109_150518789	150507566	C C	CTAAATAA others(1): Show CTAAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01074.hp1 HG01074.hp2 others(11): Show HG00099.hp2 HG01074.hp1 HG01074.hp2 HG01952.hp1 HG02258.hp2 HG02451.hp1 HG02572.hp1 HG02735.hp1 HG02896.hp1 HG02965.hp1 HG03540.hp1 NA19043.hp1 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0023 a0001c0003t0001g0033 others(2): Show a0001c0003t0001g0003 a0001c0003t0001g0023 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0039	14	420	0.0333	8	c.-64 others(17): Show c.-644_-643insTAAATAAA	ECM1	ENSG00000143369.15	transcript	ENST00000369047.9	protein_coding		542		chr1	TogoVar
ECPAS_chr9_111355685_111489383	111415252	T T	TGTGTGTG others(1): Show TGTGTGTGA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18961.hp2 NA18968.hp1 NA18949.hp2 NA18961.hp2 NA18968.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0003 a0002c0003t0001 a0002c0003t0003	a0002c0003t0001g0267 a0002c0003t0001g0268 a0002c0003t0003g0278 a0002c0003t0001g0267 a0002c0003t0001g0268 a0002c0003t0003g0278	3	354	0.0085	8	c.176 others(25): Show c.1765-602_1765-601insTCACACAC	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	18/49			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111466616	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02165.hp1 HG02622.hp2 others(13): Show HG00673.hp1 HG02165.hp1 HG02622.hp2 HG02630.hp1 HG02809.hp2 HG03688.hp2 HG03834.hp2 NA18962.hp2 NA18983.hp2 NA18992.hp1 NA18998.hp2 NA19011.hp2 NA19012.hp2 NA19066.hp2 NA19074.hp2 NA19083.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0009	a0002c0002 a0002c0003 a0002c0004 others(3): Show a0002c0002 a0002c0003 a0002c0004 a0003c0005 a0004c0007 a0009c0016	a0002c0002t0001 a0002c0003t0001 a0002c0004t0001 others(3): Show a0002c0002t0001 a0002c0003t0001 a0002c0004t0001 a0003c0005t0002 a0004c0007t0001 a0009c0016t0002	a0002c0002t0001g0038 a0002c0002t0001g0239 a0002c0003t0001g0266 others(13): Show a0002c0002t0001g0038 a0002c0002t0001g0239 a0002c0003t0001g0266 a0002c0003t0001g0296 a0002c0004t0001g0330 a0003c0005t0002g0252 a0003c0005t0002g0253 a0003c0005t0002g0258 a0003c0005t0002g0259 a0003c0005t0002g0260 a0003c0005t0002g0261 a0003c0005t0002g0262 a0003c0005t0002g0298 a0003c0005t0002g0300 a0004c0007t0001g0349 a0009c0016t0002g0250	16	354	0.0452	8	c.22+ others(23): Show c.22+6273_22+6280dupGTGTGTGT	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/49			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111470746	C C	CCACACAC others(1): Show CCACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00544.hp2 others(44): Show HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00558.hp1 HG00639.hp2 HG00735.hp2 HG01123.hp1 HG01243.hp2 HG01261.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01952.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02132.hp2 HG02273.hp2 HG02486.hp2 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03579.hp1 HG03654.hp1 HG03704.hp1 HG04184.hp1 HG06807.hp2 NA18944.hp1 NA18952.hp1 NA18963.hp2 NA18964.hp2 NA18974.hp2 NA18983.hp1 NA18986.hp2 NA18991.hp1 NA19005.hp2 NA19007.hp2 NA19062.hp2 NA19068.hp1 NA19070.hp1 NA19081.hp1 NA19087.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0013 a0002c0002 others(2): Show a0001c0001 a0001c0013 a0002c0002 a0002c0004 a0008c0011	a0001c0001t0001 a0001c0013t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0013t0001 a0002c0002t0001 a0002c0004t0001 a0008c0011t0001	a0001c0001t0001g0118 a0001c0001t0001g0163 a0001c0001t0001g0164 others(43): Show a0001c0001t0001g0118 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0013t0001g0237 a0002c0002t0001g0003 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0004t0001g0313 a0002c0004t0001g0315 a0002c0004t0001g0332 a0008c0011t0001g0007	47	354	0.1328	8	c.22+ others(23): Show c.22+2143_22+2150dupTGTGTGTG	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/49			chr9	TogoVar
ECRG4_chr2_106060688_106083155	106071322	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18966.hp1 NA18983.hp2 others(4): Show HG02040.hp2 NA18966.hp1 NA18983.hp2 NA18995.hp1 NA19007.hp1 NA19007.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0051 a0001c0001t0001g0131 a0001c0001t0001g0287 others(3): Show a0001c0001t0001g0051 a0001c0001t0001g0131 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0298 a0001c0002t0001g0065	7	434	0.0161	8	c.80- others(21): Show c.80-499_80-492dupAAAAAAAA	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECSCR_chr5_139443560_139467743	139446465	T T	TTTTCTTT others(1): Show TTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG02129.hp1 others(7): Show HG00597.hp1 HG00597.hp2 HG02129.hp1 HG02145.hp1 HG02622.hp1 NA18986.hp2 NA19060.hp2 NA19068.hp1 NA19068.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0025 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0098 a0001c0001t0001g0118 a0001c0001t0001g0151	10	369	0.0271	8	c.24 others(19): Show c.2434_*2435insGAAAGAAA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2094		chr5	TogoVar

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