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

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
HECW1_chr7_43107647_43571001	43210450	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG00738.hp2 others(15): Show HG00099.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01361.hp1 HG01496.hp1 HG03486.hp2 NA18952.hp1 NA18992.hp1 NA19087.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0014 a0002c0005 a0002c0009 a0002c0016 a0007c0020	a0001c0001t0001 a0001c0002t0003 a0001c0004t0001 others(8): Show a0001c0001t0001 a0001c0002t0003 a0001c0004t0001 a0001c0006t0003 a0001c0007t0006 a0001c0014t0001 a0002c0005t0001 a0002c0005t0008 a0002c0009t0001 a0002c0016t0006 a0007c0020t0004	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0002t0003g0151 others(15): Show a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0002t0003g0151 a0001c0004t0001g0061 a0001c0006t0003g0096 a0001c0007t0006g0138 a0001c0007t0006g0139 a0001c0007t0006g0154 a0001c0007t0006g0156 a0001c0014t0001g0091 a0002c0005t0001g0153 a0002c0005t0008g0083 a0002c0005t0008g0084 a0002c0005t0008g0086 a0002c0009t0001g0137 a0002c0009t0001g0152 a0002c0016t0006g0143 a0007c0020t0004g0020	18	182	0.0989	8	c.-31 others(27): Show c.-31-33405_-31-33398dupTGTGTGTG	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43241616	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA19009.hp1 HG01175.hp1 NA19009.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0020 a0001c0001 a0007c0020	a0001c0001t0004 a0007c0020t0004 a0001c0001t0004 a0007c0020t0004	a0001c0001t0004g0044 a0007c0020t0004g0020 a0001c0001t0004g0044 a0007c0020t0004g0020	2	182	0.0110	8	c.-31 others(25): Show c.-31-2221_-31-2214dupGTGTGTGT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43262247	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG02895.hp1 others(1): Show HG01243.hp1 HG02559.hp2 HG02895.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0017 others(1): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0017 a0001c0002t0027	a0001c0002t0001g0126 a0001c0002t0005g0059 a0001c0002t0017g0058 others(1): Show a0001c0002t0001g0126 a0001c0002t0005g0059 a0001c0002t0017g0058 a0001c0002t0027g0142	4	182	0.0220	8	c.27+ others(25): Show c.27+18326_27+18333dupGTGTGTGT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43317809	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19066.hp2 HG00621.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0062 a0001c0001t0001g0064	2	182	0.0110	8	c.353 others(25): Show c.353-2790_353-2783dupGTGTGTGT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	4/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43319775	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01109.hp1 HG02027.hp2 others(10): Show HG00673.hp1 HG01109.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02145.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0016 a0001c0001t0018 a0001c0001t0035 a0001c0002t0001 a0001c0002t0005 a0001c0002t0028 a0001c0004t0001 a0001c0004t0003 a0001c0004t0009 a0001c0006t0002	a0001c0001t0001g0114 a0001c0001t0002g0036 a0001c0001t0005g0175 others(10): Show a0001c0001t0001g0114 a0001c0001t0002g0036 a0001c0001t0005g0175 a0001c0001t0016g0041 a0001c0001t0018g0074 a0001c0001t0035g0025 a0001c0002t0001g0099 a0001c0002t0005g0059 a0001c0002t0028g0173 a0001c0004t0001g0061 a0001c0004t0003g0077 a0001c0004t0009g0121 a0001c0006t0002g0050	13	182	0.0714	8	c.353 others(23): Show c.353-850_353-843dupTTTTTTTT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	4/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43412425	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02027.hp2 HG02056.hp2 others(5): Show HG00558.hp2 HG02027.hp2 HG02056.hp2 HG03540.hp2 NA18942.hp1 NA19066.hp2 NA19085.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0006t0003	a0001c0001t0001g0062 a0001c0001t0001g0114 a0001c0001t0001g0116 others(5): Show a0001c0001t0001g0062 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0002g0031 a0001c0001t0004g0026 a0001c0001t0004g0039 a0001c0001t0004g0057 a0001c0006t0003g0150	8	182	0.0440	8	c.801 others(25): Show c.801+4722_801+4729dupATTTATTT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	8/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43425304	T T	TGATAGAT others(1): Show TGATAGATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG00673.hp2 others(53): Show HG00408.hp1 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01109.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01884.hp1 HG01943.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02723.hp2 HG02735.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03540.hp1 HG03540.hp2 HG03834.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18941.hp2 NA18942.hp1 NA18968.hp1 NA18968.hp2 NA18983.hp1 NA19009.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0013 a0001c0014 a0001c0021 a0002c0005 a0003c0008 a0003c0028 a0004c0011 a0005c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0001c0004t0009 a0001c0004t0013 a0001c0006t0003 a0001c0006t0004 a0001c0006t0033 a0001c0013t0006 a0001c0014t0001 a0001c0021t0029 a0002c0005t0002 a0002c0005t0008 a0003c0008t0001 a0003c0008t0010 a0003c0028t0010 a0004c0011t0005 a0005c0026t0025	a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0114 others(53): Show a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0131 a0001c0001t0002g0019 a0001c0001t0003g0097 a0001c0001t0003g0128 a0001c0001t0004g0001 a0001c0001t0004g0026 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0039 a0001c0001t0004g0044 a0001c0001t0004g0047 a0001c0001t0005g0175 a0001c0001t0012g0159 a0001c0001t0014g0005 a0001c0001t0015g0012 a0001c0001t0016g0041 a0001c0001t0018g0074 a0001c0001t0022g0067 a0001c0002t0001g0141 a0001c0002t0003g0066 a0001c0002t0003g0105 a0001c0002t0003g0106 a0001c0002t0003g0124 a0001c0002t0005g0167 a0001c0002t0005g0180 a0001c0003t0001g0071 a0001c0003t0001g0102 a0001c0003t0001g0120 a0001c0004t0001g0061 a0001c0004t0001g0063 a0001c0004t0001g0108 a0001c0004t0003g0077 a0001c0004t0009g0121 a0001c0004t0013g0068 a0001c0006t0003g0111 a0001c0006t0003g0150 a0001c0006t0004g0009 a0001c0006t0033g0042 a0001c0013t0006g0101 a0001c0014t0001g0132 a0001c0021t0029g0093 a0002c0005t0002g0007 a0002c0005t0008g0083 a0002c0005t0008g0086 a0003c0008t0001g0133 a0003c0008t0001g0174 a0003c0008t0010g0081 a0003c0028t0010g0169 a0004c0011t0005g0181 a0004c0011t0005g0182 a0005c0026t0025g0149	56	182	0.3077	8	c.802 others(27): Show c.802-12667_802-12660dupAGATAGAT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	8/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43488434	G G	GAGAAAGA others(1): Show GAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00558.hp2 others(22): Show HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG01255.hp1 HG01517.hp1 HG02055.hp2 HG02280.hp2 HG02615.hp1 HG02723.hp2 HG02976.hp1 HG03195.hp2 HG03486.hp1 NA18941.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18957.hp2 NA18968.hp2 NA18971.hp1 NA18983.hp2 NA19009.hp1 NA19068.hp1 NA19087.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0022 a0004c0015	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0018 a0001c0001t0024 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0006t0019 a0001c0022t0020 a0004c0015t0001	a0001c0001t0002g0045 a0001c0001t0002g0088 a0001c0001t0003g0128 others(22): Show a0001c0001t0002g0045 a0001c0001t0002g0088 a0001c0001t0003g0128 a0001c0001t0004g0010 a0001c0001t0004g0044 a0001c0001t0004g0047 a0001c0001t0004g0057 a0001c0001t0005g0163 a0001c0001t0012g0144 a0001c0001t0012g0159 a0001c0001t0018g0074 a0001c0001t0024g0070 a0001c0002t0001g0122 a0001c0003t0001g0071 a0001c0003t0001g0120 a0001c0003t0001g0140 a0001c0003t0001g0155 a0001c0003t0004g0048 a0001c0004t0001g0061 a0001c0004t0001g0063 a0001c0004t0001g0085 a0001c0004t0001g0092 a0001c0006t0019g0073 a0001c0022t0020g0146 a0004c0015t0001g0176	25	182	0.1374	8	c.323 others(27): Show c.3235-3593_3235-3586dupAAGAAAGA	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43530504	T T	TATGGATG others(1): Show TATGGATGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01069.hp1 others(8): Show HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01192.hp2 HG01361.hp1 HG01496.hp2 HG01943.hp2 HG02735.hp1 HG03834.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0001c0013 a0001c0023 others(2): Show a0001c0007 a0001c0013 a0001c0023 a0001c0027 a0002c0016	a0001c0007t0006 a0001c0007t0011 a0001c0013t0006 others(3): Show a0001c0007t0006 a0001c0007t0011 a0001c0013t0006 a0001c0023t0006 a0001c0027t0011 a0002c0016t0006	a0001c0007t0006g0138 a0001c0007t0006g0139 a0001c0007t0006g0154 others(8): Show a0001c0007t0006g0138 a0001c0007t0006g0139 a0001c0007t0006g0154 a0001c0007t0006g0156 a0001c0007t0011g0013 a0001c0007t0011g0089 a0001c0013t0006g0101 a0001c0013t0006g0158 a0001c0023t0006g0136 a0001c0027t0011g0006 a0002c0016t0006g0143	11	182	0.0604	8	c.402 others(29): Show c.4020-10633_4020-10626dupTGGATGGA	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43568161	C C	CTGTGTGT others(1): Show CTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 NA21309.hp2 HG02280.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0019 a0001c0003t0001 a0001c0006t0019	a0001c0003t0001g0075 a0001c0006t0019g0073 a0001c0003t0001g0075 a0001c0006t0019g0073	2	182	0.0110	8	c.62 others(19): Show c.6235_*6236insTGTGTGTG	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding		2161		chr7	TogoVar
HECW2_chr2_196189072_196598554	196204336	T T	TTTTGTTT others(1): Show TTTTGTTTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02970.hp2 HG03195.hp1 others(2): Show HG01884.hp1 HG02970.hp2 HG03195.hp1 HG06807.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0010 others(1): Show a0001c0001 a0001c0008 a0001c0010 a0001c0020	a0001c0001t0025 a0001c0001t0028 a0001c0008t0005 others(2): Show a0001c0001t0025 a0001c0001t0028 a0001c0008t0005 a0001c0010t0018 a0001c0020t0016	a0001c0001t0025g0021 a0001c0001t0028g0112 a0001c0008t0005g0086 others(2): Show a0001c0001t0025g0021 a0001c0001t0028g0112 a0001c0008t0005g0086 a0001c0010t0018g0043 a0001c0020t0016g0037	5	112	0.0446	8	c.460 others(27): Show c.4608-2956_4608-2949dupCAAACAAA	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	28/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196248587	G G	GAGAGAGA others(1): Show GAGAGAGAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01168.hp1 HG01168.hp2 others(15): Show HG00642.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01261.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG02109.hp1 HG02717.hp1 HG02735.hp2 HG03130.hp1 HG03540.hp2 HG04204.hp1 NA18906.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0014 a0002c0012	a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 others(13): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0014 a0001c0002t0015 a0001c0002t0031 a0001c0006t0002 a0001c0009t0020 a0001c0014t0026 a0002c0012t0002 a0002c0012t0004	a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0006g0014 others(15): Show a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0006g0014 a0001c0001t0012g0034 a0001c0001t0014g0005 a0001c0002t0001g0051 a0001c0002t0001g0104 a0001c0002t0004g0006 a0001c0002t0005g0091 a0001c0002t0006g0077 a0001c0002t0014g0004 a0001c0002t0015g0036 a0001c0002t0031g0042 a0001c0006t0002g0092 a0001c0009t0020g0087 a0001c0014t0026g0078 a0002c0012t0002g0064 a0002c0012t0004g0095	18	112	0.1607	8	c.352 others(27): Show c.3529+5332_3529+5333insGTCTCTCT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	19/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196248597	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp2 HG02723.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0028 a0001c0001t0004 a0001c0001t0028	a0001c0001t0004g0110 a0001c0001t0028g0112 a0001c0001t0004g0110 a0001c0001t0028g0112	2	112	0.0179	8	c.352 others(27): Show c.3529+5315_3529+5322dupGTGTGTGT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	19/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196269496	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp2 HG02976.hp1 others(1): Show HG01361.hp1 HG01361.hp2 HG02976.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0016 others(1): Show a0001c0001 a0001c0002 a0001c0016 a0001c0019	a0001c0001t0002 a0001c0002t0024 a0001c0016t0029 others(1): Show a0001c0001t0002 a0001c0002t0024 a0001c0016t0029 a0001c0019t0001	a0001c0001t0002g0075 a0001c0002t0024g0085 a0001c0016t0029g0099 others(1): Show a0001c0001t0002g0075 a0001c0002t0024g0085 a0001c0016t0029g0099 a0001c0019t0001g0103	4	112	0.0357	8	c.333 others(27): Show c.3335+1689_3335+1696dupTTTTTTTT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	17/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196367854	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01884.hp2 HG02717.hp2 others(3): Show HG01361.hp2 HG01884.hp2 HG02717.hp2 HG03579.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0011 others(1): Show a0001c0002 a0001c0007 a0001c0011 a0001c0021	a0001c0002t0003 a0001c0002t0024 a0001c0007t0002 others(3): Show a0001c0002t0003 a0001c0002t0024 a0001c0007t0002 a0001c0011t0002 a0001c0011t0003 a0001c0021t0030	a0001c0002t0003g0106 a0001c0002t0024g0085 a0001c0007t0002g0101 others(3): Show a0001c0002t0003g0106 a0001c0002t0024g0085 a0001c0007t0002g0101 a0001c0011t0002g0027 a0001c0011t0003g0001 a0001c0021t0030g0002	6	112	0.0536	8	c.293 others(27): Show c.293-24098_293-24091dupCACACACA	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	2/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196423684	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01884.hp1 NA20300.hp1 HG00642.hp1 HG01884.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0020 a0001c0001 a0001c0002 a0001c0020	a0001c0001t0002 a0001c0002t0001 a0001c0020t0016 a0001c0001t0002 a0001c0002t0001 a0001c0020t0016	a0001c0001t0002g0075 a0001c0002t0001g0051 a0001c0020t0016g0037 a0001c0001t0002g0075 a0001c0002t0001g0051 a0001c0020t0016g0037	3	112	0.0268	8	c.292 others(25): Show c.292+9440_292+9447dupCACACACA	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	2/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196441381	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03098.hp2 HG06807.hp1 others(1): Show HG01496.hp1 HG03098.hp2 HG06807.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0021 a0001c0023 a0001c0001 a0001c0021 a0001c0023	a0001c0001t0006 a0001c0001t0009 a0001c0021t0030 others(1): Show a0001c0001t0006 a0001c0001t0009 a0001c0021t0030 a0001c0023t0004	a0001c0001t0006g0014 a0001c0001t0009g0015 a0001c0021t0030g0002 others(1): Show a0001c0001t0006g0014 a0001c0001t0009g0015 a0001c0021t0030g0002 a0001c0023t0004g0016	4	112	0.0357	8	c.-35 others(25): Show c.-35-7931_-35-7924dupGTGTGTGT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196469114	T T	TGTGTGTG others(1): Show TGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA20752.hp1 HG02258.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0014 a0001c0003t0022 a0001c0001t0014 a0001c0003t0022	a0001c0001t0014g0005 a0001c0003t0022g0100 a0001c0001t0014g0005 a0001c0003t0022g0100	2	112	0.0179	8	c.-35 others(27): Show c.-35-35657_-35-35656insGCACACAC	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196469122	T T	TGTGTGTG others(1): Show TGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03225.hp1 HG01884.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0020 a0001c0002 a0001c0020	a0001c0002t0032 a0001c0020t0016 a0001c0002t0032 a0001c0020t0016	a0001c0002t0032g0090 a0001c0020t0016g0037 a0001c0002t0032g0090 a0001c0020t0016g0037	2	112	0.0179	8	c.-35 others(27): Show c.-35-35665_-35-35664insGCACACAC	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196575080	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp2 HG03130.hp2 others(1): Show HG02723.hp1 HG02970.hp2 HG03130.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0017 a0001c0001t0023 others(1): Show a0001c0001t0004 a0001c0001t0017 a0001c0001t0023 a0001c0001t0028	a0001c0001t0004g0110 a0001c0001t0017g0111 a0001c0001t0023g0109 others(1): Show a0001c0001t0004g0110 a0001c0001t0017g0111 a0001c0001t0023g0109 a0001c0001t0028g0112	4	112	0.0357	8	c.-36 others(27): Show c.-36+18420_-36+18427dupTTTTTTTT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28			chr2	TogoVar
HEG1_chr3_124960710_125060997	124978802	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00544.hp2 others(111): Show HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01361.hp1 HG01891.hp1 HG01928.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02970.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03834.hp1 HG04115.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18982.hp1 NA18983.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19062.hp2 NA19063.hp2 NA19067.hp1 NA19068.hp2 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19082.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0021 a0023 a0024 a0030 a0032 a0035 a0036 a0038 a0053 a0054 a0058 a0059	a0001c0001 a0001c0002 a0001c0020 others(38): Show a0001c0001 a0001c0002 a0001c0020 a0001c0085 a0002c0003 a0002c0014 a0002c0049 a0002c0071 a0003c0004 a0003c0068 a0004c0005 a0004c0028 a0004c0081 a0004c0082 a0005c0007 a0006c0006 a0007c0011 a0008c0013 a0008c0060 a0010c0016 a0010c0056 a0011c0008 a0012c0041 a0013c0040 a0013c0042 a0014c0019 a0015c0017 a0016c0029 a0016c0052 a0021c0096 a0023c0021 a0024c0031 a0030c0058 a0032c0055 a0035c0065 a0036c0064 a0038c0084 a0053c0093 a0054c0091 a0058c0062 a0059c0057	a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 others(80): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0018 a0001c0001t0044 a0001c0001t0045 a0001c0001t0061 a0001c0001t0098 a0001c0001t0099 a0001c0001t0127 a0001c0002t0001 a0001c0002t0032 a0001c0002t0050 a0001c0002t0052 a0001c0002t0105 a0001c0020t0012 a0001c0085t0132 a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 a0002c0003t0082 a0002c0003t0089 a0002c0014t0006 a0002c0049t0087 a0002c0071t0083 a0003c0004t0002 a0003c0004t0003 a0003c0004t0009 a0003c0004t0014 a0003c0004t0021 a0003c0004t0039 a0003c0004t0081 a0003c0068t0084 a0004c0005t0004 a0004c0005t0009 a0004c0005t0011 a0004c0005t0012 a0004c0005t0042 a0004c0028t0020 a0004c0081t0116 a0004c0082t0069 a0005c0007t0123 a0006c0006t0002 a0006c0006t0003 a0006c0006t0009 a0006c0006t0019 a0006c0006t0022 a0006c0006t0054 a0007c0011t0086 a0008c0013t0004 a0008c0013t0006 a0008c0013t0014 a0008c0013t0058 a0008c0013t0124 a0008c0060t0139 a0010c0016t0141 a0010c0056t0143 a0011c0008t0027 a0011c0008t0034 a0012c0041t0035 a0013c0040t0028 a0013c0042t0004 a0013c0042t0134 a0014c0019t0052 a0014c0019t0114 a0015c0017t0028 a0015c0017t0045 a0015c0017t0096 a0016c0029t0020 a0016c0052t0020 a0021c0096t0006 a0023c0021t0006 a0024c0031t0012 a0024c0031t0043 a0030c0058t0057 a0032c0055t0002 a0035c0065t0066 a0036c0064t0067 a0038c0084t0019 a0053c0093t0014 a0054c0091t0122 a0058c0062t0014 a0059c0057t0128	a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0277 others(106): Show a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0279 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0006g0282 a0001c0001t0006g0283 a0001c0001t0008g0244 a0001c0001t0018g0253 a0001c0001t0044g0160 a0001c0001t0045g0128 a0001c0001t0061g0290 a0001c0001t0098g0188 a0001c0001t0099g0140 a0001c0001t0127g0301 a0001c0002t0001g0107 a0001c0002t0032g0201 a0001c0002t0050g0198 a0001c0002t0052g0135 a0001c0002t0105g0139 a0001c0020t0012g0016 a0001c0085t0132g0289 a0002c0003t0002g0156 a0002c0003t0003g0003 a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0099 a0002c0003t0003g0105 a0002c0003t0003g0106 a0002c0003t0003g0126 a0002c0003t0003g0173 a0002c0003t0006g0286 a0002c0003t0082g0184 a0002c0003t0089g0125 a0002c0014t0006g0258 a0002c0049t0087g0028 a0002c0071t0083g0185 a0003c0004t0002g0001 a0003c0004t0002g0166 a0003c0004t0002g0167 a0003c0004t0002g0169 a0003c0004t0002g0170 a0003c0004t0002g0171 a0003c0004t0003g0104 a0003c0004t0009g0049 a0003c0004t0009g0195 a0003c0004t0014g0285 a0003c0004t0021g0168 a0003c0004t0039g0053 a0003c0004t0081g0176 a0003c0068t0084g0196 a0004c0005t0004g0278 a0004c0005t0009g0077 a0004c0005t0011g0197 a0004c0005t0012g0112 a0004c0005t0012g0157 a0004c0005t0042g0158 a0004c0028t0020g0025 a0004c0081t0116g0246 a0004c0082t0069g0190 a0005c0007t0123g0351 a0006c0006t0002g0098 a0006c0006t0002g0108 a0006c0006t0002g0178 a0006c0006t0003g0109 a0006c0006t0003g0111 a0006c0006t0009g0042 a0006c0006t0009g0141 a0006c0006t0019g0110 a0006c0006t0022g0088 a0006c0006t0054g0249 a0007c0011t0086g0080 a0008c0013t0004g0212 a0008c0013t0006g0229 a0008c0013t0014g0213 a0008c0013t0058g0230 a0008c0013t0124g0234 a0008c0060t0139g0218 a0010c0016t0141g0224 a0010c0056t0143g0210 a0011c0008t0027g0236 a0011c0008t0034g0235 a0012c0041t0035g0310 a0012c0041t0035g0312 a0013c0040t0028g0336 a0013c0042t0004g0349 a0013c0042t0134g0345 a0014c0019t0052g0208 a0014c0019t0114g0205 a0015c0017t0028g0284 a0015c0017t0045g0131 a0015c0017t0096g0048 a0016c0029t0020g0034 a0016c0052t0020g0041 a0021c0096t0006g0343 a0023c0021t0006g0216 a0023c0021t0006g0217 a0024c0031t0012g0032 a0024c0031t0043g0038 a0030c0058t0057g0220 a0032c0055t0002g0040 a0035c0065t0066g0012 a0036c0064t0067g0009 a0038c0084t0019g0085 a0053c0093t0014g0327 a0054c0091t0122g0311 a0058c0062t0014g0214 a0059c0057t0128g0211	114	362	0.3149	8	c.373 others(25): Show c.3734-864_3734-857dupATTTATTT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	124987374	G G	GCCACACC others(1): Show GCCACACCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG00738.hp2 others(6): Show HG00642.hp1 HG00733.hp2 HG00738.hp2 HG01099.hp1 HG01168.hp1 HG01169.hp1 HG03491.hp1 HG03834.hp2 HG04184.hp2	a0007 a0009 a0011 a0007 a0009 a0011	a0007c0011 a0009c0009 a0011c0008 a0007c0011 a0009c0009 a0011c0008	a0007c0011t0011 a0009c0009t0004 a0011c0008t0004 others(2): Show a0007c0011t0011 a0009c0009t0004 a0011c0008t0004 a0011c0008t0027 a0011c0008t0036	a0007c0011t0011g0060 a0007c0011t0011g0124 a0009c0009t0004g0330 others(6): Show a0007c0011t0011g0060 a0007c0011t0011g0124 a0009c0009t0004g0330 a0011c0008t0004g0238 a0011c0008t0027g0236 a0011c0008t0027g0237 a0011c0008t0036g0240 a0011c0008t0036g0241 a0011c0008t0036g0242	9	362	0.0249	8	c.373 others(27): Show c.3733+3405_3733+3412dupAGGTGTGG	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	125022396	C C	CGAGAGAG others(1): Show CGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03139.hp2 NA18612.hp2 others(5): Show HG01255.hp1 HG03139.hp2 NA18612.hp2 NA18957.hp2 NA18960.hp2 NA18989.hp2 NA19010.hp1 NA19076.hp2	a0001 a0009 a0043 others(1): Show a0001 a0009 a0043 a0056	a0001c0001 a0009c0009 a0043c0075 others(1): Show a0001c0001 a0009c0009 a0043c0075 a0056c0092	a0001c0001t0004 a0009c0009t0018 a0043c0075t0076 others(1): Show a0001c0001t0004 a0009c0009t0018 a0043c0075t0076 a0056c0092t0133	a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0279 others(5): Show a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0279 a0001c0001t0004g0295 a0001c0001t0004g0296 a0009c0009t0018g0339 a0043c0075t0076g0181 a0056c0092t0133g0316	8	362	0.0221	8	c.914 others(25): Show c.914-1274_914-1267dupTCTCTCTC	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	3/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	125036209	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02155.hp1 HG02523.hp2 others(3): Show HG00733.hp1 HG02155.hp1 HG02523.hp2 HG03669.hp2 HG04184.hp1 NA19000.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0006 a0001c0002 a0006c0006	a0001c0002t0001 a0001c0002t0016 a0006c0006t0014 others(1): Show a0001c0002t0001 a0001c0002t0016 a0006c0006t0014 a0006c0006t0118	a0001c0002t0001g0091 a0001c0002t0001g0142 a0001c0002t0001g0143 others(3): Show a0001c0002t0001g0091 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0016g0046 a0006c0006t0014g0270 a0006c0006t0118g0297	6	362	0.0166	8	c.317 others(25): Show c.317-6729_317-6722dupTTTTTTTT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	1/16			chr3	TogoVar
HELQ_chr4_83402346_83460823	83405477	A A	AGTGTGTG others(1): Show AGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01952.hp1 HG02055.hp1 others(10): Show HG01884.hp2 HG01952.hp1 HG02055.hp1 HG02622.hp2 HG02723.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG03209.hp2 HG03516.hp2 NA18988.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0006 a0001c0019 others(3): Show a0001c0001 a0001c0006 a0001c0019 a0003c0003 a0003c0015 a0004c0005	a0001c0001t0001 a0001c0006t0001 a0001c0019t0001 others(3): Show a0001c0001t0001 a0001c0006t0001 a0001c0019t0001 a0003c0003t0002 a0003c0015t0001 a0004c0005t0001	a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0203 others(10): Show a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0203 a0001c0001t0001g0212 a0001c0006t0001g0022 a0001c0019t0001g0157 a0003c0003t0002g0011 a0003c0003t0002g0246 a0003c0015t0001g0103 a0004c0005t0001g0095 a0004c0005t0001g0096 a0004c0005t0001g0099 a0004c0005t0001g0104	13	316	0.0411	8	c.19 others(19): Show c.1975_*1976insACACACAC	HELQ	ENSG00000163312.11	transcript	ENST00000295488.8	protein_coding		1868		chr4	TogoVar
HELQ_chr4_83402346_83460823	83438748	G G	GAAAAAAA others(1): Show GAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02258.hp1 HG02486.hp2 others(15): Show HG01109.hp1 HG02258.hp1 HG02486.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0004 a0001c0020 a0003c0003 others(2): Show a0001c0004 a0001c0020 a0003c0003 a0004c0005 a0006c0008	a0001c0004t0001 a0001c0020t0001 a0003c0003t0002 others(2): Show a0001c0004t0001 a0001c0020t0001 a0003c0003t0002 a0004c0005t0001 a0006c0008t0001	a0001c0004t0001g0021 a0001c0004t0001g0115 a0001c0004t0001g0118 others(14): Show a0001c0004t0001g0021 a0001c0004t0001g0115 a0001c0004t0001g0118 a0001c0004t0001g0120 a0001c0004t0001g0121 a0001c0020t0001g0123 a0003c0003t0002g0236 a0003c0003t0002g0237 a0003c0003t0002g0238 a0003c0003t0002g0239 a0003c0003t0002g0242 a0003c0003t0002g0254 a0004c0005t0001g0102 a0004c0005t0001g0104 a0006c0008t0001g0117 a0006c0008t0001g0119 a0006c0008t0001g0124	18	316	0.0570	8	c.180 others(27): Show c.1808+1107_1808+1114dupTTTTTTTT	HELQ	ENSG00000163312.11	transcript	ENST00000295488.8	protein_coding	8/17			chr4	TogoVar
HELT_chr4_185013490_185025953	185023029	T T	TTCTCTCT others(1): Show TTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01981.hp1 HG02559.hp1 HG00544.hp2 HG01981.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	454	0.0066	8	c.22 others(19): Show c.2257_*2258insTCTCTCTC	HELT	ENSG00000187821.9	transcript	ENST00000515777.6	protein_coding		2077		chr4	TogoVar
HELZ_chr17_67065444_67250196	67086631	A A	AATATAAA others(1): Show AATATAAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp2 HG02965.hp2 others(1): Show HG02257.hp2 HG02572.hp2 HG02965.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0005 a0001c0001t0004 a0002c0002t0005	a0001c0001t0004g0257 a0001c0001t0004g0268 a0002c0002t0005g0076 others(1): Show a0001c0001t0004g0257 a0001c0001t0004g0268 a0002c0002t0005g0076 a0002c0002t0005g0077	4	274	0.0146	8	c.549 others(25): Show c.5494+197_5494+198insATTTATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	32/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67086631	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01358.hp1 HG01934.hp1 others(9): Show HG01243.hp1 HG01358.hp1 HG01934.hp1 HG02135.hp1 HG02559.hp1 HG03041.hp2 NA18942.hp2 NA18975.hp2 NA19005.hp2 NA19010.hp2 NA19081.hp1 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0005	a0001c0001t0021 a0001c0003t0002 a0001c0003t0009 others(2): Show a0001c0001t0021 a0001c0003t0002 a0001c0003t0009 a0002c0002t0003 a0004c0005t0012	a0001c0001t0021g0092 a0001c0003t0002g0094 a0001c0003t0002g0101 others(9): Show a0001c0001t0021g0092 a0001c0003t0002g0094 a0001c0003t0002g0101 a0001c0003t0002g0104 a0001c0003t0002g0115 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0009g0152 a0002c0002t0003g0023 a0002c0002t0003g0058 a0002c0002t0003g0062 a0004c0005t0012g0072	12	274	0.0438	8	c.549 others(25): Show c.5494+190_5494+197dupATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	32/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67119993	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01069.hp2 HG02818.hp2 others(5): Show HG00408.hp2 HG01069.hp2 HG02818.hp2 HG03927.hp2 HG04184.hp1 HG04204.hp1 NA18965.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0049 a0001c0001t0055	a0001c0001t0001g0172 a0001c0001t0001g0192 a0001c0001t0001g0203 others(5): Show a0001c0001t0001g0172 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0001t0006g0202 a0001c0001t0006g0229 a0001c0001t0007g0159 a0001c0001t0049g0091 a0001c0001t0055g0167	8	274	0.0292	8	c.383 others(25): Show c.3838+404_3838+411dupAAAAAAAA	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	27/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67123815	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00558.hp1 others(87): Show HG00280.hp1 HG00408.hp2 HG00558.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01192.hp2 HG01256.hp2 HG01346.hp1 HG01433.hp2 HG01515.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp2 HG02109.hp1 HG02135.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02647.hp2 HG02735.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp2 HG03540.hp2 HG03654.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18970.hp1 NA18971.hp2 NA18975.hp1 NA18980.hp2 NA18983.hp1 NA18989.hp2 NA18994.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp2 NA19054.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19079.hp1 NA19081.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0013	a0001c0001 a0001c0012 a0001c0013 others(3): Show a0001c0001 a0001c0012 a0001c0013 a0002c0002 a0010c0018 a0013c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0029 a0001c0001t0036 a0001c0001t0044 a0001c0001t0049 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0012t0001 a0001c0013t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0047 a0010c0018t0001 a0013c0014t0006	a0001c0001t0001g0088 a0001c0001t0001g0168 a0001c0001t0001g0169 others(87): Show a0001c0001t0001g0088 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0002g0217 a0001c0001t0004g0254 a0001c0001t0004g0256 a0001c0001t0004g0262 a0001c0001t0004g0264 a0001c0001t0006g0202 a0001c0001t0006g0229 a0001c0001t0006g0245 a0001c0001t0006g0247 a0001c0001t0006g0249 a0001c0001t0006g0250 a0001c0001t0006g0251 a0001c0001t0007g0161 a0001c0001t0007g0162 a0001c0001t0007g0164 a0001c0001t0007g0165 a0001c0001t0007g0166 a0001c0001t0008g0171 a0001c0001t0008g0178 a0001c0001t0008g0188 a0001c0001t0008g0210 a0001c0001t0008g0218 a0001c0001t0008g0246 a0001c0001t0010g0174 a0001c0001t0010g0199 a0001c0001t0010g0200 a0001c0001t0010g0201 a0001c0001t0010g0233 a0001c0001t0011g0189 a0001c0001t0011g0208 a0001c0001t0011g0232 a0001c0001t0011g0248 a0001c0001t0015g0180 a0001c0001t0015g0212 a0001c0001t0029g0214 a0001c0001t0029g0219 a0001c0001t0036g0216 a0001c0001t0044g0272 a0001c0001t0049g0091 a0001c0001t0054g0193 a0001c0001t0055g0167 a0001c0001t0056g0146 a0001c0001t0057g0221 a0001c0001t0058g0239 a0001c0001t0059g0226 a0001c0001t0060g0228 a0001c0001t0061g0163 a0001c0012t0001g0194 a0001c0013t0001g0179 a0002c0002t0003g0055 a0002c0002t0003g0068 a0002c0002t0005g0077 a0002c0002t0005g0080 a0002c0002t0005g0081 a0002c0002t0047g0082 a0010c0018t0001g0204 a0013c0014t0006g0215	90	274	0.3285	8	c.343 others(25): Show c.3439+140_3439+147dupCACACACA	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	25/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67125343	T T	TATATATA others(1): Show TATATATAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01109.hp1 NA18963.hp2 others(5): Show HG00609.hp1 HG01109.hp1 NA18963.hp2 NA18980.hp1 NA19010.hp2 NA19054.hp2 NA19066.hp1 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0014 a0002c0002t0003 a0002c0002t0014	a0002c0002t0003g0025 a0002c0002t0003g0037 a0002c0002t0003g0047 others(5): Show a0002c0002t0003g0025 a0002c0002t0003g0037 a0002c0002t0003g0047 a0002c0002t0003g0055 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0014g0017 a0002c0002t0014g0021	8	274	0.0292	8	c.338 others(27): Show c.3388-1330_3388-1329insGTATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	24/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67132218	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01071.hp2 others(12): Show HG00639.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp2 HG02258.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02976.hp2 HG03209.hp2 HG03453.hp2 NA18906.hp1 NA19240.hp1 NA20905.hp2 NA21309.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0017 a0001c0001 a0012c0017	a0001c0001t0004 a0001c0001t0018 a0001c0001t0019 others(5): Show a0001c0001t0004 a0001c0001t0018 a0001c0001t0019 a0001c0001t0039 a0001c0001t0040 a0001c0001t0045 a0001c0001t0053 a0012c0017t0026	a0001c0001t0004g0256 a0001c0001t0004g0261 a0001c0001t0004g0262 others(12): Show a0001c0001t0004g0256 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0018g0004 a0001c0001t0019g0007 a0001c0001t0039g0003 a0001c0001t0040g0259 a0001c0001t0045g0010 a0001c0001t0053g0009 a0012c0017t0026g0008	15	274	0.0547	8	c.318 others(27): Show c.3183-3371_3183-3364dupCACACACA	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	23/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67184820	C C	CAAATAAA others(1): Show CAAATAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(44): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG01070.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01361.hp2 HG01993.hp2 HG02148.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG03225.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18941.hp1 NA18954.hp1 NA18963.hp2 NA18964.hp1 NA18989.hp1 NA18994.hp2 NA19002.hp1 NA19010.hp2 NA19054.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19079.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0008 a0009	a0001c0001 a0002c0002 a0007c0008 others(2): Show a0001c0001 a0002c0002 a0007c0008 a0008c0010 a0009c0019	a0001c0001t0049 a0002c0002t0003 a0002c0002t0014 others(10): Show a0001c0001t0049 a0002c0002t0003 a0002c0002t0014 a0002c0002t0023 a0002c0002t0025 a0002c0002t0026 a0002c0002t0027 a0002c0002t0031 a0002c0002t0048 a0002c0002t0050 a0007c0008t0003 a0008c0010t0023 a0009c0019t0012	a0001c0001t0049g0091 a0002c0002t0003g0013 a0002c0002t0003g0023 others(44): Show a0001c0001t0049g0091 a0002c0002t0003g0013 a0002c0002t0003g0023 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0040 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0045 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0069 a0002c0002t0003g0071 a0002c0002t0014g0017 a0002c0002t0014g0021 a0002c0002t0023g0046 a0002c0002t0025g0024 a0002c0002t0025g0030 a0002c0002t0026g0020 a0002c0002t0027g0054 a0002c0002t0031g0065 a0002c0002t0048g0070 a0002c0002t0050g0044 a0007c0008t0003g0038 a0008c0010t0023g0028 a0009c0019t0012g0041	47	274	0.1715	8	c.116 others(27): Show c.1162+3491_1162+3498dupATTTATTT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	12/32			chr17	TogoVar
HELZ_chr17_67065444_67250196	67196570	T T	TTGGATGG others(1): Show TTGGATGGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG02922.hp2 others(1): Show HG01243.hp1 HG02451.hp2 HG02922.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0021 a0001c0006t0022 a0001c0001t0021 a0001c0006t0022	a0001c0001t0021g0092 a0001c0001t0021g0093 a0001c0006t0022g0014 others(1): Show a0001c0001t0021g0092 a0001c0001t0021g0093 a0001c0006t0022g0014 a0001c0006t0022g0015	4	274	0.0146	8	c.430 others(25): Show c.430-1108_430-1101dupTCCATCCA	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	7/32			chr17	TogoVar
HEMK1_chr3_50564522_50601166	50591663	C C	CGTGTGTG others(1): Show CGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01169.hp1 HG02055.hp1 HG02258.hp2 others(4): Show HG01169.hp1 HG02055.hp1 HG02258.hp2 HG02280.hp2 HG02738.hp2 HG03195.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0024 a0001c0001t0089 a0001c0001t0021 a0001c0001t0024 a0001c0001t0089	a0001c0001t0021g0007 a0001c0001t0024g0001 a0001c0001t0089g0043 a0001c0001t0021g0007 a0001c0001t0024g0001 a0001c0001t0089g0043	7	320	0.0219	8	c.11 others(21): Show c.11273_*11280dupGTGTGTGT	HEMK1	ENSG00000114735.10	transcript	ENST00000232854.9	protein_coding	11/11	11281	INFO_REALIGN_3_PRIME	chr3	TogoVar
HENMT1_chr1_108643295_108666093	108655848	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01168.hp1 HG01169.hp2 others(10): Show HG00280.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01975.hp1 HG02280.hp2 HG02293.hp2 HG02615.hp1 HG02965.hp1 HG03130.hp1 HG03540.hp2 HG03579.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0049 a0001c0001t0001g0056 others(5): Show a0001c0001t0001g0029 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0193	13	442	0.0294	8	c.151 others(23): Show c.151-158_151-151dupGTGTGTGT	HENMT1	ENSG00000162639.16	transcript	ENST00000651461.1	protein_coding	3/7			chr1	TogoVar
HEPACAM2_chr7_93183534_93231469	93228885	G G	GTGTGTGT others(1): Show GTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00597.hp2 others(36): Show HG00408.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG01069.hp2 HG01106.hp2 HG01496.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp2 HG02165.hp2 HG04199.hp1 NA18612.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp2 NA18948.hp1 NA18950.hp1 NA18959.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18972.hp1 NA18975.hp2 NA18979.hp1 NA18981.hp1 NA18987.hp2 NA18988.hp1 NA18992.hp1 NA18998.hp1 NA18998.hp2 NA19006.hp2 NA19011.hp2 NA19054.hp2 NA19070.hp1 NA19081.hp2 NA19082.hp1 NA19088.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0004 a0001c0001 a0001c0006 a0004c0004	a0001c0001t0001 a0001c0006t0001 a0004c0004t0001 a0001c0001t0001 a0001c0006t0001 a0004c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0027 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0199 a0001c0006t0001g0099 a0004c0004t0001g0030	39	368	0.1060	8	c.-24 others(19): Show c.-2440_-2439insTACACACA	HEPACAM2	ENSG00000188175.10	transcript	ENST00000394468.7	protein_coding		2417		chr7	TogoVar
HEPHL1_chr11_94016354_94119208	94031331	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01516.hp2 HG01517.hp2 others(2): Show HG01255.hp1 HG01516.hp2 HG01517.hp2 HG02622.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013	a0001c0001t0002g0245 a0001c0001t0003g0162 a0001c0001t0003g0277 others(2): Show a0001c0001t0002g0245 a0001c0001t0003g0162 a0001c0001t0003g0277 a0001c0001t0013g0246 a0001c0001t0013g0247	5	368	0.0136	8	c.170 others(25): Show c.170+9825_170+9832dupCACACACA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94046091	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp1 HG00733.hp2 others(18): Show HG00544.hp1 HG00673.hp1 HG00733.hp2 HG01175.hp2 HG01346.hp1 HG01346.hp2 HG02148.hp1 HG02622.hp2 HG02630.hp2 HG03492.hp2 HG03831.hp1 HG04228.hp2 NA18940.hp1 NA18953.hp1 NA18969.hp2 NA18973.hp2 NA18979.hp2 NA18983.hp2 NA18997.hp1 NA19062.hp1 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0016 a0002c0002t0001	a0001c0001t0001g0170 a0001c0001t0001g0222 a0001c0001t0002g0163 others(18): Show a0001c0001t0001g0170 a0001c0001t0001g0222 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0173 a0001c0001t0002g0197 a0001c0001t0002g0221 a0001c0001t0002g0225 a0001c0001t0002g0239 a0001c0001t0002g0279 a0001c0001t0003g0073 a0001c0001t0003g0083 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0003g0177 a0001c0001t0003g0193 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0011g0192 a0001c0001t0016g0235 a0002c0002t0001g0013	21	368	0.0571	8	c.415 others(23): Show c.415+188_415+195dupTTTTTTTT	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94084336	T T	TTAAATAA others(1): Show TTAAATAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG03516.hp1 others(3): Show HG00642.hp1 HG00733.hp2 HG03516.hp1 HG03927.hp2 NA18974.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0322 a0001c0001t0002g0224 a0001c0001t0002g0225 others(3): Show a0001c0001t0001g0322 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0003g0050 a0001c0001t0003g0188 a0001c0001t0003g0251	6	368	0.0163	8	c.186 others(27): Show c.1868-1606_1868-1599dupAATAAATA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94093971	G G	GATATATA others(1): Show GATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG01884.hp1 others(4): Show HG00280.hp1 HG00280.hp2 HG01884.hp1 HG04228.hp1 NA18942.hp1 NA19060.hp1 NA20300.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0024 a0001c0001 a0016c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0016c0024t0002	a0001c0001t0001g0137 a0001c0001t0002g0204 a0001c0001t0005g0045 others(4): Show a0001c0001t0001g0137 a0001c0001t0002g0204 a0001c0001t0005g0045 a0001c0001t0005g0244 a0001c0001t0007g0130 a0001c0001t0007g0290 a0016c0024t0002g0142	7	368	0.0190	8	c.243 others(25): Show c.2434+367_2434+374dupTATATATA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94115572	C C	CATATATA others(1): Show CATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG00738.hp1 others(24): Show HG00408.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG01255.hp2 HG01516.hp1 HG01993.hp1 HG02080.hp1 HG02129.hp2 HG02280.hp2 HG02486.hp1 HG02630.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG06807.hp1 NA18906.hp1 NA18969.hp2 NA18979.hp2 NA18992.hp1 NA18997.hp1 NA18997.hp2 NA19064.hp1 NA19067.hp1 NA19070.hp2 NA19077.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0004c0004t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0140 others(24): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0140 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0170 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0261 a0001c0001t0001g0309 a0001c0001t0001g0313 a0001c0001t0001g0322 a0001c0001t0001g0332 a0001c0001t0002g0031 a0001c0001t0002g0097 a0001c0001t0002g0224 a0001c0001t0002g0239 a0001c0001t0002g0245 a0001c0001t0002g0279 a0001c0001t0003g0188 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0252 a0001c0001t0003g0256 a0001c0001t0006g0032 a0004c0004t0001g0360 a0004c0004t0001g0362	27	368	0.0734	8	c.36 others(19): Show c.3678_*3679insATATATAT	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding		1365		chr11	TogoVar
HEPH_chrX_66159247_66272389	66175746	A A	AGTATGTA others(1): Show AGTATGTAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG00735.hp1 others(72): Show HG00099.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01081.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03834.hp2 HG04199.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0001c0003 a0001c0010 others(2): Show a0001c0002 a0001c0003 a0001c0010 a0002c0004 a0006c0013	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0010t0001 a0002c0004t0002 a0006c0013t0002	a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 others(71): Show a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0042 a0001c0002t0001g0045 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0032 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0056 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0003g0031 a0001c0002t0003g0033 a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0080 a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0012 a0001c0003t0002g0016 a0001c0003t0002g0081 a0001c0010t0001g0079 a0002c0004t0002g0013 a0002c0004t0002g0014 a0002c0004t0002g0015 a0006c0013t0002g0076	75	218	0.3440	8	c.625 others(25): Show c.625+1954_625+1961dupGTATGTAT	HEPH	ENSG00000089472.18	transcript	ENST00000343002.7	protein_coding	4/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
HEPH_chrX_66159247_66272389	66200241	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01081.hp2 others(40): Show HG00099.hp2 HG00741.hp1 HG01081.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01358.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02723.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03834.hp2 HG04199.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001	a0001c0002t0001g0006 a0001c0002t0001g0045 a0001c0002t0001g0055 others(40): Show a0001c0002t0001g0006 a0001c0002t0001g0045 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0002g0032 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0040 a0001c0002t0002g0043 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0056 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0003g0031 a0001c0002t0003g0033 a0001c0003t0001g0030	43	218	0.1973	8	c.186 others(25): Show c.1865-274_1865-267dupGTGTGTGT	HEPH	ENSG00000089472.18	transcript	ENST00000343002.7	protein_coding	11/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
HEPH_chrX_66159247_66272389	66202912	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02922.hp1 HG03225.hp1 others(1): Show HG02622.hp2 HG02922.hp1 HG03225.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0052 a0001c0002t0002g0075 a0001c0003t0001g0028 others(1): Show a0001c0002t0002g0052 a0001c0002t0002g0075 a0001c0003t0001g0028 a0001c0003t0001g0029	4	218	0.0184	8	c.207 others(25): Show c.2078-432_2078-425dupTATATATA	HEPH	ENSG00000089472.18	transcript	ENST00000343002.7	protein_coding	12/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
HEPH_chrX_66159247_66272389	66206339	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02132.hp1 HG02273.hp1 others(4): Show HG02004.hp2 HG02132.hp1 HG02273.hp1 HG03942.hp1 NA18940.hp1 NA19089.hp1 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0013 a0001c0001 a0001c0002 a0006c0013	a0001c0001t0001 a0001c0002t0002 a0006c0013t0002 a0001c0001t0001 a0001c0002t0002 a0006c0013t0002	a0001c0001t0001g0093 a0001c0001t0001g0111 a0001c0001t0001g0157 others(4): Show a0001c0001t0001g0093 a0001c0001t0001g0111 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0205 a0001c0002t0002g0065 a0006c0013t0002g0076	7	218	0.0321	8	c.229 others(25): Show c.2292-820_2292-813dupTTTTTTTT	HEPH	ENSG00000089472.18	transcript	ENST00000343002.7	protein_coding	13/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
HERC1_chr15_63603618_63838948	63718121	C C	CACACACA others(1): Show CACACACAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(23): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG01169.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG02055.hp2 HG02258.hp1 HG02683.hp1 HG02723.hp1 HG02735.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03516.hp2 HG03540.hp1 NA18961.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA20129.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0001c0008 a0001c0011 others(6): Show a0001c0001 a0001c0008 a0001c0011 a0002c0003 a0002c0017 a0002c0018 a0002c0028 a0004c0007 a0008c0036	a0001c0001t0001 a0001c0001t0004 a0001c0008t0001 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0008t0001 a0001c0011t0001 a0002c0003t0002 a0002c0017t0001 a0002c0018t0002 a0002c0028t0002 a0004c0007t0001 a0008c0036t0002	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0122 others(23): Show a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0122 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0167 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0004g0136 a0001c0008t0001g0146 a0001c0011t0001g0133 a0002c0003t0002g0028 a0002c0017t0001g0103 a0002c0017t0001g0104 a0002c0018t0002g0067 a0002c0018t0002g0068 a0002c0028t0002g0016 a0004c0007t0001g0009 a0004c0007t0001g0011 a0004c0007t0001g0012 a0004c0007t0001g0175 a0008c0036t0002g0098	26	216	0.1204	8	c.397 others(25): Show c.3978+452_3978+453insATGTGTGT	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	21/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63737460	T T	TATATATA others(1): Show TATATATAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18980.hp2 HG00408.hp1 NA18980.hp2	a0007 a0007	a0007c0037 a0007c0038 a0007c0037 a0007c0038	a0007c0037t0001 a0007c0038t0001 a0007c0037t0001 a0007c0038t0001	a0007c0037t0001g0100 a0007c0038t0001g0099 a0007c0037t0001g0100 a0007c0038t0001g0099	2	216	0.0093	8	c.252 others(27): Show c.2521-2612_2521-2611insGTATATAT	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	12/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63744110	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01361.hp1 HG01884.hp1 others(15): Show HG01070.hp2 HG01361.hp1 HG01884.hp1 HG01934.hp1 HG02004.hp1 HG02293.hp2 HG02630.hp2 HG02647.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03195.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 NA18954.hp2 NA18961.hp1 NA19240.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0016	a0001c0004 a0002c0010 a0003c0002 others(4): Show a0001c0004 a0002c0010 a0003c0002 a0004c0007 a0004c0014 a0005c0009 a0016c0022	a0001c0004t0001 a0001c0004t0003 a0002c0010t0001 others(5): Show a0001c0004t0001 a0001c0004t0003 a0002c0010t0001 a0003c0002t0001 a0004c0007t0001 a0004c0014t0001 a0005c0009t0001 a0016c0022t0001	a0001c0004t0001g0182 a0001c0004t0001g0183 a0001c0004t0001g0197 others(15): Show a0001c0004t0001g0182 a0001c0004t0001g0183 a0001c0004t0001g0197 a0001c0004t0003g0140 a0002c0010t0001g0199 a0002c0010t0001g0206 a0003c0002t0001g0034 a0003c0002t0001g0041 a0003c0002t0001g0050 a0003c0002t0001g0060 a0003c0002t0001g0085 a0003c0002t0001g0095 a0004c0007t0001g0008 a0004c0007t0001g0010 a0004c0007t0001g0013 a0004c0014t0001g0021 a0005c0009t0001g0029 a0016c0022t0001g0042	18	216	0.0833	8	c.252 others(27): Show c.2520+2800_2520+2807dupCACACACA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	12/77			chr15	TogoVar

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