Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
HCRTR2_chr6_55169515_55287617	55245467	TTTTATAT others(11): Show TTTTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	368	0.0027	-18	c.224 others(35): Show c.224-3170_224-3153delTTATATATATATATATAT		HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
HCRT_chr17_42179060_42190452	42187582	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01256.hp2 HG02109.hp2 others(8): Show HG01192.hp2 HG01256.hp2 HG02109.hp2 NA18943.hp2 NA18947.hp2 NA18989.hp2 NA18994.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	11	378	0.0291	-18	c.-22 others(29): Show c.-2235_-2218delAAAAAAAAAAAAAAAAAA		HCRT	ENSG00000161610.1	transcript	ENST00000293330.1	protein_coding					2131		chr17	TogoVar
HDAC2_chr6_113928028_113976148	113930735	TCTCTCTC others(11): Show TCTCTCTCTCCCTCTCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG03704.hp1 HG01255.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0001 a0001c0001t0006g0066 a0001c0001t0003g0001 a0001c0001t0006g0066	2	402	0.0050	-18	c.10 others(31): Show c.10305_*10322delGGAGAGAGGGAGAGAGAG		HDAC2	ENSG00000196591.12	transcript	ENST00000519065.6	protein_coding					2292		chr6	TogoVar
HDAC4_chr2_239043168_239406020	239221609	GACACACA others(11): Show GACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA20300.hp2 HG03669.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0035 a0001c0001t0031 a0001c0001t0035	a0001c0001t0031g0092 a0001c0001t0035g0090 a0001c0001t0031g0092 a0001c0001t0035g0090	2	242	0.0083	-18	c.94+ others(35): Show c.94+14966_94+14983delGTGTGTGTGTGTGTGTGT		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	3/26						chr2	TogoVar
HDAC4_chr2_239043168_239406020	239224504	GCCTGCAA others(11): Show GCCTGCAAATGTCTGCTCA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG02074.hp2 others(11): Show HG00609.hp1 HG00673.hp1 HG02074.hp2 HG02132.hp2 HG02523.hp1 NA18612.hp1 NA18747.hp2 NA18983.hp1 NA18990.hp1 NA19056.hp1 NA19068.hp1 NA19079.hp2 NA19090.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0012 a0001c0032 a0003c0013	a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 others(9): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 a0001c0001t0037 a0001c0002t0004 a0001c0003t0027 a0001c0003t0034 a0001c0006t0011 a0001c0006t0026 a0001c0012t0028 a0001c0032t0001 a0003c0013t0002	a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0140 others(11): Show a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0140 a0001c0001t0013g0109 a0001c0001t0014g0159 a0001c0001t0037g0053 a0001c0002t0004g0199 a0001c0003t0027g0134 a0001c0003t0034g0007 a0001c0006t0011g0158 a0001c0006t0026g0058 a0001c0012t0028g0133 a0001c0032t0001g0048 a0003c0013t0002g0157	14	242	0.0579	-18	c.94+ others(35): Show c.94+12071_94+12088delTGAGCAGACATTTGCAGG		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	3/26						chr2	TogoVar
HDAC4_chr2_239043168_239406020	239269226	CACATACA others(11): Show CACATACATTCACACATCT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0084 a0001c0001t0060g0084	1	242	0.0041	-18	c.23- others(35): Show c.23-32580_23-32563delAGATGTGTGAATGTATGT		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	2/26						chr2	TogoVar
HDAC4_chr2_239043168_239406020	239269261	CCACACAT others(11): Show CCACACATTCACACACCCA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp2 HG01884.hp2 others(10): Show HG00642.hp2 HG01099.hp2 HG01884.hp2 HG01993.hp2 HG02109.hp2 HG02615.hp2 HG02886.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0024	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0039 a0001c0001t0055 a0001c0001t0061 a0001c0002t0008 a0001c0003t0003 a0001c0003t0065 a0001c0004t0071 a0001c0009t0051 a0001c0024t0069	a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0003g0065 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0003g0065 a0001c0001t0007g0052 a0001c0001t0039g0219 a0001c0001t0055g0077 a0001c0001t0061g0074 a0001c0002t0008g0131 a0001c0003t0003g0068 a0001c0003t0065g0038 a0001c0004t0071g0022 a0001c0009t0051g0020 a0001c0024t0069g0106	13	242	0.0537	-18	c.23- others(35): Show c.23-32615_23-32598delTGGGTGTGTGAATGTGTG		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	2/26						chr2	TogoVar
HDAC7_chr12_47777722_47824903	47810802	AGGTCTCT others(11): Show AGGTCTCTCTCTCTCTCTC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp1 HG03098.hp1 HG02559.hp1 HG02572.hp1 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0019 a0002c0013 a0001c0019 a0002c0013	a0001c0019t0001 a0002c0013t0001 a0002c0013t0002 a0001c0019t0001 a0002c0013t0001 a0002c0013t0002	a0001c0019t0001g0309 a0002c0013t0001g0310 a0002c0013t0002g0311 a0001c0019t0001g0309 a0002c0013t0001g0310 a0002c0013t0002g0311	3	380	0.0079	-18	c.20- others(33): Show c.20-8546_20-8529delGAGAGAGAGAGAGAGACC		HDAC7	ENSG00000061273.18	transcript	ENST00000080059.12	protein_coding	1/25						chr12	TogoVar
HDAC9_chr7_18490749_19007416	18585852	AAGACCCA others(11): Show AAGACCCATTTCATATTTC	A A	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0077 a0001c0001t0005g0077	1	156	0.0064	-18	c.264 others(33): Show c.264+332_264+349delGACCCATTTCATATTTCA		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	3/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18728402	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0113 a0001c0002t0002g0113	1	156	0.0064	-18	c.190 others(35): Show c.1909+673_1909+690delCACACACACACACACACA		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18732882	TGCGTATG others(11): Show TGCGTATGTGTACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0149 a0001c0001t0006g0149	1	156	0.0064	-18	c.190 others(37): Show c.1909+5126_1909+5143delGCGTATGTGTACACACAC		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25						chr7	TogoVar
HDAC9_chr7_18490749_19007416	18773364	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG02683.hp1 others(12): Show HG00639.hp2 HG01081.hp1 HG02683.hp1 HG02896.hp1 HG02970.hp1 HG03041.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 others(10): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0006 a0001c0002t0011 a0001c0002t0012 a0001c0002t0015 a0001c0002t0017 a0001c0002t0042 a0001c0003t0001 a0001c0003t0005 a0001c0004t0009	a0001c0001t0006g0048 a0001c0001t0007g0151 a0001c0001t0008g0070 others(12): Show a0001c0001t0006g0048 a0001c0001t0007g0151 a0001c0001t0008g0070 a0001c0002t0001g0044 a0001c0002t0001g0135 a0001c0002t0006g0138 a0001c0002t0011g0026 a0001c0002t0012g0049 a0001c0002t0015g0001 a0001c0002t0017g0111 a0001c0002t0017g0112 a0001c0002t0042g0019 a0001c0003t0001g0052 a0001c0003t0005g0006 a0001c0004t0009g0131	15	156	0.0962	-18	c.221 others(37): Show c.2214+6239_2214+6256delCACACACACACACACACA		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18799040	GACACACA others(11): Show GACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0131 a0001c0004t0009g0131	1	156	0.0064	-18	c.232 others(37): Show c.2322+5626_2322+5643delCACACACACACACACACA		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	17/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18859811	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02027.hp2 HG02129.hp1 others(4): Show HG00639.hp2 HG02027.hp2 HG02129.hp1 HG03492.hp1 HG03831.hp2 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0033 a0001c0002t0046 a0001c0003t0005	a0001c0001t0001g0073 a0001c0001t0001g0096 a0001c0001t0002g0094 others(4): Show a0001c0001t0001g0073 a0001c0001t0001g0096 a0001c0001t0002g0094 a0001c0001t0004g0089 a0001c0001t0033g0119 a0001c0002t0046g0109 a0001c0003t0005g0006	7	156	0.0449	-18	c.268 others(39): Show c.2685-14636_2685-14619delATATATATATATATATAT		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	21/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18905863	TTTCTTTC others(11): Show TTTCTTTCCTTTCTTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00738.hp1 others(57): Show HG00438.hp1 HG00438.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01109.hp1 HG01169.hp1 HG01255.hp1 HG01361.hp1 HG01361.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG04115.hp2 HG04199.hp2 NA18522.hp2 NA18612.hp2 NA18939.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA19007.hp2 NA19030.hp2 NA19056.hp2 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(37): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0036 a0001c0001t0039 a0001c0001t0048 a0001c0001t0052 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0015 a0001c0002t0017 a0001c0002t0018 a0001c0002t0030 a0001c0002t0049 a0001c0003t0001 a0001c0003t0007 a0001c0003t0013 a0001c0003t0015 a0001c0003t0051 a0001c0003t0053 a0001c0004t0012 a0001c0004t0014 a0001c0004t0040 a0001c0004t0055 a0001c0005t0011 a0001c0007t0002	a0001c0001t0001g0072 a0001c0001t0003g0002 a0001c0001t0003g0110 others(57): Show a0001c0001t0001g0072 a0001c0001t0003g0002 a0001c0001t0003g0110 a0001c0001t0003g0130 a0001c0001t0003g0133 a0001c0001t0004g0064 a0001c0001t0004g0089 a0001c0001t0004g0139 a0001c0001t0005g0077 a0001c0001t0005g0120 a0001c0001t0006g0039 a0001c0001t0007g0041 a0001c0001t0007g0151 a0001c0001t0009g0125 a0001c0001t0010g0103 a0001c0001t0010g0153 a0001c0001t0014g0017 a0001c0001t0023g0100 a0001c0001t0025g0051 a0001c0001t0027g0057 a0001c0001t0029g0068 a0001c0001t0031g0152 a0001c0001t0036g0136 a0001c0001t0039g0129 a0001c0001t0048g0087 a0001c0001t0052g0055 a0001c0002t0001g0044 a0001c0002t0001g0126 a0001c0002t0002g0034 a0001c0002t0002g0086 a0001c0002t0002g0097 a0001c0002t0002g0113 a0001c0002t0003g0063 a0001c0002t0003g0067 a0001c0002t0003g0082 a0001c0002t0003g0116 a0001c0002t0004g0091 a0001c0002t0004g0150 a0001c0002t0005g0092 a0001c0002t0005g0115 a0001c0002t0005g0121 a0001c0002t0015g0001 a0001c0002t0017g0111 a0001c0002t0017g0112 a0001c0002t0018g0021 a0001c0002t0030g0015 a0001c0002t0049g0066 a0001c0003t0001g0022 a0001c0003t0007g0030 a0001c0003t0013g0045 a0001c0003t0015g0004 a0001c0003t0051g0020 a0001c0003t0053g0010 a0001c0004t0012g0023 a0001c0004t0014g0058 a0001c0004t0040g0016 a0001c0004t0055g0144 a0001c0005t0011g0099 a0001c0005t0011g0107 a0001c0007t0002g0081	60	156	0.3846	-18	c.280 others(39): Show c.2804-29921_2804-29904delCCTTTCTTTTCCTTCTTT		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	22/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HDC_chr15_50236947_50270726	50240886	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02886.hp1 HG02965.hp1 others(4): Show HG01243.hp1 HG02886.hp1 HG02965.hp1 HG03139.hp1 NA18522.hp1 NA19081.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0067 others(2): Show a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0067 a0001c0001t0001g0095 a0001c0001t0001g0219	7	418	0.0168	-18	c.13 others(29): Show c.1356_*1373delTTTTTTTTTTTTTTTTTT		HDC	ENSG00000140287.11	transcript	ENST00000267845.8	protein_coding					1060		chr15	TogoVar
HDC_chr15_50236947_50270726	50254738	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp2 HG02622.hp2 others(3): Show HG02145.hp1 HG02257.hp2 HG02622.hp2 HG02886.hp2 HG03209.hp1 HG06807.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0021 a0004c0006t0002g0145 a0004c0006t0002g0233 a0004c0006t0002g0021 a0004c0006t0002g0145 a0004c0006t0002g0233	6	418	0.0144	-18	c.442 others(31): Show c.442-92_442-75delGAGAGAGAGAGAGAGAGA		HDC	ENSG00000140287.11	transcript	ENST00000267845.8	protein_coding	4/11						chr15	TogoVar
HDGFL1_chr6_22564566_22576666	22576522	GATATATA others(11): Show GATATATATATATATATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00733.hp1 HG00733.hp2 others(39): Show HG00408.hp1 HG00733.hp1 HG00733.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp2 HG01261.hp2 HG01952.hp1 HG02004.hp1 HG02258.hp1 HG02451.hp1 HG03669.hp1 HG04199.hp2 HG06807.hp1 NA18612.hp2 NA18940.hp1 NA18940.hp2 NA18946.hp1 NA18955.hp2 NA18957.hp2 NA18964.hp2 NA18965.hp1 NA18972.hp1 NA18984.hp1 NA18987.hp1 NA18987.hp2 NA18994.hp1 NA18998.hp1 NA19001.hp1 NA19004.hp2 NA19011.hp1 NA19011.hp2 NA19065.hp1 NA19066.hp1 NA19072.hp1 NA19078.hp2 NA19080.hp2 NA19083.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0003t0002 a0001c0004t0003 others(3): Show a0001c0001t0001 a0001c0003t0002 a0001c0004t0003 a0002c0002t0001 a0003c0005t0001 a0003c0005t0009	a0001c0001t0001g0000 a0001c0003t0002g0000 a0001c0004t0003g0000 others(3): Show a0001c0001t0001g0000 a0001c0003t0002g0000 a0001c0004t0003g0000 a0002c0002t0001g0000 a0003c0005t0001g0000 a0003c0005t0009g0000	42	432	0.0972	-18	c.61 others(29): Show c.6192_*6209delATATATATATATATATAT		HDGFL1	ENSG00000112273.7	transcript	ENST00000510882.4	protein_coding					4857		chr6	TogoVar
HDGFL3_chr15_83122753_83212823	83145897	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0019 a0001c0001t0023g0019	1	246	0.0041	-18	c.606 others(35): Show c.606+5300_606+5317delAAAAAAAAAAAAAAAAAA		HDGFL3	ENSG00000166503.9	transcript	ENST00000299633.7	protein_coding	5/5						chr15	TogoVar
HDGFL3_chr15_83122753_83212823	83169414	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0019 a0001c0001t0023g0019	1	246	0.0041	-18	c.85- others(33): Show c.85-5357_85-5340delTTTTTTTTTTTTTTTTTT		HDGFL3	ENSG00000166503.9	transcript	ENST00000299633.7	protein_coding	1/5						chr15	TogoVar
HDLBP_chr2_241222291_241320672	241319836	CTCCTGCC others(11): Show CTCCTGCCTCAGCTTCCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0137 a0002c0005t0003g0137	1	354	0.0028	-18	c.-43 others(29): Show c.-4387_-4370delTGGGAAGCTGAGGCAGGA		HDLBP	ENSG00000115677.18	transcript	ENST00000310931.10	protein_coding					4165		chr2	TogoVar
HDX_chrX_84312878_84507453	84354930	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA19043.hp1 HG03209.hp1 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0001 a0001c0001t0001 a0004c0008t0001	a0001c0001t0001g0267 a0004c0008t0001g0245 a0001c0001t0001g0267 a0004c0008t0001g0245	2	269	0.0074	-18	c.145 others(37): Show c.1452+6518_1452+6535delATATATATATATATATAT		HDX	ENSG00000165259.14	transcript	ENST00000373177.3	protein_coding	6/10						chrX	TogoVar
HDX_chrX_84312878_84507453	84385196	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18970.hp1 NA18972.hp2 others(1): Show NA18966.hp1 NA18970.hp1 NA18972.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(1): Show a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104	4	269	0.0149	-18	c.130 others(39): Show c.1306-23602_1306-23585delAAAAAAAAAAAAAAAAAA		HDX	ENSG00000165259.14	transcript	ENST00000373177.3	protein_coding	5/10						chrX	TogoVar
HEATR4_chr14_73473484_73563947	73477049	CATATATA others(11): Show CATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG01069.hp1 others(19): Show HG00621.hp1 HG00621.hp2 HG01069.hp1 HG01071.hp2 HG02027.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG02647.hp2 HG02886.hp2 NA18941.hp2 NA18950.hp1 NA18952.hp1 NA18986.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19065.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0011c0016	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0003t0004 a0011c0016t0004	a0001c0001t0001g0090 a0001c0001t0003g0217 a0001c0001t0003g0219 others(19): Show a0001c0001t0001g0090 a0001c0001t0003g0217 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0002t0001g0059 a0001c0002t0002g0209 a0001c0002t0002g0276 a0001c0002t0002g0280 a0001c0002t0002g0325 a0001c0002t0007g0160 a0001c0002t0007g0161 a0001c0002t0008g0038 a0001c0002t0008g0068 a0001c0003t0004g0211 a0011c0016t0004g0352	22	368	0.0598	-18	c.15 others(29): Show c.1539_*1556delATATATATATATATATAT		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding					1434		chr14	TogoVar
HEATR4_chr14_73473484_73563947	73509810	CCATATAT others(11): Show CCATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02135.hp1 HG02572.hp2 others(9): Show HG01243.hp2 HG02135.hp1 HG02572.hp2 HG02895.hp2 HG02897.hp2 HG03139.hp2 HG03486.hp1 HG03540.hp2 HG03710.hp2 NA18941.hp2 NA18952.hp1 NA19079.hp1	a0001 a0009 a0011 a0001 a0009 a0011	a0001c0001 a0009c0015 a0011c0016 a0001c0001 a0009c0015 a0011c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0009c0015t0009 a0011c0016t0004	a0001c0001t0001g0122 a0001c0001t0003g0217 a0001c0001t0003g0223 others(9): Show a0001c0001t0001g0122 a0001c0001t0003g0217 a0001c0001t0003g0223 a0001c0001t0003g0225 a0001c0001t0005g0014 a0001c0001t0005g0023 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0028 a0001c0001t0006g0141 a0009c0015t0009g0365 a0011c0016t0004g0352	12	368	0.0326	-18	c.155 others(35): Show c.1559-355_1559-338delTATATATATATATATATG		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	7/17						chr14	TogoVar
HEATR4_chr14_73473484_73563947	73509856	ATATATAT others(11): Show ATATATATATATATTTATT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp2 HG01515.hp1 others(1): Show HG00323.hp1 HG01069.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0003 a0001c0021t0003 a0001c0001t0003 a0001c0021t0003	a0001c0001t0003g0337 a0001c0001t0003g0343 a0001c0001t0003g0344 others(1): Show a0001c0001t0003g0337 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0021t0003g0342	4	368	0.0109	-18	c.155 others(35): Show c.1559-401_1559-384delAATAAATATATATATATA		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	7/17						chr14	TogoVar
HEATR4_chr14_73473484_73563947	73535462	CTTCTTTC others(11): Show CTTCTTTCTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03516.hp1 HG02559.hp2 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0011 a0001c0004t0005g0017 a0001c0004t0005g0011 a0001c0004t0005g0017	2	368	0.0054	-18	c.-15 others(37): Show c.-151-5236_-151-5219delAAAAAAAAAAAGAAAGAA		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	1/17						chr14	TogoVar
HEATR5A_chr14_31286788_31425550	31330771	ACAGAGTG others(11): Show ACAGAGTGAGACTCTGTCT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0010 a0010c0010t0010	a0010c0010t0010g0058 a0010c0010t0010g0058	1	354	0.0028	-18	c.336 others(37): Show c.3368-4447_3368-4430delAGACAGAGTCTCACTCTG		HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	22/35						chr14	TogoVar
HEATR5A_chr14_31286788_31425550	31336209	CATACATA others(11): Show CATACATACATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00735.hp2 others(16): Show HG00099.hp2 HG00639.hp1 HG00735.hp2 HG01069.hp2 HG01081.hp2 HG01175.hp2 HG01192.hp1 HG01257.hp1 HG01358.hp1 HG01517.hp2 HG01975.hp1 HG02074.hp2 HG02132.hp2 HG02258.hp1 HG02965.hp2 HG03704.hp2 NA18970.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0002c0002 a0001c0001 a0001c0015 a0002c0002	a0001c0001t0001 a0001c0015t0001 a0002c0002t0001 a0001c0001t0001 a0001c0015t0001 a0002c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0030 others(16): Show a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0217 a0001c0015t0001g0271 a0001c0015t0001g0308 a0001c0015t0001g0312 a0002c0002t0001g0186	19	354	0.0537	-18	c.336 others(37): Show c.3367+1249_3367+1266delATATATATATGTATGTAT		HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	22/35						chr14	TogoVar
HEATR5A_chr14_31286788_31425550	31336213	CATACATA others(11): Show CATACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01884.hp1 HG02698.hp2 others(7): Show HG00099.hp1 HG01884.hp1 HG02698.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG04184.hp2	a0002 a0007 a0010 others(2): Show a0002 a0007 a0010 a0011 a0024	a0002c0002 a0007c0006 a0010c0010 others(2): Show a0002c0002 a0007c0006 a0010c0010 a0011c0024 a0024c0022	a0002c0002t0001 a0002c0002t0013 a0007c0006t0006 others(3): Show a0002c0002t0001 a0002c0002t0013 a0007c0006t0006 a0010c0010t0007 a0011c0024t0001 a0024c0022t0010	a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0136 others(7): Show a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0136 a0002c0002t0001g0142 a0002c0002t0013g0124 a0002c0002t0013g0188 a0007c0006t0006g0025 a0010c0010t0007g0347 a0011c0024t0001g0099 a0024c0022t0010g0334	10	354	0.0283	-18	c.336 others(37): Show c.3367+1245_3367+1262delATATATATATATATGTAT		HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	22/35						chr14	TogoVar
HEATR5A_chr14_31286788_31425550	31336248	ATATATAT others(11): Show ATATATATATATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0163 a0002c0002t0001g0163	1	354	0.0028	-18	c.336 others(37): Show c.3367+1210_3367+1227delATTATATATATATATATA		HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	22/35						chr14	TogoVar
HEBP2_chr6_138399223_138427197	138401955	TAAAAATG others(11): Show TAAAAATGAGAGAAGAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0050 a0001c0001t0073g0050	1	316	0.0032	-18	c.-25 others(29): Show c.-2540_-2523delAAAAATGAGAGAAGAAAA		HEBP2	ENSG00000051620.11	transcript	ENST00000607197.6	protein_coding					2267		chr6	TogoVar
HECA_chr6_139130080_139185802	139135568	CCGGGCGC others(11): Show CCGGGCGCCGGAGGCGCGG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02015.hp1 HG02027.hp1 HG02300.hp2 others(2): Show HG02015.hp1 HG02027.hp1 HG02300.hp2 HG02559.hp2 NA18941.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0004 a0002c0004t0001 a0002c0004t0004	a0002c0004t0001g0029 a0002c0004t0001g0159 a0002c0004t0004g0182 others(1): Show a0002c0004t0001g0029 a0002c0004t0001g0159 a0002c0004t0004g0182 a0002c0004t0004g0208	5	314	0.0159	-18	c.191 others(25): Show c.191_208delCGGGCGCCGGAGGCGCGG	p.Ala others(11): Show p.Ala64_Ala69del	HECA	ENSG00000112406.5	transcript	ENST00000367658.3	protein_coding	1/4	508/5646	191/1632	64/543		INFO_REALIGN_3_PRIME	chr6	TogoVar
HECTD1_chr14_31095117_31212793	31134551	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp1 HG00738.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0202 a0001c0001t0001g0172 a0001c0001t0001g0202	2	342	0.0059	-18	c.357 others(35): Show c.3578+303_3578+320delGCACACACACACACACAC		HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	22/42						chr14	TogoVar
HECTD1_chr14_31095117_31212793	31134553	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGCGC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0293 a0001c0002t0001g0293	1	342	0.0029	-18	c.357 others(35): Show c.3578+301_3578+318delGCGCACACACACACACAC		HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	22/42						chr14	TogoVar
HECTD4_chr12_112155195_112387431	112217297	GCATACAC others(11): Show GCATACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	270	0.0037	-18	c.707 others(35): Show c.7075-120_7075-103delTGTGTGTGTGTGTGTATG		HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	45/75						chr12	TogoVar
HECW1_chr7_43107647_43571001	43182739	AGATCACT others(11): Show AGATCACTTTTGGTAGTAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00621.hp2 others(40): Show HG00099.hp1 HG00280.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01361.hp1 HG01496.hp1 HG01517.hp1 HG02055.hp1 HG02109.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02630.hp2 HG02976.hp1 HG03130.hp1 HG03486.hp1 HG03491.hp1 HG03540.hp1 HG03579.hp2 HG04228.hp2 NA18906.hp2 NA18952.hp1 NA18968.hp2 NA18983.hp1 NA18992.hp1 NA19087.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0001c0023 a0002c0005 a0002c0009 a0002c0016 a0003c0008 a0004c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(25): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0002t0003 a0001c0002t0017 a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0001c0004t0009 a0001c0006t0001 a0001c0006t0003 a0001c0006t0004 a0001c0006t0019 a0001c0007t0006 a0001c0012t0007 a0001c0023t0006 a0002c0005t0001 a0002c0005t0002 a0002c0005t0008 a0002c0009t0001 a0002c0016t0006 a0003c0008t0001 a0003c0008t0010 a0004c0015t0001	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0003g0087 others(40): Show a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0003g0087 a0001c0001t0005g0060 a0001c0001t0005g0163 a0001c0001t0005g0166 a0001c0001t0012g0159 a0001c0001t0014g0004 a0001c0001t0016g0049 a0001c0002t0001g0099 a0001c0002t0001g0122 a0001c0002t0001g0126 a0001c0002t0001g0141 a0001c0002t0003g0151 a0001c0002t0017g0058 a0001c0003t0001g0102 a0001c0003t0001g0135 a0001c0003t0001g0155 a0001c0004t0001g0061 a0001c0004t0001g0108 a0001c0004t0003g0065 a0001c0004t0009g0121 a0001c0006t0001g0125 a0001c0006t0003g0096 a0001c0006t0004g0009 a0001c0006t0019g0073 a0001c0007t0006g0138 a0001c0007t0006g0139 a0001c0007t0006g0154 a0001c0007t0006g0156 a0001c0012t0007g0177 a0001c0023t0006g0136 a0002c0005t0001g0153 a0002c0005t0002g0008 a0002c0005t0008g0083 a0002c0005t0008g0084 a0002c0005t0008g0086 a0002c0009t0001g0137 a0002c0009t0001g0152 a0002c0016t0006g0143 a0003c0008t0001g0133 a0003c0008t0010g0003 a0004c0015t0001g0176	43	182	0.2363	-18	c.-31 others(37): Show c.-31-61112_-31-61095delCTTTTGGTAGTATGATCA		HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43429289	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00639.hp2 others(21): Show HG00438.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG01074.hp1 HG01243.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02165.hp2 HG03041.hp2 HG03195.hp2 HG03710.hp2 HG03834.hp1 HG04228.hp2 NA18945.hp2 NA18957.hp2 NA18983.hp2 NA19066.hp2 NA19085.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0022 a0001c0023 a0001c0029 a0003c0008 a0005c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0018 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0013 a0001c0006t0001 a0001c0022t0020 a0001c0023t0006 a0001c0029t0013 a0003c0008t0010 a0005c0026t0025	a0001c0001t0001g0062 a0001c0001t0002g0031 a0001c0001t0004g0026 others(21): Show a0001c0001t0001g0062 a0001c0001t0002g0031 a0001c0001t0004g0026 a0001c0001t0004g0046 a0001c0001t0005g0163 a0001c0001t0018g0074 a0001c0002t0001g0104 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0119 a0001c0003t0001g0147 a0001c0003t0004g0048 a0001c0004t0001g0092 a0001c0004t0001g0108 a0001c0004t0002g0053 a0001c0004t0003g0065 a0001c0004t0013g0068 a0001c0006t0001g0109 a0001c0006t0001g0125 a0001c0022t0020g0146 a0001c0023t0006g0136 a0001c0029t0013g0103 a0003c0008t0010g0003 a0005c0026t0025g0149	24	182	0.1319	-18	c.802 others(35): Show c.802-8684_802-8667delTATATATATATATATATA		HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	8/29					INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43565564	ATTATTAT others(11): Show ATTATTATTATTATTATTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18948.hp1 NA18968.hp2 NA18948.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0144 a0001c0001t0012g0159 a0001c0001t0012g0144 a0001c0001t0012g0159	2	182	0.0110	-18	c.36 others(29): Show c.3656_*3673delTTTATTATTATTATTATT		HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	30/30				3656	INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW2_chr2_196189072_196598554	196210264	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTATG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0112 a0001c0001t0028g0112	1	112	0.0089	-18	c.460 others(37): Show c.4607+5583_4607+5600delCATACACACACACACACA		HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	28/28						chr2	TogoVar
HECW2_chr2_196189072_196598554	196273049	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01168.hp1 others(31): Show HG00642.hp1 HG00642.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01891.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02970.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04204.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0001c0013 a0001c0014 a0004c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0014 a0001c0002t0015 a0001c0002t0031 a0001c0009t0001 a0001c0009t0006 a0001c0009t0020 a0001c0013t0008 a0001c0014t0026 a0004c0018t0019	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 others(31): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0003g0018 a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0006g0019 a0001c0001t0012g0034 a0001c0002t0001g0003 a0001c0002t0001g0039 a0001c0002t0001g0044 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0003g0028 a0001c0002t0003g0070 a0001c0002t0004g0006 a0001c0002t0005g0080 a0001c0002t0005g0091 a0001c0002t0006g0035 a0001c0002t0006g0077 a0001c0002t0014g0004 a0001c0002t0015g0011 a0001c0002t0015g0036 a0001c0002t0031g0042 a0001c0009t0001g0040 a0001c0009t0006g0048 a0001c0009t0020g0087 a0001c0013t0008g0020 a0001c0014t0026g0078 a0004c0018t0019g0088	34	112	0.3036	-18	c.323 others(35): Show c.3238+954_3238+971delAAAAAAAAAAAAAAAAAA		HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	16/28						chr2	TogoVar
HECW2_chr2_196189072_196598554	196342530	TTTACTAT others(11): Show TTTACTATTTTTTCAATAA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0003 a0003c0017t0003	a0003c0017t0003g0030 a0003c0017t0003g0030	1	112	0.0089	-18	c.400 others(35): Show c.400+1109_400+1126delTTATTGAAAAAATAGTAA		HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	3/28						chr2	TogoVar
HECW2_chr2_196189072_196598554	196460776	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01261.hp2 HG01358.hp1 others(28): Show HG01169.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01884.hp2 HG02145.hp1 HG02559.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp2 HG02818.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp2 HG04204.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0019 a0001c0021 a0005c0022 a0006c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0017 a0001c0001t0023 a0001c0001t0028 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0011 a0001c0002t0014 a0001c0002t0015 a0001c0005t0008 a0001c0006t0002 a0001c0007t0002 a0001c0019t0001 a0001c0021t0030 a0005c0022t0008 a0006c0024t0003	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0024 others(28): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0072 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0004g0107 a0001c0001t0004g0110 a0001c0001t0006g0014 a0001c0001t0009g0015 a0001c0001t0014g0005 a0001c0001t0017g0111 a0001c0001t0023g0109 a0001c0001t0028g0112 a0001c0002t0001g0104 a0001c0002t0003g0070 a0001c0002t0003g0106 a0001c0002t0006g0010 a0001c0002t0006g0102 a0001c0002t0007g0071 a0001c0002t0011g0046 a0001c0002t0014g0004 a0001c0002t0015g0011 a0001c0005t0008g0007 a0001c0006t0002g0092 a0001c0007t0002g0101 a0001c0019t0001g0103 a0001c0021t0030g0002 a0005c0022t0008g0017 a0006c0024t0003g0108	31	112	0.2768	-18	c.-35 others(37): Show c.-35-27336_-35-27319delAAAAAAAAAAAAAAAAAA		HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28						chr2	TogoVar
HELLS_chr10_94540788_94607099	94580117	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18950.hp2 NA18955.hp1 others(4): Show NA18947.hp2 NA18950.hp2 NA18955.hp1 NA18969.hp1 NA18977.hp2 NA18984.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0081 a0001c0001t0002g0089 others(4): Show a0001c0001t0002g0076 a0001c0001t0002g0081 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0107	7	358	0.0196	-18	c.103 others(37): Show c.1033-1180_1033-1163delTATATATATATATATATA		HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
HELLS_chr10_94540788_94607099	94580152	TATATATA others(11): Show TATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02622.hp2 HG02572.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0039 a0001c0002t0001g0033 a0001c0002t0001g0039	2	358	0.0056	-18	c.103 others(37): Show c.1033-1172_1033-1155delTATATATATACACACACA		HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
HELLS_chr10_94540788_94607099	94587235	ATTAAAAA others(11): Show ATTAAAAAATTTTTAATTT	A A	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	358	0.0028	-18	c.132 others(35): Show c.1327-985_1327-968delTTTTTAATTTTTAAAAAA		HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding	12/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
HELZ_chr17_67065444_67250196	67086619	AATATAAA others(11): Show AATATAAATATAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0216 a0001c0001t0036g0216	1	274	0.0037	-18	c.549 others(35): Show c.5494+192_5494+209delATATATTTATATTTATAT		HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	32/32						chr17	TogoVar
HELZ_chr17_67065444_67250196	67086625	AATATAAA others(11): Show AATATAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03927.hp1 HG01123.hp2 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0042 a0002c0002t0003g0043	2	274	0.0073	-18	c.549 others(35): Show c.5494+186_5494+203delATATATATATATTTATAT		HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	32/32						chr17	TogoVar
HEMGN_chr9_97921791_97943172	97923065	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG03225.hp1 HG03239.hp1 HG00735.hp2 HG03225.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0038 a0001c0001t0003g0006 a0001c0001t0003g0038	3	314	0.0096	-18	c.43 others(29): Show c.4301_*4318delTTTTTTTTTTTTTTTTTT		HEMGN	ENSG00000136929.13	transcript	ENST00000616898.2	protein_coding					3725		chr9	TogoVar
HEPACAM_chr11_124914205_124941047	124920678	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0210 a0001c0001t0047g0210	1	420	0.0024	-18	c.44 others(27): Show c.442_*459delTTTTTTTTTTTTTTTTTT		HEPACAM	ENSG00000165478.8	transcript	ENST00000298251.5	protein_coding	7/7				442		chr11	TogoVar

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