Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CTNNA3_chr10_65907523_67701195	66942548	GTCTCTC GTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18612.hp1 NA18960.hp2 others(1): Show HG03579.hp2 NA18612.hp1 NA18960.hp2 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0019 a0002c0002t0003 others(1): Show a0001c0001t0005 a0001c0001t0019 a0002c0002t0003 a0002c0002t0017	a0001c0001t0005g0010 a0001c0001t0019g0019 a0002c0002t0003g0042 others(1): Show a0001c0001t0005g0010 a0001c0001t0019g0019 a0002c0002t0003g0042 a0002c0002t0017g0040	4	46	0.0870	-6	c.104 others(29): Show c.1048-167030_1048-167025delGAGAGA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66951088	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02145.hp2 HG02717.hp1 others(2): Show HG01070.hp2 HG02145.hp2 HG02717.hp1 HG02965.hp1 HG03130.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0004 a0003c0009 others(1): Show a0001c0001 a0001c0004 a0003c0009 a0005c0010	a0001c0001t0001 a0001c0004t0007 a0003c0009t0003 others(1): Show a0001c0001t0001 a0001c0004t0007 a0003c0009t0003 a0005c0010t0002	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0004t0007g0005 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0004t0007g0005 a0003c0009t0003g0036 a0005c0010t0002g0021	5	46	0.1087	-6	c.104 others(29): Show c.1048-175570_1048-175565delGTGTGT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66957393	CATATAT CATATAT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02896.hp2 HG02897.hp2 others(1): Show HG02818.hp1 HG02896.hp2 HG02897.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0020 a0001c0001t0005 a0001c0001t0006 a0001c0001t0020	a0001c0001t0005g0010 a0001c0001t0006g0007 a0001c0001t0006g0008 others(1): Show a0001c0001t0005g0010 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0020g0030	4	46	0.0870	-6	c.104 others(29): Show c.1048-181875_1048-181870delATATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66957409	TATATGC TATATGC	T T	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA19080.hp1 NA18612.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0001c0001t0004 a0002c0002t0002	a0001c0001t0004g0043 a0002c0002t0002g0013 a0001c0001t0004g0043 a0002c0002t0002g0013	2	46	0.0435	-6	c.104 others(29): Show c.1048-181891_1048-181886delGCATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66972700	ATTTTTT ATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02647.hp1 HG02818.hp2 others(8): Show HG01081.hp2 HG02647.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0002c0002 a0004c0008	a0001c0001t0002 a0001c0001t0006 a0001c0001t0019 others(8): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0019 a0001c0003t0008 a0001c0003t0018 a0001c0004t0001 a0001c0005t0010 a0001c0006t0001 a0001c0007t0015 a0002c0002t0026 a0004c0008t0005	a0001c0001t0002g0009 a0001c0001t0006g0027 a0001c0001t0019g0019 others(8): Show a0001c0001t0002g0009 a0001c0001t0006g0027 a0001c0001t0019g0019 a0001c0003t0008g0002 a0001c0003t0018g0037 a0001c0004t0001g0018 a0001c0005t0010g0034 a0001c0006t0001g0001 a0001c0007t0015g0016 a0002c0002t0026g0046 a0004c0008t0005g0033	11	46	0.2391	-6	c.104 others(29): Show c.1048-197182_1048-197177delAAAAAA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66978051	CACATAT CACATAT	C C	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18960.hp2 NA18964.hp1 others(1): Show NA18612.hp2 NA18960.hp2 NA18964.hp1 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0002c0002t0003 others(1): Show a0001c0001t0004 a0002c0002t0002 a0002c0002t0003 a0002c0002t0017	a0001c0001t0004g0043 a0002c0002t0002g0013 a0002c0002t0003g0042 others(1): Show a0001c0001t0004g0043 a0002c0002t0002g0013 a0002c0002t0003g0042 a0002c0002t0017g0040	4	46	0.0870	-6	c.104 others(29): Show c.1047+202260_1047+202265delATATGT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67017725	CTGTGTG CTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02896.hp1 HG01070.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0009 a0001c0001t0001 a0001c0011t0009	a0001c0001t0001g0015 a0001c0011t0009g0017 a0001c0001t0001g0015 a0001c0011t0009g0017	2	46	0.0435	-6	c.104 others(29): Show c.1047+162586_1047+162591delCACACA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67052313	ACTCTCT ACTCTCT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01243.hp2 HG02280.hp2 others(8): Show HG01070.hp1 HG01243.hp2 HG02280.hp2 HG02647.hp1 HG02922.hp1 HG03195.hp1 HG03540.hp2 NA18612.hp2 NA18960.hp1 NA18964.hp2 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0004t0001 a0001c0006t0001 a0001c0007t0015 a0002c0002t0005	a0001c0001t0002g0009 a0001c0001t0004g0041 a0001c0001t0004g0043 others(8): Show a0001c0001t0002g0009 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0016g0003 a0001c0001t0021g0012 a0001c0001t0024g0044 a0001c0001t0025g0045 a0001c0004t0001g0018 a0001c0006t0001g0001 a0001c0007t0015g0016 a0002c0002t0005g0014	11	46	0.2391	-6	c.104 others(29): Show c.1047+127998_1047+128003delAGAGAG	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67079858	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02647.hp2 HG02717.hp1 others(4): Show HG01243.hp1 HG02647.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp1 HG03130.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0002	a0001c0001t0009 a0001c0003t0011 a0001c0004t0007 others(4): Show a0001c0001t0009 a0001c0003t0011 a0001c0004t0007 a0001c0005t0010 a0001c0007t0015 a0002c0002t0001 a0002c0002t0026	a0001c0001t0009g0031 a0001c0003t0011g0032 a0001c0004t0007g0005 others(4): Show a0001c0001t0009g0031 a0001c0003t0011g0032 a0001c0004t0007g0005 a0001c0005t0010g0029 a0001c0007t0015g0016 a0002c0002t0001g0035 a0002c0002t0026g0046	7	46	0.1522	-6	c.104 others(29): Show c.1047+100453_1047+100458delGTGTGT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67121981	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02896.hp2 HG02897.hp2 others(1): Show HG02647.hp1 HG02896.hp2 HG02897.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 a0001c0001 a0001c0006 a0001c0007	a0001c0001t0006 a0001c0006t0001 a0001c0007t0015 a0001c0001t0006 a0001c0006t0001 a0001c0007t0015	a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0006t0001g0001 others(1): Show a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0006t0001g0001 a0001c0007t0015g0016	4	46	0.0870	-6	c.104 others(27): Show c.1047+58330_1047+58335delTTTTTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67124333	GGTGTGT GGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03579.hp2 NA18960.hp2 HG02897.hp2 HG03579.hp2 NA18960.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0019 a0002c0002t0017 a0001c0001t0006 a0001c0001t0019 a0002c0002t0017	a0001c0001t0006g0007 a0001c0001t0019g0019 a0002c0002t0017g0040 a0001c0001t0006g0007 a0001c0001t0019g0019 a0002c0002t0017g0040	3	46	0.0652	-6	c.104 others(27): Show c.1047+55978_1047+55983delACACAC	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67155529	ATGTGTG ATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01081.hp1 HG01081.hp2 others(31): Show HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01243.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18612.hp1 NA18964.hp1 NA19080.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0002c0002 a0003c0009 a0004c0008 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0003t0008 a0001c0003t0011 a0001c0003t0014 a0001c0003t0018 a0001c0003t0022 a0001c0004t0001 a0001c0004t0007 a0001c0005t0010 a0001c0011t0009 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0013 a0002c0002t0026 a0003c0009t0003 a0004c0008t0005 a0005c0010t0002	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0002g0009 others(31): Show a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0002g0009 a0001c0001t0002g0024 a0001c0001t0003g0023 a0001c0001t0005g0010 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0027 a0001c0001t0007g0020 a0001c0001t0008g0004 a0001c0001t0009g0031 a0001c0001t0012g0038 a0001c0001t0019g0019 a0001c0001t0020g0030 a0001c0001t0023g0011 a0001c0003t0008g0002 a0001c0003t0011g0032 a0001c0003t0014g0025 a0001c0003t0018g0037 a0001c0003t0022g0022 a0001c0004t0001g0018 a0001c0004t0007g0005 a0001c0005t0010g0029 a0001c0011t0009g0017 a0002c0002t0001g0035 a0002c0002t0002g0013 a0002c0002t0003g0042 a0002c0002t0004g0028 a0002c0002t0013g0026 a0002c0002t0026g0046 a0003c0009t0003g0036 a0004c0008t0005g0033 a0005c0010t0002g0021	34	46	0.7391	-6	c.104 others(27): Show c.1047+24782_1047+24787delCACACA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67181693	TCTTATA TCTTATA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03195.hp1 HG02647.hp1 HG03195.hp1	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0001 a0001c0007t0015 a0001c0006t0001 a0001c0007t0015	a0001c0006t0001g0001 a0001c0007t0015g0016 a0001c0006t0001g0001 a0001c0007t0015g0016	2	46	0.0435	-6	c.844 others(23): Show c.844-1179_844-1174delTATAAG	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	6/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67209044	TTTGTTG TTTGTTG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02145.hp1 HG02280.hp1 others(12): Show HG01070.hp2 HG02145.hp1 HG02280.hp1 HG02647.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03130.hp2 HG03195.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0004c0008 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0003t0011 a0001c0003t0014 a0001c0003t0018 a0001c0005t0010 a0002c0002t0003 a0002c0002t0013 a0002c0002t0026 a0004c0008t0005 a0005c0010t0002	a0001c0001t0001g0015 a0001c0001t0002g0024 a0001c0001t0003g0023 others(12): Show a0001c0001t0001g0015 a0001c0001t0002g0024 a0001c0001t0003g0023 a0001c0001t0006g0027 a0001c0001t0008g0004 a0001c0001t0009g0031 a0001c0003t0011g0032 a0001c0003t0014g0025 a0001c0003t0018g0037 a0001c0005t0010g0029 a0002c0002t0003g0039 a0002c0002t0013g0026 a0002c0002t0026g0046 a0004c0008t0005g0033 a0005c0010t0002g0021	15	46	0.3261	-6	c.843 others(25): Show c.843+10557_843+10562delCAACAA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	6/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67353485	ATAGTCT ATAGTCT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01081.hp1 others(14): Show HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01243.hp2 HG02280.hp2 HG02647.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02965.hp2 HG03195.hp1 HG03540.hp2 HG06807.hp1 NA18612.hp1 NA18960.hp1 NA18964.hp2 NA19080.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0001c0006 others(3): Show a0001c0001 a0001c0005 a0001c0006 a0001c0007 a0002c0002 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0005t0010 a0001c0006t0001 a0001c0007t0015 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0004c0008t0005	a0001c0001t0001g0015 a0001c0001t0002g0009 a0001c0001t0005g0010 others(14): Show a0001c0001t0001g0015 a0001c0001t0002g0009 a0001c0001t0005g0010 a0001c0001t0006g0027 a0001c0001t0016g0003 a0001c0001t0020g0030 a0001c0001t0021g0012 a0001c0001t0023g0011 a0001c0001t0024g0044 a0001c0001t0025g0045 a0001c0005t0010g0034 a0001c0006t0001g0001 a0001c0007t0015g0016 a0002c0002t0002g0013 a0002c0002t0004g0028 a0002c0002t0005g0014 a0004c0008t0005g0033	17	46	0.3696	-6	c.580 others(27): Show c.580-133621_580-133616delAGACTA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	5/17			chr10	TogoVar
CTNNAL1_chr9_108937577_109018499	109016658	GTTTTTT GTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01109.hp2 HG02257.hp1 others(3): Show HG00733.hp1 HG01109.hp2 HG02257.hp1 HG03195.hp2 HG03486.hp1 NA18522.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0012 a0003c0003t0001g0310 a0003c0003t0001g0311 others(2): Show a0003c0003t0001g0012 a0003c0003t0001g0310 a0003c0003t0001g0311 a0003c0003t0001g0312 a0003c0003t0001g0313	6	420	0.0143	-6	c.-32 others(17): Show c.-3222_-3217delAAAAAA	CTNNAL1	ENSG00000119326.15	transcript	ENST00000325551.9	protein_coding		3160		chr9	TogoVar
CTNNB1_chr3_41194505_41245443	41220378	ACACACC ACACACC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01358.hp2 HG01975.hp1 others(2): Show HG00323.hp2 HG01358.hp2 HG01975.hp1 HG02004.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0021 a0001c0001t0025 others(1): Show a0001c0001t0005 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026	a0001c0001t0005g0027 a0001c0001t0005g0147 a0001c0001t0021g0160 others(2): Show a0001c0001t0005g0027 a0001c0001t0005g0147 a0001c0001t0021g0160 a0001c0001t0025g0027 a0001c0001t0026g0148	5	342	0.0146	-6	c.-48 others(23): Show c.-48-3623_-48-3618delACACCC	CTNNB1	ENSG00000168036.18	transcript	ENST00000349496.11	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CTNNBIP1_chr1_9843276_9915269	9876845	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp2 HG02717.hp1 others(11): Show HG01167.hp1 HG01243.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03139.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG06807.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 others(1): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0002c0002t0001	a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0169 others(11): Show a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0169 a0001c0001t0007g0281 a0001c0001t0007g0282 a0001c0001t0007g0283 a0001c0001t0007g0284 a0001c0001t0007g0285 a0001c0001t0009g0174 a0001c0001t0009g0175 a0001c0001t0009g0176 a0001c0001t0009g0177 a0001c0001t0009g0178 a0002c0002t0001g0044	14	310	0.0452	-6	c.-25 others(23): Show c.-25+1054_-25+1059delGTGTGT	CTNNBIP1	ENSG00000178585.15	transcript	ENST00000377263.6	protein_coding	3/5			chr1	TogoVar
CTNNBIP1_chr1_9843276_9915269	9899455	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG01884.hp2 others(63): Show HG00423.hp1 HG00544.hp1 HG01884.hp2 HG01891.hp2 HG02027.hp1 HG02040.hp1 HG02109.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03704.hp2 HG04199.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18954.hp2 NA18960.hp2 NA18967.hp1 NA18970.hp1 NA18980.hp1 NA18983.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19004.hp1 NA19007.hp1 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19059.hp1 NA19068.hp2 NA19079.hp1 NA19090.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0004t0015	a0001c0001t0001g0210 a0001c0001t0002g0156 a0001c0001t0002g0157 others(61): Show a0001c0001t0001g0210 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0173 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0266 a0001c0001t0004g0005 a0001c0001t0004g0010 a0001c0001t0004g0041 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0008g0159 a0001c0001t0008g0204 a0001c0001t0008g0217 a0001c0001t0008g0218 a0001c0001t0008g0219 a0001c0001t0008g0220 a0001c0001t0011g0227 a0001c0001t0011g0228 a0001c0001t0011g0229 a0001c0001t0011g0230 a0001c0001t0021g0042 a0001c0001t0022g0221 a0001c0001t0024g0160 a0001c0001t0025g0279 a0001c0001t0026g0203 a0001c0001t0027g0278 a0001c0001t0029g0280 a0001c0004t0015g0277	66	310	0.2129	-6	c.-14 others(27): Show c.-144+10634_-144+10639delTTTTTT	CTNNBIP1	ENSG00000178585.15	transcript	ENST00000377263.6	protein_coding	1/5			chr1	TogoVar
CTNNBL1_chr20_37689030_37877118	37739078	CTGTGTG CTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01169.hp1 HG01261.hp1 others(26): Show HG00738.hp2 HG01169.hp1 HG01261.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03516.hp2 HG03669.hp1 HG03927.hp1 NA18522.hp2 NA18980.hp2 NA18995.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0080 a0001c0001t0001g0081 others(26): Show a0001c0001t0001g0008 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176	29	266	0.1090	-6	c.326 others(23): Show c.326+1628_326+1633delGTGTGT	CTNNBL1	ENSG00000132792.21	transcript	ENST00000361383.11	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CTNNBL1_chr20_37689030_37877118	37751201	TTAATAA TTAATAA	T T	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02293.hp1 NA18982.hp1 HG01943.hp2 HG02293.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007	3	266	0.0113	-6	c.466 others(23): Show c.466+4611_466+4616delAATAAT	CTNNBL1	ENSG00000132792.21	transcript	ENST00000361383.11	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CTNNBL1_chr20_37689030_37877118	37756400	TTCTCTC TTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01496.hp1 HG01884.hp1 others(14): Show HG01361.hp2 HG01496.hp1 HG01884.hp1 HG02486.hp1 HG02572.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02965.hp2 HG02970.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03540.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(14): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0176	17	266	0.0639	-6	c.467 others(23): Show c.467-1142_467-1137delTCTCTC	CTNNBL1	ENSG00000132792.21	transcript	ENST00000361383.11	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CTNNBL1_chr20_37689030_37877118	37854551	ATATTAT ATATTAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02109.hp2 HG02165.hp1 others(13): Show HG00544.hp2 HG02109.hp2 HG02165.hp1 HG02280.hp2 HG02559.hp2 HG02615.hp1 HG02723.hp2 HG02965.hp2 NA18906.hp2 NA18968.hp2 NA18969.hp1 NA19004.hp1 NA19010.hp2 NA19063.hp1 NA19070.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0033 others(13): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0175 a0001c0001t0001g0195 a0001c0001t0001g0214 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0244 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0258	16	266	0.0602	-6	c.139 others(25): Show c.1393-5298_1393-5293delATTATT	CTNNBL1	ENSG00000132792.21	transcript	ENST00000361383.11	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CTNND2_chr5_10966836_11909446	11040247	AAAAAAC AAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18522.hp2 HG03130.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0003 a0002c0008t0001 a0001c0001t0003 a0002c0008t0001	a0001c0001t0003g0026 a0002c0008t0001g0014 a0001c0001t0003g0026 a0002c0008t0001g0014	2	26	0.0769	-6	c.278 others(27): Show c.2789-17274_2789-17269delGTTTTT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	16/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11069702	AGAGAAG AGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18522.hp2 HG03130.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0003 a0002c0008t0001 a0001c0001t0003 a0002c0008t0001	a0001c0001t0003g0026 a0002c0008t0001g0014 a0001c0001t0003g0026 a0002c0008t0001g0014	2	26	0.0769	-6	c.278 others(27): Show c.2788+12988_2788+12993delCTTCTC	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	16/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11081072	TCACACA TCACACA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02922.hp1 HG03130.hp2 others(3): Show HG00738.hp1 HG02922.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0006t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0002 a0001c0009t0001	a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0023 others(3): Show a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0002t0001g0001 a0001c0006t0002g0025 a0001c0009t0001g0008	6	26	0.2308	-6	c.278 others(25): Show c.2788+1618_2788+1623delTGTGTG	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	16/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11307304	AGTGTGT AGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02258.hp1 HG02647.hp1 others(6): Show HG00738.hp2 HG02258.hp1 HG02647.hp1 HG03130.hp2 HG03225.hp1 HG03471.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0002c0008	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0006t0002 a0001c0007t0001 a0002c0008t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0021 others(6): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0003t0001g0007 a0001c0004t0001g0019 a0001c0006t0002g0025 a0001c0007t0001g0002 a0002c0008t0001g0014	9	26	0.3462	-6	c.162 others(27): Show c.1628+39062_1628+39067delACACAC	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	9/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11311779	TCACACA TCACACA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02258.hp1 HG02647.hp2 others(14): Show HG00738.hp1 HG02258.hp1 HG02647.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 NA18522.hp1 NA19043.hp1 NA19043.hp2 NA19068.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0002	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(14): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0015 a0001c0003t0001g0007 a0001c0004t0001g0019 a0001c0005t0001g0020 a0001c0006t0002g0025	17	26	0.6539	-6	c.162 others(27): Show c.1628+34587_1628+34592delTGTGTG	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	9/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11316468	TTTATTA TTTATTA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp2 HG03209.hp1 others(3): Show HG02922.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0002 a0001c0001t0001 a0001c0006t0002	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0021 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0006t0002g0025	6	26	0.2308	-6	c.162 others(27): Show c.1628+29898_1628+29903delTAATAA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	9/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11492503	ATATGTG ATATGTG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03471.hp2 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0022 a0001c0001t0001g0024	2	26	0.0769	-6	c.287 others(25): Show c.287+72435_287+72440delCACATA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	3/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11492505	ATGTGTG ATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp1 HG02258.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0026 a0001c0002t0001g0013 a0001c0001t0003g0026 a0001c0002t0001g0013	2	26	0.0769	-6	c.287 others(25): Show c.287+72433_287+72438delCACACA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	3/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11551432	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02647.hp2 others(9): Show HG02258.hp1 HG02258.hp2 HG02647.hp2 HG02922.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 others(9): Show a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0003g0026 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0003t0001g0007 a0001c0005t0001g0020	12	26	0.4615	-6	c.287 others(25): Show c.287+13506_287+13511delAAAAAA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	3/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11625389	ATCTCTC ATCTCTC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18522.hp1 HG03209.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0010 a0001c0009t0001g0008 a0001c0001t0001g0010 a0001c0009t0001g0008	2	26	0.0769	-6	c.175 others(25): Show c.175-60339_175-60334delGAGAGA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11629259	AAACAAC AAACAAC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18522.hp1 HG03209.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0010 a0001c0009t0001g0008 a0001c0001t0001g0010 a0001c0009t0001g0008	2	26	0.0769	-6	c.175 others(25): Show c.175-64209_175-64204delGTTGTT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11653070	CGTGTGT CGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03130.hp2 HG03209.hp2 others(3): Show HG02647.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0006t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0002 a0001c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0002t0001g0006 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0002t0001g0006 a0001c0002t0001g0015 a0001c0006t0002g0025 a0001c0009t0001g0008	6	26	0.2308	-6	c.174 others(25): Show c.174+79060_174+79065delACACAC	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11756647	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG02258.hp1 others(17): Show HG00738.hp1 HG00738.hp2 HG02258.hp1 HG02647.hp1 HG02647.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 NA18522.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp1 NA19068.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0002 a0001c0007t0001 a0001c0009t0001 a0002c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 others(17): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0015 a0001c0003t0001g0007 a0001c0004t0001g0019 a0001c0005t0001g0020 a0001c0006t0002g0025 a0001c0007t0001g0002 a0001c0009t0001g0008 a0002c0008t0001g0014	20	26	0.7692	-6	c.38- others(23): Show c.38-24381_38-24376delGTGTGT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11847128	TTATATA TTATATA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19068.hp1 HG03471.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0024 a0001c0002t0001g0001 a0001c0001t0001g0024 a0001c0002t0001g0001	2	26	0.0769	-6	c.37+ others(23): Show c.37+56683_37+56688delTATATA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNS_chr17_3631760_3668103	3641355	GATACAT GATACAT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00735.hp2 HG00738.hp1 others(21): Show HG00544.hp2 HG00735.hp2 HG00738.hp1 HG01071.hp1 HG01255.hp2 HG01358.hp1 HG02080.hp1 HG02148.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG03098.hp2 HG03688.hp2 NA18950.hp2 NA18956.hp2 NA18967.hp2 NA18974.hp1 NA18989.hp1 NA19043.hp1 NA19043.hp2 NA19082.hp2 NA20300.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0005 others(1): Show a0001c0001 a0002c0002 a0003c0005 a0005c0009	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(10): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0022 a0001c0001t0031 a0001c0001t0039 a0001c0001t0044 a0001c0001t0054 a0001c0001t0093 a0002c0002t0004 a0003c0005t0008 a0005c0009t0014	a0001c0001t0002g0021 a0001c0001t0002g0066 a0001c0001t0002g0093 others(21): Show a0001c0001t0002g0021 a0001c0001t0002g0066 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0005g0048 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0091 a0001c0001t0005g0094 a0001c0001t0007g0092 a0001c0001t0014g0014 a0001c0001t0014g0116 a0001c0001t0022g0059 a0001c0001t0031g0021 a0001c0001t0039g0114 a0001c0001t0044g0014 a0001c0001t0054g0058 a0001c0001t0093g0109 a0002c0002t0004g0111 a0003c0005t0008g0041 a0005c0009t0014g0014	24	372	0.0645	-6	c.61+ others(21): Show c.61+1092_61+1097delCATATA	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTNS_chr17_3631760_3668103	3665740	TCCAAAA TCCAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02647.hp1 others(3): Show HG02257.hp2 HG02258.hp1 HG02647.hp1 HG02970.hp2 HG02976.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0064 a0001c0004t0018 a0001c0004t0027 a0001c0001t0064 a0001c0004t0018 a0001c0004t0027	a0001c0001t0064g0011 a0001c0004t0018g0117 a0001c0004t0018g0118 others(3): Show a0001c0001t0064g0011 a0001c0004t0018g0117 a0001c0004t0018g0118 a0001c0004t0018g0119 a0001c0004t0027g0295 a0001c0004t0027g0296	6	372	0.0161	-6	c.53 others(17): Show c.5372_*5377delCCAAAA	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding		2638		chr17	TogoVar
CTPS2_chrX_16582999_16717669	16630251	ATTTTTT ATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	226	0.0044	-6	c.139 others(25): Show c.1393+8890_1393+8895delAAAAAA	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	14/18			chrX	TogoVar
CTR9_chr11_10746246_10784746	10775729	CTTTCTT CTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(256): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0013 a0002c0010 a0003c0009 a0004c0011 a0005c0012 a0006c0014 a0007c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0005t0002 a0001c0013t0002 a0002c0010t0001 a0003c0009t0001 a0004c0011t0006 a0005c0012t0002 a0006c0014t0001 a0007c0015t0002	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(122): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0171 a0001c0001t0001g0179 a0001c0001t0002g0001 a0001c0001t0002g0017 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0054 a0001c0001t0002g0096 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0204 a0001c0001t0007g0003 a0001c0001t0008g0026 a0001c0002t0001g0118 a0001c0002t0001g0142 a0001c0003t0001g0187 a0001c0003t0002g0188 a0001c0003t0002g0190 a0001c0005t0002g0001 a0001c0005t0002g0170 a0001c0013t0002g0043 a0002c0010t0001g0133 a0003c0009t0001g0098 a0004c0011t0006g0076 a0005c0012t0002g0167 a0006c0014t0001g0011 a0007c0015t0002g0158	259	406	0.6379	-6	c.309 others(23): Show c.3095+104_3095+109delTTCTTT	CTR9	ENSG00000198730.9	transcript	ENST00000361367.7	protein_coding	24/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CTSA_chr20_45886335_45903820	45893486	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG01358.hp2 others(25): Show HG00423.hp1 HG00597.hp1 HG01358.hp2 HG02165.hp2 HG02451.hp1 HG02559.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp2 HG02809.hp1 HG02922.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03688.hp1 HG03834.hp1 HG03927.hp2 NA18906.hp1 NA18952.hp2 NA18961.hp1 NA18973.hp1 NA18978.hp1 NA19002.hp1 NA19057.hp1 NA19065.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0028 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0005t0001g0024	28	430	0.0651	-6	c.692 others(21): Show c.692+184_692+189delTTTTTT	CTSA	ENSG00000064601.21	transcript	ENST00000646241.3	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
CTSB_chr8_11837524_11873087	11850436	AAAAAAG AAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp1 others(169): Show HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0009 a0011	a0001c0003 a0001c0004 a0002c0002 others(6): Show a0001c0003 a0001c0004 a0002c0002 a0002c0006 a0002c0022 a0004c0005 a0005c0007 a0009c0016 a0011c0020	a0001c0003t0001 a0001c0003t0003 a0001c0003t0010 others(50): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0010 a0001c0003t0013 a0001c0003t0018 a0001c0004t0035 a0001c0004t0055 a0001c0004t0056 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0002t0010 a0002c0002t0013 a0002c0002t0016 a0002c0002t0018 a0002c0002t0022 a0002c0002t0026 a0002c0002t0033 a0002c0002t0037 a0002c0002t0049 a0002c0002t0051 a0002c0002t0057 a0002c0002t0060 a0002c0002t0061 a0002c0002t0062 a0002c0002t0063 a0002c0002t0064 a0002c0002t0065 a0002c0002t0067 a0002c0002t0068 a0002c0002t0069 a0002c0002t0070 a0002c0002t0071 a0002c0002t0072 a0002c0002t0075 a0002c0002t0085 a0002c0002t0087 a0002c0002t0088 a0002c0006t0002 a0002c0006t0096 a0002c0022t0013 a0004c0005t0004 a0004c0005t0030 a0004c0005t0032 a0004c0005t0050 a0004c0005t0053 a0004c0005t0092 a0005c0007t0011 a0005c0007t0034 a0009c0016t0001 a0011c0020t0001	a0001c0003t0001g0091 a0001c0003t0003g0056 a0001c0003t0010g0335 others(142): Show a0001c0003t0001g0091 a0001c0003t0003g0056 a0001c0003t0010g0335 a0001c0003t0013g0359 a0001c0003t0018g0169 a0001c0003t0018g0256 a0001c0004t0035g0186 a0001c0004t0055g0350 a0001c0004t0056g0043 a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0028 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0001g0057 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0088 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0111 a0002c0002t0001g0115 a0002c0002t0001g0128 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0147 a0002c0002t0001g0334 a0002c0002t0001g0343 a0002c0002t0001g0354 a0002c0002t0002g0033 a0002c0002t0002g0037 a0002c0002t0002g0072 a0002c0002t0002g0250 a0002c0002t0004g0032 a0002c0002t0004g0034 a0002c0002t0004g0035 a0002c0002t0004g0036 a0002c0002t0004g0038 a0002c0002t0004g0168 a0002c0002t0006g0016 a0002c0002t0006g0170 a0002c0002t0006g0171 a0002c0002t0006g0173 a0002c0002t0006g0174 a0002c0002t0008g0055 a0002c0002t0010g0017 a0002c0002t0010g0201 a0002c0002t0010g0211 a0002c0002t0013g0063 a0002c0002t0013g0068 a0002c0002t0016g0010 a0002c0002t0016g0075 a0002c0002t0016g0076 a0002c0002t0016g0097 a0002c0002t0018g0160 a0002c0002t0018g0200 a0002c0002t0022g0023 a0002c0002t0026g0273 a0002c0002t0026g0274 a0002c0002t0026g0276 a0002c0002t0033g0356 a0002c0002t0033g0357 a0002c0002t0037g0150 a0002c0002t0037g0154 a0002c0002t0049g0372 a0002c0002t0049g0374 a0002c0002t0051g0083 a0002c0002t0057g0139 a0002c0002t0060g0077 a0002c0002t0061g0050 a0002c0002t0062g0272 a0002c0002t0063g0112 a0002c0002t0064g0086 a0002c0002t0065g0117 a0002c0002t0067g0146 a0002c0002t0068g0054 a0002c0002t0069g0058 a0002c0002t0070g0116 a0002c0002t0071g0069 a0002c0002t0072g0113 a0002c0002t0075g0092 a0002c0002t0085g0087 a0002c0002t0087g0059 a0002c0002t0088g0353 a0002c0006t0002g0011 a0002c0006t0096g0373 a0002c0022t0013g0067 a0004c0005t0004g0184 a0004c0005t0004g0185 a0004c0005t0004g0189 a0004c0005t0004g0203 a0004c0005t0004g0205 a0004c0005t0004g0208 a0004c0005t0004g0210 a0004c0005t0004g0212 a0004c0005t0030g0206 a0004c0005t0030g0207 a0004c0005t0032g0018 a0004c0005t0050g0204 a0004c0005t0053g0209 a0004c0005t0092g0369 a0005c0007t0011g0265 a0005c0007t0011g0267 a0005c0007t0011g0268 a0005c0007t0011g0269 a0005c0007t0011g0270 a0005c0007t0034g0266 a0005c0007t0034g0348 a0009c0016t0001g0120 a0011c0020t0001g0062	172	438	0.3927	-6	c.327 others(21): Show c.327+424_327+429delCTTTTT	CTSB	ENSG00000164733.23	transcript	ENST00000353047.11	protein_coding	4/9			chr8	TogoVar
CTSB_chr8_11837524_11873087	11859767	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG01515.hp1 others(9): Show HG00639.hp1 HG01109.hp1 HG01515.hp1 HG02698.hp1 HG02698.hp2 HG03041.hp1 HG03209.hp1 HG03239.hp1 HG03688.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0003c0009 a0001c0003 a0002c0002 a0003c0009	a0001c0003t0004 a0001c0003t0005 a0001c0003t0010 others(5): Show a0001c0003t0004 a0001c0003t0005 a0001c0003t0010 a0001c0003t0047 a0001c0003t0048 a0001c0003t0089 a0002c0002t0001 a0003c0009t0024	a0001c0003t0004g0340 a0001c0003t0005g0332 a0001c0003t0005g0333 others(9): Show a0001c0003t0004g0340 a0001c0003t0005g0332 a0001c0003t0005g0333 a0001c0003t0005g0336 a0001c0003t0005g0360 a0001c0003t0010g0335 a0001c0003t0047g0331 a0001c0003t0048g0339 a0001c0003t0089g0330 a0002c0002t0001g0334 a0003c0009t0024g0194 a0003c0009t0024g0195	12	438	0.0274	-6	c.-25 others(23): Show c.-25-6294_-25-6289delTTTTTT	CTSB	ENSG00000164733.23	transcript	ENST00000353047.11	protein_coding	1/9			chr8	TogoVar
CTSC_chr11_88288592_88342736	88290844	CATATAT CATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG01069.hp2 others(40): Show HG00621.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01123.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG02080.hp2 HG02135.hp1 HG02257.hp1 HG02273.hp2 HG02300.hp1 HG02572.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02818.hp1 HG02922.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03688.hp1 HG03710.hp2 HG04228.hp1 HG04228.hp2 NA18947.hp2 NA18953.hp2 NA18975.hp2 NA18978.hp1 NA18994.hp1 NA19043.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0024 others(30): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0086 a0001c0001t0001g0170 a0001c0001t0001g0184 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0215 a0001c0001t0001g0273 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0305 a0001c0001t0002g0006 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0002c0002t0001g0293 a0003c0003t0001g0117	43	434	0.0991	-6	c.31 others(17): Show c.3156_*3161delATATAT	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding		2747		chr11	TogoVar
CTSC_chr11_88288592_88342736	88301806	GCGCGCA GCGCGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00597.hp1 others(58): Show HG00099.hp2 HG00408.hp1 HG00597.hp1 HG00621.hp2 HG00733.hp1 HG00738.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01358.hp2 HG01496.hp2 HG01975.hp2 HG01993.hp2 HG02056.hp1 HG02071.hp1 HG02148.hp1 HG02258.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02647.hp1 HG02723.hp2 HG02738.hp1 HG02970.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG04204.hp2 NA18612.hp2 NA18945.hp1 NA18948.hp1 NA18955.hp1 NA18959.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18974.hp1 NA18977.hp2 NA18984.hp2 NA18985.hp1 NA18999.hp2 NA19000.hp1 NA19030.hp2 NA19055.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19072.hp1 NA19075.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0018 others(46): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0062 a0001c0001t0001g0118 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0220 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316	61	434	0.1406	-6	c.642 others(23): Show c.642-1167_642-1162delTGCGCG	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding	4/6			chr11	TogoVar
CTSC_chr11_88288592_88342736	88309812	GCGCACA GCGCACA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00733.hp2 others(36): Show HG00140.hp1 HG00642.hp1 HG00733.hp2 HG01109.hp1 HG01123.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02056.hp2 HG02074.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02809.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03579.hp2 HG06807.hp2 NA18950.hp1 NA18953.hp1 NA18959.hp2 NA18960.hp1 NA18966.hp1 NA18979.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp1 NA19006.hp1 NA19055.hp2 NA19057.hp1 NA19068.hp1 NA19070.hp2 NA19081.hp1 NA19083.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0177 a0001c0001t0001g0227 a0001c0001t0001g0273 others(25): Show a0001c0001t0001g0177 a0001c0001t0001g0227 a0001c0001t0001g0273 a0001c0001t0002g0057 a0001c0001t0002g0058 a0002c0002t0001g0005 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0116 a0002c0002t0001g0228	39	434	0.0899	-6	c.486 others(21): Show c.486-500_486-495delTGTGCG	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding	3/6			chr11	TogoVar
CTSC_chr11_88288592_88342736	88309814	GCACACA GCACACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00544.hp2 others(66): Show HG00099.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01257.hp2 HG01261.hp2 HG01934.hp2 HG01943.hp2 HG02004.hp2 HG02015.hp2 HG02145.hp2 HG02257.hp2 HG02273.hp2 HG02683.hp2 HG02698.hp2 HG02818.hp1 HG03209.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 NA18943.hp2 NA18947.hp2 NA18951.hp1 NA18957.hp1 NA18967.hp1 NA18968.hp1 NA18975.hp2 NA18978.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18989.hp1 NA18990.hp2 NA18997.hp1 NA19001.hp1 NA19006.hp2 NA19007.hp1 NA19011.hp1 NA19043.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp2 NA19078.hp1 NA19086.hp2 NA19087.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 a0001c0001t0001 a0001c0006t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 others(35): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0226 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0006t0001g0089 a0002c0002t0001g0293	69	434	0.1590	-6	c.486 others(21): Show c.486-502_486-497delTGTGTG	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding	3/6			chr11	TogoVar
CTSG_chr14_24568518_24581250	24570940	CGTGTGT CGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(117): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01123.hp1 HG01123.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp1 NA19072.hp1 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19088.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 a0001c0001t0001 a0001c0007t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0007t0001g0022 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0007t0001g0022 a0002c0002t0001g0003	120	440	0.2727	-6	c.26 others(17): Show c.2691_*2696delACACAC	CTSG	ENSG00000100448.4	transcript	ENST00000216336.3	protein_coding		2577		chr14	TogoVar
CTSH_chr15_78916058_78950046	78918204	GCCCCCT GCCCCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02280.hp2 HG02630.hp1 others(11): Show HG02145.hp1 HG02280.hp2 HG02630.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0006 a0001c0001 a0001c0013 a0002c0006	a0001c0001t0003 a0001c0001t0008 a0001c0013t0002 others(2): Show a0001c0001t0003 a0001c0001t0008 a0001c0013t0002 a0002c0006t0002 a0002c0006t0017	a0001c0001t0003g0025 a0001c0001t0003g0216 a0001c0001t0008g0038 others(7): Show a0001c0001t0003g0025 a0001c0001t0003g0216 a0001c0001t0008g0038 a0001c0001t0008g0039 a0001c0013t0002g0342 a0002c0006t0002g0032 a0002c0006t0002g0267 a0002c0006t0002g0268 a0002c0006t0002g0269 a0002c0006t0017g0041	14	414	0.0338	-6	c.39 others(17): Show c.3920_*3925delAGGGGG	CTSH	ENSG00000103811.18	transcript	ENST00000220166.10	protein_coding		2853		chr15	TogoVar

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