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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SCHIP1_chr3_159268244_159902359	159432335	TGTGTGA TGTGTGA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02622.hp2 HG01169.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0093 a0001c0002t0003g0083 a0001c0001t0001g0093 a0001c0002t0003g0083	2	100	0.0200	-6	c.63+ others(25): Show c.63+158454_63+158459delTGTGAG	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159432339	TGAGAGA TGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03225.hp2 NA19030.hp2 HG02486.hp2 HG03225.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0060 a0001c0002t0001g0029 a0001c0002t0001g0061 a0001c0001t0001g0060 a0001c0002t0001g0029 a0001c0002t0001g0061	3	100	0.0300	-6	c.63+ others(25): Show c.63+158474_63+158479delAGAGAG	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159465315	TTGTGTG TTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03579.hp1 HG03540.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0073 a0002c0003t0001g0091 a0001c0001t0001g0073 a0002c0003t0001g0091	2	100	0.0200	-6	c.63+ others(25): Show c.63+191452_63+191457delGTGTGT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159517166	TTTACTC TTTACTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02886.hp1 HG02897.hp1 HG02451.hp1 HG02886.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0075 a0001c0002t0001g0022 a0001c0002t0002g0047 a0001c0001t0001g0075 a0001c0002t0001g0022 a0001c0002t0002g0047	3	100	0.0300	-6	c.63+ others(25): Show c.63+243285_63+243290delTACTCT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159543117	GTATATA GTATATA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp1 HG02965.hp1 others(1): Show HG02451.hp2 HG02717.hp1 HG02965.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0035 a0001c0001t0001g0050 a0001c0002t0001g0074 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0050 a0001c0002t0001g0074 a0001c0002t0001g0084	4	100	0.0400	-6	c.64- others(25): Show c.64-221311_64-221306delTATATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159553967	CGTGTGT CGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02572.hp2 others(9): Show HG02055.hp1 HG02451.hp1 HG02572.hp2 HG02630.hp2 HG02698.hp1 HG02735.hp1 HG02897.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp2 HG03540.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0025 others(9): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0045 a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0082	12	100	0.1200	-6	c.64- others(25): Show c.64-210429_64-210424delGTGTGT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159582785	TATACAC TATACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02630.hp2 others(6): Show HG02055.hp1 HG02451.hp1 HG02630.hp2 HG02717.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03540.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0035 a0001c0001t0001g0045 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0002t0001g0082 a0001c0002t0001g0084	9	100	0.0900	-6	c.64- others(25): Show c.64-181656_64-181651delTACACA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159590582	AATAAAT AATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01243.hp1 others(51): Show HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0023 others(51): Show a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0039 a0001c0002t0001g0051 a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0001g0079 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0002g0047 a0001c0002t0003g0083 a0001c0004t0001g0018 a0002c0003t0001g0091	54	100	0.5400	-6	c.64- others(25): Show c.64-173859_64-173854delTAAATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159626091	TAGATAG TAGATAG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02622.hp2 others(3): Show HG02451.hp2 HG02486.hp1 HG02622.hp2 HG02717.hp2 HG02965.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0050 a0001c0002t0001g0039 a0001c0002t0001g0058 others(3): Show a0001c0001t0001g0050 a0001c0002t0001g0039 a0001c0002t0001g0058 a0001c0002t0001g0074 a0001c0002t0001g0079 a0001c0002t0003g0083	6	100	0.0600	-6	c.64- others(25): Show c.64-138350_64-138345delGATAGA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159626103	TAGATAG TAGATAG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp1 HG02622.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0031 a0001c0002t0002g0047 a0001c0001t0001g0031 a0001c0002t0002g0047	2	100	0.0200	-6	c.64- others(25): Show c.64-138338_64-138333delGATAGA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159627579	CCTAAGT CCTAAGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18522.hp1 HG01884.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0077 a0001c0001t0001g0037 a0001c0001t0001g0077	2	100	0.0200	-6	c.64- others(25): Show c.64-136860_64-136855delAGTCTA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159637371	CCACACA CCACACA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp2 HG02572.hp1 others(4): Show HG01891.hp2 HG02486.hp2 HG02572.hp1 HG03098.hp1 HG03139.hp1 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0040 a0001c0001t0001g0060 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0040 a0001c0001t0001g0060 a0001c0002t0001g0033 a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0076	7	100	0.0700	-6	c.64- others(25): Show c.64-127026_64-127021delACACAC	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159722596	CATGTGT CATGTGT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02897.hp1 HG01255.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0044 a0001c0002t0001g0022 a0001c0001t0001g0044 a0001c0002t0001g0022	2	100	0.0200	-6	c.64- others(23): Show c.64-41834_64-41829delATGTGT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159828370	TATATAC TATATAC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19043.hp1 NA20300.hp2 NA18906.hp1 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0063 a0001c0001t0001g0094 a0001c0001t0001g0036 a0001c0001t0001g0063 a0001c0001t0001g0094	3	100	0.0300	-6	c.760 others(25): Show c.760-37787_760-37782delCATATA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159864470	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02055.hp2 HG02451.hp1 others(6): Show HG02027.hp1 HG02055.hp2 HG02451.hp1 HG02630.hp2 HG02976.hp1 HG03139.hp2 HG03195.hp1 HG03540.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0020 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0045 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0090	9	100	0.0900	-6	c.760 others(23): Show c.760-1653_760-1648delCACACA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159900597	TCTCTCA TCTCTCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG03225.hp2 others(1): Show HG01891.hp1 HG01891.hp2 HG03225.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0040 a0001c0001t0001g0068 a0001c0002t0001g0033 others(1): Show a0001c0001t0001g0040 a0001c0001t0001g0068 a0001c0002t0001g0033 a0001c0002t0001g0061	4	100	0.0400	-6	c.38 others(17): Show c.3824_*3829delCTCTCA	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding		3239		chr3	TogoVar
SCIMP_chr17_5203920_5239860	5217380	TTGTGTG TTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG00673.hp1 others(43): Show HG00544.hp2 HG00621.hp1 HG00673.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01192.hp2 HG02015.hp2 HG02280.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG03098.hp2 HG03139.hp1 HG03471.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03834.hp2 HG04115.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp2 NA18953.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18966.hp2 NA18969.hp2 NA18973.hp1 NA18977.hp1 NA18986.hp1 NA18990.hp1 NA18993.hp2 NA18997.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19055.hp1 NA19057.hp1 NA19066.hp1 NA19077.hp2 NA19086.hp2 NA19088.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012	a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0112 others(40): Show a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0167 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0299 a0001c0001t0001g0304 a0001c0001t0001g0309 a0001c0001t0001g0327 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0004g0290 a0001c0001t0005g0115 a0001c0001t0012g0024	46	386	0.1192	-6	c.210 others(23): Show c.210-2388_210-2383delCACACA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	3/4			chr17	TogoVar
SCIMP_chr17_5203920_5239860	5227292	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01358.hp2 HG01884.hp2 others(6): Show HG01123.hp2 HG01358.hp2 HG01884.hp2 HG02109.hp1 HG02486.hp1 HG02630.hp1 HG02965.hp1 HG03225.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0118 a0001c0001t0001g0145 a0001c0001t0001g0255 others(6): Show a0001c0001t0001g0118 a0001c0001t0001g0145 a0001c0001t0001g0255 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0002t0003g0054	9	386	0.0233	-6	c.22- others(21): Show c.22-3842_22-3837delGTGTGT	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCIMP_chr17_5203920_5239860	5238118	GTTTGTT GTTTGTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG03130.hp2 NA19043.hp2 HG01517.hp1 HG03130.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 a0001c0001t0001 a0001c0001t0004 a0001c0002t0003	a0001c0001t0001g0150 a0001c0001t0004g0146 a0001c0002t0003g0011 a0001c0001t0001g0150 a0001c0001t0004g0146 a0001c0002t0003g0011	3	386	0.0078	-6	c.-33 others(17): Show c.-3369_-3364delAACAAA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding		3259		chr17	TogoVar
SCIN_chr7_12565720_12665182	12569183	GACACAC GACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00544.hp2 others(49): Show HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01243.hp2 HG01433.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02083.hp2 HG02257.hp2 HG02280.hp2 HG02523.hp2 HG02572.hp2 HG02723.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03688.hp1 HG03834.hp2 HG04184.hp1 NA18747.hp1 NA18941.hp1 NA18944.hp1 NA18952.hp1 NA18959.hp1 NA18979.hp1 NA19007.hp2 NA19080.hp2 NA20300.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0009 a0010 a0012 a0016 a0018	a0001c0001 a0002c0002 a0002c0003 others(8): Show a0001c0001 a0002c0002 a0002c0003 a0002c0010 a0003c0004 a0005c0008 a0009c0011 a0010c0012 a0012c0017 a0016c0020 a0018c0022	a0001c0001t0001 a0001c0001t0042 a0001c0001t0049 others(46): Show a0001c0001t0001 a0001c0001t0042 a0001c0001t0049 a0001c0001t0180 a0001c0001t0237 a0001c0001t0245 a0001c0001t0259 a0002c0002t0001 a0002c0002t0006 a0002c0002t0008 a0002c0002t0016 a0002c0002t0024 a0002c0002t0049 a0002c0002t0070 a0002c0002t0073 a0002c0002t0080 a0002c0002t0088 a0002c0002t0094 a0002c0002t0108 a0002c0002t0136 a0002c0002t0140 a0002c0002t0154 a0002c0002t0166 a0002c0002t0211 a0002c0002t0214 a0002c0002t0219 a0002c0002t0220 a0002c0002t0221 a0002c0002t0242 a0002c0002t0257 a0002c0002t0258 a0002c0002t0260 a0002c0002t0263 a0002c0002t0265 a0002c0002t0267 a0002c0003t0003 a0002c0003t0233 a0002c0010t0072 a0002c0010t0148 a0002c0010t0172 a0003c0004t0006 a0005c0008t0098 a0009c0011t0178 a0010c0012t0089 a0010c0012t0092 a0010c0012t0095 a0012c0017t0145 a0016c0020t0213 a0018c0022t0033	a0001c0001t0001g0123 a0001c0001t0042g0178 a0001c0001t0049g0080 others(49): Show a0001c0001t0001g0123 a0001c0001t0042g0178 a0001c0001t0049g0080 a0001c0001t0180g0082 a0001c0001t0237g0134 a0001c0001t0245g0133 a0001c0001t0259g0135 a0002c0002t0001g0253 a0002c0002t0001g0277 a0002c0002t0001g0352 a0002c0002t0006g0265 a0002c0002t0008g0267 a0002c0002t0016g0274 a0002c0002t0024g0335 a0002c0002t0049g0247 a0002c0002t0070g0353 a0002c0002t0073g0270 a0002c0002t0080g0273 a0002c0002t0088g0281 a0002c0002t0094g0260 a0002c0002t0108g0254 a0002c0002t0136g0271 a0002c0002t0140g0259 a0002c0002t0154g0276 a0002c0002t0166g0255 a0002c0002t0211g0266 a0002c0002t0214g0262 a0002c0002t0219g0328 a0002c0002t0220g0325 a0002c0002t0221g0326 a0002c0002t0242g0248 a0002c0002t0257g0324 a0002c0002t0258g0252 a0002c0002t0260g0261 a0002c0002t0263g0246 a0002c0002t0265g0245 a0002c0002t0267g0333 a0002c0003t0003g0338 a0002c0003t0233g0256 a0002c0010t0072g0263 a0002c0010t0148g0268 a0002c0010t0172g0264 a0003c0004t0006g0002 a0003c0004t0006g0113 a0005c0008t0098g0077 a0009c0011t0178g0354 a0010c0012t0089g0285 a0010c0012t0092g0284 a0010c0012t0095g0283 a0012c0017t0145g0216 a0016c0020t0213g0272 a0018c0022t0033g0282	52	372	0.1398	-6	c.-16 others(17): Show c.-1603_-1598delACACAC	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding		1536		chr7	TogoVar
SCIN_chr7_12565720_12665182	12588833	GTGGGAA GTGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(77): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02071.hp1 HG02083.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02523.hp2 HG02572.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18959.hp1 NA18965.hp2 NA18966.hp1 NA18978.hp2 NA18979.hp1 NA18987.hp2 NA18992.hp1 NA18992.hp2 NA19002.hp2 NA19012.hp1 NA19066.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0007 others(5): Show a0001 a0002 a0007 a0010 a0011 a0015 a0016 a0017	a0001c0001 a0002c0002 a0002c0003 others(7): Show a0001c0001 a0002c0002 a0002c0003 a0002c0010 a0007c0007 a0010c0012 a0011c0013 a0015c0018 a0016c0020 a0017c0021	a0001c0001t0012 a0002c0002t0001 a0002c0002t0004 others(72): Show a0001c0001t0012 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0012 a0002c0002t0016 a0002c0002t0017 a0002c0002t0024 a0002c0002t0025 a0002c0002t0027 a0002c0002t0028 a0002c0002t0029 a0002c0002t0031 a0002c0002t0032 a0002c0002t0039 a0002c0002t0044 a0002c0002t0045 a0002c0002t0049 a0002c0002t0067 a0002c0002t0070 a0002c0002t0071 a0002c0002t0073 a0002c0002t0080 a0002c0002t0086 a0002c0002t0087 a0002c0002t0088 a0002c0002t0101 a0002c0002t0108 a0002c0002t0118 a0002c0002t0122 a0002c0002t0131 a0002c0002t0133 a0002c0002t0136 a0002c0002t0140 a0002c0002t0154 a0002c0002t0166 a0002c0002t0173 a0002c0002t0174 a0002c0002t0186 a0002c0002t0188 a0002c0002t0198 a0002c0002t0211 a0002c0002t0214 a0002c0002t0215 a0002c0002t0216 a0002c0002t0219 a0002c0002t0222 a0002c0002t0232 a0002c0002t0234 a0002c0002t0238 a0002c0002t0239 a0002c0002t0241 a0002c0002t0243 a0002c0002t0257 a0002c0002t0258 a0002c0002t0260 a0002c0002t0261 a0002c0002t0263 a0002c0002t0265 a0002c0002t0267 a0002c0003t0030 a0002c0010t0072 a0002c0010t0148 a0002c0010t0172 a0007c0007t0033 a0010c0012t0095 a0011c0013t0048 a0015c0018t0017 a0016c0020t0213 a0017c0021t0004	a0001c0001t0012g0084 a0002c0002t0001g0253 a0002c0002t0001g0310 others(77): Show a0001c0001t0012g0084 a0002c0002t0001g0253 a0002c0002t0001g0310 a0002c0002t0001g0352 a0002c0002t0004g0291 a0002c0002t0005g0007 a0002c0002t0005g0288 a0002c0002t0006g0308 a0002c0002t0007g0280 a0002c0002t0008g0267 a0002c0002t0009g0297 a0002c0002t0010g0305 a0002c0002t0012g0293 a0002c0002t0016g0274 a0002c0002t0017g0322 a0002c0002t0024g0335 a0002c0002t0025g0317 a0002c0002t0027g0286 a0002c0002t0028g0311 a0002c0002t0029g0269 a0002c0002t0031g0315 a0002c0002t0032g0007 a0002c0002t0039g0319 a0002c0002t0039g0327 a0002c0002t0044g0329 a0002c0002t0044g0332 a0002c0002t0045g0320 a0002c0002t0049g0247 a0002c0002t0067g0296 a0002c0002t0070g0353 a0002c0002t0071g0290 a0002c0002t0073g0270 a0002c0002t0080g0273 a0002c0002t0086g0321 a0002c0002t0087g0312 a0002c0002t0088g0281 a0002c0002t0101g0292 a0002c0002t0108g0254 a0002c0002t0118g0279 a0002c0002t0122g0334 a0002c0002t0131g0278 a0002c0002t0133g0289 a0002c0002t0136g0271 a0002c0002t0140g0259 a0002c0002t0154g0276 a0002c0002t0166g0255 a0002c0002t0173g0006 a0002c0002t0174g0006 a0002c0002t0186g0295 a0002c0002t0188g0303 a0002c0002t0198g0318 a0002c0002t0211g0266 a0002c0002t0214g0262 a0002c0002t0215g0307 a0002c0002t0216g0306 a0002c0002t0219g0328 a0002c0002t0222g0298 a0002c0002t0232g0331 a0002c0002t0234g0330 a0002c0002t0238g0240 a0002c0002t0239g0309 a0002c0002t0241g0294 a0002c0002t0243g0300 a0002c0002t0257g0324 a0002c0002t0258g0252 a0002c0002t0260g0261 a0002c0002t0261g0299 a0002c0002t0263g0246 a0002c0002t0265g0245 a0002c0002t0267g0333 a0002c0003t0030g0258 a0002c0010t0072g0263 a0002c0010t0148g0268 a0002c0010t0172g0264 a0007c0007t0033g0351 a0010c0012t0095g0283 a0011c0013t0048g0257 a0015c0018t0017g0304 a0016c0020t0213g0272 a0017c0021t0004g0323	80	372	0.2151	-6	c.516 others(23): Show c.516+7613_516+7618delTGGGAA	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	3/15			chr7	TogoVar
SCIN_chr7_12565720_12665182	12588834	TGGGAAG TGGGAAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG00741.hp2 others(14): Show HG00099.hp1 HG00597.hp2 HG00741.hp2 HG01255.hp2 HG01496.hp2 HG01978.hp1 HG02809.hp2 HG02896.hp1 HG02922.hp2 NA18949.hp2 NA18954.hp2 NA18964.hp2 NA18968.hp2 NA19000.hp2 NA19009.hp2 NA19088.hp1 NA20129.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0002c0019 others(1): Show a0001c0001 a0002c0003 a0002c0019 a0004c0005	a0001c0001t0009 a0001c0001t0021 a0001c0001t0036 others(14): Show a0001c0001t0009 a0001c0001t0021 a0001c0001t0036 a0001c0001t0105 a0001c0001t0143 a0001c0001t0199 a0001c0001t0230 a0001c0001t0262 a0002c0003t0059 a0002c0003t0060 a0002c0003t0061 a0002c0003t0062 a0002c0003t0065 a0002c0019t0066 a0004c0005t0003 a0004c0005t0041 a0004c0005t0051	a0001c0001t0009g0009 a0001c0001t0021g0033 a0001c0001t0036g0011 others(14): Show a0001c0001t0009g0009 a0001c0001t0021g0033 a0001c0001t0036g0011 a0001c0001t0105g0038 a0001c0001t0143g0048 a0001c0001t0199g0017 a0001c0001t0230g0010 a0001c0001t0262g0012 a0002c0003t0059g0361 a0002c0003t0060g0362 a0002c0003t0061g0363 a0002c0003t0062g0357 a0002c0003t0065g0358 a0002c0019t0066g0355 a0004c0005t0003g0220 a0004c0005t0041g0081 a0004c0005t0051g0347	17	372	0.0457	-6	c.516 others(23): Show c.516+7617_516+7622delAAGGGG	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12628032	CGTGTGT CGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp1 HG02622.hp2 others(9): Show HG02257.hp1 HG02572.hp1 HG02622.hp2 HG02717.hp2 HG02970.hp1 HG03139.hp2 HG03239.hp1 HG03486.hp1 HG03654.hp2 HG04199.hp2 NA19004.hp1 NA19240.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0002c0003 a0002c0014 others(2): Show a0001c0001 a0002c0003 a0002c0014 a0005c0008 a0008c0009	a0001c0001t0074 a0001c0001t0206 a0001c0001t0274 others(8): Show a0001c0001t0074 a0001c0001t0206 a0001c0001t0274 a0002c0003t0003 a0002c0003t0014 a0002c0003t0015 a0002c0003t0191 a0002c0014t0091 a0002c0014t0273 a0005c0008t0002 a0008c0009t0224	a0001c0001t0074g0131 a0001c0001t0206g0108 a0001c0001t0274g0202 others(9): Show a0001c0001t0074g0131 a0001c0001t0206g0108 a0001c0001t0274g0202 a0002c0003t0003g0233 a0002c0003t0014g0249 a0002c0003t0015g0231 a0002c0003t0015g0232 a0002c0003t0191g0230 a0002c0014t0091g0059 a0002c0014t0273g0058 a0005c0008t0002g0118 a0008c0009t0224g0244	12	372	0.0323	-6	c.119 others(25): Show c.1198-1040_1198-1035delGTGTGT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCLT1_chr4_128878993_129098539	128894363	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG00738.hp1 others(46): Show HG00639.hp2 HG00735.hp1 HG00738.hp1 HG01081.hp1 HG01168.hp1 HG01169.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01516.hp2 HG01934.hp1 HG01978.hp2 HG02040.hp1 HG02056.hp1 HG02280.hp2 HG02602.hp2 HG02886.hp2 HG03017.hp2 HG03490.hp2 HG03491.hp2 NA18947.hp2 NA18950.hp1 NA18954.hp1 NA18956.hp1 NA18961.hp2 NA18963.hp1 NA18965.hp2 NA18971.hp2 NA18973.hp2 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18990.hp1 NA18995.hp1 NA19000.hp2 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19064.hp1 NA19070.hp1 NA19077.hp1 NA19078.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0011 others(4): Show a0001c0001 a0001c0002 a0001c0011 a0002c0003 a0002c0007 a0003c0005 a0004c0014	a0001c0001t0001 a0001c0002t0001 a0001c0011t0010 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0011t0010 a0002c0003t0001 a0002c0003t0002 a0002c0007t0001 a0003c0005t0001 a0004c0014t0002	a0001c0001t0001g0267 a0001c0002t0001g0274 a0001c0011t0010g0284 others(46): Show a0001c0001t0001g0267 a0001c0002t0001g0274 a0001c0011t0010g0284 a0002c0003t0001g0122 a0002c0003t0001g0124 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0128 a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0144 a0002c0003t0001g0145 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0157 a0002c0003t0001g0159 a0002c0003t0001g0165 a0002c0003t0001g0170 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0199 a0002c0003t0002g0008 a0002c0003t0002g0009 a0002c0003t0002g0010 a0002c0003t0002g0011 a0002c0003t0002g0013 a0002c0003t0002g0014 a0002c0003t0002g0015 a0002c0007t0001g0115 a0003c0005t0001g0141 a0003c0005t0001g0142 a0003c0005t0001g0149 a0003c0005t0001g0150 a0003c0005t0001g0151 a0003c0005t0001g0153 a0003c0005t0001g0161 a0003c0005t0001g0174 a0003c0005t0001g0175 a0004c0014t0002g0007	49	288	0.1701	-6	c.183 others(25): Show c.1830-3232_1830-3227delGTGTGT	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	18/20			chr4	TogoVar
SCLT1_chr4_128878993_129098539	128911191	GGGAGGC GGGAGGC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01168.hp2 HG01169.hp2 others(2): Show HG01167.hp1 HG01168.hp2 HG01169.hp2 HG03130.hp2 NA18522.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0002c0006 a0002c0009 others(1): Show a0001c0002 a0002c0006 a0002c0009 a0006c0012	a0001c0002t0001 a0002c0006t0001 a0002c0009t0001 others(1): Show a0001c0002t0001 a0002c0006t0001 a0002c0009t0001 a0006c0012t0001	a0001c0002t0001g0272 a0002c0006t0001g0182 a0002c0006t0001g0183 others(2): Show a0001c0002t0001g0272 a0002c0006t0001g0182 a0002c0006t0001g0183 a0002c0009t0001g0184 a0006c0012t0001g0033	5	288	0.0174	-6	c.183 others(27): Show c.1830-20060_1830-20055delGCCTCC	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	18/20			chr4	TogoVar
SCLT1_chr4_128878993_129098539	129039898	GCGCACA GCGCACA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(74): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00639.hp1 HG00642.hp2 HG01070.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02080.hp2 HG02273.hp2 HG02523.hp2 HG02630.hp1 HG02723.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03490.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp2 NA18747.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18954.hp2 NA18965.hp1 NA18970.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18990.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19003.hp1 NA19005.hp2 NA19010.hp1 NA19012.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0008 a0002c0003 others(1): Show a0001c0001 a0001c0008 a0002c0003 a0005c0013	a0001c0001t0001 a0001c0008t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0008t0001 a0002c0003t0001 a0005c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(71): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0123 a0001c0001t0001g0140 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0008t0001g0198 a0001c0008t0001g0214 a0002c0003t0001g0208 a0005c0013t0001g0211	77	288	0.2674	-6	c.235 others(21): Show c.235-808_235-803delTGTGCG	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	4/20			chr4	TogoVar
SCLT1_chr4_128878993_129098539	129039900	GCACACA GCACACA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02056.hp1 HG02080.hp1 others(20): Show HG00280.hp1 HG02056.hp1 HG02080.hp1 HG02602.hp1 HG02818.hp1 HG03491.hp1 HG03540.hp1 NA18943.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp1 NA18963.hp2 NA18973.hp2 NA18980.hp1 NA18990.hp1 NA19000.hp2 NA19003.hp2 NA19011.hp1 NA19056.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0247 a0001c0002t0001g0040 a0001c0002t0001g0043 others(20): Show a0001c0001t0001g0247 a0001c0002t0001g0040 a0001c0002t0001g0043 a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0093 a0001c0002t0001g0101 a0002c0003t0001g0122 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0128 a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0136 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0155 a0002c0003t0001g0157 a0002c0003t0001g0167 a0002c0003t0001g0168	23	288	0.0799	-6	c.235 others(21): Show c.235-810_235-805delTGTGTG	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	4/20			chr4	TogoVar
SCLT1_chr4_128878993_129098539	129086313	GTATATA GTATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01074.hp2 others(21): Show HG00140.hp2 HG00735.hp2 HG01074.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01943.hp1 HG02258.hp1 HG02698.hp2 HG02896.hp2 HG02897.hp1 HG03486.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18941.hp1 NA18948.hp2 NA19011.hp2 NA19063.hp1 NA19240.hp1 NA20805.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0006c0012	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0004t0001 a0001c0004t0006 a0002c0003t0001 a0006c0012t0001	a0001c0001t0001g0016 a0001c0001t0001g0256 a0001c0001t0003g0001 others(20): Show a0001c0001t0001g0016 a0001c0001t0001g0256 a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0002t0001g0038 a0001c0004t0001g0017 a0001c0004t0001g0018 a0001c0004t0001g0019 a0001c0004t0001g0020 a0001c0004t0001g0021 a0001c0004t0001g0022 a0001c0004t0001g0023 a0001c0004t0001g0024 a0001c0004t0001g0025 a0001c0004t0001g0026 a0001c0004t0001g0027 a0001c0004t0001g0028 a0001c0004t0001g0029 a0001c0004t0001g0031 a0001c0004t0006g0030 a0002c0003t0001g0178 a0006c0012t0001g0033	24	288	0.0833	-6	c.35- others(21): Show c.35-3946_35-3941delTATATA	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	1/20			chr4	TogoVar
SCLY_chr2_238056001_238104413	238060579	GCGGCCC GCGGCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01167.hp2 HG01169.hp1 others(18): Show HG01081.hp1 HG01167.hp2 HG01169.hp1 HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02258.hp1 HG02451.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02897.hp2 HG03098.hp1 HG03139.hp1 HG03225.hp1 HG03486.hp1 HG03516.hp2 NA18522.hp1 NA19240.hp1 NA19240.hp2	a0003 a0003	a0003c0006 a0003c0008 a0003c0018 a0003c0006 a0003c0008 a0003c0018	a0003c0006t0007 a0003c0006t0059 a0003c0006t0155 others(4): Show a0003c0006t0007 a0003c0006t0059 a0003c0006t0155 a0003c0008t0020 a0003c0008t0030 a0003c0008t0056 a0003c0018t0030	a0003c0006t0007g0037 a0003c0006t0007g0294 a0003c0006t0007g0295 others(14): Show a0003c0006t0007g0037 a0003c0006t0007g0294 a0003c0006t0007g0295 a0003c0006t0007g0296 a0003c0006t0007g0297 a0003c0006t0007g0298 a0003c0006t0007g0299 a0003c0006t0007g0300 a0003c0006t0059g0038 a0003c0006t0155g0301 a0003c0008t0020g0018 a0003c0008t0020g0293 a0003c0008t0030g0039 a0003c0008t0030g0292 a0003c0008t0056g0290 a0003c0008t0056g0291 a0003c0018t0030g0039	21	392	0.0536	-6	c.-47 others(15): Show c.-475_-470delCGGCCC	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding		421		chr2	TogoVar
SCLY_chr2_238056001_238104413	238076733	AAAAAAG AAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG02451.hp2 others(9): Show HG02055.hp2 HG02258.hp1 HG02451.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02897.hp2 HG03098.hp1 HG03225.hp1 HG03486.hp1 HG03516.hp2 NA19240.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0007 a0003c0006t0059 a0003c0006t0155 a0003c0006t0007 a0003c0006t0059 a0003c0006t0155	a0003c0006t0007g0037 a0003c0006t0007g0294 a0003c0006t0007g0295 others(7): Show a0003c0006t0007g0037 a0003c0006t0007g0294 a0003c0006t0007g0295 a0003c0006t0007g0296 a0003c0006t0007g0297 a0003c0006t0007g0298 a0003c0006t0007g0299 a0003c0006t0007g0300 a0003c0006t0059g0038 a0003c0006t0155g0301	12	392	0.0306	-6	c.485 others(23): Show c.485-4974_485-4969delAAAAGA	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238103434	AAAGAAG AAAGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00558.hp2 others(141): Show HG00140.hp1 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG01069.hp1 HG01099.hp1 HG01109.hp2 HG01175.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0010	a0001c0001 a0001c0003 a0002c0002 others(5): Show a0001c0001 a0001c0003 a0002c0002 a0002c0014 a0003c0006 a0004c0007 a0008c0015 a0010c0017	a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 others(56): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0054 a0001c0001t0062 a0001c0001t0080 a0001c0001t0081 a0001c0001t0095 a0001c0001t0100 a0001c0001t0106 a0001c0001t0109 a0001c0001t0110 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0119 a0001c0001t0176 a0001c0003t0003 a0001c0003t0006 a0001c0003t0009 a0001c0003t0011 a0001c0003t0027 a0001c0003t0028 a0001c0003t0052 a0001c0003t0053 a0001c0003t0055 a0001c0003t0137 a0001c0003t0138 a0001c0003t0139 a0001c0003t0140 a0001c0003t0141 a0001c0003t0142 a0001c0003t0149 a0001c0003t0150 a0001c0003t0153 a0001c0003t0154 a0001c0003t0156 a0002c0002t0039 a0002c0014t0151 a0003c0006t0007 a0003c0006t0013 a0003c0006t0059 a0003c0006t0089 a0003c0006t0099 a0003c0006t0155 a0004c0007t0082 a0008c0015t0103 a0010c0017t0096	a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0027 others(119): Show a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0027 a0001c0001t0004g0087 a0001c0001t0004g0122 a0001c0001t0004g0135 a0001c0001t0004g0152 a0001c0001t0005g0003 a0001c0001t0010g0008 a0001c0001t0010g0139 a0001c0001t0010g0150 a0001c0001t0011g0004 a0001c0001t0011g0136 a0001c0001t0011g0141 a0001c0001t0011g0142 a0001c0001t0015g0071 a0001c0001t0015g0138 a0001c0001t0015g0146 a0001c0001t0015g0149 a0001c0001t0016g0021 a0001c0001t0016g0022 a0001c0001t0018g0004 a0001c0001t0018g0064 a0001c0001t0019g0013 a0001c0001t0019g0077 a0001c0001t0019g0107 a0001c0001t0019g0185 a0001c0001t0025g0074 a0001c0001t0026g0013 a0001c0001t0026g0076 a0001c0001t0029g0014 a0001c0001t0040g0007 a0001c0001t0041g0068 a0001c0001t0041g0069 a0001c0001t0042g0043 a0001c0001t0042g0109 a0001c0001t0054g0189 a0001c0001t0054g0190 a0001c0001t0062g0081 a0001c0001t0080g0145 a0001c0001t0081g0026 a0001c0001t0095g0084 a0001c0001t0100g0137 a0001c0001t0106g0004 a0001c0001t0109g0078 a0001c0001t0110g0140 a0001c0001t0112g0153 a0001c0001t0113g0026 a0001c0001t0114g0086 a0001c0001t0119g0079 a0001c0001t0176g0151 a0001c0003t0003g0015 a0001c0003t0003g0028 a0001c0003t0003g0161 a0001c0003t0003g0162 a0001c0003t0003g0164 a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0167 a0001c0003t0003g0168 a0001c0003t0003g0169 a0001c0003t0003g0171 a0001c0003t0003g0172 a0001c0003t0003g0173 a0001c0003t0003g0183 a0001c0003t0003g0184 a0001c0003t0006g0030 a0001c0003t0006g0124 a0001c0003t0006g0127 a0001c0003t0006g0182 a0001c0003t0006g0186 a0001c0003t0006g0188 a0001c0003t0009g0025 a0001c0003t0009g0120 a0001c0003t0009g0121 a0001c0003t0009g0132 a0001c0003t0009g0133 a0001c0003t0009g0134 a0001c0003t0011g0070 a0001c0003t0027g0178 a0001c0003t0027g0179 a0001c0003t0027g0180 a0001c0003t0028g0029 a0001c0003t0028g0176 a0001c0003t0052g0175 a0001c0003t0052g0177 a0001c0003t0053g0119 a0001c0003t0053g0128 a0001c0003t0055g0117 a0001c0003t0055g0126 a0001c0003t0137g0131 a0001c0003t0138g0154 a0001c0003t0139g0129 a0001c0003t0140g0130 a0001c0003t0141g0144 a0001c0003t0142g0118 a0001c0003t0149g0163 a0001c0003t0150g0170 a0001c0003t0153g0174 a0001c0003t0154g0160 a0001c0003t0156g0143 a0002c0002t0039g0196 a0002c0002t0039g0239 a0002c0014t0151g0203 a0003c0006t0007g0037 a0003c0006t0007g0294 a0003c0006t0007g0295 a0003c0006t0007g0296 a0003c0006t0007g0297 a0003c0006t0007g0298 a0003c0006t0007g0299 a0003c0006t0007g0300 a0003c0006t0013g0017 a0003c0006t0013g0245 a0003c0006t0013g0246 a0003c0006t0059g0038 a0003c0006t0089g0270 a0003c0006t0099g0247 a0003c0006t0155g0301 a0004c0007t0082g0283 a0008c0015t0103g0080 a0010c0017t0096g0255	144	392	0.3674	-6	c.50 others(17): Show c.5080_*5085delAAGAAG	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding		4022		chr2	TogoVar
SCMH1_chr1_41022202_41247306	41041432	TATTATA TATTATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00609.hp2 others(42): Show HG00140.hp1 HG00323.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG01109.hp1 HG01109.hp2 HG01255.hp1 HG01346.hp2 HG01891.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02027.hp1 HG02602.hp1 HG02698.hp2 HG02738.hp2 HG03017.hp2 HG03669.hp1 NA18941.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18967.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18980.hp2 NA18986.hp2 NA18993.hp2 NA18999.hp2 NA19011.hp2 NA19056.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19070.hp2 NA19074.hp1 NA19085.hp1 NA20752.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0005 a0005c0003 a0001c0001 a0003c0005 a0005c0003	a0001c0001t0002 a0001c0001t0006 a0003c0005t0006 others(1): Show a0001c0001t0002 a0001c0001t0006 a0003c0005t0006 a0005c0003t0002	a0001c0001t0002g0007 a0001c0001t0002g0067 a0001c0001t0002g0068 others(42): Show a0001c0001t0002g0007 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0006g0140 a0003c0005t0006g0110 a0005c0003t0002g0102	45	304	0.1480	-6	c.149 others(25): Show c.1499-3897_1499-3892delTATAAT	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	12/15			chr1	TogoVar
SCMH1_chr1_41022202_41247306	41200497	GTAATAA GTAATAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00735.hp1 others(27): Show HG00099.hp2 HG00140.hp2 HG00735.hp1 HG01070.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp1 HG01433.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp2 HG02258.hp1 HG02735.hp2 HG03654.hp2 NA18940.hp2 NA18943.hp1 NA18945.hp2 NA18952.hp2 NA18962.hp2 NA18963.hp1 NA18975.hp1 NA18978.hp1 NA18982.hp2 NA18995.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0112 others(27): Show a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0141	30	304	0.0987	-6	c.-11 others(27): Show c.-117-14253_-117-14248delTTATTA	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	1/15			chr1	TogoVar
SCML1_chrX_17732493_17759985	17737422	GCCCCCC GCCCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00639.hp1 others(75): Show HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01167.hp1 HG01256.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01975.hp1 HG02027.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02451.hp1 HG02622.hp2 HG02698.hp1 HG02818.hp1 HG02922.hp1 HG03041.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03579.hp1 HG03654.hp1 HG03942.hp1 HG04204.hp1 NA18522.hp1 NA18747.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18954.hp1 NA18959.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18974.hp1 NA18977.hp1 NA18983.hp1 NA18988.hp1 NA18989.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19010.hp1 NA19055.hp1 NA19077.hp1 NA19077.hp2 NA19082.hp1 NA19083.hp1 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(30): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0034 a0001c0001t0003g0014 a0001c0001t0004g0001 a0001c0001t0004g0042 a0001c0001t0005g0002 a0001c0001t0006g0002 a0001c0001t0006g0033 a0001c0001t0007g0080 a0001c0001t0010g0072	78	281	0.2776	-6	c.-37 others(15): Show c.-374_-369delCCCCCC	SCML1	ENSG00000047634.15	transcript	ENST00000380041.8	protein_coding		70		chrX	TogoVar
SCML1_chrX_17732493_17759985	17739731	GCTAACT GCTAACT	G G	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	281	0.0036	-6	c.-11 others(25): Show c.-117+2052_-117+2057delCTAACT	SCML1	ENSG00000047634.15	transcript	ENST00000380041.8	protein_coding	1/7			chrX	TogoVar
SCML2_chrX_18234313_18359688	18264431	TTGTGTG TTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG01106.hp1 others(16): Show HG00280.hp1 HG00738.hp1 HG01106.hp1 HG01243.hp1 HG01515.hp1 HG01517.hp2 HG02004.hp1 HG02717.hp1 HG02809.hp2 HG03710.hp1 NA18940.hp1 NA18947.hp1 NA19005.hp1 NA19065.hp1 NA19084.hp2 NA19087.hp1 NA19091.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0099 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0205 a0001c0001t0001g0216	19	247	0.0769	-6	c.948 others(23): Show c.948+1148_948+1153delCACACA	SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	8/14			chrX	TogoVar
SCML2_chrX_18234313_18359688	18311398	CAGAGAG CAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00597.hp1 others(83): Show HG00323.hp2 HG00544.hp1 HG00597.hp1 HG00673.hp1 HG00733.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01358.hp1 HG01361.hp1 HG01517.hp1 HG01884.hp2 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02109.hp2 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02738.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp2 HG03704.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18747.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18992.hp1 NA18994.hp1 NA18999.hp1 NA19001.hp1 NA19007.hp1 NA19010.hp1 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0003c0005t0002	a0001c0001t0001g0164 a0001c0001t0001g0225 a0001c0001t0001g0235 others(83): Show a0001c0001t0001g0164 a0001c0001t0001g0225 a0001c0001t0001g0235 a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0147 a0001c0002t0002g0005 a0003c0005t0002g0004	86	247	0.3482	-6	c.487 others(23): Show c.487-6189_487-6184delCTCTCT	SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	6/14			chrX	TogoVar
SCML2_chrX_18234313_18359688	18312978	CGTGTGT CGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0220 a0001c0002t0001g0221	2	247	0.0081	-6	c.486 others(23): Show c.486+7348_486+7353delACACAC	SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	6/14			chrX	TogoVar
SCML2_chrX_18234313_18359688	18313002	TGTGTGC TGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19064.hp2 HG03225.hp1 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0001c0002 a0002c0007	a0001c0002t0001 a0002c0007t0001 a0001c0002t0001 a0002c0007t0001	a0001c0002t0001g0023 a0002c0007t0001g0219 a0001c0002t0001g0023 a0002c0007t0001g0219	2	247	0.0081	-6	c.486 others(23): Show c.486+7324_486+7329delGCACAC	SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	6/14			chrX	TogoVar
SCML4_chr6_107697154_107829313	107717143	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00544.hp1 others(80): Show HG00140.hp1 HG00140.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp2 HG01069.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02486.hp1 HG02602.hp2 HG02698.hp1 HG02738.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp2 HG03209.hp2 HG03225.hp2 HG03492.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 NA18747.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18965.hp1 NA18973.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18987.hp1 NA18992.hp2 NA18994.hp2 NA19054.hp2 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19076.hp2 NA19084.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0002c0004 others(2): Show a0001c0001 a0001c0005 a0002c0004 a0002c0014 a0004c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0023 a0001c0005t0018 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0005 a0002c0004t0006 a0002c0004t0009 a0002c0004t0020 a0002c0004t0028 a0002c0014t0011 a0004c0013t0006	a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0093 others(80): Show a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0093 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0003g0006 a0001c0001t0003g0012 a0001c0001t0003g0014 a0001c0001t0003g0021 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0043 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0080 a0001c0001t0003g0085 a0001c0001t0003g0092 a0001c0001t0003g0126 a0001c0001t0003g0189 a0001c0001t0004g0172 a0001c0001t0004g0188 a0001c0001t0004g0191 a0001c0001t0004g0196 a0001c0001t0004g0201 a0001c0001t0004g0204 a0001c0001t0004g0208 a0001c0001t0004g0215 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0222 a0001c0001t0004g0246 a0001c0001t0006g0022 a0001c0001t0006g0025 a0001c0001t0006g0053 a0001c0001t0006g0059 a0001c0001t0006g0077 a0001c0001t0006g0094 a0001c0001t0006g0101 a0001c0001t0006g0103 a0001c0001t0006g0115 a0001c0001t0006g0157 a0001c0001t0014g0009 a0001c0001t0014g0125 a0001c0001t0014g0128 a0001c0001t0023g0112 a0001c0005t0018g0205 a0002c0004t0002g0237 a0002c0004t0003g0034 a0002c0004t0003g0090 a0002c0004t0004g0184 a0002c0004t0004g0225 a0002c0004t0004g0236 a0002c0004t0005g0241 a0002c0004t0006g0028 a0002c0004t0009g0095 a0002c0004t0009g0096 a0002c0004t0009g0175 a0002c0004t0020g0243 a0002c0004t0028g0086 a0002c0014t0011g0027 a0004c0013t0006g0037	83	250	0.3320	-6	c.973 others(23): Show c.973+3554_973+3559delTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	6/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107754324	CATGGGA CATGGGA	C C	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp2 NA19076.hp1 others(1): Show NA18942.hp1 NA18942.hp2 NA19076.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0023 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0023 a0001c0002t0005	a0001c0001t0002g0206 a0001c0001t0004g0233 a0001c0001t0023g0112 others(1): Show a0001c0001t0002g0206 a0001c0001t0004g0233 a0001c0001t0023g0112 a0001c0002t0005g0174	4	250	0.0160	-6	c.157 others(23): Show c.157-4517_157-4512delTCCCAT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	2/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107802683	TCCCTCC TCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp1 others(170): Show HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18957.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp2 NA18988.hp1 NA18992.hp2 NA18994.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0002c0004 a0002c0006 a0002c0007 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0003t0007 a0001c0003t0012 a0001c0003t0015 a0001c0003t0016 a0001c0005t0005 a0001c0005t0011 a0001c0005t0017 a0001c0005t0018 a0001c0008t0001 a0001c0008t0008 a0001c0009t0006 a0001c0010t0007 a0001c0011t0001 a0001c0012t0002 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0005 a0002c0004t0009 a0002c0004t0020 a0002c0004t0028 a0002c0006t0005 a0002c0006t0009 a0002c0007t0007 a0004c0013t0006	a0001c0001t0001g0010 a0001c0001t0001g0064 a0001c0001t0001g0070 others(170): Show a0001c0001t0001g0010 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0152 a0001c0001t0001g0170 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0093 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0221 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0242 a0001c0001t0003g0006 a0001c0001t0003g0038 a0001c0001t0003g0043 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0085 a0001c0001t0003g0092 a0001c0001t0003g0126 a0001c0001t0003g0189 a0001c0001t0004g0054 a0001c0001t0004g0110 a0001c0001t0004g0172 a0001c0001t0004g0186 a0001c0001t0004g0188 a0001c0001t0004g0191 a0001c0001t0004g0196 a0001c0001t0004g0204 a0001c0001t0004g0208 a0001c0001t0004g0215 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0222 a0001c0001t0004g0233 a0001c0001t0004g0246 a0001c0001t0005g0193 a0001c0001t0006g0046 a0001c0001t0006g0053 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0071 a0001c0001t0006g0094 a0001c0001t0006g0101 a0001c0001t0006g0103 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0122 a0001c0001t0006g0157 a0001c0001t0008g0169 a0001c0001t0008g0176 a0001c0001t0008g0183 a0001c0001t0008g0190 a0001c0001t0008g0203 a0001c0001t0008g0213 a0001c0001t0008g0223 a0001c0001t0008g0226 a0001c0001t0008g0229 a0001c0001t0008g0239 a0001c0001t0008g0244 a0001c0001t0010g0083 a0001c0001t0010g0084 a0001c0001t0013g0011 a0001c0001t0013g0050 a0001c0001t0013g0118 a0001c0001t0013g0120 a0001c0001t0013g0124 a0001c0001t0014g0009 a0001c0001t0014g0042 a0001c0001t0014g0125 a0001c0001t0023g0112 a0001c0001t0024g0088 a0001c0001t0025g0119 a0001c0001t0027g0143 a0001c0002t0001g0087 a0001c0002t0001g0113 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0002g0247 a0001c0002t0005g0165 a0001c0002t0005g0174 a0001c0002t0005g0180 a0001c0002t0005g0182 a0001c0002t0005g0192 a0001c0002t0005g0197 a0001c0002t0005g0200 a0001c0002t0005g0209 a0001c0002t0005g0210 a0001c0002t0005g0216 a0001c0002t0005g0217 a0001c0002t0005g0230 a0001c0002t0005g0238 a0001c0002t0005g0245 a0001c0002t0005g0248 a0001c0002t0008g0002 a0001c0002t0009g0067 a0001c0002t0009g0089 a0001c0002t0009g0104 a0001c0002t0010g0008 a0001c0002t0010g0049 a0001c0003t0007g0047 a0001c0003t0007g0048 a0001c0003t0007g0051 a0001c0003t0007g0100 a0001c0003t0007g0121 a0001c0003t0007g0142 a0001c0003t0012g0107 a0001c0003t0012g0144 a0001c0003t0015g0123 a0001c0003t0016g0007 a0001c0003t0016g0052 a0001c0003t0016g0220 a0001c0005t0005g0181 a0001c0005t0011g0061 a0001c0005t0011g0098 a0001c0005t0011g0099 a0001c0005t0011g0102 a0001c0005t0011g0171 a0001c0005t0017g0195 a0001c0005t0017g0224 a0001c0005t0018g0205 a0001c0005t0018g0212 a0001c0008t0001g0069 a0001c0008t0008g0111 a0001c0009t0006g0063 a0001c0009t0006g0066 a0001c0010t0007g0044 a0001c0011t0001g0072 a0001c0012t0002g0227 a0001c0012t0002g0228 a0002c0004t0002g0237 a0002c0004t0003g0090 a0002c0004t0004g0184 a0002c0004t0004g0225 a0002c0004t0004g0236 a0002c0004t0005g0241 a0002c0004t0009g0095 a0002c0004t0009g0096 a0002c0004t0020g0243 a0002c0004t0028g0086 a0002c0006t0005g0179 a0002c0006t0005g0249 a0002c0006t0009g0041 a0002c0006t0009g0240 a0002c0007t0007g0040 a0004c0013t0006g0037	173	250	0.6920	-6	c.-60 others(25): Show c.-60+21437_-60+21442delGGAGGG	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107813419	TATATAA TATATAA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01433.hp2 HG01891.hp2 others(10): Show HG01346.hp2 HG01433.hp2 HG01891.hp2 HG02132.hp1 HG02145.hp1 HG02280.hp1 HG02976.hp1 HG03195.hp2 HG04199.hp2 NA18747.hp1 NA19054.hp1 NA19062.hp1 NA19084.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0002c0006 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0005 a0001c0003t0007 a0001c0003t0012 a0001c0003t0016 a0002c0004t0001 a0002c0004t0003 a0002c0006t0009 a0004c0013t0006	a0001c0001t0001g0070 a0001c0001t0002g0231 a0001c0001t0003g0021 others(10): Show a0001c0001t0001g0070 a0001c0001t0002g0231 a0001c0001t0003g0021 a0001c0001t0006g0022 a0001c0001t0006g0071 a0001c0002t0005g0217 a0001c0003t0007g0142 a0001c0003t0012g0144 a0001c0003t0016g0220 a0002c0004t0001g0020 a0002c0004t0003g0034 a0002c0006t0009g0023 a0004c0013t0006g0037	13	250	0.0520	-6	c.-60 others(25): Show c.-60+10701_-60+10706delTTATAT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107817630	AAAAAAG AAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG00735.hp2 others(35): Show HG00621.hp1 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp2 HG01978.hp2 HG02004.hp2 HG02258.hp1 HG02486.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp2 NA18949.hp1 NA18950.hp2 NA18957.hp1 NA18967.hp1 NA18971.hp2 NA18994.hp1 NA19043.hp1 NA19077.hp2 NA19084.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0024 a0001c0001t0025 a0001c0002t0001 a0001c0002t0009 a0001c0003t0007 a0001c0003t0012 a0001c0005t0011 a0001c0008t0008 a0002c0004t0003 a0002c0004t0009 a0002c0004t0028	a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0097 others(35): Show a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0002g0093 a0001c0001t0003g0085 a0001c0001t0003g0092 a0001c0001t0004g0110 a0001c0001t0006g0094 a0001c0001t0006g0101 a0001c0001t0006g0103 a0001c0001t0006g0116 a0001c0001t0010g0083 a0001c0001t0010g0084 a0001c0001t0013g0118 a0001c0001t0013g0120 a0001c0001t0013g0124 a0001c0001t0014g0125 a0001c0001t0024g0088 a0001c0001t0025g0119 a0001c0002t0001g0087 a0001c0002t0001g0106 a0001c0002t0001g0108 a0001c0002t0009g0089 a0001c0002t0009g0104 a0001c0003t0007g0100 a0001c0003t0007g0121 a0001c0003t0012g0107 a0001c0005t0011g0098 a0001c0005t0011g0099 a0001c0005t0011g0102 a0001c0008t0008g0111 a0002c0004t0003g0090 a0002c0004t0009g0095 a0002c0004t0009g0096 a0002c0004t0028g0086	38	250	0.1520	-6	c.-60 others(23): Show c.-60+6490_-60+6495delCTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107824462	CTGTGTG CTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00642.hp1 others(39): Show HG00140.hp1 HG00544.hp2 HG00642.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01175.hp2 HG01243.hp1 HG01346.hp1 HG01884.hp1 HG01934.hp2 HG02004.hp1 HG02132.hp2 HG02155.hp2 HG02257.hp1 HG02602.hp2 HG02615.hp1 HG02738.hp1 HG02886.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03492.hp1 HG03579.hp2 HG03710.hp2 HG03927.hp1 HG06807.hp2 NA18942.hp2 NA18944.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18964.hp1 NA18977.hp2 NA18984.hp2 NA18985.hp1 NA18994.hp2 NA19056.hp1 NA19084.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0011 a0002c0004 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0029 a0001c0003t0012 a0001c0003t0016 a0001c0008t0001 a0001c0011t0001 a0002c0004t0004 a0002c0004t0005 a0002c0004t0020 a0002c0006t0005 a0002c0006t0009	a0001c0001t0001g0010 a0001c0001t0001g0170 a0001c0001t0002g0167 others(39): Show a0001c0001t0001g0010 a0001c0001t0001g0170 a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0194 a0001c0001t0002g0199 a0001c0001t0002g0207 a0001c0001t0002g0214 a0001c0001t0002g0235 a0001c0001t0002g0242 a0001c0001t0004g0146 a0001c0001t0004g0172 a0001c0001t0004g0186 a0001c0001t0004g0191 a0001c0001t0004g0201 a0001c0001t0004g0204 a0001c0001t0004g0208 a0001c0001t0004g0246 a0001c0001t0008g0183 a0001c0001t0008g0239 a0001c0001t0014g0128 a0001c0002t0005g0165 a0001c0002t0005g0174 a0001c0002t0005g0180 a0001c0002t0005g0182 a0001c0002t0005g0230 a0001c0002t0008g0145 a0001c0002t0010g0129 a0001c0002t0029g0151 a0001c0003t0012g0131 a0001c0003t0012g0133 a0001c0003t0016g0220 a0001c0008t0001g0003 a0001c0011t0001g0004 a0002c0004t0004g0236 a0002c0004t0005g0241 a0002c0004t0020g0243 a0002c0006t0005g0179 a0002c0006t0009g0240	42	250	0.1680	-6	c.-40 others(15): Show c.-402_-397delCACACA	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding		150		chr6	TogoVar
SCN10A_chr3_38691807_38821217	38730664	GATAACA GATAACA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01496.hp2 NA20752.hp1 HG01081.hp1 HG01496.hp2 NA20752.hp1	a0002 a0002	a0002c0001 a0002c0067 a0002c0001 a0002c0067	a0002c0001t0001 a0002c0067t0001 a0002c0001t0001 a0002c0067t0001	a0002c0001t0001g0166 a0002c0001t0001g0169 a0002c0067t0001g0236 a0002c0001t0001g0166 a0002c0001t0001g0169 a0002c0067t0001g0236	3	372	0.0081	-6	c.228 others(25): Show c.2281-1769_2281-1764delTGTTAT	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38741289	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00597.hp1 others(37): Show HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00621.hp1 HG01074.hp2 HG01081.hp2 HG01255.hp1 HG01261.hp1 HG01934.hp2 HG01975.hp2 HG02027.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG03209.hp2 HG03710.hp1 HG04199.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18947.hp1 NA18952.hp2 NA18953.hp2 NA18961.hp1 NA18964.hp1 NA18965.hp2 NA18970.hp2 NA18972.hp2 NA18974.hp1 NA18982.hp2 NA18987.hp1 NA19005.hp1 NA19030.hp1 NA19058.hp2 NA19064.hp1 NA19065.hp2 NA19080.hp2 NA19087.hp2 NA19088.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0030 a0031	a0001c0003 a0001c0007 a0004c0005 others(7): Show a0001c0003 a0001c0007 a0004c0005 a0004c0020 a0004c0033 a0004c0062 a0004c0063 a0005c0011 a0030c0061 a0031c0064	a0001c0003t0001 a0001c0003t0002 a0001c0007t0001 others(9): Show a0001c0003t0001 a0001c0003t0002 a0001c0007t0001 a0004c0005t0001 a0004c0020t0001 a0004c0020t0002 a0004c0033t0001 a0004c0062t0001 a0004c0063t0001 a0005c0011t0001 a0030c0061t0001 a0031c0064t0001	a0001c0003t0001g0061 a0001c0003t0001g0091 a0001c0003t0001g0295 others(37): Show a0001c0003t0001g0061 a0001c0003t0001g0091 a0001c0003t0001g0295 a0001c0003t0001g0297 a0001c0003t0001g0330 a0001c0003t0002g0296 a0001c0003t0002g0311 a0001c0007t0001g0011 a0001c0007t0001g0012 a0001c0007t0001g0157 a0004c0005t0001g0021 a0004c0005t0001g0067 a0004c0005t0001g0068 a0004c0005t0001g0069 a0004c0005t0001g0070 a0004c0005t0001g0073 a0004c0005t0001g0168 a0004c0005t0001g0170 a0004c0005t0001g0172 a0004c0005t0001g0174 a0004c0005t0001g0175 a0004c0005t0001g0186 a0004c0005t0001g0192 a0004c0005t0001g0212 a0004c0005t0001g0213 a0004c0005t0001g0214 a0004c0005t0001g0216 a0004c0005t0001g0217 a0004c0005t0001g0218 a0004c0005t0001g0323 a0004c0020t0001g0167 a0004c0020t0002g0171 a0004c0020t0002g0176 a0004c0033t0001g0165 a0004c0033t0001g0173 a0004c0062t0001g0242 a0004c0063t0001g0314 a0005c0011t0001g0087 a0030c0061t0001g0211 a0031c0064t0001g0237	40	372	0.1075	-6	c.210 others(24): Show c.2106+996_2106+1001delGTGTGT	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	14/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38746063	GTATATA GTATATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp1 HG02976.hp2 others(5): Show HG01891.hp2 HG02559.hp1 HG02976.hp2 HG03486.hp2 NA18961.hp2 NA18979.hp2 NA18981.hp2 NA18998.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0007 a0003c0002 a0001c0003 a0001c0007 a0003c0002	a0001c0003t0001 a0001c0003t0004 a0001c0007t0001 others(2): Show a0001c0003t0001 a0001c0003t0004 a0001c0007t0001 a0001c0007t0005 a0003c0002t0002	a0001c0003t0001g0122 a0001c0003t0004g0120 a0001c0007t0001g0117 others(5): Show a0001c0003t0001g0122 a0001c0003t0004g0120 a0001c0007t0001g0117 a0001c0007t0005g0004 a0003c0002t0002g0054 a0003c0002t0002g0262 a0003c0002t0002g0263 a0003c0002t0002g0264	8	372	0.0215	-6	c.186 others(25): Show c.1868-3540_1868-3535delTATATA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38761837	TGAGAGA TGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG01884.hp1 others(10): Show HG01109.hp1 HG01243.hp2 HG01884.hp1 HG02486.hp1 HG02572.hp2 HG02622.hp1 HG02895.hp1 HG02897.hp1 HG03098.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 NA20129.hp2	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0003 a0001c0007 a0002c0012 others(1): Show a0001c0003 a0001c0007 a0002c0012 a0019c0050	a0001c0003t0002 a0001c0007t0001 a0002c0012t0001 others(1): Show a0001c0003t0002 a0001c0007t0001 a0002c0012t0001 a0019c0050t0001	a0001c0003t0002g0096 a0001c0003t0002g0097 a0001c0003t0002g0098 others(10): Show a0001c0003t0002g0096 a0001c0003t0002g0097 a0001c0003t0002g0098 a0001c0003t0002g0099 a0001c0003t0002g0100 a0001c0003t0002g0102 a0001c0003t0002g0131 a0001c0003t0002g0132 a0001c0007t0001g0049 a0001c0007t0001g0103 a0002c0012t0001g0094 a0002c0012t0001g0095 a0019c0050t0001g0093	13	372	0.0350	-6	c.692 others(21): Show c.692-460_692-455delTCTCTC	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	6/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38772708	GCAACAA GCAACAA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02965.hp2 HG04228.hp1 others(1): Show HG02717.hp2 HG02965.hp2 HG04228.hp1 NA18982.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0003 a0005c0013 a0006c0016 a0001c0003 a0005c0013 a0006c0016	a0001c0003t0001 a0005c0013t0001 a0006c0016t0001 a0001c0003t0001 a0005c0013t0001 a0006c0016t0001	a0001c0003t0001g0077 a0001c0003t0001g0078 a0005c0013t0001g0074 others(1): Show a0001c0003t0001g0077 a0001c0003t0001g0078 a0005c0013t0001g0074 a0006c0016t0001g0051	4	372	0.0108	-6	c.471 others(23): Show c.471-1307_471-1302delTTGTTG	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	4/27			chr3	TogoVar

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