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
SLIT3_chr5_168656740_169306139	168746821	A A	AGTGTGGT others(11): Show AGTGTGGTGGTATGGTGGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp1 HG01192.hp2 others(23): Show HG00735.hp2 HG01192.hp1 HG01192.hp2 HG01433.hp1 HG01496.hp2 HG01993.hp2 HG02071.hp1 HG02135.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02717.hp1 HG03017.hp1 HG03139.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 NA18747.hp2 NA18970.hp2 NA18974.hp2 NA18989.hp2 NA19012.hp1 NA19056.hp1 NA19060.hp2 NA19066.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0003 a0001c0006 others(13): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0014 a0001c0056 a0001c0060 a0001c0061 a0002c0010 a0002c0044 a0002c0062 a0003c0033 a0003c0058 a0004c0025 a0006c0034	a0001c0001t0001 a0001c0001t0003 a0001c0003t0004 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0004 a0001c0003t0007 a0001c0006t0001 a0001c0007t0002 a0001c0008t0001 a0001c0008t0013 a0001c0014t0002 a0001c0014t0009 a0001c0056t0002 a0001c0060t0009 a0001c0061t0004 a0002c0010t0007 a0002c0044t0028 a0002c0062t0001 a0003c0033t0007 a0003c0058t0001 a0004c0025t0006 a0006c0034t0012	a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(23): Show a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0092 a0001c0001t0003g0099 a0001c0001t0003g0110 a0001c0003t0004g0045 a0001c0003t0007g0098 a0001c0006t0001g0095 a0001c0007t0002g0039 a0001c0008t0001g0058 a0001c0008t0013g0056 a0001c0014t0002g0028 a0001c0014t0009g0121 a0001c0056t0002g0044 a0001c0060t0009g0097 a0001c0061t0004g0027 a0002c0010t0007g0116 a0002c0044t0028g0052 a0002c0062t0001g0057 a0003c0033t0007g0108 a0003c0058t0001g0078 a0004c0025t0006g0013 a0006c0034t0012g0046	26	132	0.1970	18	c.227 others(37): Show c.2270+1480_2270+1481insACCACCATACCACCACAC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168798220	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG02615.hp1 others(4): Show HG01109.hp2 HG02109.hp2 HG02615.hp1 HG02965.hp1 HG03195.hp1 NA18957.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0013 a0002c0055	a0001c0001t0001 a0001c0001t0003 a0001c0003t0016 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0016 a0001c0006t0001 a0001c0006t0015 a0001c0013t0001 a0002c0055t0003	a0001c0001t0001g0006 a0001c0001t0003g0106 a0001c0003t0016g0074 others(4): Show a0001c0001t0001g0006 a0001c0001t0003g0106 a0001c0003t0016g0074 a0001c0006t0001g0040 a0001c0006t0015g0054 a0001c0013t0001g0094 a0002c0055t0003g0123	7	132	0.0530	18	c.936 others(35): Show c.936-2643_936-2642insAAAAAAAAAAAAAAAAAA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	9/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168828658	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0039 a0001c0007t0002g0039	1	132	0.0076	18	c.558 others(35): Show c.558-5328_558-5327insTTTTTTTTTTTTTTTTTT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	6/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168884549	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01496.hp1 HG02015.hp2 others(4): Show HG01081.hp1 HG01496.hp1 HG02015.hp2 HG02965.hp2 NA18522.hp2 NA18989.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0009 a0001c0017 others(4): Show a0001c0004 a0001c0009 a0001c0017 a0001c0053 a0002c0002 a0002c0062 a0002c0063	a0001c0004t0006 a0001c0009t0008 a0001c0017t0001 others(4): Show a0001c0004t0006 a0001c0009t0008 a0001c0017t0001 a0001c0053t0012 a0002c0002t0022 a0002c0062t0001 a0002c0063t0011	a0001c0004t0006g0060 a0001c0009t0008g0071 a0001c0017t0001g0062 others(4): Show a0001c0004t0006g0060 a0001c0009t0008g0071 a0001c0017t0001g0062 a0001c0053t0012g0005 a0002c0002t0022g0038 a0002c0062t0001g0057 a0002c0063t0011g0051	7	132	0.0530	18	c.414 others(35): Show c.414-1231_414-1214dupATATATATATATATATAT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168897646	G G	GCGCGCAC others(11): Show GCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	132	0.0076	18	c.414 others(37): Show c.414-14311_414-14310insTGTGTGTGTGTGTGCGCG	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168897646	G G	GCGTGCAC others(11): Show GCGTGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03927.hp1 HG02622.hp1 HG03927.hp1	a0002 a0002	a0002c0019 a0002c0021 a0002c0019 a0002c0021	a0002c0019t0001 a0002c0021t0002 a0002c0019t0001 a0002c0021t0002	a0002c0019t0001g0009 a0002c0021t0002g0059 a0002c0019t0001g0009 a0002c0021t0002g0059	2	132	0.0152	18	c.414 others(37): Show c.414-14311_414-14310insTGTGTGTGTGTGTGCACG	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168907979	T T	TATATATA others(11): Show TATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA20805.hp1 HG02976.hp2 NA20805.hp1	a0001 a0001	a0001c0009 a0001c0015 a0001c0009 a0001c0015	a0001c0009t0008 a0001c0015t0017 a0001c0009t0008 a0001c0015t0017	a0001c0009t0008g0068 a0001c0015t0017g0089 a0001c0009t0008g0068 a0001c0015t0017g0089	2	132	0.0152	18	c.414 others(37): Show c.414-24644_414-24643insCTCTCTCTCTATATATAT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168952528	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp2 NA20129.hp2 HG02055.hp2 HG02451.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0006 a0001c0020 a0004c0037 a0001c0006 a0001c0020 a0004c0037	a0001c0006t0001 a0001c0020t0001 a0004c0037t0010 a0001c0006t0001 a0001c0020t0001 a0004c0037t0010	a0001c0006t0001g0095 a0001c0020t0001g0073 a0004c0037t0010g0129 a0001c0006t0001g0095 a0001c0020t0001g0073 a0004c0037t0010g0129	3	132	0.0227	18	c.414 others(37): Show c.414-69210_414-69193dupTTTTTTTTTTTTTTTTTT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168972337	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03225.hp1 HG03579.hp1 others(3): Show HG02717.hp2 HG03225.hp1 HG03579.hp1 HG03927.hp1 NA18957.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0006 a0002c0005 others(2): Show a0001c0003 a0001c0006 a0002c0005 a0002c0021 a0002c0045	a0001c0003t0016 a0001c0006t0015 a0002c0005t0003 others(2): Show a0001c0003t0016 a0001c0006t0015 a0002c0005t0003 a0002c0021t0002 a0002c0045t0007	a0001c0003t0016g0074 a0001c0006t0015g0054 a0002c0005t0003g0104 others(3): Show a0001c0003t0016g0074 a0001c0006t0015g0054 a0002c0005t0003g0104 a0002c0005t0003g0128 a0002c0021t0002g0059 a0002c0045t0007g0101	6	132	0.0455	18	c.414 others(37): Show c.414-89019_414-89002dupCACACACACACACACACA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168998893	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0033 a0001c0009t0033	a0001c0009t0033g0103 a0001c0009t0033g0103	1	132	0.0076	18	c.414 others(39): Show c.414-115575_414-115558dupCACACACACACACACACA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	169079810	G G	GAGGAGGA others(11): Show GAGGAGGAGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0098 a0001c0003t0007g0098	1	132	0.0076	18	c.413 others(39): Show c.413+113668_413+113669insTCCCTCCCTCCTCCTCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLITRK2_chrX_145812829_145834856	145821125	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0067 a0001c0001t0008g0067	1	326	0.0031	18	c.-72 others(35): Show c.-729-211_-729-194dupACACACACACACACACAC	SLITRK2	ENSG00000185985.11	transcript	ENST00000335565.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLITRK2_chrX_145812829_145834856	145831841	G G	GACACACA others(11): Show GACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG02257.hp1 others(6): Show HG00544.hp1 HG00544.hp2 HG02257.hp1 HG02735.hp1 HG02809.hp1 HG03927.hp2 NA18978.hp1 NA18981.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 a0001c0003t0002 a0001c0006t0044	a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0001t0008g0067 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0001t0008g0067 a0001c0001t0013g0003 a0001c0003t0002g0031 a0001c0003t0002g0049 a0001c0006t0044g0021	9	326	0.0276	18	c.68 others(29): Show c.6878_*6879insACACACACACACACACAC	SLITRK2	ENSG00000185985.11	transcript	ENST00000335565.6	protein_coding		1986		chrX	TogoVar
SLITRK3_chr3_165181720_165201384	165196897	G G	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00735.hp1 others(41): Show HG00408.hp1 HG00438.hp1 HG00735.hp1 HG01069.hp2 HG01074.hp1 HG01168.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01943.hp1 HG02055.hp1 HG02109.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02622.hp2 HG03492.hp1 HG03654.hp2 NA18747.hp2 NA18906.hp1 NA18943.hp2 NA18955.hp1 NA18957.hp2 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18971.hp2 NA18978.hp2 NA18988.hp1 NA19002.hp1 NA19002.hp2 NA19009.hp2 NA19062.hp1 NA19068.hp2 NA19085.hp1 NA19090.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0024 a0001c0001t0029 a0001c0003t0005 a0001c0003t0007 a0001c0003t0013 a0001c0004t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0018 a0003c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 others(26): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0028 a0001c0001t0001g0102 a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0030 a0001c0001t0002g0059 a0001c0001t0002g0108 a0001c0001t0003g0026 a0001c0001t0004g0005 a0001c0001t0004g0099 a0001c0001t0010g0048 a0001c0001t0011g0017 a0001c0001t0024g0144 a0001c0001t0029g0066 a0001c0003t0005g0013 a0001c0003t0005g0132 a0001c0003t0007g0143 a0001c0003t0013g0032 a0001c0004t0006g0045 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0002g0037 a0002c0002t0006g0082 a0002c0002t0018g0038 a0003c0006t0001g0041	44	414	0.1063	18	c.-13 others(29): Show c.-1357_-1340dupGAGAGAGAGAGAGAGAGA	SLITRK3	ENSG00000121871.4	transcript	ENST00000475390.2	protein_coding		514		chr3	TogoVar
SLITRK3_chr3_165181720_165201384	165196897	G G	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	414	0.0024	18	c.-13 others(29): Show c.-1340_-1339insGACAGAGAGAGAGAGAGA	SLITRK3	ENSG00000121871.4	transcript	ENST00000475390.2	protein_coding		514		chr3	TogoVar
SLITRK5_chr13_87666371_87684616	87679829	A A	ATATATAG others(11): Show ATATATAGTATACATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01192.hp1 others(1): Show HG00323.hp2 HG00741.hp2 HG01192.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0004	4	404	0.0099	18	c.15 others(29): Show c.1564_*1565insTATATAGTATACATATAG	SLITRK5	ENSG00000165300.8	transcript	ENST00000683689.1	protein_coding		214		chr13	TogoVar
SLK_chr10_103962140_104034233	103974655	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(115): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02886.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18945.hp2 NA18949.hp2 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18986.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19076.hp1 NA19079.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0006 a0010 a0013	a0001c0001 a0001c0011 a0001c0017 others(6): Show a0001c0001 a0001c0011 a0001c0017 a0003c0003 a0003c0022 a0004c0005 a0006c0009 a0010c0020 a0013c0016	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(18): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0016 a0001c0001t0020 a0001c0001t0027 a0001c0001t0028 a0001c0011t0006 a0001c0017t0001 a0003c0003t0003 a0003c0003t0010 a0003c0003t0013 a0003c0003t0017 a0003c0022t0003 a0004c0005t0005 a0006c0009t0001 a0010c0020t0003 a0013c0016t0001	a0001c0001t0001g0197 a0001c0001t0001g0216 a0001c0001t0001g0221 others(106): Show a0001c0001t0001g0197 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0004g0016 a0001c0001t0004g0290 a0001c0001t0004g0296 a0001c0001t0004g0301 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0001t0004g0308 a0001c0001t0004g0309 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0333 a0001c0001t0004g0335 a0001c0001t0004g0345 a0001c0001t0006g0139 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0007g0098 a0001c0001t0007g0099 a0001c0001t0007g0101 a0001c0001t0007g0102 a0001c0001t0007g0103 a0001c0001t0007g0104 a0001c0001t0007g0105 a0001c0001t0007g0106 a0001c0001t0007g0107 a0001c0001t0007g0108 a0001c0001t0007g0112 a0001c0001t0008g0347 a0001c0001t0008g0348 a0001c0001t0008g0350 a0001c0001t0011g0113 a0001c0001t0011g0114 a0001c0001t0011g0116 a0001c0001t0016g0270 a0001c0001t0020g0120 a0001c0001t0027g0344 a0001c0001t0028g0100 a0001c0011t0006g0171 a0001c0011t0006g0172 a0001c0017t0001g0239 a0003c0003t0003g0001 a0003c0003t0003g0006 a0003c0003t0003g0007 a0003c0003t0003g0010 a0003c0003t0003g0117 a0003c0003t0003g0118 a0003c0003t0003g0121 a0003c0003t0003g0151 a0003c0003t0003g0162 a0003c0003t0003g0163 a0003c0003t0003g0165 a0003c0003t0003g0167 a0003c0003t0003g0169 a0003c0003t0003g0170 a0003c0003t0003g0173 a0003c0003t0003g0184 a0003c0003t0003g0186 a0003c0003t0003g0187 a0003c0003t0003g0189 a0003c0003t0003g0190 a0003c0003t0003g0191 a0003c0003t0010g0006 a0003c0003t0010g0166 a0003c0003t0010g0185 a0003c0003t0013g0188 a0003c0003t0017g0153 a0003c0022t0003g0168 a0004c0005t0005g0011 a0004c0005t0005g0212 a0004c0005t0005g0213 a0004c0005t0005g0214 a0006c0009t0001g0311 a0010c0020t0003g0164 a0013c0016t0001g0291	118	376	0.3138	18	c.150 others(35): Show c.150+6773_150+6774insTTTTTTTTTTTTTTTTTT	SLK	ENSG00000065613.15	transcript	ENST00000369755.4	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLMAP_chr3_57751309_57935003	57869630	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01106.hp1 HG01516.hp1 others(26): Show HG00609.hp1 HG01106.hp1 HG01516.hp1 HG01928.hp2 HG01943.hp1 HG02027.hp1 HG02293.hp1 HG02300.hp2 HG02559.hp2 HG02809.hp1 HG03017.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp2 HG03669.hp1 HG04115.hp1 NA18939.hp1 NA18949.hp2 NA18950.hp1 NA18957.hp2 NA18982.hp2 NA18999.hp1 NA19007.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp2 NA19058.hp1 NA19080.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0005t0002	a0001c0001t0001g0122 a0001c0001t0001g0289 a0001c0001t0001g0293 others(26): Show a0001c0001t0001g0122 a0001c0001t0001g0289 a0001c0001t0001g0293 a0001c0001t0002g0010 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0040 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0002t0001g0259 a0001c0002t0001g0266 a0001c0002t0002g0070 a0001c0005t0002g0012 a0001c0005t0002g0064	29	310	0.0936	18	c.123 others(37): Show c.1238-1993_1238-1976dupTATATATATATATATATA	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57869660	A A	ATATATAT others(11): Show ATATATATATATATATAAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0071 a0001c0001t0037g0071	1	310	0.0032	18	c.123 others(37): Show c.1238-1976_1238-1975insTATATATATATATATAAT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	13/24			chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906310	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	310	0.0032	18	c.150 others(37): Show c.1502-1569_1502-1552dupTTTTTTTTTTTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18977.hp2 NA18982.hp2 others(3): Show NA18968.hp1 NA18977.hp2 NA18982.hp2 NA18998.hp1 NA19083.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0002 a0001c0001t0002 a0001c0007t0002	a0001c0001t0002g0277 a0001c0001t0002g0280 a0001c0001t0002g0358 others(3): Show a0001c0001t0002g0277 a0001c0001t0002g0280 a0001c0001t0002g0358 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0007t0002g0279	6	386	0.0155	18	c.299 others(37): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLTM_chr15_58874050_58938679	58908002	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	386	0.0026	18	c.561 others(35): Show c.561+4543_561+4560dupACACACACACACACACAC	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	5/20			chr15	TogoVar
SLTM_chr15_58874050_58938679	58922377	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01515.hp1 HG01517.hp2 others(3): Show HG01081.hp1 HG01515.hp1 HG01517.hp2 HG03041.hp2 HG03927.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0074 others(3): Show a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077	6	386	0.0155	18	c.251 others(35): Show c.251-5396_251-5379dupTTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	2/20			chr15	TogoVar
SLURP1_chr8_142735949_142747406	142741697	C C	CCTGCTGC others(11): Show CCTGCTGCCTTTTGGGCCG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	402	0.0025	18	c.178 others(32): Show c.178+88_178+105dupCGGCCCAAAAGGCAGCAG	SLURP1	ENSG00000126233.2	transcript	ENST00000246515.2	protein_coding	2/2			chr8	TogoVar
SLURP2_chr8_142759338_142774828	142762995	T T	TGCCTGGG others(11): Show TGCCTGGGGGTGGAATTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	446	0.0022	18	c.16 others(29): Show c.1609_*1610insCAAATTCCACCCCCAGGC	SLURP2	ENSG00000283992.2	transcript	ENST00000317543.12	protein_coding		1342		chr8	TogoVar
SLX4IP_chr20_10430305_10633030	10512778	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0055 a0004c0004t0055	a0004c0004t0055g0209 a0004c0004t0055g0209	1	266	0.0038	18	c.28- others(35): Show c.28-43426_28-43409dupTATATATATATATATATA	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMAD2_chr18_47803957_47935659	47820896	T T	TACACACA others(11): Show TACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0186 a0001c0001t0186	a0001c0001t0186g0024 a0001c0001t0186g0024	1	310	0.0032	18	c.20 others(31): Show c.20913_*20930dupGTGTGTGTGTGTGTGTGT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	11/11	20930		chr18	TogoVar
SMAD2_chr18_47803957_47935659	47830576	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG03927.hp1 HG02145.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0247 a0001c0002t0252 a0001c0002t0247 a0001c0002t0252	a0001c0002t0247g0014 a0001c0002t0252g0017 a0001c0002t0247g0014 a0001c0002t0252g0017	2	310	0.0065	18	c.11 others(31): Show c.11233_*11250dupTTTTTTTTTTTTTTTTTT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	11/11	11250		chr18	TogoVar
SMAD2_chr18_47803957_47935659	47879495	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03942.hp2 NA18968.hp1 others(2): Show HG00735.hp2 HG03942.hp2 NA18968.hp1 NA18984.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0130 a0001c0001t0212 others(2): Show a0001c0001t0052 a0001c0001t0130 a0001c0001t0212 a0001c0001t0241 a0001c0001t0246	a0001c0001t0052g0277 a0001c0001t0130g0244 a0001c0001t0212g0167 others(2): Show a0001c0001t0052g0277 a0001c0001t0130g0244 a0001c0001t0212g0167 a0001c0001t0241g0137 a0001c0001t0246g0126	5	310	0.0161	18	c.237 others(35): Show c.237-8949_237-8932dupACACACACACACACACAC	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA19240.hp2 NA20752.hp2 HG00642.hp1 NA19240.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0093 a0001c0001t0107 a0001c0001t0091 a0001c0001t0093 a0001c0001t0107	a0001c0001t0091g0210 a0001c0001t0093g0235 a0001c0001t0107g0236 a0001c0001t0091g0210 a0001c0001t0093g0235 a0001c0001t0107g0236	3	310	0.0097	18	c.237 others(37): Show c.237-11495_237-11478dupAAAAAAAAAAAAAAAAAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMAD3_chr15_67060602_67200169	67113076	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02004.hp2 HG02132.hp2 others(5): Show HG01496.hp2 HG02004.hp2 HG02132.hp2 HG02273.hp2 HG03490.hp2 HG04204.hp1 HG04204.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0022 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0022 a0001c0001t0042 a0001c0002t0002	a0001c0001t0001g0111 a0001c0001t0001g0148 a0001c0001t0001g0150 others(5): Show a0001c0001t0001g0111 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0297 a0001c0001t0004g0091 a0001c0001t0022g0159 a0001c0001t0042g0221 a0001c0002t0002g0214	8	310	0.0258	18	c.206 others(37): Show c.206+46718_206+46735dupATATATATATATATATAT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67177422	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02630.hp1 NA19043.hp2 HG02486.hp2 HG02630.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0050 a0001c0001t0007 a0001c0001t0050	a0001c0001t0007g0056 a0001c0001t0007g0281 a0001c0001t0050g0227 a0001c0001t0007g0056 a0001c0001t0007g0281 a0001c0001t0050g0227	3	310	0.0097	18	c.659 others(35): Show c.659-3806_659-3805insTTTTTTTTTTTTTTTTTT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67183031	A A	ATATATTT others(11): Show ATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0165 a0001c0001t0025g0165	1	310	0.0032	18	c.871 others(35): Show c.871+1579_871+1580insATATTTTTTTTTTTTTTT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD4_chr18_51025213_51090042	51073388	T T	TATATATA others(11): Show TATATATATACACACACAC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0220 a0001c0001t0007g0220	1	302	0.0033	18	c.130 others(37): Show c.1309-3249_1309-3248insTATATATACACACACACA	SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMAD5_chr5_136127845_136187733	136183496	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0043	1	294	0.0034	18	c.60 others(29): Show c.6016_*6017insAAAAAAAAAAAAAAAAAA	SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding		764		chr5	TogoVar
SMAD6_chr15_66697236_66787849	66718111	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	336	0.0030	18	c.952 others(35): Show c.952+1636_952+1653dupGTGTGTGTGTGTGTGTGT	SMAD6	ENSG00000137834.15	transcript	ENST00000288840.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD7_chr18_48914853_48955965	48929567	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	398	0.0025	18	c.743 others(35): Show c.743-7658_743-7657insTGTGTGTGTGTGTGTGTG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD7_chr18_48914853_48955965	48929569	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA19030.hp2 HG00738.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0028 a0001c0001t0001 a0001c0011t0028	a0001c0001t0001g0336 a0001c0011t0028g0381 a0001c0001t0001g0336 a0001c0011t0028g0381	2	398	0.0050	18	c.743 others(35): Show c.743-7660_743-7659insTGTGTGTGTGTGTGTGTG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD7_chr18_48914853_48955965	48929569	T T	TCTCACAC others(11): Show TCTCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00609.hp1 others(9): Show HG00423.hp2 HG00558.hp2 HG00609.hp1 HG02056.hp1 HG02523.hp2 HG02698.hp1 HG03669.hp2 HG03834.hp1 NA18961.hp2 NA19065.hp2 NA19081.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0014 a0001c0001 a0001c0002 a0004c0014	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0004c0014t0001	a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0157 others(9): Show a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0157 a0001c0001t0001g0180 a0001c0001t0001g0221 a0001c0001t0001g0285 a0001c0001t0001g0289 a0001c0001t0001g0315 a0001c0001t0001g0351 a0001c0001t0004g0032 a0001c0002t0001g0265 a0004c0014t0001g0374	12	398	0.0302	18	c.743 others(35): Show c.743-7660_743-7659insTGTGTGTGTGTGTGTGAG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD7_chr18_48914853_48955965	48929569	T T	TCTCTCAC others(11): Show TCTCTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01123.hp2 HG02129.hp1 others(4): Show HG01074.hp1 HG01123.hp2 HG02129.hp1 HG02895.hp2 HG02897.hp1 HG04228.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0115 a0001c0001t0001g0131 a0001c0001t0001g0132 others(4): Show a0001c0001t0001g0115 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0317 a0001c0001t0002g0250 a0001c0001t0002g0319 a0001c0001t0007g0040	7	398	0.0176	18	c.743 others(35): Show c.743-7660_743-7659insTGTGTGTGTGTGTGAGAG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD7_chr18_48914853_48955965	48929569	T T	TCTCTCTC others(11): Show TCTCTCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02683.hp1 HG03130.hp1 others(2): Show HG02572.hp1 HG02683.hp1 HG03130.hp1 HG03139.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0198 a0001c0001t0001g0200 others(2): Show a0001c0001t0001g0110 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0282 a0001c0001t0001g0344	5	398	0.0126	18	c.743 others(35): Show c.743-7660_743-7659insTGTGTGTGTGTGAGAGAG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD7_chr18_48914853_48955965	48937264	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA19007.hp2 HG02698.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0061 a0001c0002t0001g0119 a0001c0001t0001g0061 a0001c0002t0001g0119	2	398	0.0050	18	c.742 others(35): Show c.742+5199_742+5216dupCACACACACACACACACA	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD9_chr13_36839831_36925238	36920308	G G	GCCCGCCC others(11): Show GCCCGCCCCCGCCCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 NA20300.hp2 HG02257.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0097 a0001c0001t0033 a0001c0001t0097	a0001c0001t0033g0254 a0001c0001t0097g0233 a0001c0001t0033g0254 a0001c0001t0097g0233	2	358	0.0056	18	c.-38 others(27): Show c.-380_-379insGGCGGGGGCGGGGGCGGG	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding		71		chr13	TogoVar
SMAGP_chr12_51239558_51275415	51270015	G G	GCCCCGCC others(11): Show GCCCCGCCCCCGTCCCCGC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0383 a0001c0001t0002g0383	1	410	0.0024	18	c.-39 others(33): Show c.-39+223_-39+240dupGCGGGGACGGGGGCGGGG	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	1/3			chr12	TogoVar
SMAP1_chr6_70662883_70867003	70729459	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03669.hp2 HG03195.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0177 a0001c0001t0001g0157 a0001c0001t0001g0177	2	306	0.0065	18	c.119 others(35): Show c.119-2901_119-2884dupGTGTGTGTGTGTGTGTGT	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMAP1_chr6_70662883_70867003	70793644	T T	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0110 a0001c0001t0010g0110	1	306	0.0033	18	c.495 others(35): Show c.495+1887_495+1904dupGAGAGAGAGAGAGAGAGA	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMAP1_chr6_70662883_70867003	70855050	T T	TCATATAC others(11): Show TCATATACATATACATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp2 HG01074.hp1 others(38): Show HG00621.hp1 HG00673.hp2 HG01074.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG02040.hp1 HG02486.hp1 HG02559.hp1 HG02647.hp1 HG02723.hp2 HG02886.hp1 HG02895.hp2 HG02976.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03669.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 NA18747.hp1 NA18949.hp1 NA18960.hp2 NA18973.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18999.hp2 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0002c0002t0001 a0002c0002t0002 a0002c0002t0025 a0004c0006t0001	a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0090 others(38): Show a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0117 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0180 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0204 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0069 a0001c0001t0003g0074 a0001c0001t0003g0079 a0001c0001t0003g0124 a0001c0001t0004g0253 a0001c0001t0004g0291 a0001c0001t0004g0297 a0001c0001t0006g0123 a0001c0001t0009g0118 a0001c0001t0015g0130 a0002c0002t0001g0027 a0002c0002t0002g0230 a0002c0002t0002g0248 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0266 a0002c0002t0002g0271 a0002c0002t0002g0273 a0002c0002t0002g0281 a0002c0002t0002g0288 a0002c0002t0025g0251 a0004c0006t0001g0106	41	306	0.1340	18	c.790 others(35): Show c.790-1765_790-1748dupATATACATATACATATAC	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMARCA2_chr9_2010347_2198620	2060118	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0051 a0004c0051	a0004c0051t0002 a0004c0051t0002	a0004c0051t0002g0249 a0004c0051t0002g0249	1	316	0.0032	18	c.152 others(35): Show c.1522-683_1522-666dupAAAAAAAAAAAAAAAAAA	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	8/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA4_chr19_10956030_11067273	11009007	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0011 a0001c0010t0001g0011	1	286	0.0035	18	c.212 others(37): Show c.2123+1001_2123+1018dupTTTTTTTTTTTTTTTTTT	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding	14/34		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMARCA4_chr19_10956030_11067273	11061204	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0267 a0001c0006t0001g0267	1	286	0.0035	18	c.491 others(35): Show c.4912-579_4912-578insAAAAAAAATATATATATA	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding	34/34		INFO_REALIGN_3_PRIME	chr19	TogoVar

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