Joint Open Genome and Omics Platform (JoGo)

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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	168907979	T T	TATAGAGA others(15): Show TATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0010 a0013c0027t0010	a0013c0027t0010g0125 a0013c0027t0010g0125	1	34	0.0294	22	c.414 others(41): Show c.414-24644_414-24643insCTCTCTCTCTCTCTCTCTCTAT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168967437	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp2 HG01993.hp1 others(15): Show HG00735.hp2 HG01106.hp2 HG01993.hp1 HG01993.hp2 HG02145.hp2 HG02559.hp2 HG02615.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03486.hp2 HG04115.hp2 NA18970.hp1 NA19005.hp2 NA19043.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0011 a0012	a0001c0001 a0001c0003 a0001c0006 others(13): Show a0001c0001 a0001c0003 a0001c0006 a0001c0014 a0001c0017 a0001c0040 a0001c0048 a0001c0050 a0002c0011 a0002c0012 a0002c0019 a0002c0049 a0003c0056 a0005c0063 a0011c0031 a0012c0022	a0001c0001t0001 a0001c0003t0007 a0001c0003t0015 others(14): Show a0001c0001t0001 a0001c0003t0007 a0001c0003t0015 a0001c0006t0009 a0001c0014t0002 a0001c0017t0001 a0001c0040t0001 a0001c0048t0004 a0001c0050t0020 a0002c0011t0005 a0002c0012t0030 a0002c0019t0001 a0002c0049t0003 a0003c0056t0001 a0005c0063t0002 a0011c0031t0006 a0012c0022t0022	a0001c0001t0001g0006 a0001c0003t0007g0098 a0001c0003t0015g0007 others(15): Show a0001c0001t0001g0006 a0001c0003t0007g0098 a0001c0003t0015g0007 a0001c0006t0009g0113 a0001c0014t0002g0028 a0001c0017t0001g0029 a0001c0040t0001g0093 a0001c0048t0004g0064 a0001c0050t0020g0003 a0002c0011t0005g0065 a0002c0011t0005g0075 a0002c0012t0030g0077 a0002c0019t0001g0011 a0002c0049t0003g0127 a0003c0056t0001g0078 a0005c0063t0002g0036 a0011c0031t0006g0084 a0012c0022t0022g0004	18	27	0.6667	22	c.414 others(41): Show c.414-84102_414-84101insAAAAAAAAAAAAAAAAAAAAAA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168972336	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0114 a0002c0005t0003g0114	1	129	0.0078	22	c.414 others(41): Show c.414-89001_414-89000insACACACACACACACACACACAC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168972337	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01993.hp2 HG02109.hp2 others(7): Show HG01433.hp1 HG01993.hp2 HG02109.hp2 HG02886.hp2 HG03139.hp1 HG03139.hp2 NA18747.hp2 NA19060.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0001c0051 a0002c0002 a0002c0043 a0004c0039	a0001c0001t0001 a0001c0001t0003 a0001c0003t0007 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0007 a0001c0003t0031 a0001c0007t0001 a0001c0051t0012 a0002c0002t0005 a0002c0002t0019 a0002c0043t0027 a0004c0039t0006	a0001c0001t0001g0034 a0001c0001t0003g0110 a0001c0003t0007g0098 others(7): Show a0001c0001t0001g0034 a0001c0001t0003g0110 a0001c0003t0007g0098 a0001c0003t0031g0026 a0001c0007t0001g0040 a0001c0051t0012g0005 a0002c0002t0005g0082 a0002c0002t0019g0105 a0002c0043t0027g0052 a0004c0039t0006g0087	10	13	0.7692	22	c.414 others(41): Show c.414-89023_414-89002dupCACACACACACACACACACACA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	169002322	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0047 a0001c0013t0001g0047	1	42	0.0238	22	c.414 others(43): Show c.414-119008_414-118987dupTTTTTTTTTTTTTTTTTTTTTT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLITRK2_chrX_145812829_145834856	145831841	G G	GACACACA others(15): Show GACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0002	1	31	0.0323	22	c.68 others(33): Show c.6878_*6879insACACACACACACACACACACAC	SLITRK2	ENSG00000185985.11	transcript	ENST00000335565.6	protein_coding		1986		chrX	TogoVar
SLITRK3_chr3_165181720_165201384	165196897	G G	GTCTCTCT others(15): Show GTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG00733.hp1 others(36): Show HG00099.hp2 HG00609.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01928.hp2 HG02015.hp1 HG02040.hp1 HG02080.hp1 HG02148.hp1 HG02293.hp1 HG02559.hp1 HG02698.hp2 HG02897.hp1 HG03492.hp2 HG03579.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp2 NA18612.hp2 NA18939.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp2 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18991.hp2 NA19005.hp1 NA19011.hp1 NA19011.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp2 NA19087.hp2 NA19088.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0005c0008 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0021 a0001c0003t0007 a0001c0003t0013 a0001c0003t0014 a0001c0003t0015 a0001c0003t0042 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0023 a0005c0008t0002 a0006c0009t0002	a0001c0001t0001g0003 a0001c0001t0001g0030 a0001c0001t0002g0001 others(26): Show a0001c0001t0001g0003 a0001c0001t0001g0030 a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0004g0007 a0001c0001t0008g0106 a0001c0001t0011g0017 a0001c0001t0021g0041 a0001c0003t0007g0149 a0001c0003t0013g0033 a0001c0003t0013g0133 a0001c0003t0014g0034 a0001c0003t0015g0148 a0001c0003t0042g0141 a0002c0002t0001g0004 a0002c0002t0001g0077 a0002c0002t0001g0117 a0002c0002t0002g0024 a0002c0002t0004g0044 a0002c0002t0023g0151 a0005c0008t0002g0082 a0006c0009t0002g0108	39	91	0.4286	22	c.-13 others(33): Show c.-1361_-1340dupGAGAGAGAGAGAGAGAGAGAGA	SLITRK3	ENSG00000121871.4	transcript	ENST00000475390.2	protein_coding		514		chr3	TogoVar
SLK_chr10_103962140_104034233	103974655	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0281 a0001c0001t0004g0281	1	96	0.0104	22	c.150 others(39): Show c.150+6773_150+6774insTTTTTTTTTTTTTTTTTTTTTT	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(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01993.hp1 HG02083.hp2 others(4): Show HG00673.hp1 HG01993.hp1 HG02083.hp2 HG04199.hp2 NA18979.hp2 NA19000.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0042 others(4): Show a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0042 a0001c0001t0002g0046 a0001c0001t0002g0058 a0001c0001t0002g0063 a0001c0001t0002g0286	7	69	0.1014	22	c.123 others(41): Show c.1238-1997_1238-1976dupTATATATATATATATATATATA	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57885771	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0111 a0001c0001t0012g0111	1	35	0.0286	22	c.130 others(41): Show c.1301-4261_1301-4240dupTTTTTTTTTTTTTTTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906310	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0225 a0001c0002t0001g0225	1	120	0.0083	22	c.150 others(41): Show c.1502-1573_1502-1552dupTTTTTTTTTTTTTTTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLPI_chr20_45247239_45259564	45258267	T T	TATAGATA others(15): Show TATAGATAGATAGATATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01891.hp2 HG02615.hp2 others(8): Show HG01358.hp1 HG01891.hp2 HG02615.hp2 HG02622.hp2 HG02723.hp1 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03195.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0028 others(2): Show a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0035	11	385	0.0286	22	c.-37 others(33): Show c.-3725_-3724insCTATCTATATCTATCTATCTAT	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3704		chr20	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG04228.hp1 NA18999.hp2 HG00099.hp2 HG04228.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0334 a0001c0001t0002g0343 a0001c0001t0002g0294 a0001c0001t0002g0334 a0001c0001t0002g0343	3	33	0.0909	22	c.299 others(41): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLX9_chr21_44935029_44981973	44978464	G G	GGTGTGGG others(15): Show GGTGTGGGGCGGGTGTGGGGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG04204.hp1 HG04204.hp2 HG03704.hp1 HG04204.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0174 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0174	3	279	0.0108	22	c.16 others(33): Show c.1661_*1662insGTGTGGGGCGGGTGTGGGGCGC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1492		chr21	TogoVar
SLX9_chr21_44935029_44981973	44979460	G G	GTGGAAGG others(15): Show GTGGAAGGACAGCGACAGGTACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02257.hp1 others(11): Show HG01891.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp2 HG02723.hp1 HG02886.hp1 HG02922.hp2 HG03130.hp2 HG03195.hp1 HG03516.hp1 NA19043.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0049 a0001c0001t0001g0132 a0003c0003t0001g0031 others(10): Show a0001c0001t0001g0049 a0001c0001t0001g0132 a0003c0003t0001g0031 a0003c0003t0001g0048 a0003c0003t0001g0053 a0003c0003t0001g0054 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0133	14	332	0.0422	22	c.26 others(33): Show c.2657_*2658insTGGAAGGACAGCGACAGGTACT	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		2488		chr21	TogoVar
SMAD2_chr18_47803957_47935659	47850382	T T	TATTATAC others(15): Show TATTATACATATTATGTATAATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG01943.hp1 others(14): Show HG00544.hp1 HG00609.hp1 HG01943.hp1 HG02071.hp2 HG02132.hp1 HG02135.hp1 NA18954.hp1 NA18960.hp1 NA18970.hp1 NA18984.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0149 others(9): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0157 a0001c0001t0158 a0001c0001t0160 a0001c0001t0166 a0001c0001t0168 a0001c0001t0169 a0001c0001t0171	a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0150 others(14): Show a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0150 a0001c0001t0003g0166 a0001c0001t0008g0125 a0001c0001t0008g0147 a0001c0001t0008g0164 a0001c0001t0149g0132 a0001c0001t0150g0129 a0001c0001t0151g0124 a0001c0001t0157g0128 a0001c0001t0158g0143 a0001c0001t0160g0158 a0001c0001t0166g0155 a0001c0001t0168g0130 a0001c0001t0169g0133 a0001c0001t0171g0172	17	142	0.1197	22	c.784 others(37): Show c.784+891_784+892insTATTATACATAATATGTATAAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47879495	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19004.hp2 NA19002.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0171 a0001c0001t0008 a0001c0001t0171	a0001c0001t0008g0125 a0001c0001t0171g0172 a0001c0001t0008g0125 a0001c0001t0171g0172	2	79	0.0253	22	c.237 others(39): Show c.237-8953_237-8932dupACACACACACACACACACACAC	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18962.hp1 NA18972.hp2 HG02965.hp2 NA18962.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0114 a0001c0001t0127 a0001c0001t0023 a0001c0001t0114 a0001c0001t0127	a0001c0001t0023g0202 a0001c0001t0114g0228 a0001c0001t0127g0224 a0001c0001t0023g0202 a0001c0001t0114g0228 a0001c0001t0127g0224	3	42	0.0714	22	c.237 others(41): Show c.237-11499_237-11478dupAAAAAAAAAAAAAAAAAAAAAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMAD3_chr15_67060602_67200169	67102247	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0056 a0001c0001t0036g0056	1	14	0.0714	22	c.206 others(41): Show c.206+35908_206+35909insTGTGTGTGTGTGTGTGTGTGTG	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(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0302 a0001c0001t0020g0302	1	2	0.5000	22	c.659 others(39): Show c.659-3806_659-3805insTTTTTTTTTTTTTTTTTTTTTT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD4_chr18_51025213_51090042	51073361	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	177	0.0056	22	c.130 others(41): Show c.1309-3270_1309-3249dupTATATATATATATATATATATA	SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMAD4_chr18_51025213_51090042	51073388	T T	TATATATA others(15): Show TATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0034 a0001c0001t0037g0034	1	154	0.0065	22	c.130 others(41): Show c.1309-3249_1309-3248insTATATATATATACACACACACA	SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMAD4_chr18_51025213_51090042	51073388	T T	TATATATA others(15): Show TATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0025 a0001c0001t0006g0025	1	154	0.0065	22	c.130 others(41): Show c.1309-3249_1309-3248insTATATATATATATATACACACA	SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMAD4_chr18_51025213_51090042	51073388	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0030 a0001c0001t0044g0030	1	154	0.0065	22	c.130 others(41): Show c.1309-3249_1309-3248insTATATATATATATATATACACA	SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMAD6_chr15_66697236_66787849	66718111	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02809.hp1 HG02572.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0028 a0001c0001t0016 a0001c0001t0028	a0001c0001t0016g0267 a0001c0001t0028g0268 a0001c0001t0016g0267 a0001c0001t0028g0268	2	118	0.0169	22	c.952 others(39): Show c.952+1632_952+1653dupGTGTGTGTGTGTGTGTGTGTGT	SMAD6	ENSG00000137834.15	transcript	ENST00000288840.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD7_chr18_48914853_48955965	48929569	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02922.hp2 NA19043.hp2 HG02717.hp1 HG02922.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0203 a0001c0001t0002g0089 a0001c0001t0003g0294 a0001c0001t0001g0203 a0001c0001t0002g0089 a0001c0001t0003g0294	3	86	0.0349	22	c.743 others(39): Show c.743-7660_743-7659insTGTGTGTGTGTGTGTGTGTGTG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD7_chr18_48914853_48955965	48929569	T T	TCTCACAC others(15): Show TCTCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18952.hp2 NA18960.hp2 others(2): Show HG03195.hp2 NA18952.hp2 NA18960.hp2 NA18991.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0001t0001 a0001c0001t0002 a0001c0001t0022	a0001c0001t0001g0100 a0001c0001t0001g0336 a0001c0001t0002g0237 others(2): Show a0001c0001t0001g0100 a0001c0001t0001g0336 a0001c0001t0002g0237 a0001c0001t0002g0253 a0001c0001t0022g0271	5	88	0.0568	22	c.743 others(39): Show c.743-7660_743-7659insTGTGTGTGTGTGTGTGTGTGAG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD7_chr18_48914853_48955965	48929569	T T	TCTCTCAC others(15): Show TCTCTCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02083.hp2 NA18988.hp1 others(3): Show HG01257.hp1 HG02083.hp2 NA18988.hp1 NA19007.hp2 NA19012.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0351 a0001c0001t0002g0146 a0001c0002t0001g0125 others(3): Show a0001c0001t0001g0351 a0001c0001t0002g0146 a0001c0002t0001g0125 a0001c0002t0001g0161 a0001c0002t0001g0242 a0001c0002t0001g0314	6	89	0.0674	22	c.743 others(39): Show c.743-7660_743-7659insTGTGTGTGTGTGTGTGTGAGAG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD7_chr18_48914853_48955965	48929569	T T	TCTCTCTC others(15): Show TCTCTCTCACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	84	0.0119	22	c.743 others(39): Show c.743-7660_743-7659insTGTGTGTGTGTGTGTGAGAGAG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD7_chr18_48914853_48955965	48937264	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0168 a0001c0001t0008g0168	1	111	0.0090	22	c.742 others(39): Show c.742+5195_742+5216dupCACACACACACACACACACACA	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD7_chr18_48914853_48955965	48949647	T T	TTCCCAGG others(15): Show TTCCCAGGAGGGTATGCACACTC	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA19010.hp2 HG01255.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0366 a0001c0001t0002g0367 a0001c0001t0001g0366 a0001c0001t0002g0367	2	392	0.0051	22	c.613 others(37): Show c.613+143_613+164dupGAGTGTGCATACCCTCCTGGGA	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	1/3			chr18	TogoVar
SMAD9_chr13_36839831_36925238	36920315	C C	CCCGCCCC others(15): Show CCCGCCCCCGCCCCCGCCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG03942.hp2 HG01106.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0015 a0001c0001t0014 a0001c0001t0015	a0001c0001t0014g0239 a0001c0001t0015g0240 a0001c0001t0014g0239 a0001c0001t0015g0240	2	356	0.0056	22	c.-38 others(31): Show c.-387_-386insCGGCGGGCGGGGGCGGGGGCGG	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding		78		chr13	TogoVar
SMARCA2_chr9_2010347_2198620	2174924	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0190 a0001c0003t0001g0190	1	15	0.0667	22	c.425 others(41): Show c.4253+4459_4253+4480dupAAAAAAAAAAAAAAAAAAAAAA	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	29/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2176182	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0227 a0001c0008t0002g0227	1	187	0.0053	22	c.425 others(41): Show c.4254-5368_4254-5367insTTTTTTTTTTTTTTTTTTTTTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	29/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA4_chr19_10956030_11067273	11061204	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0175 a0001c0021t0001g0175	1	191	0.0052	22	c.491 others(39): Show c.4912-579_4912-578insAAAAAAAATATATATATATATA	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding	34/34		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMARCA4_chr19_10956030_11067273	11064669	A A	ATATTTTT others(15): Show ATATTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0031 a0001c0017t0001g0031	1	177	0.0056	22	c.28 others(33): Show c.2853_*2854insTATTTTTTTTTTTTTTTTTTTT	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding		2397		chr19	TogoVar
SMARCA4_chr19_10956030_11067273	11064669	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG03098.hp2 HG02055.hp1 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0082 a0001c0004t0001g0181 a0001c0004t0001g0082 a0001c0004t0001g0181	2	178	0.0112	22	c.28 others(33): Show c.2853_*2854insTTTTTTTTTTTTTTTTTTTTTT	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding		2397		chr19	TogoVar
SMARCB1_chr22_23781966_23843009	23799679	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0282 a0001c0002t0003g0282	1	60	0.0167	22	c.363 others(39): Show c.363-1263_363-1242dupTTTTTTTTTTTTTTTTTTTTTT	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCB1_chr22_23781966_23843009	23830649	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0082 a0001c0001t0006g0082	1	26	0.0385	22	c.987 others(39): Show c.987-2911_987-2890dupTTTTTTTTTTTTTTTTTTTTTT	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCC1_chr3_47580269_47786893	47600998	T T	TGAGAGAG others(15): Show TGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	7	0.1429	22	c.304 others(41): Show c.3043+9046_3043+9067dupTCTCTCTCTCTCTCTCTCTCTC	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	26/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47600998	T T	TGAGAGAG others(15): Show TGAGAGAGATAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	7	0.1429	22	c.304 others(41): Show c.3043+9067_3043+9068insTCTCTCTCTCTCTATCTCTCTC	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	26/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47749670	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01169.hp2 HG01257.hp2 others(19): Show HG01074.hp2 HG01169.hp2 HG01257.hp2 HG02071.hp2 HG02300.hp1 HG02559.hp1 HG02630.hp2 HG02965.hp2 HG03139.hp1 HG03516.hp2 HG03688.hp1 HG03710.hp1 NA18522.hp1 NA18943.hp1 NA18946.hp2 NA18956.hp2 NA19004.hp1 NA19007.hp2 NA19043.hp2 NA19079.hp2 NA19091.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 a0001c0009t0002	a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 others(19): Show a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0130 a0001c0001t0002g0138 a0001c0001t0002g0161 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0006g0107 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0009t0002g0088	22	49	0.4490	22	c.316 others(39): Show c.316-3678_316-3677insGTGTGTGTGTGTGTGTGTGTGT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	2/27			chr3	TogoVar
SMC1A_chrX_53369149_53427654	53402868	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01243.hp1 HG01358.hp1 others(36): Show HG00438.hp1 HG01243.hp1 HG01358.hp1 HG01891.hp1 HG01891.hp2 HG02015.hp1 HG02056.hp1 HG02080.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02559.hp2 HG02602.hp1 HG02965.hp1 HG03017.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03688.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18942.hp2 NA18945.hp1 NA18951.hp1 NA18965.hp1 NA18970.hp1 NA18971.hp1 NA18984.hp1 NA18990.hp1 NA18994.hp1 NA19000.hp1 NA19011.hp1 NA19030.hp2 NA19058.hp1 NA19067.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017	a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 others(36): Show a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0003g0100 a0001c0001t0003g0124 a0001c0001t0003g0126 a0001c0001t0004g0129 a0001c0001t0006g0121 a0001c0001t0006g0132 a0001c0001t0014g0050 a0001c0001t0016g0066 a0001c0001t0017g0101	39	48	0.8125	22	c.242 others(39): Show c.2420+697_2420+698insTTTTTTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	15/24			chrX	TogoVar
SMC1A_chrX_53369149_53427654	53402885	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA19091.hp1 NA18948.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0054 a0001c0001t0001g0016 a0001c0001t0001g0054	2	208	0.0096	22	c.242 others(39): Show c.2420+680_2420+681insCTTTTTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	15/24			chrX	TogoVar
SMC1A_chrX_53369149_53427654	53410926	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02886.hp1 HG03516.hp1 others(1): Show HG02258.hp1 HG02886.hp1 HG03516.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0117 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0117 a0001c0001t0017g0101	4	75	0.0533	22	c.125 others(39): Show c.1254+834_1254+835insTTTTTTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	7/24			chrX	TogoVar
SMC3_chr10_110562695_110611048	110607292	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01952.hp1 HG02148.hp1 others(10): Show HG00408.hp2 HG01952.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02293.hp2 HG02300.hp2 HG02886.hp2 NA18946.hp2 NA18950.hp2 NA18973.hp2 NA19001.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0002 a0001c0001t0002g0024 a0001c0001t0002g0124 others(6): Show a0001c0001t0002g0002 a0001c0001t0002g0024 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0138 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0010g0026	13	32	0.4063	22	c.29 others(33): Show c.2990_*2991insAAAAAAAAAAAAAAAAAAAAAA	SMC3	ENSG00000108055.11	transcript	ENST00000361804.5	protein_coding		1245		chr10	TogoVar
SMC4_chr3_160394650_160439953	160409265	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0053 a0001c0001t0006g0053	1	126	0.0079	22	c.688 others(39): Show c.688-2649_688-2628dupAAAAAAAAAAAAAAAAAAAAAA	SMC4	ENSG00000113810.16	transcript	ENST00000357388.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr3	TogoVar
SMC4_chr3_160394650_160439953	160425022	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18992.hp1 HG02630.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0002g0073 a0001c0001t0002g0079	2	135	0.0148	22	c.247 others(37): Show c.2478+13_2478+34dupGTGTGTGTGTGTGTGTGTGTGT	SMC4	ENSG00000113810.16	transcript	ENST00000357388.8	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr3	TogoVar
SMC6_chr2_17658812_17758810	17726087	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0186 a0002c0004t0002g0186	1	71	0.0141	22	c.624 others(37): Show c.624+280_624+301dupTTTTTTTTTTTTTTTTTTTTTT	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	8/27			chr2	TogoVar
SMCHD1_chr18_2650726_2810017	2684700	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0155 a0001c0004t0001g0155	1	38	0.0263	22	c.639 others(39): Show c.639-3682_639-3661dupTGTGTGTGTGTGTGTGTGTGTG	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	5/47		INFO_REALIGN_3_PRIME	chr18	TogoVar

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