Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC8A3_chr14_70039215_70193951	70174651	GTTTTTTT others(12): Show GTTTTTTTTTTGTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03654.hp1 HG01071.hp1 HG03654.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0029 a0001c0003t0006 a0001c0003t0029	a0001c0003t0006g0195 a0001c0003t0029g0264 a0001c0003t0006g0195 a0001c0003t0029g0264	2	296	0.0068	-19	c.-62 others(36): Show c.-62-6186_-62-6168delAAAAAAAACAAAAAAAAAA	SLC8A3	ENSG00000100678.20	transcript	ENST00000356921.7	protein_coding	1/6			chr14	TogoVar
SLC9A7_chrX_46594251_46764118	46612924	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02109.hp2 HG02615.hp2 others(6): Show HG01993.hp1 HG02109.hp2 HG02615.hp2 HG02735.hp1 HG03041.hp2 HG03098.hp1 HG04115.hp1 NA19067.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0017 a0001c0001t0030 a0001c0001t0032 others(3): Show a0001c0001t0017 a0001c0001t0030 a0001c0001t0032 a0001c0003t0012 a0001c0003t0031 a0001c0003t0036	a0001c0001t0017g0029 a0001c0001t0017g0131 a0001c0001t0030g0206 others(6): Show a0001c0001t0017g0029 a0001c0001t0017g0131 a0001c0001t0030g0206 a0001c0001t0032g0040 a0001c0003t0012g0140 a0001c0003t0012g0143 a0001c0003t0012g0197 a0001c0003t0031g0141 a0001c0003t0036g0207	9	250	0.0360	-19	c.192 others(36): Show c.1929+346_1929+364delTTTTTTTTTTTTTTTTTTT	SLC9A7	ENSG00000065923.10	transcript	ENST00000616978.5	protein_coding	16/16			chrX	TogoVar
SLC9C1_chr3_112135898_112299216	112168348	CACACACA others(12): Show CACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0193 a0003c0003t0002g0193	1	372	0.0027	-19	c.323 others(36): Show c.3237+510_3237+528delTGTGTGTGTGTGTGTGTGT	SLC9C1	ENSG00000172139.15	transcript	ENST00000305815.10	protein_coding	25/28			chr3	TogoVar
SLCO1C1_chr12_20690332_20758386	20709887	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	296	0.0034	-19	c.405 others(36): Show c.405-1479_405-1461delAAAAAAAAAAAAAAAAAAA	SLCO1C1	ENSG00000139155.9	transcript	ENST00000266509.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLCO1C1_chr12_20690332_20758386	20717648	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	296	0.0034	-19	c.775 others(34): Show c.775+444_775+462delTTTTTTTTTTTTTTTTTTT	SLCO1C1	ENSG00000139155.9	transcript	ENST00000266509.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLCO1C1_chr12_20690332_20758386	20757331	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01106.hp1 HG01175.hp1 others(30): Show HG01081.hp1 HG01106.hp1 HG01175.hp1 HG01255.hp2 HG01361.hp1 HG01891.hp2 HG02015.hp2 HG02056.hp1 HG02148.hp2 HG02155.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02602.hp2 HG02683.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG02895.hp2 HG02970.hp2 HG02976.hp2 HG03139.hp1 HG03471.hp2 HG04204.hp2 HG04228.hp1 NA18951.hp2 NA18960.hp1 NA18999.hp1 NA19003.hp1 NA19074.hp2 NA19081.hp1 NA19088.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0013 others(1): Show a0001c0001 a0001c0003 a0001c0013 a0001c0017	a0001c0001t0001 a0001c0001t0013 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0013 a0001c0003t0001 a0001c0013t0001 a0001c0017t0001	a0001c0001t0001g0009 a0001c0001t0001g0070 a0001c0001t0001g0072 others(30): Show a0001c0001t0001g0009 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0271 a0001c0001t0001g0290 a0001c0001t0013g0142 a0001c0003t0001g0119 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0197 a0001c0003t0001g0239 a0001c0013t0001g0241 a0001c0017t0001g0038	33	296	0.1115	-19	c.48 others(30): Show c.4804_*4822delAAAAAAAAAAAAAAAAAAA	SLCO1C1	ENSG00000139155.9	transcript	ENST00000266509.7	protein_coding		3946		chr12	TogoVar
SLCO3A1_chr15_91848708_92170903	92047186	TATATACA others(12): Show TATATACAAATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0058 a0001c0001t0023g0058	1	190	0.0053	-19	c.647 others(38): Show c.647-47689_647-47671delCAAATATATATATAATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92047401	TATATACA others(12): Show TATATACAAATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	190	0.0053	-19	c.647 others(38): Show c.647-47474_647-47456delCAAATATATATATAATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO5A1_chr8_69662046_69839978	69784876	AAAGAAAG others(12): Show AAAGAAAGAAAGAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0009 a0003c0007t0009	a0003c0007t0009g0002 a0003c0007t0009g0002	1	280	0.0036	-19	c.908 others(38): Show c.908-23020_908-23002delCCTTTCTTCTTTCTTTCTT	SLCO5A1	ENSG00000137571.11	transcript	ENST00000260126.9	protein_coding	2/9			chr8	TogoVar
SLF2_chr10_100907963_100970134	100957330	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0282 a0002c0002t0014g0282	1	330	0.0030	-19	c.341 others(36): Show c.3417+812_3417+830delTTTTTTTTTTTTTTTTTTT	SLF2	ENSG00000119906.13	transcript	ENST00000238961.9	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLFN11_chr17_35345305_35378621	35349332	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0021 a0007c0010t0021	a0007c0010t0021g0184 a0007c0010t0021g0184	1	466	0.0022	-19	c.30 others(30): Show c.3005_*3023delTTTTTTTTTTTTTTTTTTT	SLFN11	ENSG00000172716.17	transcript	ENST00000685675.1	protein_coding		972		chr17	TogoVar
SLFN12L_chr17_35459254_35542678	35530434	GGGAAGGG others(12): Show GGGAAGGGAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0037 a0001c0002t0020g0037	1	360	0.0028	-19	c.-60 others(38): Show c.-606+7120_-606+7138delTCTTTCTTTCTTCCCTTCC	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	1/4			chr17	TogoVar
SLFN12L_chr17_35459254_35542678	35530523	AAAAGAAA others(12): Show AAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0150 a0005c0006t0150	a0005c0006t0150g0090 a0005c0006t0150g0090	1	360	0.0028	-19	c.-60 others(38): Show c.-606+7031_-606+7049delCTTTTCTTTTCTTTTCTTT	SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding	1/4			chr17	TogoVar
SLFN14_chr17_35538985_35565819	35561738	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02818.hp2 HG03516.hp1 others(3): Show HG02717.hp1 HG02818.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 NA21309.hp2	a0006 a0011 a0006 a0011	a0006c0007 a0011c0021 a0006c0007 a0011c0021	a0006c0007t0006 a0006c0007t0026 a0006c0007t0027 others(1): Show a0006c0007t0006 a0006c0007t0026 a0006c0007t0027 a0011c0021t0006	a0006c0007t0006g0025 a0006c0007t0026g0096 a0006c0007t0027g0095 others(1): Show a0006c0007t0006g0025 a0006c0007t0026g0096 a0006c0007t0027g0095 a0011c0021t0006g0094	6	428	0.0140	-19	c.-11 others(30): Show c.-1114_-1096delCTTTCTTTTTTTTTTTTTT	SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding		920		chr17	TogoVar
SLIT1_chr10_96993038_97190959	97108886	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0177 a0001c0015t0001g0177	1	256	0.0039	-19	c.414 others(38): Show c.414-42819_414-42801delTTTTTTTTTTTTTTTTTTT	SLIT1	ENSG00000187122.17	transcript	ENST00000266058.9	protein_coding	4/36			chr10	TogoVar
SLIT2_chr4_20246905_20625561	20291484	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0155 a0001c0002t0028g0155	1	230	0.0044	-19	c.395 others(38): Show c.395+22605_395+22623delATATATATTTTTTTTTTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20291490	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	230	0.0044	-19	c.395 others(38): Show c.395+22611_395+22629delATTTTTTTTTTTTTTTTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20291492	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01175.hp2 HG02300.hp2 others(1): Show HG01167.hp1 HG01175.hp2 HG02300.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0015 a0001c0002t0010 a0001c0001t0003 a0001c0001t0015 a0001c0002t0010	a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0015g0046 others(1): Show a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0015g0046 a0001c0002t0010g0216	4	230	0.0174	-19	c.395 others(38): Show c.395+22624_395+22642delTTTTTTTTTTTTTTTTTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20486823	CTTAAAGC others(12): Show CTTAAAGCCCAGAGTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19030.hp1 HG02572.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0029 a0001c0002t0010 a0001c0002t0029	a0001c0002t0010g0215 a0001c0002t0029g0217 a0001c0002t0010g0215 a0001c0002t0029g0217	2	230	0.0087	-19	c.611 others(34): Show c.611+558_611+576delGCCCAGAGTAGCCTTTAAA	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	7/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20518573	ATATATAT others(12): Show ATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02293.hp1 HG02698.hp1 others(2): Show HG01167.hp2 HG02293.hp1 HG02698.hp1 HG02738.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0006 a0001c0001t0009 a0001c0003t0032 others(2): Show a0001c0001t0006 a0001c0001t0009 a0001c0003t0032 a0001c0004t0002 a0001c0004t0041	a0001c0001t0006g0127 a0001c0001t0009g0151 a0001c0003t0032g0012 others(2): Show a0001c0001t0006g0127 a0001c0001t0009g0151 a0001c0003t0032g0012 a0001c0004t0002g0124 a0001c0004t0041g0073	5	230	0.0217	-19	c.105 others(36): Show c.1059-807_1059-789delATATATATATATATTTTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	11/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20518579	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0034 a0001c0001t0021g0034	1	230	0.0044	-19	c.105 others(36): Show c.1059-801_1059-783delATATATATTTTTTTTTTTT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	11/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT3_chr5_168656740_169306139	168711345	AGGGAGCT others(12): Show AGGGAGCTTCCTGGATCACT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0011 a0001c0038t0011	a0001c0038t0011g0066 a0001c0038t0011g0066	1	132	0.0076	-19	c.255 others(36): Show c.2556-306_2556-288delAGTGATCCAGGAAGCTCCC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	24/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168834686	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	132	0.0076	-19	c.557 others(36): Show c.557+9879_557+9897delTTTTTTTTTTTTTTTTTTT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	6/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168994623	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0038 a0001c0016t0038	a0001c0016t0038g0132 a0001c0016t0038g0132	1	132	0.0076	-19	c.414 others(40): Show c.414-111306_414-111288delAAAAAAAAAAAAAAAAAAA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	169089019	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03486.hp1 HG03130.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0040 a0002c0005 a0001c0040 a0002c0005	a0001c0040t0001 a0002c0005t0001 a0001c0040t0001 a0002c0005t0001	a0001c0040t0001g0093 a0002c0005t0001g0016 a0001c0040t0001g0093 a0002c0005t0001g0016	2	132	0.0152	-19	c.413 others(40): Show c.413+104441_413+104459delTTTTTTTTTTTTTTTTTTT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLMAP_chr3_57751309_57935003	57853956	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03239.hp2 HG02559.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0008 a0001c0001t0004g0088 a0001c0001t0003g0008 a0001c0001t0004g0088	2	310	0.0065	-19	c.520 others(36): Show c.520-3776_520-3758delATATATATATATATATATA	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	6/24			chr3	TogoVar
SLX4IP_chr20_10430305_10633030	10483157	TTGCCCAG others(12): Show TTGCCCAGGCTAGAGTAAAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00597.hp2 others(93): Show HG00099.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02109.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03710.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18906.hp2 NA18943.hp2 NA18946.hp1 NA18951.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp2 NA18972.hp1 NA18977.hp2 NA18979.hp2 NA18985.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19068.hp1 NA19081.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0006 a0001c0011 others(4): Show a0001c0001 a0001c0006 a0001c0011 a0002c0002 a0003c0003 a0004c0004 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0001c0001t0030 a0001c0001t0034 a0001c0001t0035 a0001c0001t0043 a0001c0001t0045 a0001c0001t0048 a0001c0001t0057 a0001c0001t0058 a0001c0006t0024 a0001c0011t0010 a0002c0002t0005 a0002c0002t0032 a0003c0003t0007 a0003c0003t0018 a0004c0004t0027 a0004c0004t0055 a0005c0005t0016	a0001c0001t0001g0113 a0001c0001t0001g0214 a0001c0001t0001g0239 others(93): Show a0001c0001t0001g0113 a0001c0001t0001g0214 a0001c0001t0001g0239 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0016 a0001c0001t0002g0031 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0147 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0194 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0210 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0251 a0001c0001t0002g0259 a0001c0001t0003g0084 a0001c0001t0003g0123 a0001c0001t0003g0131 a0001c0001t0003g0249 a0001c0001t0004g0037 a0001c0001t0004g0068 a0001c0001t0004g0122 a0001c0001t0004g0130 a0001c0001t0004g0182 a0001c0001t0006g0012 a0001c0001t0006g0046 a0001c0001t0006g0048 a0001c0001t0006g0050 a0001c0001t0006g0054 a0001c0001t0006g0215 a0001c0001t0006g0216 a0001c0001t0008g0083 a0001c0001t0009g0052 a0001c0001t0009g0060 a0001c0001t0009g0070 a0001c0001t0009g0161 a0001c0001t0009g0183 a0001c0001t0010g0101 a0001c0001t0010g0148 a0001c0001t0010g0189 a0001c0001t0010g0190 a0001c0001t0012g0058 a0001c0001t0012g0106 a0001c0001t0012g0240 a0001c0001t0012g0241 a0001c0001t0014g0260 a0001c0001t0017g0226 a0001c0001t0018g0142 a0001c0001t0019g0018 a0001c0001t0023g0038 a0001c0001t0025g0246 a0001c0001t0025g0247 a0001c0001t0030g0056 a0001c0001t0034g0053 a0001c0001t0035g0045 a0001c0001t0043g0103 a0001c0001t0045g0085 a0001c0001t0048g0159 a0001c0001t0057g0218 a0001c0001t0058g0121 a0001c0006t0024g0049 a0001c0006t0024g0181 a0001c0011t0010g0225 a0002c0002t0005g0028 a0002c0002t0005g0032 a0002c0002t0005g0078 a0002c0002t0005g0112 a0002c0002t0005g0116 a0002c0002t0005g0137 a0002c0002t0005g0220 a0002c0002t0005g0245 a0002c0002t0032g0244 a0003c0003t0007g0035 a0003c0003t0007g0108 a0003c0003t0018g0008 a0004c0004t0027g0042 a0004c0004t0027g0074 a0004c0004t0055g0209 a0005c0005t0016g0250 a0005c0005t0016g0254	96	266	0.3609	-19	c.27+ others(36): Show c.27+24929_27+24947delCCCAGGCTAGAGTAAAGTG	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLX4IP_chr20_10430305_10633030	10538291	ACAAGGTT others(12): Show ACAAGGTTTCTCTACTTTGG	A A	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	266	0.0038	-19	c.28- others(36): Show c.28-17937_28-17919delAGGTTTCTCTACTTTGGCA	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMAD2_chr18_47803957_47935659	47853742	AAAATCTG others(12): Show AAAATCTGCTGGCAAGTCAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(205): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18997.hp1 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(169): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0196 a0001c0001t0197 a0001c0001t0200 a0001c0001t0201 a0001c0001t0202 a0001c0001t0203 a0001c0001t0204 a0001c0001t0205 a0001c0001t0206 a0001c0001t0207 a0001c0001t0208 a0001c0001t0209 a0001c0001t0210 a0001c0001t0211 a0001c0001t0212 a0001c0001t0213 a0001c0001t0214 a0001c0001t0215 a0001c0001t0216 a0001c0001t0217 a0001c0001t0218 a0001c0001t0219 a0001c0001t0220 a0001c0001t0221 a0001c0001t0222 a0001c0001t0223 a0001c0001t0224 a0001c0001t0225 a0001c0001t0226 a0001c0001t0227 a0001c0001t0228 a0001c0001t0229 a0001c0001t0230 a0001c0001t0231 a0001c0001t0232 a0001c0001t0233 a0001c0001t0234 a0001c0001t0235 a0001c0001t0236 a0001c0001t0237 a0001c0001t0238 a0001c0001t0239 a0001c0001t0240 a0001c0001t0241 a0001c0001t0242 a0001c0001t0243 a0001c0001t0244 a0001c0001t0245 a0001c0001t0246 a0001c0001t0255 a0001c0001t0257 a0001c0002t0247 a0001c0002t0248 a0001c0002t0249 a0001c0002t0250 a0001c0002t0251 a0001c0002t0252 a0001c0002t0253 a0001c0002t0254	a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0206 others(205): Show a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0003g0140 a0001c0001t0003g0146 a0001c0001t0003g0149 a0001c0001t0003g0170 a0001c0001t0004g0125 a0001c0001t0004g0130 a0001c0001t0004g0150 a0001c0001t0004g0156 a0001c0001t0005g0260 a0001c0001t0005g0278 a0001c0001t0005g0282 a0001c0001t0006g0219 a0001c0001t0006g0224 a0001c0001t0006g0237 a0001c0001t0010g0124 a0001c0001t0010g0145 a0001c0001t0010g0162 a0001c0001t0011g0223 a0001c0001t0011g0230 a0001c0001t0012g0239 a0001c0001t0012g0243 a0001c0001t0013g0177 a0001c0001t0013g0286 a0001c0001t0014g0115 a0001c0001t0014g0276 a0001c0001t0015g0216 a0001c0001t0015g0218 a0001c0001t0016g0112 a0001c0001t0016g0209 a0001c0001t0017g0208 a0001c0001t0017g0265 a0001c0001t0018g0204 a0001c0001t0018g0207 a0001c0001t0019g0183 a0001c0001t0019g0187 a0001c0001t0020g0191 a0001c0001t0020g0192 a0001c0001t0026g0110 a0001c0001t0026g0111 a0001c0001t0027g0132 a0001c0001t0027g0148 a0001c0001t0028g0138 a0001c0001t0028g0164 a0001c0001t0029g0133 a0001c0001t0029g0161 a0001c0001t0030g0134 a0001c0001t0030g0135 a0001c0001t0031g0002 a0001c0001t0033g0262 a0001c0001t0034g0258 a0001c0001t0042g0254 a0001c0001t0043g0255 a0001c0001t0044g0256 a0001c0001t0045g0250 a0001c0001t0046g0196 a0001c0001t0047g0222 a0001c0001t0048g0182 a0001c0001t0049g0186 a0001c0001t0050g0213 a0001c0001t0051g0290 a0001c0001t0052g0277 a0001c0001t0054g0274 a0001c0001t0055g0275 a0001c0001t0056g0242 a0001c0001t0057g0246 a0001c0001t0058g0240 a0001c0001t0059g0264 a0001c0001t0060g0238 a0001c0001t0061g0268 a0001c0001t0062g0234 a0001c0001t0063g0249 a0001c0001t0064g0285 a0001c0001t0065g0197 a0001c0001t0066g0199 a0001c0001t0067g0280 a0001c0001t0068g0261 a0001c0001t0069g0298 a0001c0001t0070g0202 a0001c0001t0071g0273 a0001c0001t0072g0259 a0001c0001t0073g0293 a0001c0001t0074g0200 a0001c0001t0075g0288 a0001c0001t0076g0289 a0001c0001t0077g0253 a0001c0001t0078g0272 a0001c0001t0079g0247 a0001c0001t0080g0287 a0001c0001t0081g0291 a0001c0001t0082g0296 a0001c0001t0083g0178 a0001c0001t0084g0270 a0001c0001t0085g0241 a0001c0001t0086g0116 a0001c0001t0087g0214 a0001c0001t0088g0232 a0001c0001t0089g0228 a0001c0001t0090g0248 a0001c0001t0091g0210 a0001c0001t0092g0284 a0001c0001t0093g0235 a0001c0001t0094g0004 a0001c0001t0095g0176 a0001c0001t0096g0229 a0001c0001t0097g0185 a0001c0001t0098g0181 a0001c0001t0099g0221 a0001c0001t0100g0299 a0001c0001t0101g0194 a0001c0001t0102g0193 a0001c0001t0103g0227 a0001c0001t0104g0215 a0001c0001t0105g0302 a0001c0001t0106g0225 a0001c0001t0107g0236 a0001c0001t0108g0217 a0001c0001t0109g0226 a0001c0001t0110g0231 a0001c0001t0111g0205 a0001c0001t0112g0179 a0001c0001t0113g0184 a0001c0001t0114g0180 a0001c0001t0115g0188 a0001c0001t0116g0245 a0001c0001t0117g0281 a0001c0001t0118g0203 a0001c0001t0119g0297 a0001c0001t0120g0189 a0001c0001t0121g0292 a0001c0001t0122g0251 a0001c0001t0123g0252 a0001c0001t0124g0201 a0001c0001t0125g0283 a0001c0001t0126g0279 a0001c0001t0127g0271 a0001c0001t0129g0190 a0001c0001t0130g0244 a0001c0001t0131g0212 a0001c0001t0132g0211 a0001c0001t0196g0006 a0001c0001t0197g0005 a0001c0001t0200g0175 a0001c0001t0201g0174 a0001c0001t0202g0220 a0001c0001t0203g0233 a0001c0001t0204g0295 a0001c0001t0205g0120 a0001c0001t0206g0117 a0001c0001t0207g0118 a0001c0001t0208g0119 a0001c0001t0209g0121 a0001c0001t0210g0294 a0001c0001t0211g0008 a0001c0001t0212g0167 a0001c0001t0213g0128 a0001c0001t0214g0123 a0001c0001t0215g0144 a0001c0001t0216g0157 a0001c0001t0217g0131 a0001c0001t0218g0171 a0001c0001t0219g0139 a0001c0001t0220g0151 a0001c0001t0221g0127 a0001c0001t0222g0169 a0001c0001t0223g0155 a0001c0001t0224g0141 a0001c0001t0225g0152 a0001c0001t0226g0154 a0001c0001t0227g0166 a0001c0001t0228g0158 a0001c0001t0229g0136 a0001c0001t0230g0153 a0001c0001t0231g0147 a0001c0001t0232g0129 a0001c0001t0233g0168 a0001c0001t0234g0172 a0001c0001t0235g0173 a0001c0001t0236g0159 a0001c0001t0237g0143 a0001c0001t0238g0165 a0001c0001t0239g0142 a0001c0001t0240g0163 a0001c0001t0241g0137 a0001c0001t0242g0160 a0001c0001t0243g0011 a0001c0001t0244g0122 a0001c0001t0245g0007 a0001c0001t0246g0126 a0001c0001t0255g0096 a0001c0001t0257g0309 a0001c0002t0247g0014 a0001c0002t0248g0303 a0001c0002t0249g0306 a0001c0002t0250g0304 a0001c0002t0251g0305 a0001c0002t0252g0017 a0001c0002t0253g0015 a0001c0002t0254g0016	208	310	0.6710	-19	c.731 others(36): Show c.731-2434_731-2416delGTGACTTGCCAGCAGATTT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	6/10			chr18	TogoVar
SMAD3_chr15_67060602_67200169	67183017	ATATATAT others(12): Show ATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0101 a0001c0001t0007g0101	1	310	0.0032	-19	c.871 others(36): Show c.871+1566_871+1584delATATATATATATATTTTTT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD7_chr18_48914853_48955965	48936098	ACACACAC others(12): Show ACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01891.hp2 HG02559.hp2 others(1): Show HG00738.hp2 HG01891.hp2 HG02559.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0062 a0001c0001t0001g0338 a0001c0001t0003g0337 others(1): Show a0001c0001t0001g0062 a0001c0001t0001g0338 a0001c0001t0003g0337 a0001c0001t0003g0363	4	398	0.0101	-19	c.742 others(36): Show c.742+6364_742+6382delGTGTGTGTGTGTGTGTGTG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAP1_chr6_70662883_70867003	70725093	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	306	0.0033	-19	c.119 others(36): Show c.119-7262_119-7244delTTTTTTTTTTTTTTTTTTT	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMARCA2_chr9_2010347_2198620	2155720	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	316	0.0032	-19	c.398 others(38): Show c.3982-5946_3982-5928delTTTTTTTTTTTTTTTTTTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	27/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2186304	AAGAGACT others(12): Show AAGAGACTTTAGAGTGGGGC	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01243.hp1 HG02280.hp2 others(7): Show HG01069.hp2 HG01243.hp1 HG02280.hp2 HG02559.hp1 HG02615.hp1 HG02717.hp1 HG02965.hp2 HG03471.hp1 HG06807.hp1 NA20300.hp2	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0006 a0022	a0002c0005 a0003c0007 a0004c0014 others(4): Show a0002c0005 a0003c0007 a0004c0014 a0004c0017 a0004c0026 a0006c0021 a0022c0062	a0002c0005t0001 a0003c0007t0001 a0003c0007t0002 others(5): Show a0002c0005t0001 a0003c0007t0001 a0003c0007t0002 a0004c0014t0001 a0004c0017t0002 a0004c0026t0002 a0006c0021t0002 a0022c0062t0002	a0002c0005t0001g0149 a0003c0007t0001g0198 a0003c0007t0002g0276 others(7): Show a0002c0005t0001g0149 a0003c0007t0001g0198 a0003c0007t0002g0276 a0004c0014t0001g0078 a0004c0014t0001g0199 a0004c0017t0002g0022 a0004c0026t0002g0118 a0006c0021t0002g0024 a0006c0021t0002g0235 a0022c0062t0002g0272	10	316	0.0317	-19	c.459 others(34): Show c.4594+80_4594+98delGACTTTAGAGTGGGGCAGA	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	32/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCD1_chr12_50080342_50105707	50091766	ACGGGGCT others(12): Show ACGGGGCTTCACCATGTTTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00639.hp1 others(65): Show HG00140.hp2 HG00544.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01168.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01891.hp2 HG01934.hp2 HG01978.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02273.hp1 HG02280.hp1 HG02523.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG03130.hp2 HG03239.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03942.hp2 NA18747.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18963.hp1 NA18971.hp2 NA18978.hp1 NA18980.hp1 NA18983.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19010.hp1 NA19066.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0020 others(21): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0102 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136	68	366	0.1858	-19	c.113 others(38): Show c.1133+1178_1133+1196delGGGGCTTCACCATGTTTGC	SMARCD1	ENSG00000066117.15	transcript	ENST00000394963.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SMC1B_chr22_45339063_45418599	45388992	AAAAAAAA others(12): Show AAAAAAAAAAAAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0305 a0001c0008t0003g0305	1	360	0.0028	-19	c.173 others(36): Show c.1731+701_1731+719delCTTTTTCTTTTTTTTTTTT	SMC1B	ENSG00000077935.17	transcript	ENST00000357450.9	protein_coding	10/24			chr22	TogoVar
SMC1B_chr22_45339063_45418599	45404688	ACCTGGAA others(12): Show ACCTGGAAGCCCTGGCTCCC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp2 others(198): Show HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA18955.hp1 NA18956.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18967.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp1 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(10): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0015	a0001c0002 a0001c0004 a0001c0007 others(13): Show a0001c0002 a0001c0004 a0001c0007 a0001c0010 a0003c0003 a0004c0005 a0005c0006 a0006c0009 a0007c0011 a0008c0012 a0009c0014 a0010c0013 a0011c0015 a0013c0016 a0014c0021 a0015c0020	a0001c0002t0001 a0001c0002t0005 a0001c0004t0003 others(16): Show a0001c0002t0001 a0001c0002t0005 a0001c0004t0003 a0001c0007t0001 a0001c0010t0001 a0003c0003t0001 a0003c0003t0002 a0004c0005t0001 a0005c0006t0001 a0005c0006t0007 a0006c0009t0001 a0007c0011t0001 a0008c0012t0001 a0009c0014t0001 a0010c0013t0001 a0011c0015t0001 a0013c0016t0001 a0014c0021t0001 a0015c0020t0001	a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0014 others(187): Show a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0024 a0001c0002t0001g0029 a0001c0002t0001g0038 a0001c0002t0001g0050 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0172 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0216 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0282 a0001c0002t0001g0287 a0001c0002t0001g0295 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0005g0040 a0001c0002t0005g0041 a0001c0004t0003g0173 a0001c0004t0003g0242 a0001c0007t0001g0022 a0001c0007t0001g0026 a0001c0007t0001g0027 a0001c0007t0001g0028 a0001c0010t0001g0042 a0001c0010t0001g0043 a0001c0010t0001g0044 a0001c0010t0001g0046 a0003c0003t0001g0016 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0199 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0235 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0243 a0003c0003t0001g0244 a0003c0003t0001g0245 a0003c0003t0001g0246 a0003c0003t0001g0248 a0003c0003t0001g0249 a0003c0003t0001g0250 a0003c0003t0001g0252 a0003c0003t0001g0253 a0003c0003t0001g0254 a0003c0003t0001g0255 a0003c0003t0001g0256 a0003c0003t0001g0257 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0266 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0269 a0003c0003t0001g0270 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0275 a0003c0003t0001g0276 a0003c0003t0001g0277 a0003c0003t0001g0278 a0003c0003t0001g0279 a0003c0003t0001g0280 a0003c0003t0001g0281 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0002g0247 a0004c0005t0001g0003 a0004c0005t0001g0021 a0004c0005t0001g0146 a0004c0005t0001g0181 a0004c0005t0001g0183 a0004c0005t0001g0184 a0004c0005t0001g0185 a0004c0005t0001g0186 a0004c0005t0001g0187 a0004c0005t0001g0188 a0004c0005t0001g0189 a0004c0005t0001g0200 a0004c0005t0001g0201 a0004c0005t0001g0202 a0004c0005t0001g0203 a0004c0005t0001g0204 a0004c0005t0001g0205 a0004c0005t0001g0206 a0004c0005t0001g0207 a0004c0005t0001g0208 a0004c0005t0001g0215 a0004c0005t0001g0217 a0004c0005t0001g0286 a0005c0006t0001g0002 a0005c0006t0001g0148 a0005c0006t0001g0156 a0005c0006t0001g0159 a0005c0006t0001g0161 a0005c0006t0001g0163 a0005c0006t0001g0167 a0005c0006t0001g0168 a0005c0006t0001g0169 a0005c0006t0007g0337 a0006c0009t0001g0012 a0006c0009t0001g0013 a0006c0009t0001g0059 a0006c0009t0001g0171 a0007c0011t0001g0025 a0007c0011t0001g0047 a0007c0011t0001g0048 a0007c0011t0001g0049 a0008c0012t0001g0037 a0008c0012t0001g0039 a0008c0012t0001g0045 a0009c0014t0001g0179 a0009c0014t0001g0192 a0010c0013t0001g0051 a0010c0013t0001g0052 a0011c0015t0001g0170 a0011c0015t0001g0174 a0013c0016t0001g0209 a0014c0021t0001g0251 a0015c0020t0001g0258	201	360	0.5583	-19	c.615 others(36): Show c.615+1753_615+1771delGGGAGCCAGGGCTTCCAGG	SMC1B	ENSG00000077935.17	transcript	ENST00000357450.9	protein_coding	4/24			chr22	TogoVar
SMC5_chr9_70253978_70359873	70343872	AGCTAGAC others(12): Show AGCTAGACTTTCAGGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0107 a0007c0012t0001g0107	1	366	0.0027	-19	c.239 others(36): Show c.2398-269_2398-251delTAGACTTTCAGGAAAAGGC	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMC6_chr2_17658812_17758810	17755244	TGTCACTT others(12): Show TGTCACTTGCTTCAGGAACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	254	0.0039	-19	c.-17 others(30): Show c.-1730_-1712delGGTTCCTGAAGCAAGTGAC	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding		1435		chr2	TogoVar
SMCHD1_chr18_2650726_2810017	2775068	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01884.hp2 HG01891.hp2 others(8): Show HG01192.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02572.hp1 HG02615.hp1 HG02976.hp2	a0001 a0004 a0007 others(1): Show a0001 a0004 a0007 a0009	a0001c0007 a0004c0008 a0007c0020 others(1): Show a0001c0007 a0004c0008 a0007c0020 a0009c0022	a0001c0007t0011 a0004c0008t0011 a0004c0008t0017 others(3): Show a0001c0007t0011 a0004c0008t0011 a0004c0008t0017 a0004c0008t0019 a0007c0020t0017 a0009c0022t0011	a0001c0007t0011g0230 a0004c0008t0011g0221 a0004c0008t0011g0222 others(8): Show a0001c0007t0011g0230 a0004c0008t0011g0221 a0004c0008t0011g0222 a0004c0008t0011g0223 a0004c0008t0017g0248 a0004c0008t0017g0249 a0004c0008t0019g0218 a0004c0008t0019g0219 a0004c0008t0019g0224 a0007c0020t0017g0220 a0009c0022t0011g0229	11	340	0.0324	-19	c.517 others(36): Show c.5176-653_5176-635delTTTTTTTTTTTTTTTTTTT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	41/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMG1_chr16_18799860_18931408	18874866	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00558.hp2 others(40): Show HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00642.hp1 HG00741.hp2 HG01081.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01257.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01975.hp1 HG01993.hp2 HG02056.hp2 HG02083.hp1 HG02135.hp2 HG02602.hp1 HG02630.hp2 HG02698.hp1 HG02922.hp1 HG03098.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG04184.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18945.hp1 NA18946.hp1 NA18955.hp1 NA18962.hp2 NA18969.hp2 NA18973.hp1 NA18990.hp1 NA18993.hp1 NA19009.hp2 NA19043.hp1 NA19077.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0007 a0001c0010 a0001c0014 others(5): Show a0001c0007 a0001c0010 a0001c0014 a0001c0016 a0001c0025 a0002c0005 a0003c0006 a0003c0017	a0001c0007t0003 a0001c0007t0023 a0001c0007t0028 others(8): Show a0001c0007t0003 a0001c0007t0023 a0001c0007t0028 a0001c0010t0003 a0001c0010t0026 a0001c0014t0001 a0001c0016t0003 a0001c0025t0003 a0002c0005t0003 a0003c0006t0003 a0003c0017t0003	a0001c0007t0003g0176 a0001c0007t0003g0195 a0001c0007t0003g0196 others(40): Show a0001c0007t0003g0176 a0001c0007t0003g0195 a0001c0007t0003g0196 a0001c0007t0003g0210 a0001c0007t0003g0211 a0001c0007t0003g0214 a0001c0007t0003g0215 a0001c0007t0023g0026 a0001c0007t0028g0219 a0001c0010t0003g0181 a0001c0010t0003g0194 a0001c0010t0026g0207 a0001c0014t0001g0069 a0001c0016t0003g0197 a0001c0016t0003g0204 a0001c0025t0003g0193 a0002c0005t0003g0177 a0002c0005t0003g0178 a0002c0005t0003g0179 a0002c0005t0003g0180 a0002c0005t0003g0183 a0002c0005t0003g0185 a0002c0005t0003g0186 a0002c0005t0003g0187 a0002c0005t0003g0191 a0002c0005t0003g0203 a0002c0005t0003g0206 a0002c0005t0003g0208 a0002c0005t0003g0209 a0002c0005t0003g0212 a0003c0006t0003g0182 a0003c0006t0003g0184 a0003c0006t0003g0188 a0003c0006t0003g0189 a0003c0006t0003g0190 a0003c0006t0003g0192 a0003c0006t0003g0198 a0003c0006t0003g0199 a0003c0006t0003g0200 a0003c0006t0003g0201 a0003c0006t0003g0202 a0003c0006t0003g0213 a0003c0017t0003g0205	43	300	0.1433	-19	c.189 others(38): Show c.1890+1239_1890+1257delTTTTTTTTTTTTTTTTTTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	13/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18887762	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03540.hp2 NA18983.hp1 HG03098.hp1 HG03540.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0016t0003 a0001c0001t0001 a0001c0016t0003	a0001c0001t0001g0129 a0001c0016t0003g0197 a0001c0016t0003g0204 a0001c0001t0001g0129 a0001c0016t0003g0197 a0001c0016t0003g0204	3	300	0.0100	-19	c.822 others(36): Show c.822+1591_822+1609delTTTTTTTTTTTTTTTTTTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	6/62			chr16	TogoVar
SMG5_chr1_156244224_156287825	156271661	CCTCCTGG others(12): Show CCTCCTGGGTTCAAGTGATT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00423.hp1 others(78): Show HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp1 HG01099.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02148.hp2 HG02273.hp1 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG04115.hp1 HG04199.hp2 NA18939.hp2 NA18952.hp2 NA18956.hp2 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18973.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp2 NA18987.hp2 NA18998.hp1 NA18999.hp1 NA19004.hp1 NA19007.hp1 NA19043.hp1 NA19054.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19078.hp1 NA19080.hp1 NA19082.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0011 a0001c0001 a0001c0002 a0005c0011	a0001c0001t0002 a0001c0002t0001 a0001c0002t0005 others(4): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 a0005c0011t0001	a0001c0001t0002g0144 a0001c0002t0001g0005 a0001c0002t0001g0006 others(67): Show a0001c0001t0002g0144 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0307 a0001c0002t0005g0050 a0001c0002t0005g0067 a0001c0002t0005g0068 a0001c0002t0008g0033 a0001c0002t0011g0082 a0001c0002t0012g0099 a0005c0011t0001g0035	81	368	0.2201	-19	c.713 others(34): Show c.713+640_713+658delAATCACTTGAACCCAGGAG	SMG5	ENSG00000198952.8	transcript	ENST00000361813.5	protein_coding	7/21			chr1	TogoVar
SMIM10L1_chr12_11166194_11181016	11168200	CGAAAGAA others(12): Show CGAAAGAAAGAAAGAAGAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG03225.hp1 HG03516.hp2 others(1): Show HG00438.hp2 HG03225.hp1 HG03516.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0039 a0001c0001t0001 a0001c0002t0002 a0001c0002t0039	a0001c0001t0001g0000 a0001c0002t0002g0000 a0001c0002t0039g0000 a0001c0001t0001g0000 a0001c0002t0002g0000 a0001c0002t0039g0000	4	397	0.0101	-19	c.-31 others(30): Show c.-3156_-3138delGAAAGAAAGAAAGAAGAAA	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2993		chr12	TogoVar
SMIM13_chr6_11088834_11143733	11089299	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG03098.hp1 HG02559.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0028 a0001c0001t0007 a0001c0001t0028	a0001c0001t0007g0281 a0001c0001t0028g0186 a0001c0001t0007g0281 a0001c0001t0028g0186	2	400	0.0050	-19	c.-50 others(30): Show c.-5014_-4996delTTTTTTTTTTTTTTTTTTT	SMIM13	ENSG00000224531.6	transcript	ENST00000416247.4	protein_coding		4534		chr6	TogoVar
SMIM1_chr1_3767749_3780956	3773498	TGGGCTTG others(12): Show TGGGCTTGACCCCTCCCACC	T T	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	420	0.0024	-19	c.-76 others(34): Show c.-76+321_-76+339delCTTGACCCCTCCCACCGGG	SMIM1	ENSG00000235169.11	transcript	ENST00000642557.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMIM21_chr18_75404476_75432703	75426631	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01175.hp1 HG01243.hp2 others(3): Show HG00280.hp2 HG01175.hp1 HG01243.hp2 HG03225.hp1 HG06807.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0101 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0101 a0001c0001t0004g0102	6	432	0.0139	-19	c.129 others(34): Show c.129+785_129+803delTTTTTTTTTTTTTTTTTTT	SMIM21	ENSG00000206026.7	transcript	ENST00000579022.5	protein_coding	1/2			chr18	TogoVar
SMIM46_chr19_14107324_14117476	14109958	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	368	0.0027	-19	c.23 others(30): Show c.2347_*2365delATATATATATATTTTTTTT	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2365		chr19	TogoVar
SMIM46_chr19_14107324_14117476	14109966	ATATATAT others(12): Show ATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	368	0.0027	-19	c.23 others(30): Show c.2339_*2357delATATATATATATATATATA	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2357		chr19	TogoVar
SMKR1_chr7_129497531_129517918	129502239	GCCCGCGC others(12): Show GCCCGCGCCCGCCCCCTCGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(375): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0000 a0001 a0005 others(1): Show a0000 a0001 a0005 a0006	a0000c0005 a0001c0001 a0005c0006 others(1): Show a0000c0005 a0001c0001 a0005c0006 a0006c0004	a0000c0005t0005 a0001c0001t0001 a0001c0001t0002 others(4): Show a0000c0005t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0005c0006t0001 a0006c0004t0001	a0000c0005t0005g0067 a0001c0001t0001g0001 a0001c0001t0001g0002 others(113): Show a0000c0005t0005g0067 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0017 a0001c0001t0002g0040 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0099 a0001c0001t0002g0120 a0001c0001t0004g0002 a0001c0001t0006g0043 a0005c0006t0001g0065 a0006c0004t0001g0002	378	422	0.8957	-19	c.-58 others(28): Show c.-585_-567delCCCGCGCCCGCCCCCTCGC	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		291		chr7	TogoVar

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