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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
SLC24A3_chr20_19207642_19727926	19531085	CACCAATT others(42): Show CACCAATTCTGAACCTGTCCACATGCATCAGGATGGGAGTTGAGCAGAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03195.hp1 HG02572.hp2 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0117 a0002c0002t0001g0078 a0002c0002t0001g0117	2	160	0.0125	-49	c.348 others(68): Show c.348+15522_348+15570delACCAATTCTGAACCTGTCCACATGCA TCAGGATGGGAGTTGAGCAGAAA	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	3/16			chr20	TogoVar
SLC24A4_chr14_92318165_92506481	92392786	ACTGTGTG others(42): Show ACTGTGTGAGGTCACATGGGAGGCGCCATCTGTGAGGAATACCTCTTCCT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG04204.hp2 HG01515.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0097 a0001c0001t0049 a0001c0001t0097	a0001c0001t0049g0186 a0001c0001t0097g0133 a0001c0001t0049g0186 a0001c0001t0097g0133	2	282	0.0071	-49	c.242 others(68): Show c.242-41095_242-41047delGTGAGGAATACCTCTTCCTCTGTGTG AGGTCACATGGGAGGCGCCATCT	SLC24A4	ENSG00000140090.18	transcript	ENST00000532405.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr14	TogoVar
SLC25A43_chrX_119394336_119459478	119457095	AAAGAAAG others(42): Show AAAGAAAGAAAAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0166 a0001c0003t0021g0166	1	314	0.0032	-49	c.40 others(60): Show c.4031_*4079delAAGAAAGAAAAAGGAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAG	SLC25A43	ENSG00000077713.19	transcript	ENST00000217909.8	protein_coding		2618		chrX	TogoVar
SLC2A9_chr4_9821224_10026497	9874766	TGCTGTGT others(42): Show TGCTGTGTCTTTAGAAATGGCCATAAGTTAGTGTCTGTCTAATGTGGGAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02818.hp1 HG02559.hp2 HG02818.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0202 a0002c0006t0001g0218 a0002c0006t0001g0202 a0002c0006t0001g0218	2	336	0.0060	-49	c.129 others(70): Show c.1291+12752_1291+12800delGTCCCACATTAGACAGACACTAAC TTATGGCCATTTCTAAAGACACAGC	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	10/11			chr4	TogoVar
SLC2A9_chr4_9821224_10026497	9875186	ATCTGTCT others(42): Show ATCTGTCTAAGATGGGATGCTGTGTCTTTAGAAATGGCCATAGGTTACTC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0254 a0002c0006t0001g0254	1	336	0.0030	-49	c.129 others(70): Show c.1291+12332_1291+12380delGAGTAACCTATGGCCATTTCTAAA GACACAGCATCCCATCTTAGACAGA	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	10/11			chr4	TogoVar
SLC35F3_chr1_233899676_234329511	234108236	ATATATAT others(42): Show ATATATATAAAAGATATATATATTTATATATATAAAAGATATATATTATT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp2 HG02922.hp2 others(1): Show HG02572.hp1 HG02622.hp2 HG02922.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0031 a0001c0001t0003g0155 a0001c0002t0002g0100 others(1): Show a0001c0001t0001g0031 a0001c0001t0003g0155 a0001c0002t0002g0100 a0001c0002t0002g0149	4	158	0.0253	-49	c.284 others(70): Show c.284-123170_284-123122delAGATATATATATTTATATATATAA AAGATATATATTATTTATATATAAA	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC38A9_chr5_55620848_55717324	55695863	ACCTCCCG others(42): Show ACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTAACCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19087.hp1 NA19084.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0087 a0001c0001t0001g0067 a0001c0001t0001g0087	2	350	0.0057	-49	c.113 others(66): Show c.113+1934_113+1982delGAGGTGGGGGGGTTAGCCCCCCGCCCGG CCAGCCGCCCCATCCGGGAGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC38A9_chr5_55620848_55717324	55695990	ACCTCCCG others(42): Show ACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	350	0.0029	-49	c.113 others(66): Show c.113+1807_113+1855delGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCTGCCCCGTCCGGGAGG	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC38A9_chr5_55620848_55717324	55696006	AGCTGGCC others(42): Show AGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG	A A	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA19079.hp1 NA18956.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0174 a0001c0001t0001g0175	2	350	0.0057	-49	c.113 others(66): Show c.113+1791_113+1839delCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGC	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC38A9_chr5_55620848_55717324	55696066	CGGGGGGC others(42): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp2 HG02615.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0011 a0001c0001t0001g0012	2	350	0.0057	-49	c.113 others(66): Show c.113+1731_113+1779delACCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCC	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC38A9_chr5_55620848_55717324	55696099	GGGGCGGC others(42): Show GGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACC	G G	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	350	0.0029	-49	c.113 others(66): Show c.113+1698_113+1746delGGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCACCCGGCCAGCCGCCC	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC38A9_chr5_55620848_55717324	55696115	TGGGGGGC others(42): Show TGGGGGGCTGACCCCCCCACCTCCCTCCCGGACCGGGCGGCTGACCGGGC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00735.hp2 HG01070.hp2 others(14): Show HG00423.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG02135.hp1 HG02738.hp2 HG04115.hp1 NA18941.hp1 NA18965.hp2 NA18966.hp1 NA18988.hp2 NA19003.hp1 NA19004.hp1 NA19011.hp1 NA19055.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0013 others(14): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0014t0001g0022	17	350	0.0486	-49	c.113 others(66): Show c.113+1682_113+1730delGCCCGGTCAGCCGCCCGGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCC	SLC38A9	ENSG00000177058.12	transcript	ENST00000396865.7	protein_coding	3/15			chr5	TogoVar
SLC45A4_chr8_141202174_141313288	141203406	AGGGAGAG others(42): Show AGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGAGACCGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0120 a0003c0002t0002g0120	1	188	0.0053	-49	c.81 others(60): Show c.8117_*8165delCACGGTCTCTCTCTCTCTCTCTCCCTCTCTCCCT CTCTCCCTCTCTCCC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3767		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203416	GGAGAGAG others(42): Show GGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGAGACCGTGGAGAGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02976.hp2 HG02970.hp1 HG02976.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0116 a0002c0001t0004g0117 a0002c0001t0004g0116 a0002c0001t0004g0117	2	188	0.0106	-49	c.81 others(60): Show c.8107_*8155delTCTCTCTCTCCACGGTCTCTCTCTCTCTCTCTCC CTCTCTCCCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3757		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203432	GGAGAGAG others(42): Show GGAGAGAGAGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01934.hp2 HG02602.hp1 others(2): Show HG00741.hp1 HG01934.hp2 HG02602.hp1 HG03688.hp1 HG04115.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0002 a0003c0012 a0002c0001 a0003c0002 a0003c0012	a0002c0001t0001 a0003c0002t0002 a0003c0002t0023 others(1): Show a0002c0001t0001 a0003c0002t0002 a0003c0002t0023 a0003c0012t0002	a0002c0001t0001g0078 a0003c0002t0002g0054 a0003c0002t0002g0139 others(2): Show a0002c0001t0001g0078 a0003c0002t0002g0054 a0003c0002t0002g0139 a0003c0002t0023g0096 a0003c0012t0002g0082	5	188	0.0266	-49	c.80 others(60): Show c.8091_*8139delTCTCTCTCTCTCTCTCTCTCTCTCTCCACGGTCT CTCTCTCTCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3741		chr8	TogoVar
SLC5A1_chr22_32038261_32118029	32090658	TTTTCATT others(42): Show TTTTCATTTCTCTTGGGTAGAGAGAAATGAAATTCCACCTAGGAATGGAA	T T	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0095 a0001c0001t0004g0095	1	252	0.0040	-49	c.113 others(66): Show c.1130-902_1130-854delTCATTTCTCTTGGGTAGAGAGAAATGAA ATTCCACCTAGGAATGGAATT	SLC5A1	ENSG00000100170.10	transcript	ENST00000266088.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC9B2_chr4_103017253_103081761	103058753	GGAAAAGC others(42): Show GGAAAAGCATTTCTATAAGAATGTGAAATAGGCCAGGCATGGTGGTTTAT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0021 a0003c0004t0021	a0003c0004t0021g0058 a0003c0004t0021g0058	1	356	0.0028	-49	c.272 others(64): Show c.272-831_272-783delATAAACCACCATGCCTGGCCTATTTCACAT TCTTATAGAAATGCTTTTC	SLC9B2	ENSG00000164038.16	transcript	ENST00000394785.9	protein_coding	3/11			chr4	TogoVar
SLURP2_chr8_142759338_142774828	142760323	CACCATAC others(42): Show CACCATACAATCCACCCGTTTACAGTGGGTAACTCAGTGGTTTTTCACGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02630.hp1 HG02559.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0074 a0001c0001t0004g0073 a0001c0001t0002g0074 a0001c0001t0004g0073	2	446	0.0045	-49	c.42 others(60): Show c.4233_*4281delACGTGAAAAACCACTGAGTTACCCACTGTAAACG GGTGGATTGTATGGT	SLURP2	ENSG00000283992.2	transcript	ENST00000317543.12	protein_coding		4014		chr8	TogoVar
SLURP2_chr8_142759338_142774828	142760792	CTAATTCA others(42): Show CTAATTCAGTGGTTTCTCACGCACCATACAATCCACCCGTTTACAGTGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	446	0.0022	-49	c.37 others(60): Show c.3764_*3812delCCCACTGTAAACGGGTGGATTGTATGGTGCGTGA GAAACCACTGAATTA	SLURP2	ENSG00000283992.2	transcript	ENST00000317543.12	protein_coding		3545		chr8	TogoVar
SMOC2_chr6_168436184_168672992	168489556	CGTCTGGG others(42): Show CGTCTGGGTCCCCTTGGATCACACTGTTTTAGAATGAAATATATCAAATT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG02572.hp2 others(9): Show HG01243.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02970.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 NA18522.hp1 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0007 a0001c0002 a0001c0004 a0001c0007	a0001c0002t0002 a0001c0002t0007 a0001c0002t0014 others(2): Show a0001c0002t0002 a0001c0002t0007 a0001c0002t0014 a0001c0004t0005 a0001c0007t0005	a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 others(9): Show a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0180 a0001c0002t0007g0053 a0001c0002t0014g0005 a0001c0004t0005g0048 a0001c0004t0005g0049 a0001c0004t0005g0051 a0001c0007t0005g0050	12	180	0.0667	-49	c.85- others(66): Show c.85-20310_85-20262delTGTCTGGGTCCCCTTGGATCACACTGTT TTAGAATGAAATATATCAAAT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD1_chr2_88062825_88118384	88065223	CCCCTCCC others(42): Show CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02698.hp1 HG02818.hp1 others(4): Show HG02055.hp2 HG02698.hp1 HG02818.hp1 HG03098.hp1 HG03195.hp1 HG03453.hp1 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0014 a0002c0006 a0001c0003 a0001c0014 a0002c0006	a0001c0003t0002 a0001c0003t0004 a0001c0014t0006 others(1): Show a0001c0003t0002 a0001c0003t0004 a0001c0014t0006 a0002c0006t0001	a0001c0003t0002g0284 a0001c0003t0004g0304 a0001c0003t0004g0305 others(4): Show a0001c0003t0002g0284 a0001c0003t0004g0304 a0001c0003t0004g0305 a0001c0014t0006g0289 a0001c0014t0006g0303 a0002c0006t0001g0285 a0002c0006t0001g0288	7	338	0.0207	-49	c.-26 others(60): Show c.-2641_-2593delCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCCTCCCCTCCCCT	SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding		2601		chr2	TogoVar
SMYD2_chr1_214276159_214342131	214296739	CAAGATCA others(42): Show CAAGATCACATAGTACATCAAGTACCAGAAAGAAAAAAGGATTTGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02738.hp2 HG04184.hp2 HG01175.hp1 HG02738.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0265 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0265	3	380	0.0079	-49	c.174 others(66): Show c.174-8447_174-8399delAAGATCACATAGTACATCAAGTACCAGA AAGAAAAAAGGATTTGAGAGA	SMYD2	ENSG00000143499.14	transcript	ENST00000366957.10	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246232622	TCACACAG others(42): Show TCACACAGTGATGAACATATTCCACACAGAGGAGAAGCACTCCTTCAATC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00423.hp2 others(50): Show HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01081.hp2 HG01109.hp1 HG01243.hp1 HG01496.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02717.hp1 HG02965.hp2 HG03017.hp1 HG03130.hp1 HG03579.hp1 HG03831.hp1 HG04115.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18984.hp1 NA19000.hp1 NA19057.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0006 others(10): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0001c0012 a0001c0014 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0008 a0002c0017 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0011t0002 a0001c0012t0002 a0001c0014t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0017t0001 a0004c0013t0002	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0038 others(50): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0002g0052 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0002t0001g0015 a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0073 a0001c0002t0001g0079 a0001c0002t0002g0010 a0001c0002t0002g0070 a0001c0002t0002g0077 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0006t0001g0035 a0001c0011t0002g0049 a0001c0012t0002g0074 a0001c0014t0002g0091 a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0109 a0002c0003t0001g0148 a0002c0003t0002g0104 a0002c0003t0002g0131 a0002c0004t0001g0098 a0002c0004t0001g0121 a0002c0005t0001g0138 a0002c0007t0001g0120 a0002c0007t0001g0123 a0002c0007t0001g0124 a0002c0007t0001g0132 a0002c0007t0004g0134 a0002c0008t0001g0128 a0002c0008t0001g0135 a0002c0008t0002g0125 a0002c0017t0001g0122 a0004c0013t0002g0072	53	150	0.3533	-49	c.531 others(68): Show c.531+94530_531+94578delGATTGAAGGAGTGCTTCTCCTCTGTG TGGAATATGTTCATCACTGTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246233245	ACTCCTTC others(42): Show ACTCCTTCAATCCACACTGTGATGAATATATACCACACAGAGGAGAAGCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG00738.hp2 others(16): Show HG00408.hp2 HG00621.hp1 HG00738.hp2 HG01975.hp2 HG02015.hp1 HG02071.hp2 HG02132.hp1 HG02165.hp1 HG02258.hp1 HG02486.hp2 HG02717.hp2 HG02809.hp2 HG03225.hp1 HG03491.hp1 HG03831.hp2 NA18747.hp1 NA18965.hp1 NA18984.hp2 NA19000.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0002c0005 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0006t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0002 a0005c0015t0002	a0001c0001t0001g0007 a0001c0001t0001g0046 a0001c0001t0001g0054 others(16): Show a0001c0001t0001g0007 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0082 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0081 a0001c0002t0001g0016 a0001c0002t0001g0062 a0001c0006t0001g0022 a0002c0003t0001g0111 a0002c0003t0002g0110 a0002c0004t0001g0119 a0002c0005t0002g0118 a0005c0015t0002g0094	19	150	0.1267	-49	c.531 others(68): Show c.531+93907_531+93955delCGCTTCTCCTCTGTGTGGTATATATT CATCACAGTGTGGATTGAAGGAG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG1_chr8_49906407_50801692	50662752	AAAACATT others(42): Show AAAACATTACCCTTTATGAGTGTATTGGGCACTATGAACTTCAGTTCTTC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03225.hp2 HG02647.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0097 a0001c0001t0011g0099 a0001c0001t0011g0097 a0001c0001t0011g0099	2	106	0.0189	-49	c.103 others(68): Show c.1038+4091_1038+4139delAACATTACCCTTTATGAGTGTATTGG GCACTATGAACTTCAGTTCTTCA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	1134432	TTAGCTAG others(42): Show TTAGCTAGATACAGAGTGTCGACACAAAGGTTCTCCAAGTCTCCATCAGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG01106.hp2 others(11): Show HG00099.hp2 HG00438.hp1 HG01106.hp2 HG01192.hp1 HG02071.hp1 HG02132.hp2 HG03654.hp1 HG03927.hp1 NA18942.hp1 NA18943.hp2 NA18961.hp1 NA18963.hp1 NA18983.hp2 NA20752.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0010 a0012	a0001c0001 a0002c0003 a0004c0004 others(3): Show a0001c0001 a0002c0003 a0004c0004 a0006c0009 a0010c0012 a0012c0019	a0001c0001t0001 a0002c0003t0001 a0004c0004t0001 others(3): Show a0001c0001t0001 a0002c0003t0001 a0004c0004t0001 a0006c0009t0001 a0010c0012t0001 a0012c0019t0001	a0001c0001t0001g0173 a0002c0003t0001g0051 a0002c0003t0001g0064 others(11): Show a0001c0001t0001g0173 a0002c0003t0001g0051 a0002c0003t0001g0064 a0002c0003t0001g0093 a0002c0003t0001g0113 a0002c0003t0001g0148 a0002c0003t0001g0161 a0002c0003t0001g0174 a0002c0003t0001g0175 a0004c0004t0001g0065 a0004c0004t0001g0169 a0006c0009t0001g0163 a0010c0012t0001g0166 a0012c0019t0001g0122	14	190	0.0737	-49	c.326 others(66): Show c.326-3168_326-3120delCACAAAGGTTCTCCAAGTCTCCATCAGG TAGCTAGATACAGAGTGTCGA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX4_chr3_125441650_125525202	125458832	AAAAAAAA others(42): Show AAAAAAAAAAAAAAGAAAAGAAAAGATTCTAATACAGCAATGCACAAAGT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00741.hp2 HG01081.hp1 others(39): Show HG00438.hp2 HG00741.hp2 HG01081.hp1 HG01496.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02056.hp1 HG02083.hp1 HG02155.hp1 HG02258.hp2 HG02293.hp1 HG02486.hp1 HG02602.hp1 HG02615.hp2 HG02818.hp2 HG03098.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03942.hp2 HG06807.hp2 NA18612.hp2 NA18943.hp2 NA18944.hp2 NA18951.hp2 NA18953.hp1 NA18969.hp2 NA18975.hp2 NA18983.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp2 NA19058.hp1 NA19062.hp2 NA19065.hp1 NA19074.hp1 NA19078.hp2 NA19090.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 a0002c0002t0002	a0001c0001t0001g0156 a0001c0001t0001g0166 a0001c0001t0001g0168 others(39): Show a0001c0001t0001g0156 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0247 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0313 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0002g0126 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0277 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0005t0002g0136 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006	42	360	0.1167	-49	c.945 others(66): Show c.945-1516_945-1468delACTTTGTGCATTGCTGTATTAGAATCTT TTCTTTTCTTTTTTTTTTTTT	SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	10/13			chr3	TogoVar
SNX8_chr7_2246770_2319441	2268121	GTCAGCCC others(42): Show GTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0013	a0001c0006t0013g0176 a0001c0006t0013g0176	1	370	0.0027	-49	c.621 others(66): Show c.621+1389_621+1437delGCCCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCAGGCGGGGGGCTGA	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	5/10			chr7	TogoVar
SNX8_chr7_2246770_2319441	2303234	AGGGGGTC others(42): Show AGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03041.hp1 HG03139.hp1 others(3): Show HG01255.hp1 HG03041.hp1 HG03139.hp1 HG03579.hp2 NA18906.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0005 a0001c0001t0008 a0001c0001t0037 others(1): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0037 a0002c0004t0038	a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0005g0169 others(3): Show a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0005g0169 a0001c0001t0008g0170 a0001c0001t0037g0121 a0002c0004t0038g0358	6	370	0.0162	-49	c.94+ others(66): Show c.94+11045_94+11093delCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCC	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	1/10			chr7	TogoVar
SON_chr21_33538038_33582481	33563398	CCTCTTTA others(42): Show CCTCTTTATATTTTAATATTTGCTAAATATTCTAAAATCATGTTTTATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01069.hp2 others(62): Show HG00280.hp1 HG00323.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01256.hp1 HG01433.hp2 HG01934.hp1 HG01981.hp2 HG02071.hp1 HG02074.hp2 HG02129.hp2 HG02135.hp2 HG02523.hp1 HG02602.hp2 HG02735.hp1 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp1 NA18942.hp2 NA18953.hp1 NA18954.hp2 NA18964.hp1 NA18968.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp2 NA18991.hp1 NA18992.hp2 NA18995.hp1 NA19000.hp1 NA19006.hp2 NA19054.hp1 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19063.hp1 NA19064.hp1 NA19076.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0009	a0001c0002 a0001c0019 a0001c0022 others(7): Show a0001c0002 a0001c0019 a0001c0022 a0001c0023 a0001c0025 a0001c0047 a0005c0026 a0008c0018 a0008c0024 a0009c0017	a0001c0002t0001 a0001c0019t0001 a0001c0022t0001 others(7): Show a0001c0002t0001 a0001c0019t0001 a0001c0022t0001 a0001c0023t0001 a0001c0025t0001 a0001c0047t0001 a0005c0026t0001 a0008c0018t0001 a0008c0024t0001 a0009c0017t0001	a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0007 others(43): Show a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0012 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0159 a0001c0019t0001g0002 a0001c0022t0001g0007 a0001c0023t0001g0012 a0001c0025t0001g0149 a0001c0047t0001g0007 a0005c0026t0001g0002 a0008c0018t0001g0002 a0008c0024t0001g0002 a0009c0017t0001g0040	65	364	0.1786	-49	c.665 others(68): Show c.6657+3624_6657+3672delCTCTTTATATTTTAATATTTGCTAAA TATTCTAAAATCATGTTTTATAT	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding	6/11			chr21	TogoVar
SOX11_chr2_5687384_5706385	5706336	GAGCAGGG others(42): Show GAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGAAGCTG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0176 a0001c0004t0176	a0001c0004t0176g0000 a0001c0004t0176g0000	1	434	0.0023	-49	c.12 others(62): Show c.12290_*12338delAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGA CTGGGGTGGAGAAGCTG	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4952		chr2	TogoVar
SPACA7_chr13_112371355_112439689	112383116	AAAAGAAA others(42): Show AAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	391	0.0026	-49	c.94+ others(64): Show c.94+6645_94+6693delAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAA	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPACA7_chr13_112371355_112439689	112408529	TACAAAAT others(42): Show TACAAAATCAATGTGCGAAAATCACAAGCATTCTTATACACCAATAACAG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00621.hp2 others(119): Show HG00323.hp1 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00741.hp1 HG01123.hp2 HG01168.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18612.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp2 NA18977.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0273 a0001c0001t0001g0348 others(116): Show a0001c0001t0001g0004 a0001c0001t0001g0273 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0381 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0003g0286 a0001c0001t0004g0204 a0002c0002t0001g0154	122	391	0.3120	-49	c.445 others(66): Show c.445+7371_445+7419delATCAATGTGCGAAAATCACAAGCATTCT TATACACCAATAACAGACAAA	SPACA7	ENSG00000153498.12	transcript	ENST00000283550.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA5_chr4_122918078_123324433	123015804	TGGGGGGC others(42): Show TGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(174): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01192.hp1 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA19000.hp1 NA19003.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0007 a0008	a0001c0001 a0001c0004 a0001c0005 others(5): Show a0001c0001 a0001c0004 a0001c0005 a0003c0003 a0004c0006 a0005c0007 a0007c0011 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0065 a0001c0001t0068 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0004t0002 a0001c0004t0011 a0001c0004t0013 a0001c0004t0031 a0001c0004t0032 a0001c0004t0069 a0001c0005t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0003c0003t0022 a0003c0003t0023 a0003c0003t0042 a0003c0003t0055 a0004c0006t0054 a0004c0006t0056 a0005c0007t0064 a0005c0007t0066 a0007c0011t0002 a0008c0010t0002	a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 others(174): Show a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0107 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0230 a0001c0001t0002g0235 a0001c0001t0002g0255 a0001c0001t0003g0066 a0001c0001t0003g0182 a0001c0001t0003g0221 a0001c0001t0003g0232 a0001c0001t0003g0249 a0001c0001t0004g0196 a0001c0001t0004g0228 a0001c0001t0005g0028 a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0005g0070 a0001c0001t0006g0003 a0001c0001t0007g0177 a0001c0001t0007g0198 a0001c0001t0007g0259 a0001c0001t0008g0017 a0001c0001t0011g0178 a0001c0001t0013g0071 a0001c0001t0015g0181 a0001c0001t0016g0044 a0001c0001t0016g0213 a0001c0001t0018g0184 a0001c0001t0019g0001 a0001c0001t0019g0002 a0001c0001t0020g0052 a0001c0001t0020g0210 a0001c0001t0021g0179 a0001c0001t0021g0180 a0001c0001t0024g0029 a0001c0001t0024g0048 a0001c0001t0025g0067 a0001c0001t0025g0069 a0001c0001t0028g0025 a0001c0001t0037g0153 a0001c0001t0038g0154 a0001c0001t0040g0248 a0001c0001t0044g0236 a0001c0001t0045g0215 a0001c0001t0046g0183 a0001c0001t0047g0225 a0001c0001t0048g0030 a0001c0001t0050g0190 a0001c0001t0058g0226 a0001c0001t0060g0081 a0001c0001t0061g0047 a0001c0001t0062g0237 a0001c0001t0063g0053 a0001c0001t0065g0063 a0001c0001t0068g0056 a0001c0001t0072g0045 a0001c0001t0073g0019 a0001c0001t0074g0076 a0001c0001t0075g0260 a0001c0004t0002g0142 a0001c0004t0002g0145 a0001c0004t0011g0148 a0001c0004t0011g0149 a0001c0004t0013g0144 a0001c0004t0031g0147 a0001c0004t0032g0146 a0001c0004t0069g0143 a0001c0005t0002g0020 a0001c0005t0002g0073 a0001c0005t0002g0074 a0001c0005t0002g0075 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0002g0015 a0003c0003t0005g0005 a0003c0003t0022g0009 a0003c0003t0022g0013 a0003c0003t0023g0007 a0003c0003t0023g0008 a0003c0003t0042g0006 a0003c0003t0055g0012 a0004c0006t0054g0004 a0004c0006t0056g0014 a0005c0007t0064g0256 a0005c0007t0066g0254 a0007c0011t0002g0018 a0008c0010t0002g0036	177	262	0.6756	-49	c.187 others(70): Show c.1870-12350_1870-12302delTGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGA	SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA6_chr1_48290373_48477204	48382803	GGGGGCTG others(42): Show GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	322	0.0031	-49	c.909 others(66): Show c.909+2457_909+2505delTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGTCAGCCCC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPATA6_chr1_48290373_48477204	48382812	CCCCCCCC others(42): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02055.hp1 HG01496.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0189 a0001c0001t0013g0163 a0001c0001t0002g0189 a0001c0001t0013g0163	2	322	0.0062	-49	c.909 others(66): Show c.909+2448_909+2496delTCAGCCCCCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGG	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPATA6_chr1_48290373_48477204	48383135	ACCCCCCA others(42): Show ACCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGAC	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19043.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0096 a0001c0001t0023g0099 a0001c0001t0023g0096 a0001c0001t0023g0099	2	322	0.0062	-49	c.909 others(66): Show c.909+2125_909+2173delGTCAGCCCCCCGCCCGGCCAGCCGCCCA GTCCGGGAGGGAGGTGGGGGG	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPCS2_chr11_74944266_74984033	74961574	TCTGTTCA others(42): Show TCTGTTCACCCAGGCTAGAGTGCAATGGCACCATCTCGGCTCACTGCAAC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	378	0.0027	-49	c.115 others(66): Show c.115-3457_115-3409delGTTCACCCAGGCTAGAGTGCAATGGCAC CATCTCGGCTCACTGCAACCT	SPCS2	ENSG00000118363.13	transcript	ENST00000263672.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPDYA_chr2_28805834_28855610	28819836	AAAAAAAA others(42): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18965.hp2 NA18971.hp1 HG02080.hp2 NA18965.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0081 a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0081	3	338	0.0089	-49	c.294 others(64): Show c.294+732_294+780delAAAAAAAAAAAAATATATATATATATATAT ATATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPG7_chr16_89503403_89562766	89541008	CTAGAAGA others(42): Show CTAGAAGAGCTGAAACTGGTGTATCCTTATCACGGTGTTGTACGCAGAAA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	358	0.0028	-49	c.132 others(68): Show c.1325-3552_1325-3504delGTACGCAGAAATAGAAGAGCTGAAAC TGGTGTATCCTTATCACGGTGTT	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPG7_chr16_89503403_89562766	89541096	GTACGCAG others(42): Show GTACGCAGAAATAGAAGAGCTGAAACTGGTGTATCCTTATCACGGTGTTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(141): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18945.hp2 NA18950.hp1 NA18953.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18972.hp1 NA18975.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18991.hp1 NA18994.hp2 NA18995.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19030.hp2 NA19054.hp1 NA19056.hp1 NA19064.hp2 NA19077.hp2 NA19083.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0008 a0009	a0001c0001 a0001c0004 a0001c0005 others(8): Show a0001c0001 a0001c0004 a0001c0005 a0001c0016 a0002c0002 a0002c0015 a0004c0007 a0005c0008 a0006c0018 a0008c0010 a0009c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0004t0001 a0001c0005t0005 a0001c0005t0009 a0001c0005t0010 a0001c0016t0001 a0002c0002t0002 a0002c0002t0006 a0002c0015t0002 a0004c0007t0001 a0005c0008t0002 a0006c0018t0001 a0008c0010t0001 a0009c0014t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(137): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0135 a0001c0001t0001g0196 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0333 a0001c0001t0001g0338 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0219 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0257 a0001c0001t0002g0337 a0001c0001t0007g0011 a0001c0001t0008g0306 a0001c0004t0001g0009 a0001c0004t0001g0299 a0001c0004t0001g0308 a0001c0005t0005g0301 a0001c0005t0005g0304 a0001c0005t0009g0339 a0001c0005t0010g0235 a0001c0016t0001g0287 a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0010 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0041 a0002c0002t0002g0073 a0002c0002t0002g0350 a0002c0002t0006g0001 a0002c0015t0002g0040 a0004c0007t0001g0296 a0004c0007t0001g0297 a0005c0008t0002g0318 a0006c0018t0001g0243 a0008c0010t0001g0237 a0009c0014t0001g0259	144	358	0.4022	-49	c.132 others(68): Show c.1325-3446_1325-3398delAAATAGAAGAGCTGAAACTGGTGTAT CCTTATCACGGTGTTCTACGCAG	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPON2_chr4_1161932_1177583	1168204	ATTTCCAT others(42): Show ATTTCCATGTTTCCAAAGCAAAGTGAAAACACCTCTTTTGCACCCCACAG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0068 a0005c0005t0001g0068	1	432	0.0023	-49	c.812 others(64): Show c.812-597_812-549delCTGTGGGGTGCAAAAGAGGTGTTTTCACTT TGCTTTGGAAACATGGAAA	SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding	5/5			chr4	TogoVar
SPPL2B_chr19_2323684_2360095	2348806	ACACTCGT others(42): Show ACACTCGTGTTCTCATTCGCTTGATTCCATTCTCTCCCTCCACACACACT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	414	0.0024	-49	c.135 others(68): Show c.1355-2624_1355-2576delTCGTGTTCTCATTCGCTTGATTCCAT TCTCTCCCTCCACACACACTCAC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2348996	ACGCTCTC others(42): Show ACGCTCTCATTCGCTTGATTCCGTTCTCTCTCTCTCCACACACACTCACG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00735.hp1 others(37): Show HG00323.hp1 HG00639.hp2 HG00735.hp1 HG01261.hp2 HG01496.hp2 HG01516.hp1 HG01978.hp1 HG02004.hp1 HG02040.hp1 HG02273.hp2 HG02300.hp2 HG02602.hp2 HG02683.hp2 HG02738.hp2 HG03017.hp2 HG03041.hp2 HG03491.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp2 NA18940.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18980.hp2 NA18990.hp1 NA19010.hp1 NA19011.hp1 NA19057.hp1 NA19057.hp2 NA19082.hp1 NA19082.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0003c0006 a0004c0012	a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 others(5): Show a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0013 a0002c0005t0004 a0003c0006t0001 a0004c0012t0001	a0001c0001t0002g0260 a0001c0001t0002g0273 a0001c0002t0001g0066 others(31): Show a0001c0001t0002g0260 a0001c0001t0002g0273 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0003t0001g0200 a0001c0004t0001g0003 a0001c0004t0001g0020 a0001c0004t0001g0053 a0001c0004t0001g0078 a0001c0004t0001g0080 a0001c0004t0001g0101 a0001c0004t0001g0103 a0001c0004t0001g0105 a0001c0004t0001g0106 a0001c0004t0001g0107 a0001c0004t0001g0117 a0001c0004t0001g0127 a0001c0004t0013g0020 a0001c0004t0013g0050 a0002c0005t0004g0183 a0003c0006t0001g0003 a0003c0006t0001g0077 a0003c0006t0001g0079 a0003c0006t0001g0081 a0003c0006t0001g0082 a0003c0006t0001g0083 a0003c0006t0001g0084 a0003c0006t0001g0085 a0003c0006t0001g0137 a0003c0006t0001g0138 a0004c0012t0001g0100 a0004c0012t0001g0109 a0004c0012t0001g0110 a0004c0012t0001g0111	40	414	0.0966	-49	c.135 others(68): Show c.1355-2408_1355-2360delTCTCTCCACACACACTCACGCGCTCT CATTCGCTTGATTCCGTTCTCTC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2349469	TTCTCTCT others(42): Show TTCTCTCTCTCCACACACACTCGTGTTCTCATTCGCCTGATTCCGTTCTC	T T	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19010.hp1 NA18980.hp2 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0066 a0001c0002t0001g0067	2	414	0.0048	-49	c.135 others(68): Show c.1355-1958_1355-1910delTCTCCACACACACTCGTGTTCTCATT CGCCTGATTCCGTTCTCTCTCTC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPRY3_chrX_155607586_155787459	155650592	GTTTATTA others(42): Show GTTTATTAATTGGGTTTTTCAAGTCCTCTACATATTGAATTTTTTGTACA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0093 a0001c0001t0039g0093	1	231	0.0043	-49	c.-28 others(70): Show c.-282+37949_-282+37997delATTAATTGGGTTTTTCAAGTCCTC TACATATTGAATTTTTTGTACATTT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPTBN1_chr2_54451327_54676446	54486064	TGCCCGGC others(42): Show TGCCCGGCCAGCCACCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCAC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0264 a0001c0004t0004g0265 a0001c0004t0004g0264 a0001c0004t0004g0265	2	370	0.0054	-49	c.-48 others(68): Show c.-48+29559_-48+29607delACCCTGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCACGCCCGGCCAGCC	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SRGAP2B_chr1_144882288_145100328	144883930	AAAAAGCC others(42): Show AAAAAGCCGAGGCGGGGTGGGGGGGGGGGAGGGGGGGAAGCCGCGGCGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02523.hp1 HG02015.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0056 a0001c0001t0001g0024 a0001c0001t0001g0056	2	56	0.0357	-49	c.81 others(60): Show c.8181_*8229delGCCGCCGCGGCTTCCCCCCCTCCCCCCCCCCCAC CCCGCCTCGGCTTTT	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3357		chr1	TogoVar
SRSF12_chr6_89090959_89123071	89093516	CAAAACAG others(42): Show CAAAACAGGTGGTCACAAGCAAATACTAAGAATTCTGGATCGTGTAAACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0049 a0001c0001t0017g0049	1	376	0.0027	-49	c.50 others(60): Show c.5013_*5061delTGTTTACACGATCCAGAATTCTTAGTATTTGCTT GTGACCACCTGTTTT	SRSF12	ENSG00000154548.9	transcript	ENST00000452027.3	protein_coding		2442		chr6	TogoVar
SSBP2_chr5_81407804_81756097	81432933	GGGGGGGG others(42): Show GGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0186 a0001c0001t0025g0186	1	206	0.0049	-49	c.982 others(66): Show c.982-4299_982-4251delACCTCCCTCCCGGACGGGGCGGCTGGCT GGGCGGGGGGCTGACCCCCCC	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	15/16			chr5	TogoVar

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Search Results (Total: 10000 hits)