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
PTPRG_chr3_61556571_62302609	61887123	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(7): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00738.hp2 HG01169.hp1 HG01496.hp1 HG02109.hp1 HG02300.hp1 HG02683.hp1 HG04199.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0008	a0001c0001 a0002c0002 a0003c0004 others(3): Show a0001c0001 a0002c0002 a0003c0004 a0005c0010 a0005c0011 a0008c0017	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0003c0004t0001 a0005c0010t0002 a0005c0011t0002 a0008c0017t0002	a0001c0001t0001g0053 a0001c0001t0001g0082 a0001c0001t0001g0085 others(7): Show a0001c0001t0001g0053 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0003g0024 a0002c0002t0002g0020 a0002c0002t0002g0092 a0003c0004t0001g0070 a0005c0010t0002g0058 a0005c0011t0002g0080 a0008c0017t0002g0013	10	94	0.1064	-32	c.191 others(53): Show c.191-102485_191-102454delATATATATATATATATATATATAT ATATATAT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62092063	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	94	0.0106	-32	c.615 others(51): Show c.615+13841_615+13872delCACACACACACACACACACACACACA CACACA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRH_chr19_55176247_55214501	55183799	CTTGCAAA others(25): Show CTTGCAAAACACTTTCATCACCCCTAAAGCAGA	C C	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0229 a0002c0002t0002g0229	1	378	0.0027	-32	c.306 others(51): Show c.3062+1671_3063-1649delTCTGCTTTAGGGGTGATGAAAGTGTT TTGCAA	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	18/19			chr19	TogoVar
PTPRK_chr6_127963785_128525599	128435086	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGAAGGAAGGCAGGAAGGC	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0024 a0001c0003t0001g0024	1	53	0.0189	-32	c.101 others(51): Show c.101-37430_101-37399delGCCTTCCTGCCTTCCTTCCTTCCTTC CTTCCT	PTPRK	ENSG00000152894.15	transcript	ENST00000368226.9	protein_coding	1/29			chr6	TogoVar
PTPRK_chr6_127963785_128525599	128435090	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGAAGGCAGGAAGGCAGGC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA21309.hp2 HG03209.hp1 NA21309.hp2	a0001 a0001	a0001c0007 a0001c0013 a0001c0007 a0001c0013	a0001c0007t0006 a0001c0013t0002 a0001c0007t0006 a0001c0013t0002	a0001c0007t0006g0001 a0001c0013t0002g0045 a0001c0007t0006g0001 a0001c0013t0002g0045	2	53	0.0377	-32	c.101 others(51): Show c.101-37434_101-37403delGCCTGCCTTCCTGCCTTCCTTCCTTC CTTCCT	PTPRK	ENSG00000152894.15	transcript	ENST00000368226.9	protein_coding	1/29			chr6	TogoVar
PTPRM_chr18_7562316_8411856	8240804	GAGAGAGA others(25): Show GAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18612.hp2 NA18959.hp2 HG02040.hp1 NA18612.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0051 a0001c0001t0002g0031 a0001c0002t0001g0052 a0001c0001t0001g0051 a0001c0001t0002g0031 a0001c0002t0001g0052	3	80	0.0375	-32	c.230 others(51): Show c.2301-3250_2301-3219delGAGAGAGAGAGAGAGAGAGAAAGAAA GAAAGA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	14/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRN_chr2_219284623_219314401	219313976	GAGACCGA others(25): Show GAGACCGAGAACCCACCAATTCTGGACACACTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0144 a0001c0002t0002g0144	1	414	0.0024	-32	c.-46 others(43): Show c.-4676_-4645delTAGTGTGTCCAGAATTGGTGGGTTCTCGGTCT	PTPRN	ENSG00000054356.14	transcript	ENST00000295718.7	protein_coding		4576		chr2	TogoVar
PTPRO_chr12_15317508_15603331	15513108	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01074.hp1 HG01884.hp1 others(7): Show HG00597.hp1 HG01074.hp1 HG01884.hp1 HG01934.hp1 HG02258.hp2 HG02559.hp1 HG02630.hp1 HG03195.hp2 HG03516.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0008 a0001c0003t0001 a0001c0003t0007 a0001c0006t0004	a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0138 others(7): Show a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0003g0060 a0001c0002t0001g0132 a0001c0002t0008g0027 a0001c0003t0001g0026 a0001c0003t0007g0164 a0001c0006t0004g0045	10	164	0.0610	-32	c.146 others(51): Show c.1465-2386_1465-2355delGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAG	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRO_chr12_15317508_15603331	15518185	GCCAAGCC others(25): Show GCCAAGCCTTGGGGCTTGCACCCTCTGAAGCCA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	164	0.0061	-32	c.177 others(51): Show c.1779+1265_1779+1296delAGCCTTGGGGCTTGCACCCTCTGAAG CCACCA	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRS_chr19_5200508_5345812	5262694	CCTTGTCT others(25): Show CCTTGTCTCTTTTCCTCTTTTCCTTTGGGTGGA	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG04199.hp2 HG03704.hp2 HG04199.hp2	a0001 a0001	a0001c0004 a0001c0033 a0001c0004 a0001c0033	a0001c0004t0005 a0001c0033t0001 a0001c0004t0005 a0001c0033t0001	a0001c0004t0005g0172 a0001c0033t0001g0186 a0001c0004t0005g0172 a0001c0033t0001g0186	2	276	0.0073	-32	c.577 others(47): Show c.577+238_577+269delTCCACCCAAAGGAAAAGAGGAAAAGAGACA AG	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	6/37			chr19	TogoVar
PTPRT_chr20_42067756_43194906	42489008	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02809.hp1 HG02886.hp2 others(4): Show HG01257.hp2 HG02809.hp1 HG02886.hp2 HG02976.hp1 HG02976.hp2 HG03471.hp1 NA19240.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0001c0023 a0001c0027 others(3): Show a0001c0002 a0001c0023 a0001c0027 a0002c0001 a0002c0004 a0006c0019	a0001c0002t0006 a0001c0023t0007 a0001c0027t0028 others(3): Show a0001c0002t0006 a0001c0023t0007 a0001c0027t0028 a0002c0001t0025 a0002c0004t0002 a0006c0019t0008	a0001c0002t0006g0036 a0001c0002t0006g0039 a0001c0023t0007g0034 others(4): Show a0001c0002t0006g0036 a0001c0002t0006g0039 a0001c0023t0007g0034 a0001c0027t0028g0049 a0002c0001t0025g0002 a0002c0004t0002g0005 a0006c0019t0008g0050	7	62	0.1129	-32	c.115 others(53): Show c.1154-16478_1154-16447delCACACACACACACACACACACACA CACACACA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRZ1_chr7_121868161_122067036	121913723	GGGGAAAG others(25): Show GGGGAAAGTTTTCTCTCATTTCTTTTCCATTGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01168.hp2 HG01169.hp2 others(1): Show HG00735.hp2 HG01168.hp2 HG01169.hp2 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 others(1): Show a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0282	4	312	0.0128	-32	c.59- others(49): Show c.59-14431_59-14400delGGAAAGTTTTCTCTCATTTCTTTTCCAT TGAG	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTRHD1_chr2_24784728_24798391	24791012	GCTCCCGA others(25): Show GCTCCCGAGTTCAAGCAATTCTCCTGCCTCAGC	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	408	0.0025	-32	c.253 others(47): Show c.253-463_253-432delGCTGAGGCAGGAGAATTGCTTGAACTCGGG AG	PTRHD1	ENSG00000184924.6	transcript	ENST00000328379.6	protein_coding	1/1			chr2	TogoVar
PUS7_chr7_105451503_105527271	105514497	AGGAGGCT others(25): Show AGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0237	1	350	0.0029	-32	c.-32 others(49): Show c.-32-5985_-32-5954delCGGGTTCACGCCATTCTCCTGCCTCAGC CTCC	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PXDNL_chr8_51314577_51814445	51565301	AATAAATA others(25): Show AATAAATAAATAAATAAATAAATAGATAGATAG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp2 HG02615.hp1 others(5): Show HG00741.hp2 HG01884.hp2 HG02615.hp1 HG02630.hp2 HG02886.hp2 HG02897.hp1 NA18522.hp1 NA19240.hp1	a0004 a0009 a0021 a0004 a0009 a0021	a0004c0004 a0009c0012 a0021c0022 a0004c0004 a0009c0012 a0021c0022	a0004c0004t0001 a0004c0004t0003 a0009c0012t0003 others(1): Show a0004c0004t0001 a0004c0004t0003 a0009c0012t0003 a0021c0022t0003	a0004c0004t0001g0037 a0004c0004t0001g0049 a0004c0004t0001g0050 others(5): Show a0004c0004t0001g0037 a0004c0004t0001g0049 a0004c0004t0001g0050 a0004c0004t0001g0065 a0004c0004t0001g0076 a0004c0004t0003g0001 a0009c0012t0003g0012 a0021c0022t0003g0004	8	122	0.0656	-32	c.309 others(49): Show c.309-8422_309-8391delCTATCTATCTATTTATTTATTTATTTAT TTAT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	3/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51577995	GAAAGAGG others(25): Show GAAAGAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0050 a0004c0004t0001g0050	1	122	0.0082	-32	c.308 others(51): Show c.308+14600_308+14631delTCCTTCCTTCCTTCCTTCCTTCCTTC CTCTTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	3/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51744028	GGGAAGGA others(25): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19086.hp1 NA18979.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0025 a0001c0001t0001g0026	2	122	0.0164	-32	c.164 others(51): Show c.164+65121_164+65152delTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCC	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51744962	AAGAAAGA others(25): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGG	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02145.hp1 HG02965.hp1 others(3): Show HG01169.hp2 HG02145.hp1 HG02965.hp1 NA18966.hp2 NA18984.hp2 NA19003.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0046 a0002c0002 others(1): Show a0001c0001 a0001c0046 a0002c0002 a0005c0018	a0001c0001t0001 a0001c0001t0002 a0001c0046t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0046t0001 a0002c0002t0002 a0005c0018t0001	a0001c0001t0001g0022 a0001c0001t0002g0110 a0001c0046t0001g0020 others(3): Show a0001c0001t0001g0022 a0001c0001t0002g0110 a0001c0046t0001g0020 a0002c0002t0002g0112 a0002c0002t0002g0117 a0005c0018t0001g0024	6	122	0.0492	-32	c.164 others(51): Show c.164+64187_164+64218delCCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDN_chr2_1626887_1749515	1711282	TCTCCACC others(25): Show TCTCCACCAGCACCCACTCTCCACCAGCACCCG	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0003 a0001c0019t0003	a0001c0019t0003g0010 a0001c0019t0003g0010	1	322	0.0031	-32	c.201 others(51): Show c.201-18180_201-18149delCGGGTGCTGGTGGAGAGTGGGTGCTG GTGGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1711600	TCTCCACC others(25): Show TCTCCACCAGCACCCACTCTCCACCAGCACCCG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(91): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG01099.hp1 HG01255.hp2 HG01361.hp1 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03453.hp2 HG03491.hp2 HG03579.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18952.hp2 NA18955.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18991.hp1 NA18997.hp1 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19012.hp2 NA19056.hp1 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA20129.hp1 NA20805.hp1 NA21309.hp1	a0001 a0005 a0007 others(2): Show a0001 a0005 a0007 a0008 a0013	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0014 a0001c0016 a0001c0023 a0001c0026 a0001c0033 a0001c0040 a0001c0044 a0005c0036 a0007c0043 a0008c0025 a0013c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0031 a0001c0001t0033 a0001c0002t0002 a0001c0002t0003 a0001c0002t0032 a0001c0003t0001 a0001c0003t0002 a0001c0003t0012 a0001c0004t0004 a0001c0006t0004 a0001c0006t0008 a0001c0007t0006 a0001c0008t0002 a0001c0014t0013 a0001c0016t0005 a0001c0023t0004 a0001c0026t0001 a0001c0033t0001 a0001c0040t0030 a0001c0044t0025 a0005c0036t0003 a0007c0043t0006 a0008c0025t0020 a0013c0021t0002	a0001c0001t0001g0034 a0001c0001t0001g0078 a0001c0001t0001g0138 others(91): Show a0001c0001t0001g0034 a0001c0001t0001g0078 a0001c0001t0001g0138 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0222 a0001c0001t0001g0243 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0299 a0001c0001t0001g0313 a0001c0001t0002g0030 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0192 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0213 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0249 a0001c0001t0002g0262 a0001c0001t0002g0288 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0003g0180 a0001c0001t0003g0196 a0001c0001t0005g0175 a0001c0001t0009g0178 a0001c0001t0009g0181 a0001c0001t0015g0037 a0001c0001t0015g0316 a0001c0001t0031g0215 a0001c0001t0033g0185 a0001c0002t0002g0077 a0001c0002t0003g0051 a0001c0002t0003g0097 a0001c0002t0003g0169 a0001c0002t0003g0183 a0001c0002t0003g0187 a0001c0002t0003g0197 a0001c0002t0003g0217 a0001c0002t0003g0296 a0001c0002t0003g0314 a0001c0002t0032g0289 a0001c0003t0001g0263 a0001c0003t0001g0283 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0002g0012 a0001c0003t0002g0033 a0001c0003t0002g0038 a0001c0003t0002g0317 a0001c0003t0012g0255 a0001c0004t0004g0245 a0001c0004t0004g0306 a0001c0004t0004g0311 a0001c0006t0004g0232 a0001c0006t0008g0315 a0001c0007t0006g0076 a0001c0008t0002g0298 a0001c0014t0013g0248 a0001c0016t0005g0001 a0001c0023t0004g0231 a0001c0026t0001g0261 a0001c0033t0001g0216 a0001c0040t0030g0088 a0001c0044t0025g0210 a0005c0036t0003g0036 a0007c0043t0006g0062 a0008c0025t0020g0172 a0013c0021t0002g0251	94	322	0.2919	-32	c.201 others(51): Show c.201-18498_201-18467delCGGGTGCTGGTGGAGAGTGGGTGCTG GTGGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXYLP1_chr3_141226825_141299924	141248664	TACACACA others(25): Show TACACACACGTGTATATATACACACGTATATAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0310 a0001c0003t0002g0310	1	384	0.0026	-32	c.-53 others(51): Show c.-53-11452_-53-11421delACGTGTATATATACACACGTATATAC ACACAC	PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PXYLP1_chr3_141226825_141299924	141248726	CACACACG others(25): Show CACACACGTGTATATATACACACGTATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA18983.hp2 HG01515.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0337 a0001c0001t0001g0111 a0001c0001t0001g0337	2	384	0.0052	-32	c.-53 others(51): Show c.-53-11390_-53-11359delGTGTATATATACACACGTATATATAT ACACAC	PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PYGM_chr11_64741398_64764974	64762075	TCGGGAGG others(25): Show TCGGGAGGCTGAGGCAGGAGAATCACTTGAGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	350	0.0029	-32	c.-22 others(43): Show c.-2209_-2178delGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCG	PYGM	ENSG00000068976.14	transcript	ENST00000164139.4	protein_coding		2102		chr11	TogoVar
QKI_chr6_163409718_163583592	163553062	TTTTATTT others(25): Show TTTTATTTATTTATTTATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02451.hp1 others(10): Show HG02055.hp1 HG02145.hp1 HG02451.hp1 HG02572.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG06807.hp2 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0046 a0001c0001t0047 others(2): Show a0001c0001t0009 a0001c0001t0046 a0001c0001t0047 a0001c0001t0088 a0001c0001t0094	a0001c0001t0009g0042 a0001c0001t0009g0043 a0001c0001t0009g0045 others(10): Show a0001c0001t0009g0042 a0001c0001t0009g0043 a0001c0001t0009g0045 a0001c0001t0009g0070 a0001c0001t0009g0074 a0001c0001t0009g0075 a0001c0001t0009g0077 a0001c0001t0046g0079 a0001c0001t0046g0080 a0001c0001t0047g0073 a0001c0001t0047g0078 a0001c0001t0088g0044 a0001c0001t0094g0076	13	302	0.0431	-32	c.547 others(49): Show c.547-8896_547-8865delATTTATTTATTTATTTATTTATTTATTT ATTT	QKI	ENSG00000112531.17	transcript	ENST00000361752.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
RAB11FIP4_chr17_31386675_31543211	31445550	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02572.hp1 HG02922.hp2 others(4): Show HG01192.hp1 HG02572.hp1 HG02922.hp2 HG03195.hp1 HG03540.hp1 NA18906.hp2 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0011 a0005c0014 a0001c0001 a0001c0011 a0005c0014	a0001c0001t0002 a0001c0001t0007 a0001c0001t0020 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0020 a0001c0001t0069 a0001c0001t0070 a0001c0011t0001 a0005c0014t0066	a0001c0001t0002g0172 a0001c0001t0007g0205 a0001c0001t0020g0091 others(4): Show a0001c0001t0002g0172 a0001c0001t0007g0205 a0001c0001t0020g0091 a0001c0001t0069g0055 a0001c0001t0070g0171 a0001c0011t0001g0168 a0005c0014t0066g0180	7	310	0.0226	-32	c.336 others(51): Show c.336+11430_336+11461delATATATATATATATATATATATATAT ATTTTT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB11FIP4_chr17_31386675_31543211	31445552	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02895.hp1 HG03516.hp1 others(3): Show HG00280.hp2 HG02895.hp1 HG03516.hp1 NA18985.hp1 NA19057.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0002t0004	a0001c0001t0001g0188 a0001c0001t0002g0310 a0001c0001t0005g0197 others(3): Show a0001c0001t0001g0188 a0001c0001t0002g0310 a0001c0001t0005g0197 a0001c0001t0007g0183 a0001c0001t0011g0001 a0001c0002t0004g0266	6	310	0.0194	-32	c.336 others(51): Show c.336+11432_336+11463delATATATATATATATATATATATATAT TTTTTT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB11FIP4_chr17_31386675_31543211	31445554	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0053 a0001c0001t0005g0053	1	310	0.0032	-32	c.336 others(51): Show c.336+11434_336+11465delATATATATATATATATATATATATTT TTTTTT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB2A_chr8_60511987_60628644	60548805	GCCGGGCG others(25): Show GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	358	0.0028	-32	c.47- others(49): Show c.47-10042_47-10011delGCGGGGGGCTGACCCCCCCACCTCCCTC CCGG	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAB2A_chr8_60511987_60628644	60565676	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG01884.hp1 others(8): Show HG00597.hp2 HG00621.hp1 HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02280.hp1 HG02559.hp1 HG03130.hp1 HG03139.hp2 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0001 a0001c0001t0004 a0001c0001t0011	a0001c0001t0001g0230 a0001c0001t0004g0075 a0001c0001t0004g0076 others(8): Show a0001c0001t0001g0230 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0327 a0001c0001t0004g0328 a0001c0001t0004g0332 a0001c0001t0004g0339 a0001c0001t0011g0150	11	358	0.0307	-32	c.119 others(49): Show c.119-6349_119-6318delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAB3GAP1_chr2_135047292_135175710	135081348	ATATATAT others(25): Show ATATATATATATATACACACACGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03540.hp1 NA20805.hp1 HG01255.hp1 HG03540.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0067 a0001c0001t0001g0071 a0002c0002t0001g0112 a0001c0001t0001g0067 a0001c0001t0001g0071 a0002c0002t0001g0112	3	280	0.0107	-32	c.151 others(49): Show c.151-9638_151-9607delATACACACACGTGTGTGTGTGTATATAT ATAT	RAB3GAP1	ENSG00000115839.19	transcript	ENST00000264158.13	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB3GAP2_chr1_220143293_220277453	220277052	CACACAGA others(25): Show CACACAGAAATTATATTGAAGGGAGGGGATGAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	378	0.0027	-32	c.-47 others(43): Show c.-4747_-4716delTTCATCCCCTCCCTTCAATATAATTTCTGTGT	RAB3GAP2	ENSG00000118873.17	transcript	ENST00000358951.7	protein_coding		4600		chr1	TogoVar
RAB3IP_chr12_69733860_69828199	69824511	ATATATGT others(25): Show ATATATGTATATATATATGTATATATATGTATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(100): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp1 HG02602.hp2 HG02647.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03579.hp2 HG03834.hp2 HG03927.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18989.hp2 NA18999.hp2 NA19030.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19081.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0057 a0001c0001t0078 a0001c0001t0083 a0001c0001t0124 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0142 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0001t0154 a0001c0001t0155 a0001c0001t0156 a0001c0001t0158 a0001c0001t0160 a0001c0001t0161 a0001c0001t0166 a0001c0001t0168 a0001c0001t0182 a0001c0001t0183 a0001c0002t0014 a0001c0002t0040 a0002c0004t0046 a0002c0004t0141 a0002c0004t0143 a0002c0004t0144	a0001c0001t0001g0001 a0001c0001t0001g0118 a0001c0001t0001g0120 others(92): Show a0001c0001t0001g0001 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0028 a0001c0001t0002g0226 a0001c0001t0002g0292 a0001c0001t0002g0297 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0313 a0001c0001t0002g0331 a0001c0001t0002g0338 a0001c0001t0002g0345 a0001c0001t0002g0358 a0001c0001t0002g0363 a0001c0001t0008g0024 a0001c0001t0008g0269 a0001c0001t0008g0304 a0001c0001t0008g0305 a0001c0001t0008g0315 a0001c0001t0008g0319 a0001c0001t0008g0320 a0001c0001t0009g0006 a0001c0001t0009g0268 a0001c0001t0009g0279 a0001c0001t0009g0356 a0001c0001t0009g0357 a0001c0001t0012g0025 a0001c0001t0012g0285 a0001c0001t0012g0295 a0001c0001t0012g0312 a0001c0001t0012g0342 a0001c0001t0012g0343 a0001c0001t0013g0078 a0001c0001t0017g0025 a0001c0001t0017g0267 a0001c0001t0017g0283 a0001c0001t0017g0299 a0001c0001t0018g0023 a0001c0001t0018g0306 a0001c0001t0025g0249 a0001c0001t0026g0022 a0001c0001t0026g0310 a0001c0001t0026g0348 a0001c0001t0027g0303 a0001c0001t0027g0318 a0001c0001t0027g0321 a0001c0001t0046g0347 a0001c0001t0047g0286 a0001c0001t0048g0309 a0001c0001t0048g0341 a0001c0001t0049g0021 a0001c0001t0050g0282 a0001c0001t0050g0287 a0001c0001t0051g0317 a0001c0001t0051g0362 a0001c0001t0057g0130 a0001c0001t0078g0031 a0001c0001t0083g0241 a0001c0001t0124g0180 a0001c0001t0138g0298 a0001c0001t0139g0022 a0001c0001t0140g0029 a0001c0001t0142g0330 a0001c0001t0145g0360 a0001c0001t0146g0273 a0001c0001t0147g0291 a0001c0001t0148g0296 a0001c0001t0149g0293 a0001c0001t0150g0300 a0001c0001t0151g0289 a0001c0001t0152g0340 a0001c0001t0153g0027 a0001c0001t0154g0288 a0001c0001t0155g0277 a0001c0001t0156g0350 a0001c0001t0158g0272 a0001c0001t0160g0333 a0001c0001t0161g0311 a0001c0001t0166g0339 a0001c0001t0168g0314 a0001c0001t0182g0240 a0001c0001t0183g0337 a0001c0002t0014g0084 a0001c0002t0040g0087 a0002c0004t0046g0278 a0002c0004t0141g0266 a0002c0004t0143g0280 a0002c0004t0144g0281	103	402	0.2562	-32	c.90 others(43): Show c.9066_*9097delTATATGTATATATATATGTATATATATGTATG	RAB3IP	ENSG00000127328.22	transcript	ENST00000247833.12	protein_coding		1313		chr12	TogoVar
RAB44_chr6_36692826_36738184	36696584	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	428	0.0023	-32	c.-13 others(43): Show c.-1343_-1312delTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding		1241		chr6	TogoVar
RAB44_chr6_36692826_36738184	36734313	CAGAGAGA others(25): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp2 others(54): Show HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG01070.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01255.hp1 HG01257.hp1 HG01358.hp1 HG01433.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp2 HG02027.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02896.hp1 HG02976.hp2 HG03516.hp1 HG03654.hp1 HG06807.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18957.hp2 NA18960.hp1 NA18970.hp2 NA18972.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18993.hp2 NA19002.hp1 NA19004.hp2 NA19009.hp1 NA19043.hp1 NA19054.hp1 NA19060.hp2 NA19066.hp2 NA19074.hp1 NA19083.hp2 NA19084.hp1 NA19088.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0009 a0021	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0036 a0002c0009 a0003c0006 a0006c0012 a0009c0017 a0021c0030	a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 a0001c0004t0001 a0001c0036t0015 a0002c0009t0001 a0003c0006t0004 a0006c0012t0001 a0009c0017t0001 a0021c0030t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 others(44): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0289 a0001c0001t0001g0301 a0001c0002t0001g0142 a0001c0002t0013g0336 a0001c0004t0001g0041 a0001c0036t0015g0012 a0002c0009t0001g0150 a0003c0006t0004g0004 a0003c0006t0004g0014 a0003c0006t0004g0021 a0003c0006t0004g0049 a0003c0006t0004g0053 a0003c0006t0004g0056 a0003c0006t0004g0061 a0003c0006t0004g0074 a0003c0006t0004g0087 a0006c0012t0001g0024 a0006c0012t0001g0194 a0009c0017t0001g0007 a0009c0017t0001g0019 a0021c0030t0001g0141	57	428	0.1332	-32	c.22 others(43): Show c.2221_*2252delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding		1130		chr6	TogoVar
RAB5C_chr17_42119979_42159989	42144925	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	306	0.0033	-32	c.-89 others(49): Show c.-89+9936_-89+9967delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RAB5C	ENSG00000108774.15	transcript	ENST00000346213.9	protein_coding	1/5			chr17	TogoVar
RAB5IF_chr20_36600779_36617557	36609187	ACACACAC others(25): Show ACACACACGCACACACGCACACACGCACACACG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02896.hp1 HG02897.hp1 others(2): Show HG02818.hp2 HG02896.hp1 HG02897.hp1 HG03471.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0018 a0001c0001t0001g0019	5	398	0.0126	-32	c.219 others(47): Show c.219-406_219-375delGCACACACGCACACACGCACACACGCACAC AC	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB6B_chr3_133819235_133900882	133841161	CGCACACA others(25): Show CGCACACACATGCGTGTGCACACACATGCGTGT	C C	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	386	0.0026	-32	c.289 others(46): Show c.289+92_289+123delACACGCATGTGTGTGCACACGCATGTGTGTG C	RAB6B	ENSG00000154917.11	transcript	ENST00000285208.9	protein_coding	4/7			chr3	TogoVar
RAB6B_chr3_133819235_133900882	133889388	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp2 HG01069.hp2 others(6): Show HG00140.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG02145.hp2 HG03209.hp1 HG03471.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 others(5): Show a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0026 a0001c0001t0027 a0001c0001t0046 a0001c0001t0086	a0001c0001t0009g0331 a0001c0001t0011g0328 a0001c0001t0013g0333 others(5): Show a0001c0001t0009g0331 a0001c0001t0011g0328 a0001c0001t0013g0333 a0001c0001t0014g0231 a0001c0001t0026g0329 a0001c0001t0027g0330 a0001c0001t0046g0011 a0001c0001t0086g0332	9	386	0.0233	-32	c.70+ others(47): Show c.70+5977_70+6008delTATATATATATATATATATATATATATATA TA	RAB6B	ENSG00000154917.11	transcript	ENST00000285208.9	protein_coding	1/7			chr3	TogoVar
RABEP1_chr17_5277284_5391340	5373693	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0192 a0001c0003t0003g0192	1	352	0.0028	-32	c.202 others(49): Show c.2025+252_2025+283delACACACACACACACACACACACACACAC ACAC	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
RABGAP1L_chr1_174154520_175000308	174854715	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00544.hp2 others(35): Show HG00140.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp2 HG00673.hp2 HG01358.hp1 HG01891.hp1 HG01943.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp2 HG02080.hp2 HG02132.hp2 HG02523.hp1 HG02602.hp1 HG03225.hp1 HG03491.hp2 HG03492.hp1 HG03834.hp1 HG04199.hp2 NA18522.hp2 NA18950.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18971.hp1 NA18980.hp2 NA18986.hp1 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19068.hp1 NA19081.hp1 NA19084.hp2 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0007 a0001c0001 a0001c0002 a0006c0007	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0002t0031 a0006c0007t0003	a0001c0001t0001g0196 a0001c0001t0003g0166 a0001c0002t0003g0010 others(35): Show a0001c0001t0001g0196 a0001c0001t0003g0166 a0001c0002t0003g0010 a0001c0002t0003g0025 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0178 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0002t0003g0183 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0190 a0001c0002t0003g0191 a0001c0002t0003g0192 a0001c0002t0003g0194 a0001c0002t0003g0195 a0001c0002t0003g0197 a0001c0002t0003g0202 a0001c0002t0003g0205 a0001c0002t0003g0206 a0001c0002t0003g0207 a0001c0002t0003g0210 a0001c0002t0031g0209 a0006c0007t0003g0208	38	272	0.1397	-32	c.234 others(53): Show c.2340+42769_2340+42800delTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1_chr9_122936020_123109866	122990786	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0170 a0001c0001t0093g0170	1	258	0.0039	-32	c.923 others(47): Show c.923+575_923+606delAAAAAAAAAATATATATATATATATATATA TA	RABGAP1	ENSG00000011454.18	transcript	ENST00000373647.9	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
RABGAP1_chr9_122936020_123109866	123103588	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00738.hp2 HG01175.hp2 others(8): Show HG00323.hp1 HG00738.hp2 HG01175.hp2 HG01496.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0010 a0001c0001t0033 a0001c0001t0008 a0001c0001t0010 a0001c0001t0033	a0001c0001t0008g0002 a0001c0001t0008g0059 a0001c0001t0008g0069 others(7): Show a0001c0001t0008g0002 a0001c0001t0008g0059 a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0008g0072 a0001c0001t0010g0060 a0001c0001t0010g0061 a0001c0001t0010g0080 a0001c0001t0010g0081 a0001c0001t0033g0001	11	258	0.0426	-32	c.39 others(41): Show c.393_*424delTATATATATATATATATATATATATATATATA	RABGAP1	ENSG00000011454.18	transcript	ENST00000373647.9	protein_coding	26/26	393	INFO_REALIGN_3_PRIME	chr9	TogoVar
RAD18_chr3_8872075_8968472	8959625	GGAAGGGA others(25): Show GGAAGGGAAAGTGGACAACTTGGAAAGAGAGAT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0258 a0001c0001t0006g0258	1	348	0.0029	-32	c.52- others(45): Show c.52-656_52-625delATCTCTCTTTCCAAGTTGTCCACTTTCCCTTC	RAD18	ENSG00000070950.10	transcript	ENST00000264926.7	protein_coding	1/12			chr3	TogoVar
RAD51B_chr14_67814779_68483093	68428707	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02970.hp1 HG03225.hp2 HG02258.hp2 HG02970.hp1 HG03225.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0005c0006 a0001c0001 a0001c0005 a0005c0006	a0001c0001t0001 a0001c0005t0001 a0005c0006t0001 a0001c0001t0001 a0001c0005t0001 a0005c0006t0001	a0001c0001t0001g0007 a0001c0005t0001g0009 a0005c0006t0001g0006 a0001c0001t0001g0007 a0001c0005t0001g0009 a0005c0006t0001g0006	3	84	0.0357	-32	c.957 others(51): Show c.957+17207_957+17238delTATATATATATATATATATATATATA TATATA	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RAD51B_chr14_67814779_68483093	68456869	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	84	0.0119	-32	c.958 others(51): Show c.958-11282_958-11251delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RADIL_chr7_4792055_4888716	4802326	GGCTGGGC others(25): Show GGCTGGGCCCCCTCCCCGGGTACCTCGGGGCAC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02886.hp2 HG03041.hp2 HG01891.hp1 HG02886.hp2 HG03041.hp2	a0012 a0012	a0012c0023 a0012c0042 a0012c0023 a0012c0042	a0012c0023t0008 a0012c0042t0008 a0012c0023t0008 a0012c0042t0008	a0012c0023t0008g0062 a0012c0023t0008g0063 a0012c0042t0008g0138 a0012c0023t0008g0062 a0012c0023t0008g0063 a0012c0042t0008g0138	3	292	0.0103	-32	c.250 others(49): Show c.2500-363_2500-332delGTGCCCCGAGGTACCCGGGGAGGGGGCC CAGC	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	11/14			chr7	TogoVar
RADIL_chr7_4792055_4888716	4803145	GGCTGGGT others(25): Show GGCTGGGTCCCCTCCCCGGGCACCTCGGGGCAC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG01361.hp1 others(1): Show HG01074.hp2 HG01081.hp2 HG01361.hp1 HG03491.hp1	a0014 a0028 a0014 a0028	a0014c0019 a0028c0055 a0014c0019 a0028c0055	a0014c0019t0019 a0014c0019t0026 a0028c0055t0026 a0014c0019t0019 a0014c0019t0026 a0028c0055t0026	a0014c0019t0019g0050 a0014c0019t0019g0052 a0014c0019t0026g0164 others(1): Show a0014c0019t0019g0050 a0014c0019t0019g0052 a0014c0019t0026g0164 a0028c0055t0026g0190	4	292	0.0137	-32	c.249 others(49): Show c.2499+369_2499+400delGTGCCCCGAGGTGCCCGGGGAGGGGACC CAGC	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	11/14			chr7	TogoVar
RADIL_chr7_4792055_4888716	4807967	TCTCCCTC others(25): Show TCTCCCTCCTCCCTCTCTCCCTGTCTCTCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0245 a0003c0005t0001g0245	1	292	0.0034	-32	c.214 others(51): Show c.2140-2283_2140-2252delGGGAGAGAGACAGGGAGAGAGGGAGG AGGGAG	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	9/14			chr7	TogoVar
RALBP1_chr18_9470513_9543114	9486209	TCTTCCTT others(25): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01243.hp1 others(27): Show HG01070.hp1 HG01071.hp2 HG01243.hp1 HG01928.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03471.hp2 HG03516.hp2 HG03688.hp2 HG04184.hp2 NA18522.hp1 NA18906.hp2 NA20129.hp1 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0007 a0005c0006 a0001c0001 a0001c0007 a0005c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0022 a0001c0001t0024 a0001c0007t0004 a0005c0006t0005	a0001c0001t0001g0122 a0001c0001t0001g0185 a0001c0001t0001g0186 others(26): Show a0001c0001t0001g0122 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0254 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0109 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0118 a0001c0001t0004g0121 a0001c0001t0004g0182 a0001c0001t0004g0184 a0001c0001t0004g0280 a0001c0001t0005g0017 a0001c0001t0005g0111 a0001c0001t0005g0112 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0005g0119 a0001c0001t0005g0183 a0001c0001t0013g0123 a0001c0001t0013g0125 a0001c0001t0015g0126 a0001c0001t0022g0124 a0001c0001t0024g0117 a0001c0007t0004g0039 a0005c0006t0005g0016	30	362	0.0829	-32	c.-56 others(51): Show c.-56+10541_-56+10572delTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT	RALBP1	ENSG00000017797.13	transcript	ENST00000383432.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
RANBP9_chr6_13616498_13716835	13632118	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG01109.hp2 others(4): Show HG00639.hp1 HG00738.hp2 HG01109.hp2 HG01978.hp2 HG03453.hp1 HG03516.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0135 a0001c0001t0001g0263 a0001c0001t0001g0280 others(4): Show a0001c0001t0001g0135 a0001c0001t0001g0263 a0001c0001t0001g0280 a0001c0001t0001g0294 a0001c0001t0001g0324 a0001c0002t0001g0088 a0001c0002t0001g0092	7	360	0.0194	-32	c.194 others(49): Show c.1947+220_1947+251delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	RANBP9	ENSG00000010017.13	transcript	ENST00000011619.6	protein_coding	12/13			chr6	TogoVar

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