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
BCLAF1_chr6_136251627_136294846	136258381	GAAAAACA others(11): Show GAAAAACAAAAACAAAAAC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG02280.hp1 NA18946.hp1 others(3): Show HG00544.hp1 HG02280.hp1 NA18946.hp1 NA18947.hp1 NA18967.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0033 a0001c0001t0008 a0001c0001t0033	a0001c0001t0008g0105 a0001c0001t0008g0108 a0001c0001t0008g0109 others(3): Show a0001c0001t0008g0105 a0001c0001t0008g0108 a0001c0001t0008g0109 a0001c0001t0008g0110 a0001c0001t0008g0111 a0001c0001t0033g0034	6	310	0.0194	-18	c.27 others(29): Show c.2711_*2728delGTTTTTGTTTTTGTTTTT	BCLAF1	ENSG00000029363.17	transcript	ENST00000531224.6	protein_coding	13/13	2711		chr6	TogoVar
BCO1_chr16_81233689_81296142	81235183	TATATATA others(11): Show TATATATATATATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG02135.hp1 HG01515.hp2 HG02135.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0233 a0003c0003t0001g0322 a0001c0001t0001g0233 a0003c0003t0001g0322	2	402	0.0050	-18	c.-37 others(29): Show c.-3725_-3708delATATATATATATATATAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3505		chr16	TogoVar
BCOR_chrX_40046251_40102958	40046532	AAATATAT others(11): Show AAATATATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02027.hp1 HG03516.hp1 others(7): Show HG00558.hp1 HG02027.hp1 HG03516.hp1 HG03669.hp2 HG03942.hp1 HG04184.hp1 NA18942.hp2 NA18946.hp1 NA18957.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0003t0001 a0002c0007t0006	a0001c0001t0001g0055 a0001c0001t0001g0082 a0001c0001t0001g0113 others(7): Show a0001c0001t0001g0055 a0001c0001t0001g0082 a0001c0001t0001g0113 a0001c0001t0001g0160 a0001c0001t0001g0226 a0001c0001t0002g0022 a0001c0001t0005g0013 a0001c0002t0001g0176 a0001c0003t0001g0231 a0002c0007t0006g0010	10	257	0.0389	-18	c.55 others(29): Show c.5559_*5576delCATATATATATATATATT	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4718		chrX	TogoVar
BCOR_chrX_40046251_40102958	40046558	ATATATAT others(11): Show ATATATATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02622.hp2 HG02809.hp2 HG01884.hp1 HG02622.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0025 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0025	3	257	0.0117	-18	c.55 others(29): Show c.5533_*5550delCATATATATATATATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4692		chrX	TogoVar
BDH1_chr3_197504783_197560968	197505410	GTGCCTAG others(11): Show GTGCCTAGACAGGGCACAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0187 a0001c0001t0187	a0001c0001t0187g0093 a0001c0001t0187g0093	1	319	0.0031	-18	c.64 others(29): Show c.6467_*6484delTTGTGCCCTGTCTAGGCA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding		4372		chr3	TogoVar
BDP1_chr5_71450651_71572820	71451104	TACACACA others(11): Show TACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02965.hp2 HG02895.hp2 HG02965.hp2	a0006 a0006	a0006c0007 a0006c0028 a0006c0007 a0006c0028	a0006c0007t0002 a0006c0028t0021 a0006c0007t0002 a0006c0028t0021	a0006c0007t0002g0006 a0006c0028t0021g0008 a0006c0007t0002g0006 a0006c0028t0021g0008	2	325	0.0062	-18	c.-47 others(29): Show c.-4773_-4756delACACACACACACACACAC	BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding		4546		chr5	TogoVar
BEAN1_chr16_66422295_66487833	66434206	CCCCCGAC others(11): Show CCCCCGACCCCGACCCCAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0019 a0001c0001t0009g0019	1	298	0.0034	-18	c.-82 others(35): Show c.-82-3372_-82-3355delAACCCCGACCCCGACCCC	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66445475	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18747.hp2 NA18960.hp2 others(1): Show HG02004.hp1 NA18747.hp2 NA18960.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0085 others(1): Show a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0002g0077	4	298	0.0134	-18	c.25+ others(33): Show c.25+7797_25+7814delAAAAAAAAAAAAAAAAAA	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BECN2_chr1_241952767_241964062	241957039	CTGTGTGT others(11): Show CTGTGTGTGTGTATGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG01071.hp2 others(7): Show HG00099.hp2 HG00733.hp2 HG01071.hp2 HG01175.hp1 HG01358.hp1 HG01515.hp2 HG01517.hp2 HG02273.hp1 HG03942.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0000 a0002c0002t0000 a0001c0001t0000 a0002c0002t0000	a0001c0001t0000g0000 a0002c0002t0000g0000 a0001c0001t0000g0000 a0002c0002t0000g0000	10	444	0.0225	-18	c.-72 others(27): Show c.-727_-710delTGTGTGTGTGTATGTGTG	BECN2	ENSG00000196289.7	transcript	ENST00000419583.2	protein_coding		727		chr1	TogoVar
BECN2_chr1_241952767_241964062	241957051	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp1 NA19240.hp2 HG02895.hp1 HG02897.hp1 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0000 a0003c0003t0000	a0003c0003t0000g0000 a0003c0003t0000g0000	3	444	0.0068	-18	c.-71 others(27): Show c.-715_-698delTGTGTGTGTGTGTGTGTG	BECN2	ENSG00000196289.7	transcript	ENST00000419583.2	protein_coding		715		chr1	TogoVar
BEGAIN_chr14_100532147_100592417	100546774	GCGCGCGC others(11): Show GCGCGCGCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02622.hp2 HG02647.hp2 others(2): Show HG02258.hp1 HG02622.hp2 HG02647.hp2 HG03139.hp2 NA18522.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0001 a0001c0005t0010 a0001c0005t0016 others(1): Show a0001c0005t0001 a0001c0005t0010 a0001c0005t0016 a0001c0006t0001	a0001c0005t0001g0047 a0001c0005t0001g0138 a0001c0005t0010g0289 others(2): Show a0001c0005t0001g0047 a0001c0005t0001g0138 a0001c0005t0010g0289 a0001c0005t0016g0301 a0001c0006t0001g0267	5	326	0.0153	-18	c.72- others(31): Show c.72-130_72-113delTGTGTGTGTGTGCGCGCG	BEGAIN	ENSG00000183092.18	transcript	ENST00000554140.3	protein_coding	2/6			chr14	TogoVar
BEND2_chrX_18157931_18225886	18185533	AAATAATA others(11): Show AAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02293.hp1 HG02976.hp2 HG01884.hp2 HG02293.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014	3	295	0.0102	-18	c.128 others(37): Show c.1289-4901_1289-4884delATTATTATTATTATTATT	BEND2	ENSG00000177324.14	transcript	ENST00000380033.9	protein_coding	8/13			chrX	TogoVar
BEND2_chrX_18157931_18225886	18224006	CATATATA others(11): Show CATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG03704.hp1 HG02293.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0014 a0001c0001t0002g0230 a0001c0001t0001g0014 a0001c0001t0002g0230	2	295	0.0068	-18	c.-32 others(29): Show c.-3274_-3257delATATATATATATATATAT	BEND2	ENSG00000177324.14	transcript	ENST00000380033.9	protein_coding		3121		chrX	TogoVar
BEND3_chr6_107060182_107120515	107073197	GTATGTAT others(11): Show GTATGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19060.hp2 NA19068.hp1 others(2): Show NA18946.hp1 NA19060.hp2 NA19068.hp1 NA19068.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0021 a0001c0001t0003g0033 a0001c0001t0003g0155 others(2): Show a0001c0001t0002g0021 a0001c0001t0003g0033 a0001c0001t0003g0155 a0001c0001t0003g0194 a0001c0001t0003g0322	5	368	0.0136	-18	c.241 others(35): Show c.241-2265_241-2248delTATATATATATATACATA	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar
BEND3_chr6_107060182_107120515	107073247	ATATATAT others(11): Show ATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0097 a0001c0001t0008g0097	1	368	0.0027	-18	c.241 others(35): Show c.241-2315_241-2298delCATATATATATATATATA	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar
BEND5_chr1_48722519_48781891	48779704	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	342	0.0029	-18	c.-28 others(29): Show c.-2891_-2874delAAAAAAAAAAAAAAAAAA	BEND5	ENSG00000162373.13	transcript	ENST00000371833.4	protein_coding		2814		chr1	TogoVar
BEST1_chr11_61945351_61969461	61958906	ATACACAC others(11): Show ATACACACACACACACACG	A A	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	410	0.0024	-18	c.868 others(33): Show c.868-591_868-574delTACACACACACACACACG	BEST1	ENSG00000167995.17	transcript	ENST00000378043.9	protein_coding	7/10			chr11	TogoVar
BEX1_chrX_103057651_103069171	103060002	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG03041.hp1 HG02071.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0005 a0001c0001t0001g0012	2	339	0.0059	-18	c.28 others(29): Show c.2877_*2894delTATAGAGAGAGAGAGAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2648		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060004	CTCTCTCT others(11): Show CTCTCTCTCTCTCTATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG02572.hp1 HG03540.hp2 others(1): Show HG00558.hp2 HG02572.hp1 HG03540.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0014	4	339	0.0118	-18	c.28 others(29): Show c.2875_*2892delTATATAGAGAGAGAGAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2646		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060006	CTCTCTCT others(11): Show CTCTCTCTCTCTATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 NA18941.hp2 NA19068.hp1 HG02735.hp1 NA18941.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0002g0004 a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0002g0004	3	339	0.0089	-18	c.28 others(29): Show c.2873_*2890delTATATATAGAGAGAGAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2644		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060008	CTCTCTCT others(11): Show CTCTCTCTCTATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG04199.hp1 NA18988.hp1 others(1): Show HG00544.hp1 HG04199.hp1 NA18988.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014	4	339	0.0118	-18	c.28 others(29): Show c.2871_*2888delTATATATATAGAGAGAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2642		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060010	CTCTCTCT others(11): Show CTCTCTCTATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02129.hp1 HG02523.hp1 others(6): Show HG00639.hp1 HG02129.hp1 HG02523.hp1 HG02602.hp1 HG04228.hp1 NA18949.hp1 NA18949.hp2 NA19077.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0014	9	339	0.0266	-18	c.28 others(29): Show c.2869_*2886delTATATATATATAGAGAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2640		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060012	CTCTCTAT others(11): Show CTCTCTATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG03834.hp1 NA18995.hp1 others(3): Show HG02056.hp1 HG03834.hp1 NA18995.hp1 NA19055.hp1 NA19056.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0012 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0002g0004	6	339	0.0177	-18	c.28 others(29): Show c.2867_*2884delTATATATATATATAGAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2638		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060014	CTCTATAT others(11): Show CTCTATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 NA18940.hp1 NA18979.hp1 others(1): Show HG00438.hp2 NA18940.hp1 NA18979.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0005 a0001c0001t0001g0015	4	339	0.0118	-18	c.28 others(29): Show c.2865_*2882delTATATATATATATATAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2636		chrX	TogoVar
BEX1_chrX_103057651_103069171	103060016	CTATATAT others(11): Show CTATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	339	0.0030	-18	c.28 others(29): Show c.2863_*2880delTATATATATATATATATA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2634		chrX	TogoVar
BEX2_chrX_103304346_103315990	103309250	GTGTATAT others(11): Show GTGTATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 NA19240.hp1 HG01109.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	308	0.0065	-18	c.32 others(27): Show c.322_*339delTATATATATATATATACA	BEX2	ENSG00000133134.12	transcript	ENST00000372677.8	protein_coding		95		chrX	TogoVar
BEX3_chrX_103371538_103383164	103375602	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01496.hp1 NA18982.hp1 others(3): Show HG01261.hp1 HG01496.hp1 NA18982.hp1 NA18992.hp1 NA19002.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0004	6	298	0.0201	-18	c.-11 others(29): Show c.-1102_-1085delTTTTTTTTTTTTTTTTTT	BEX3	ENSG00000166681.14	transcript	ENST00000361298.9	protein_coding		935		chrX	TogoVar
BEX5_chrX_102148712_102160977	102153606	CATATATA others(11): Show CATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG02135.hp1 HG03491.hp2 others(2): Show HG01975.hp2 HG02135.hp1 HG03491.hp2 HG03492.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0006 a0001c0001t0001g0001 a0001c0001t0003g0006	5	324	0.0154	-18	c.30 others(27): Show c.306_*323delATATATATATATATATAT	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		105		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158102	TTTCTTCT others(11): Show TTTCTTCTTCTTCTTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	324	0.0031	-18	c.-23 others(29): Show c.-2366_-2349delGAAGAAGAAGAAGAAGAA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2126		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158138	CTTCTTCT others(11): Show CTTCTTCTTCTTCTTCTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02257.hp1 HG03098.hp1 HG01109.hp1 HG02257.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0003g0009 a0001c0001t0001g0002 a0001c0001t0003g0009	3	324	0.0093	-18	c.-24 others(29): Show c.-2402_-2385delTAAGAAGAAGAAGAAGAA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2162		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158141	CTTCTTCT others(11): Show CTTCTTCTTCTTCTTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00609.hp1 HG00735.hp2 others(3): Show HG00323.hp1 HG00609.hp1 HG00735.hp2 HG02135.hp1 NA18944.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003	6	324	0.0185	-18	c.-24 others(29): Show c.-2405_-2388delTAATAAGAAGAAGAAGAA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2165		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158144	CTTCTTCT others(11): Show CTTCTTCTTCTTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01099.hp1 HG02148.hp2 others(4): Show HG00733.hp1 HG01099.hp1 HG02148.hp2 HG02155.hp1 HG02451.hp1 HG02622.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0025 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0025 a0001c0001t0002g0004	7	324	0.0216	-18	c.-24 others(29): Show c.-2408_-2391delTAATAATAAGAAGAAGAA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2168		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158147	CTTCTTCT others(11): Show CTTCTTCTTATTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01167.hp1 HG01168.hp2 others(7): Show HG00642.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01952.hp1 HG01978.hp2 NA18952.hp1 NA19082.hp1 NA19083.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0004 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0004 a0001c0001t0003g0015	10	324	0.0309	-18	c.-24 others(29): Show c.-2411_-2394delTAATAATAATAAGAAGAA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2171		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158150	CTTCTTAT others(11): Show CTTCTTATTATTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 NA18946.hp1 NA18998.hp1 others(2): Show HG00558.hp2 NA18946.hp1 NA18998.hp1 NA19063.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0004 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0004 a0001c0001t0005g0023	5	324	0.0154	-18	c.-24 others(29): Show c.-2414_-2397delTAATAATAATAATAAGAA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2174		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158153	CTTATTAT others(11): Show CTTATTATTATTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00558.hp1 others(41): Show HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00673.hp1 HG00735.hp1 HG01168.hp1 HG01169.hp1 HG01346.hp1 HG01346.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01993.hp1 HG02083.hp1 HG02293.hp2 HG02683.hp1 HG03834.hp1 HG03834.hp2 HG04228.hp1 NA18747.hp1 NA18941.hp2 NA18945.hp1 NA18949.hp1 NA18956.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp2 NA18973.hp1 NA18983.hp1 NA18985.hp1 NA18992.hp2 NA18998.hp2 NA19007.hp1 NA19009.hp1 NA19055.hp1 NA19062.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19076.hp1 NA19079.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0021 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0002g0004	44	324	0.1358	-18	c.-24 others(29): Show c.-2417_-2400delTAATAATAATAATAATAA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2177		chrX	TogoVar
BFSP1_chr20_17488905_17536379	17491595	AAAACAGA others(11): Show AAAACAGAACTAGATTGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00423.hp2 others(281): Show HG00099.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18949.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp2 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0003 a0001c0004 a0001c0005 others(16): Show a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0015 a0001c0026 a0002c0001 a0002c0011 a0002c0014 a0003c0007 a0004c0010 a0005c0009 a0006c0021 a0006c0023 a0007c0016 a0008c0020 a0009c0025 a0010c0024 a0011c0019	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(18): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0002 a0001c0005t0004 a0001c0006t0002 a0001c0015t0001 a0001c0026t0003 a0002c0001t0002 a0002c0011t0002 a0002c0014t0001 a0003c0007t0002 a0004c0010t0001 a0005c0009t0001 a0006c0021t0004 a0006c0023t0001 a0007c0016t0002 a0008c0020t0002 a0009c0025t0002 a0010c0024t0001 a0011c0019t0002	a0001c0003t0001g0005 a0001c0003t0001g0032 a0001c0003t0001g0040 others(265): Show a0001c0003t0001g0005 a0001c0003t0001g0032 a0001c0003t0001g0040 a0001c0003t0001g0042 a0001c0003t0001g0044 a0001c0003t0001g0063 a0001c0003t0001g0066 a0001c0003t0001g0068 a0001c0003t0001g0071 a0001c0003t0001g0076 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0087 a0001c0003t0001g0091 a0001c0003t0001g0095 a0001c0003t0001g0098 a0001c0003t0001g0102 a0001c0003t0001g0103 a0001c0003t0001g0113 a0001c0003t0001g0117 a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0127 a0001c0003t0001g0132 a0001c0003t0001g0141 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0152 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0177 a0001c0003t0001g0194 a0001c0003t0001g0214 a0001c0003t0001g0220 a0001c0003t0001g0249 a0001c0003t0001g0255 a0001c0003t0001g0265 a0001c0003t0001g0268 a0001c0003t0001g0270 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0280 a0001c0003t0001g0282 a0001c0003t0001g0283 a0001c0003t0001g0286 a0001c0003t0001g0289 a0001c0003t0001g0300 a0001c0003t0001g0301 a0001c0003t0001g0309 a0001c0003t0001g0312 a0001c0003t0001g0317 a0001c0003t0001g0348 a0001c0003t0001g0358 a0001c0003t0001g0367 a0001c0003t0001g0369 a0001c0003t0002g0038 a0001c0003t0002g0073 a0001c0003t0002g0137 a0001c0003t0003g0015 a0001c0003t0003g0045 a0001c0003t0003g0057 a0001c0003t0003g0085 a0001c0003t0003g0100 a0001c0003t0003g0175 a0001c0003t0003g0176 a0001c0003t0003g0190 a0001c0003t0003g0192 a0001c0003t0003g0198 a0001c0003t0003g0210 a0001c0003t0003g0233 a0001c0003t0003g0238 a0001c0003t0003g0259 a0001c0003t0003g0267 a0001c0003t0003g0324 a0001c0003t0003g0331 a0001c0003t0003g0332 a0001c0003t0003g0341 a0001c0004t0002g0030 a0001c0004t0002g0031 a0001c0004t0002g0034 a0001c0004t0002g0035 a0001c0004t0002g0084 a0001c0004t0002g0093 a0001c0004t0002g0094 a0001c0004t0002g0115 a0001c0004t0002g0129 a0001c0004t0002g0130 a0001c0004t0002g0131 a0001c0004t0002g0147 a0001c0004t0002g0148 a0001c0004t0002g0156 a0001c0004t0002g0167 a0001c0004t0002g0178 a0001c0004t0002g0180 a0001c0004t0002g0189 a0001c0004t0002g0197 a0001c0004t0002g0201 a0001c0004t0002g0202 a0001c0004t0002g0203 a0001c0004t0002g0208 a0001c0004t0002g0217 a0001c0004t0002g0218 a0001c0004t0002g0224 a0001c0004t0002g0228 a0001c0004t0002g0232 a0001c0004t0002g0234 a0001c0004t0002g0235 a0001c0004t0002g0236 a0001c0004t0002g0243 a0001c0004t0002g0254 a0001c0004t0002g0256 a0001c0004t0002g0307 a0001c0004t0002g0318 a0001c0004t0002g0325 a0001c0004t0002g0335 a0001c0005t0004g0002 a0001c0005t0004g0116 a0001c0005t0004g0136 a0001c0005t0004g0142 a0001c0005t0004g0279 a0001c0005t0004g0281 a0001c0005t0004g0291 a0001c0005t0004g0292 a0001c0005t0004g0293 a0001c0005t0004g0294 a0001c0005t0004g0295 a0001c0005t0004g0296 a0001c0005t0004g0297 a0001c0005t0004g0298 a0001c0005t0004g0299 a0001c0005t0004g0310 a0001c0006t0002g0009 a0001c0006t0002g0010 a0001c0006t0002g0028 a0001c0006t0002g0135 a0001c0006t0002g0140 a0001c0006t0002g0239 a0001c0015t0001g0285 a0001c0015t0001g0287 a0001c0026t0003g0377 a0002c0001t0002g0001 a0002c0001t0002g0003 a0002c0001t0002g0006 a0002c0001t0002g0008 a0002c0001t0002g0012 a0002c0001t0002g0014 a0002c0001t0002g0033 a0002c0001t0002g0043 a0002c0001t0002g0054 a0002c0001t0002g0055 a0002c0001t0002g0056 a0002c0001t0002g0062 a0002c0001t0002g0069 a0002c0001t0002g0074 a0002c0001t0002g0075 a0002c0001t0002g0078 a0002c0001t0002g0079 a0002c0001t0002g0090 a0002c0001t0002g0092 a0002c0001t0002g0101 a0002c0001t0002g0108 a0002c0001t0002g0109 a0002c0001t0002g0121 a0002c0001t0002g0122 a0002c0001t0002g0123 a0002c0001t0002g0125 a0002c0001t0002g0126 a0002c0001t0002g0128 a0002c0001t0002g0133 a0002c0001t0002g0134 a0002c0001t0002g0139 a0002c0001t0002g0151 a0002c0001t0002g0154 a0002c0001t0002g0155 a0002c0001t0002g0157 a0002c0001t0002g0161 a0002c0001t0002g0182 a0002c0001t0002g0185 a0002c0001t0002g0193 a0002c0001t0002g0196 a0002c0001t0002g0199 a0002c0001t0002g0204 a0002c0001t0002g0207 a0002c0001t0002g0211 a0002c0001t0002g0212 a0002c0001t0002g0222 a0002c0001t0002g0226 a0002c0001t0002g0227 a0002c0001t0002g0229 a0002c0001t0002g0230 a0002c0001t0002g0237 a0002c0001t0002g0241 a0002c0001t0002g0242 a0002c0001t0002g0244 a0002c0001t0002g0248 a0002c0001t0002g0251 a0002c0001t0002g0258 a0002c0001t0002g0262 a0002c0001t0002g0263 a0002c0001t0002g0264 a0002c0001t0002g0266 a0002c0001t0002g0269 a0002c0001t0002g0271 a0002c0001t0002g0272 a0002c0001t0002g0288 a0002c0001t0002g0290 a0002c0001t0002g0303 a0002c0001t0002g0304 a0002c0001t0002g0316 a0002c0001t0002g0319 a0002c0001t0002g0321 a0002c0001t0002g0322 a0002c0001t0002g0326 a0002c0001t0002g0327 a0002c0001t0002g0328 a0002c0001t0002g0329 a0002c0001t0002g0337 a0002c0001t0002g0338 a0002c0001t0002g0342 a0002c0001t0002g0344 a0002c0001t0002g0347 a0002c0001t0002g0349 a0002c0001t0002g0354 a0002c0001t0002g0356 a0002c0001t0002g0357 a0002c0001t0002g0359 a0002c0001t0002g0361 a0002c0001t0002g0362 a0002c0001t0002g0363 a0002c0001t0002g0364 a0002c0001t0002g0365 a0002c0001t0002g0368 a0002c0001t0002g0370 a0002c0001t0002g0371 a0002c0001t0002g0372 a0002c0001t0002g0373 a0002c0011t0002g0049 a0002c0011t0002g0051 a0002c0011t0002g0052 a0002c0014t0001g0231 a0002c0014t0001g0273 a0003c0007t0002g0013 a0003c0007t0002g0072 a0003c0007t0002g0112 a0003c0007t0002g0308 a0003c0007t0002g0311 a0003c0007t0002g0314 a0004c0010t0001g0036 a0004c0010t0001g0037 a0004c0010t0001g0099 a0004c0010t0001g0305 a0005c0009t0001g0016 a0005c0009t0001g0017 a0005c0009t0001g0019 a0005c0009t0001g0020 a0006c0021t0004g0022 a0006c0023t0001g0023 a0007c0016t0002g0162 a0007c0016t0002g0163 a0008c0020t0002g0024 a0009c0025t0002g0200 a0010c0024t0001g0026 a0011c0019t0002g0018	284	396	0.7172	-18	c.24 others(29): Show c.2461_*2478delCCCAATCTAGTTCTGTTT	BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding		2309		chr20	TogoVar
BFSP2_chr3_133395056_133480208	133408190	CTCTTTTA others(11): Show CTCTTTTATTTTTAAATGT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	276	0.0036	-18	c.489 others(35): Show c.489+7620_489+7637delCTTTTATTTTTAAATGTT	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425807	GGAAGGGA others(11): Show GGAAGGGAAGGGAAATAAA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01516.hp2 HG00735.hp1 HG01516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0202 a0001c0002t0001g0222 a0001c0002t0001g0202 a0001c0002t0001g0222	2	276	0.0073	-18	c.490 others(37): Show c.490-21483_490-21466delGGGAAATAAAGAAGGGAA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133446570	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG01167.hp1 others(12): Show HG00639.hp1 HG00738.hp1 HG01167.hp1 HG01192.hp1 HG01346.hp1 HG01934.hp1 HG01993.hp2 HG02630.hp1 HG02723.hp2 HG03654.hp1 NA18945.hp2 NA18962.hp2 NA19240.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 a0001c0001t0001 a0001c0002t0001 a0001c0008t0001	a0001c0001t0001g0021 a0001c0001t0001g0065 a0001c0001t0001g0069 others(12): Show a0001c0001t0001g0021 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0135 a0001c0001t0001g0234 a0001c0002t0001g0063 a0001c0002t0001g0082 a0001c0002t0001g0090 a0001c0002t0001g0151 a0001c0002t0001g0171 a0001c0002t0001g0233 a0001c0002t0001g0253 a0001c0008t0001g0125	15	276	0.0544	-18	c.490 others(33): Show c.490-694_490-677delTATATATATATATATATA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BGN_chrX_153489980_153514546	153509051	CTCTCTCT others(11): Show CTCTCTCTTTCTGTGTGTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01934.hp1 HG02280.hp2 HG02818.hp2 others(1): Show HG01934.hp1 HG02280.hp2 HG02818.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0045 a0001c0001t0015g0191 a0001c0001t0015g0193 a0001c0001t0015g0045 a0001c0001t0015g0191 a0001c0001t0015g0193	4	321	0.0125	-18	c.60 others(27): Show c.608_*625delCTCTCTTTCTGTGTGTGT	BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding	8/8	608	INFO_REALIGN_3_PRIME	chrX	TogoVar
BGN_chrX_153489980_153514546	153513428	ATGTGTGT others(11): Show ATGTGTGTGTATATGTTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02040.hp1 HG02109.hp1 others(31): Show HG01884.hp2 HG02040.hp1 HG02109.hp1 HG02129.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02809.hp2 HG03041.hp1 HG03453.hp1 HG03486.hp1 NA18945.hp1 NA18951.hp2 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18983.hp1 NA18984.hp1 NA19001.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19062.hp1 NA19065.hp1 NA19082.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0007	a0001c0001t0001 a0001c0001t0017 a0001c0001t0026 others(18): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0026 a0001c0002t0011 a0001c0002t0028 a0001c0003t0020 a0001c0003t0023 a0001c0003t0044 a0001c0003t0048 a0001c0003t0050 a0001c0003t0078 a0001c0003t0081 a0001c0004t0008 a0001c0004t0014 a0001c0004t0027 a0001c0004t0028 a0001c0004t0080 a0001c0004t0082 a0001c0004t0089 a0001c0005t0006 a0002c0007t0008	a0001c0001t0001g0044 a0001c0001t0017g0022 a0001c0001t0026g0022 others(27): Show a0001c0001t0001g0044 a0001c0001t0017g0022 a0001c0001t0026g0022 a0001c0002t0011g0121 a0001c0002t0028g0119 a0001c0003t0020g0061 a0001c0003t0023g0050 a0001c0003t0023g0195 a0001c0003t0044g0156 a0001c0003t0048g0067 a0001c0003t0050g0190 a0001c0003t0078g0082 a0001c0003t0081g0081 a0001c0004t0008g0019 a0001c0004t0008g0036 a0001c0004t0008g0071 a0001c0004t0008g0125 a0001c0004t0014g0015 a0001c0004t0014g0027 a0001c0004t0014g0078 a0001c0004t0014g0094 a0001c0004t0014g0098 a0001c0004t0027g0154 a0001c0004t0027g0155 a0001c0004t0028g0036 a0001c0004t0080g0015 a0001c0004t0082g0027 a0001c0004t0089g0048 a0001c0005t0006g0046 a0002c0007t0008g0019	34	321	0.1059	-18	c.49 others(29): Show c.4984_*5001delTGTGTGTGTATATGTTTC	BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding		3883		chrX	TogoVar
BICD1_chr12_32101847_32388633	32195342	CACTTCCT others(11): Show CACTTCCTGGTTTCAAACT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01192.hp2 others(15): Show HG01167.hp2 HG01169.hp2 HG01192.hp2 HG02145.hp1 HG02559.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp2 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016	a0001c0001t0004g0166 a0001c0001t0004g0287 a0001c0001t0006g0034 others(15): Show a0001c0001t0004g0166 a0001c0001t0004g0287 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0160 a0001c0001t0006g0162 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0009g0086 a0001c0001t0009g0159 a0001c0001t0010g0158 a0001c0001t0016g0154	18	290	0.0621	-18	c.214 others(37): Show c.214-20884_214-20867delTTCCTGGTTTCAAACTAC	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32346598	ATATATAT others(11): Show ATATATATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01358.hp2 HG01981.hp1 others(1): Show HG00323.hp1 HG01358.hp2 HG01981.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0043 a0001c0002t0002 a0001c0001t0002 a0001c0001t0043 a0001c0002t0002	a0001c0001t0002g0199 a0001c0001t0043g0236 a0001c0002t0002g0063 others(1): Show a0001c0001t0002g0199 a0001c0001t0043g0236 a0001c0002t0002g0063 a0001c0002t0002g0192	4	290	0.0138	-18	c.276 others(37): Show c.2764+7634_2764+7651delCGTGTATATATATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32348723	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	290	0.0035	-18	c.276 others(37): Show c.2764+9783_2764+9800delATATATATATATATATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICRAL_chr6_42777052_42873556	42779223	AACACACA others(11): Show AACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG02280.hp2 HG02809.hp1 others(1): Show HG01255.hp1 HG02280.hp2 HG02809.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0023 a0001c0001t0002 a0001c0001t0011 a0001c0001t0023	a0001c0001t0002g0249 a0001c0001t0011g0117 a0001c0001t0011g0222 others(1): Show a0001c0001t0002g0249 a0001c0001t0011g0117 a0001c0001t0011g0222 a0001c0001t0023g0118	4	270	0.0148	-18	c.-29 others(29): Show c.-2979_-2962delACACACACACACACACAC	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding		2828		chr6	TogoVar
BICRAL_chr6_42777052_42873556	42844508	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03453.hp2 NA19005.hp2 HG02055.hp2 HG03453.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0248 a0001c0002t0003g0027 a0001c0002t0003g0033 a0001c0001t0001g0248 a0001c0002t0003g0027 a0001c0002t0003g0033	3	270	0.0111	-18	c.184 others(37): Show c.1840-7564_1840-7547delAAAAAAAAAAAAAAAAAA	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42845195	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp2 HG01496.hp1 others(11): Show HG00597.hp1 HG00673.hp2 HG01496.hp1 HG01515.hp2 HG02523.hp1 HG02723.hp2 HG02818.hp2 HG03669.hp2 NA18612.hp1 NA18980.hp2 NA18982.hp2 NA19004.hp2 NA19066.hp1 NA19080.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0028 a0001c0002t0003 a0003c0004t0001	a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0048 others(11): Show a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0227 a0001c0001t0002g0052 a0001c0001t0002g0225 a0001c0001t0003g0223 a0001c0001t0028g0010 a0001c0002t0003g0059 a0003c0004t0001g0016	14	270	0.0519	-18	c.184 others(37): Show c.1840-6861_1840-6844delTTTTTTTTTTTTTTTTTT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRA_chr19_47604134_47708277	47659685	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03098.hp1 HG02976.hp2 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0004 a0001c0003t0003 a0001c0003t0004	a0001c0003t0003g0017 a0001c0003t0004g0016 a0001c0003t0003g0017 a0001c0003t0004g0016	2	312	0.0064	-18	c.-10 others(39): Show c.-107-10727_-107-10710delACACACACACACACACAC	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BICRA_chr19_47604134_47708277	47685741	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0006 a0001c0013t0006	a0001c0013t0006g0192 a0001c0013t0006g0192	1	312	0.0032	-18	c.228 others(37): Show c.2283+3618_2283+3635delTGTGTGTGTGTGTGTGTG	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BID_chr22_17729138_17779469	17751521	GCCATTTT others(11): Show GCCATTTTGTAGGACAAAA	G G	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	362	0.0028	-18	c.-58 others(35): Show c.-58-1365_-58-1348delTTTTGTCCTACAAAATGG	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar

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