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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
BMS1_chr10_42777795_42839937	42792494	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18962.hp1 NA19075.hp1 NA18962.hp1 NA19075.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0004 a0013c0018t0004	a0013c0018t0004g0018 a0013c0018t0004g0144 a0013c0018t0004g0018 a0013c0018t0004g0144	2	388	0.0052	0	c.781 others(3): Show c.781A>G	p.Met others(6): Show p.Met261Val	BMS1	ENSG00000165733.8	transcript	ENST00000374518.6	protein_coding	7/23	850/7759	781/3849	261/1282		chr10	TogoVar
BMS1_chr10_42777795_42839937	42793991	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02602.hp2 HG02602.hp2	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0005 a0017c0021t0005	a0017c0021t0005g0185 a0017c0021t0005g0185	1	388	0.0026	0	c.122 others(4): Show c.1229G>A	p.Gly others(6): Show p.Gly410Glu	BMS1	ENSG00000165733.8	transcript	ENST00000374518.6	protein_coding	9/23	1298/7759	1229/3849	410/1282		chr10	TogoVar
BMS1_chr10_42777795_42839937	42823606	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00673.hp2 NA18984.hp1 NA18998.hp1 HG00673.hp2 NA18984.hp1 NA18998.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0204 a0005c0007t0001g0205 a0005c0007t0001g0206 a0005c0007t0001g0204 a0005c0007t0001g0205 a0005c0007t0001g0206	3	388	0.0077	0	c.328 others(6): Show c.3281-3C>T		BMS1	ENSG00000165733.8	transcript	ENST00000374518.6	protein_coding	20/22					chr10	TogoVar
BMX_chrX_15495807_15561519	15542204	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	216	0.0046	0	c.161 others(6): Show c.1611+6C>A		BMX	ENSG00000102010.15	transcript	ENST00000348343.11	protein_coding	15/18					chrX	TogoVar
BMX_chrX_15495807_15561519	15556061	GT GT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	216	0.0046	-1	c.195 others(7): Show c.1954-7delT		BMX	ENSG00000102010.15	transcript	ENST00000348343.11	protein_coding	18/18				INFO_REALIGN_3_PRIME	chrX	TogoVar
BNC1_chr15_83250884_83289664	83264820	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG01884.hp2 HG02040.hp2 others(36): Show HG00408.hp2 HG01884.hp2 HG02040.hp2 HG02083.hp2 HG02572.hp2 HG02622.hp1 HG02698.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02965.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03927.hp2 NA18940.hp1 NA18943.hp2 NA18945.hp2 NA18952.hp2 NA18956.hp1 NA18957.hp2 NA18963.hp2 NA18965.hp1 NA18967.hp1 NA18982.hp2 NA18985.hp2 NA18988.hp2 NA18994.hp2 NA19000.hp2 NA19003.hp2 NA19009.hp2 NA19060.hp1 NA19081.hp2 NA19082.hp2 NA19091.hp2 NA19240.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0007 a0001c0001 a0011c0007	a0001c0001t0003 a0011c0007t0003 a0001c0001t0003 a0011c0007t0003	a0001c0001t0003g0006 a0001c0001t0003g0012 a0001c0001t0003g0015 others(21): Show a0001c0001t0003g0006 a0001c0001t0003g0012 a0001c0001t0003g0015 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0069 a0001c0001t0003g0074 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0132 a0001c0001t0003g0143 a0011c0007t0003g0144	39	304	0.1283	0	c.436 others(5): Show c.436-5T>C		BNC1	ENSG00000169594.14	transcript	ENST00000345382.7	protein_coding	3/4					chr15	TogoVar
BNC2_chr9_16404503_16875670	16738489	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0013 a0001c0002t0027g0013	1	176	0.0057	0	c.4-4 others(3): Show c.4-4A>G		BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6					chr9	TogoVar
BNIP1_chr5_173139531_173169387	173154412	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02683.hp1 HG02683.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0011 a0003c0004t0001g0011	1	352	0.0028	0	c.268 others(3): Show c.268A>G	p.Ser others(5): Show p.Ser90Gly	BNIP1	ENSG00000113734.18	transcript	ENST00000351486.10	protein_coding	3/6	283/1168	268/687	90/228		chr5	TogoVar
BNIP2_chr15_59654146_59694320	59680241	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0036 a0002c0004t0036	a0002c0004t0036g0086 a0002c0004t0036g0086	1	412	0.0024	0	c.118 others(3): Show c.118G>C	p.Gly others(5): Show p.Gly40Arg	BNIP2	ENSG00000140299.14	transcript	ENST00000607373.6	protein_coding	3/10	361/6111	118/945	40/314		chr15	TogoVar
BNIP2_chr15_59654146_59694320	59682401	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	412	0.0024	0	c.50+ others(4): Show c.50+7A>G		BNIP2	ENSG00000140299.14	transcript	ENST00000607373.6	protein_coding	2/9					chr15	TogoVar
BNIP2_chr15_59654146_59694320	59682519	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0194 a0001c0001t0025g0194	1	412	0.0024	0	c.-57 others(5): Show c.-57-5C>G		BNIP2	ENSG00000140299.14	transcript	ENST00000607373.6	protein_coding	1/9					chr15	TogoVar
BNIP3_chr10_131962684_131986923	131970977	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG06807.hp1 HG01891.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0089 a0001c0001t0001g0095	2	438	0.0046	0	c.283 others(5): Show c.283-7A>C		BNIP3	ENSG00000176171.12	transcript	ENST00000368636.9	protein_coding	3/5					chr10	TogoVar
BNIP5_chr6_36310761_36341888	36319356	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0283 a0001c0017t0001g0283	1	424	0.0024	0	c.192 others(4): Show c.1923G>A	p.Pro others(6): Show p.Pro641Pro	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	11/12	2104/3735	1923/1959	641/652		chr6	TogoVar
BNIP5_chr6_36310761_36341888	36326761	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	424	0.0024	0	c.793 others(5): Show c.793-8C>T		BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	4/11					chr6	TogoVar
BNIP5_chr6_36310761_36341888	36328590	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	424	0.0024	0	c.727 others(5): Show c.727+8G>A		BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	3/11					chr6	TogoVar
BNIP5_chr6_36310761_36341888	36330074	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0195 a0001c0001t0003g0195	1	424	0.0024	0	c.610 others(5): Show c.610+7G>A		BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	2/11					chr6	TogoVar
BNIP5_chr6_36310761_36341888	36330075	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01261.hp1 HG01261.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0084 a0003c0003t0002g0084	1	424	0.0024	0	c.610 others(5): Show c.610+6C>T		BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	2/11					chr6	TogoVar
BNIPL_chr1_151031586_151052720	151038494	T T	TC TC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02451.hp1 HG02717.hp1 others(8): Show HG02109.hp1 HG02451.hp1 HG02717.hp1 HG02976.hp1 HG03098.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp1 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011	a0001c0001t0002g0039 a0001c0001t0002g0109 a0001c0001t0002g0112 others(6): Show a0001c0001t0002g0039 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0004g0022 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0114 a0001c0001t0011g0115	11	362	0.0304	1	c.138 others(6): Show c.138-6dupC		BNIPL	ENSG00000163141.20	transcript	ENST00000368931.8	protein_coding	2/9				INFO_REALIGN_3_PRIME	chr1	TogoVar
BNIPL_chr1_151031586_151052720	151046644	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	362	0.0028	0	c.103 others(6): Show c.1038-7C>G		BNIPL	ENSG00000163141.20	transcript	ENST00000368931.8	protein_coding	9/9					chr1	TogoVar
BOC_chr3_113206557_113292459	113270942	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01496.hp2 HG01496.hp2	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0001 a0008c0023t0001	a0008c0023t0001g0307 a0008c0023t0001g0307	1	386	0.0026	0	c.665 others(3): Show c.665G>A	p.Arg others(6): Show p.Arg222His	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	6/20	1294/4574	665/3348	222/1115		chr3	TogoVar
BOC_chr3_113206557_113292459	113278782	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0002 a0001c0016t0003g0002	2	386	0.0052	0	c.181 others(4): Show c.1815C>T	p.Ser others(6): Show p.Ser605Ser	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	11/20	2444/4574	1815/3348	605/1115		chr3	TogoVar
BOC_chr3_113206557_113292459	113278790	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0190 a0001c0013t0001g0190	1	386	0.0026	0	c.181 others(6): Show c.1816+7C>T		BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	11/19					chr3	TogoVar
BOC_chr3_113206557_113292459	113279243	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00438.hp1 HG00597.hp2 others(114): Show HG00280.hp2 HG00438.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG02818.hp1 HG03041.hp2 HG03139.hp2 HG03471.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp2 NA18953.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19060.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19082.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA20905.hp2	a0001 a0006 a0013 a0001 a0006 a0013	a0001c0002 a0001c0010 a0001c0022 others(3): Show a0001c0002 a0001c0010 a0001c0022 a0001c0032 a0006c0020 a0013c0033	a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 others(20): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0016 a0001c0002t0017 a0001c0002t0022 a0001c0002t0024 a0001c0002t0026 a0001c0002t0034 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047 a0001c0002t0053 a0001c0002t0054 a0001c0002t0056 a0001c0010t0002 a0001c0010t0008 a0001c0010t0033 a0001c0022t0002 a0001c0022t0033 a0001c0032t0002 a0006c0020t0002 a0013c0033t0002	a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 others(112): Show a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0015 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0053 a0001c0002t0002g0062 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0067 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0084 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0119 a0001c0002t0002g0139 a0001c0002t0002g0141 a0001c0002t0002g0162 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0170 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0196 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0275 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0291 a0001c0002t0002g0293 a0001c0002t0002g0295 a0001c0002t0002g0301 a0001c0002t0002g0310 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0321 a0001c0002t0002g0330 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0002g0335 a0001c0002t0002g0345 a0001c0002t0002g0347 a0001c0002t0002g0351 a0001c0002t0002g0352 a0001c0002t0002g0354 a0001c0002t0002g0355 a0001c0002t0002g0369 a0001c0002t0002g0370 a0001c0002t0003g0298 a0001c0002t0003g0341 a0001c0002t0003g0344 a0001c0002t0008g0134 a0001c0002t0008g0207 a0001c0002t0008g0210 a0001c0002t0008g0213 a0001c0002t0008g0214 a0001c0002t0008g0221 a0001c0002t0008g0227 a0001c0002t0008g0365 a0001c0002t0008g0366 a0001c0002t0008g0368 a0001c0002t0016g0338 a0001c0002t0016g0342 a0001c0002t0017g0044 a0001c0002t0017g0105 a0001c0002t0017g0243 a0001c0002t0017g0252 a0001c0002t0022g0255 a0001c0002t0022g0261 a0001c0002t0022g0265 a0001c0002t0022g0269 a0001c0002t0024g0140 a0001c0002t0024g0142 a0001c0002t0024g0169 a0001c0002t0026g0274 a0001c0002t0026g0360 a0001c0002t0026g0361 a0001c0002t0034g0171 a0001c0002t0034g0288 a0001c0002t0045g0110 a0001c0002t0046g0129 a0001c0002t0047g0363 a0001c0002t0053g0263 a0001c0002t0054g0251 a0001c0002t0056g0136 a0001c0010t0002g0003 a0001c0010t0002g0004 a0001c0010t0002g0025 a0001c0010t0002g0294 a0001c0010t0008g0209 a0001c0010t0008g0211 a0001c0010t0033g0003 a0001c0022t0002g0296 a0001c0022t0033g0297 a0001c0032t0002g0085 a0006c0020t0002g0286 a0006c0020t0002g0287 a0013c0033t0002g0309	117	386	0.3031	0	c.181 others(6): Show c.1817-6T>C		BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	11/19					chr3	TogoVar
BOD1L1_chr4_13563738_13632725	13605091	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	258	0.0039	0	c.181 others(6): Show c.1816-7C>T		BOD1L1	ENSG00000038219.13	transcript	ENST00000040738.10	protein_coding	9/25					chr4	TogoVar
BOD1L1_chr4_13563738_13632725	13613669	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(173): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18975.hp2 NA18983.hp1 NA18983.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19077.hp1 NA19077.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0003 others(22): Show a0000 a0001 a0003 a0004 a0005 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027	a0000c0021 a0001c0001 a0001c0014 others(27): Show a0000c0021 a0001c0001 a0001c0014 a0001c0017 a0001c0029 a0003c0003 a0003c0036 a0004c0004 a0004c0016 a0005c0005 a0008c0009 a0009c0013 a0010c0012 a0011c0010 a0012c0011 a0013c0038 a0014c0037 a0015c0035 a0016c0034 a0017c0033 a0018c0018 a0019c0028 a0020c0026 a0021c0024 a0022c0022 a0023c0023 a0024c0020 a0025c0025 a0026c0027 a0027c0019	a0000c0021t0001 a0001c0001t0001 a0001c0001t0002 others(36): Show a0000c0021t0001 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0014t0001 a0001c0017t0001 a0001c0029t0001 a0003c0003t0001 a0003c0036t0001 a0004c0004t0001 a0004c0004t0003 a0004c0004t0004 a0004c0004t0007 a0004c0016t0001 a0005c0005t0002 a0008c0009t0001 a0008c0009t0002 a0009c0013t0001 a0010c0012t0005 a0011c0010t0001 a0012c0011t0001 a0012c0011t0003 a0013c0038t0001 a0014c0037t0005 a0015c0035t0001 a0016c0034t0003 a0017c0033t0001 a0018c0018t0001 a0019c0028t0001 a0020c0026t0001 a0021c0024t0003 a0022c0022t0001 a0023c0023t0001 a0024c0020t0001 a0025c0025t0004 a0026c0027t0001 a0027c0019t0001	a0000c0021t0001g0183 a0001c0001t0001g0008 a0001c0001t0001g0009 others(150): Show a0000c0021t0001g0183 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0002g0097 a0001c0001t0006g0056 a0001c0001t0006g0186 a0001c0001t0008g0084 a0001c0001t0009g0064 a0001c0014t0001g0047 a0001c0017t0001g0025 a0001c0029t0001g0209 a0003c0003t0001g0001 a0003c0003t0001g0017 a0003c0003t0001g0031 a0003c0003t0001g0165 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0174 a0003c0003t0001g0217 a0003c0036t0001g0164 a0004c0004t0001g0033 a0004c0004t0001g0035 a0004c0004t0001g0036 a0004c0004t0001g0037 a0004c0004t0001g0042 a0004c0004t0001g0043 a0004c0004t0001g0089 a0004c0004t0001g0090 a0004c0004t0001g0091 a0004c0004t0001g0092 a0004c0004t0001g0093 a0004c0004t0001g0094 a0004c0004t0003g0207 a0004c0004t0004g0007 a0004c0004t0007g0034 a0004c0004t0007g0038 a0004c0016t0001g0063 a0005c0005t0002g0002 a0005c0005t0002g0176 a0005c0005t0002g0177 a0005c0005t0002g0178 a0008c0009t0001g0219 a0008c0009t0002g0220 a0008c0009t0002g0221 a0009c0013t0001g0016 a0010c0012t0005g0020 a0010c0012t0005g0021 a0011c0010t0001g0068 a0011c0010t0001g0069 a0012c0011t0001g0111 a0012c0011t0003g0110 a0013c0038t0001g0222 a0014c0037t0005g0032 a0015c0035t0001g0172 a0016c0034t0003g0166 a0017c0033t0001g0173 a0018c0018t0001g0066 a0019c0028t0001g0099 a0020c0026t0001g0095 a0021c0024t0003g0024 a0022c0022t0001g0098 a0023c0023t0001g0109 a0024c0020t0001g0202 a0025c0025t0004g0023 a0026c0027t0001g0096 a0027c0019t0001g0201	176	258	0.6822	0	c.117 others(6): Show c.1175-8G>T		BOD1L1	ENSG00000038219.13	transcript	ENST00000040738.10	protein_coding	4/25					chr4	TogoVar
BOD1_chr5_173602145_173621650	173607146	T T	C C	splice_region_variant splice_region_variant	LOW	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(202): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18976.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(27): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0004g0007 a0001c0001t0004g0035 a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0001t0008g0029 a0001c0001t0010g0037 a0001c0001t0012g0038 a0001c0001t0016g0028 a0001c0001t0018g0039 a0001c0002t0001g0025 a0001c0002t0001g0063 a0002c0003t0001g0036	205	416	0.4928	0	c.11 others(5): Show c.1148A>G		BOD1	ENSG00000145919.11	transcript	ENST00000311086.9	protein_coding	4/4					chr5	TogoVar
BOLL_chr2_197721890_197790319	197775739	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0230 a0004c0004t0001g0230	1	328	0.0031	0	c.278 others(3): Show c.278C>T	p.Ala others(5): Show p.Ala93Val	BOLL	ENSG00000152430.19	transcript	ENST00000392296.9	protein_coding	5/11	557/2796	278/852	93/283		chr2	TogoVar
BOP1_chr8_144257045_144296438	144262844	A A	ACCCCTCA others(221): Show ACCCCTCACCTGCAGGGTGCACCGCCCCCCCCCACCCCTCACCTGCAGGG TACACCGCCCCCCCCCACCCCTCACCTGCAGGGTGCACCGCCCCCCCCAC CCCTCACCTGCAGGGTGCACTGCCCCTACCCCCACCCCTCACCTGCAGGG TACACCGCCCCCCCCCACCCCTCACCTGCAGGGTACACCGCCCCCCCCCC ACCCCTCACCTGCAGGGTGCACTGCCCCC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0375 a0001c0008t0001g0375	1	398	0.0025	228	c.189 others(241): Show c.1894+8_1894+9insGGGGGCAGTGCACCCTGCAGGTGAGGGGTGGG GGGGGGGCGGTGTACCCTGCAGGTGAGGGGTGGGGGGGGGCGGTGTACCC TGCAGGTGAGGGGTGGGGGTAGGGGCAGTGCACCCTGCAGGTGAGGGGTG GGGGGGGCGGTGCACCCTGCAGGTGAGGGGTGGGGGGGGGCGGTGTACCC TGCAGGTGAGGGGTGGGGGGGGGCGGTGCACCCTGCAGGTGAGGGG		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15					chr8	TogoVar
BOP1_chr8_144257045_144296438	144262844	A A	ACCCCTCA others(222): Show ACCCCTCACCTGCAGGGTGCACCGCCCCCCCCCACCCCTCACCTGCAGGG TACACCGCCCCCCCCCCACCCCTCACCTGCAGGGTGCACCGCCCCCCCCA CCCCTCACCTGCAGGGTGCACTGCCCCTACCCCCACCCCTCACCTGCAGG GTACACCGCCCCCCCCCACCCCTCACCTGCAGGGTACACCGCCCCCCCCC CACCCCTCACCTGCAGGGTGCACTGCCCCC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0152 a0001c0003t0001g0152	1	398	0.0025	229	c.189 others(242): Show c.1894+8_1894+9insGGGGGCAGTGCACCCTGCAGGTGAGGGGTGGG GGGGGGGCGGTGTACCCTGCAGGTGAGGGGTGGGGGGGGGCGGTGTACCC TGCAGGTGAGGGGTGGGGGTAGGGGCAGTGCACCCTGCAGGTGAGGGGTG GGGGGGGCGGTGCACCCTGCAGGTGAGGGGTGGGGGGGGGGCGGTGTACC CTGCAGGTGAGGGGTGGGGGGGGGCGGTGCACCCTGCAGGTGAGGGG		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15					chr8	TogoVar
BOP1_chr8_144257045_144296438	144262844	A A	ACCCCTCA others(223): Show ACCCCTCACCTGCAGGGTGCACCGCCCCCCCCCACCCCTCACCTGCAGGG TACACCGCCCCCCCCCCACCCCTCACCTGCAGGGTGCACCGCCCCCCCCA CCCCTCACCTGCAGGGTGCACTGCCCCTACCCCCACCCCTCACCTGCAGG GTACACCGCCCCCCCCCACCCCTCACCTGCAGGGTACACCGCCCCCCCCC CACCCCTCACCTGCAGGGTGCACTGCCCCCC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0373 a0001c0008t0001g0373	1	398	0.0025	230	c.189 others(243): Show c.1894+8_1894+9insGGGGGGCAGTGCACCCTGCAGGTGAGGGGTGG GGGGGGGGCGGTGTACCCTGCAGGTGAGGGGTGGGGGGGGGCGGTGTACC CTGCAGGTGAGGGGTGGGGGTAGGGGCAGTGCACCCTGCAGGTGAGGGGT GGGGGGGGCGGTGCACCCTGCAGGTGAGGGGTGGGGGGGGGGCGGTGTAC CCTGCAGGTGAGGGGTGGGGGGGGGCGGTGCACCCTGCAGGTGAGGGG		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15					chr8	TogoVar
BOP1_chr8_144257045_144296438	144263480	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18979.hp2 NA19000.hp1 NA18979.hp2 NA19000.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0090 a0001c0012t0001g0151 a0001c0012t0001g0090 a0001c0012t0001g0151	2	398	0.0050	0	c.142 others(4): Show c.1422C>T	p.Ala others(6): Show p.Ala474Ala	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	11/16	1490/2428	1422/2241	474/746		chr8	TogoVar
BOP1_chr8_144257045_144296438	144263684	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 HG02602.hp2 HG02647.hp1 others(2): Show HG02055.hp2 HG02602.hp2 HG02647.hp1 HG04199.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0001 a0001c0003t0001 a0001c0006t0001	a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0006t0001g0165 others(2): Show a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0006t0001g0165 a0001c0006t0001g0166 a0001c0006t0001g0167	5	398	0.0126	0	c.129 others(6): Show c.1291+8C>T		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	10/15					chr8	TogoVar
BOP1_chr8_144257045_144296438	144263763	T T	TGAG TGAG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02257.hp2 HG02922.hp1 HG02109.hp1 HG02257.hp2 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0034 a0001c0002t0001g0173 a0001c0002t0001g0029 a0001c0002t0001g0034 a0001c0002t0001g0173	3	398	0.0075	3	c.122 others(16): Show c.1222-5_1222-3dupCTC		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	9/15					chr8	TogoVar
BOP1_chr8_144257045_144296438	144263768	A A	AGGC AGGC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(35): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG01192.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 NA18522.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0008t0001 a0002c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0050 a0001c0001t0001g0169 others(33): Show a0001c0001t0001g0009 a0001c0001t0001g0050 a0001c0001t0001g0169 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0226 a0001c0001t0001g0305 a0001c0002t0001g0003 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0371 a0001c0002t0001g0374 a0001c0003t0001g0152 a0001c0003t0001g0168 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0008t0001g0372 a0001c0008t0001g0373 a0001c0008t0001g0375 a0002c0004t0001g0051 a0002c0004t0001g0052 a0002c0004t0001g0184 a0002c0004t0001g0185 a0002c0004t0001g0186 a0002c0004t0001g0318	38	398	0.0955	3	c.122 others(17): Show c.1222-10_1222-8dupGCC		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	9/15					chr8	TogoVar
BORA_chr13_72722923_72761196	72743602	G G	GGTGA GGTGA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00673.hp2 HG00735.hp2 HG01884.hp1 others(51): Show HG00673.hp2 HG00735.hp2 HG01884.hp1 HG01891.hp1 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp1 HG03831.hp2 HG03942.hp1 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA18950.hp2 NA18966.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0028 others(37): Show a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0127 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0002g0007 a0001c0001t0002g0087 a0001c0001t0002g0197 a0001c0001t0004g0136	54	388	0.1392	4	c.454 others(15): Show c.454+3_454+6dupGAGT		BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding	6/11				INFO_REALIGN_3_PRIME	chr13	TogoVar
BORA_chr13_72722923_72761196	72753685	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	388	0.0026	0	c.148 others(6): Show c.1483-5G>A		BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding	10/11					chr13	TogoVar
BORCS7_chr10_102849259_102869961	102854430	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	454	0.0022	0	c.141 others(5): Show c.141+3G>T		BORCS7	ENSG00000166275.16	transcript	ENST00000339834.10	protein_coding	1/4					chr10	TogoVar
BORCS7_chr10_102849259_102869961	102862178	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0110 a0001c0004t0002g0110	1	454	0.0022	0	c.267 others(3): Show c.267G>A	p.Lys others(5): Show p.Lys89Lys	BORCS7	ENSG00000166275.16	transcript	ENST00000339834.10	protein_coding	4/5	295/2386	267/321	89/106		chr10	TogoVar
BORCS7_chr10_102849259_102869961	102862870	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	454	0.0022	0	c.270 others(5): Show c.270-3T>C		BORCS7	ENSG00000166275.16	transcript	ENST00000339834.10	protein_coding	4/4					chr10	TogoVar
BORCS8_chr19_19171906_19197152	19180759	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01123.hp2 HG02145.hp1 HG02486.hp1 others(12): Show HG01123.hp2 HG02145.hp1 HG02486.hp1 HG02572.hp2 HG02647.hp2 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03195.hp1 HG03486.hp2 HG03540.hp2 NA19240.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0039 a0002c0002t0001g0084 others(9): Show a0002c0002t0001g0017 a0002c0002t0001g0039 a0002c0002t0001g0084 a0002c0002t0001g0163 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0235 a0002c0002t0001g0244 a0002c0002t0001g0255 a0002c0002t0001g0299	15	428	0.0351	0	c.329 others(3): Show c.329C>T	p.Pro others(6): Show p.Pro110Leu	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/6	364/992	329/360	110/119		chr19	TogoVar
BPHL_chr6_3113711_3158578	3129046	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02965.hp1 HG03139.hp2 HG03491.hp2 others(4): Show HG02965.hp1 HG03139.hp2 HG03491.hp2 HG03927.hp2 HG04199.hp2 NA18944.hp2 NA19011.hp2	a0003 a0005 a0003 a0005	a0003c0006 a0005c0009 a0003c0006 a0005c0009	a0003c0006t0001 a0003c0006t0002 a0005c0009t0001 a0003c0006t0001 a0003c0006t0002 a0005c0009t0001	a0003c0006t0001g0232 a0003c0006t0002g0229 a0003c0006t0002g0230 others(4): Show a0003c0006t0001g0232 a0003c0006t0002g0229 a0003c0006t0002g0230 a0003c0006t0002g0231 a0003c0006t0002g0233 a0003c0006t0002g0234 a0005c0009t0001g0235	7	350	0.0200	0	c.380 others(3): Show c.380C>T	p.Ala others(6): Show p.Ala127Val	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	4/7	410/1909	380/876	127/291		chr6	TogoVar
BPHL_chr6_3113711_3158578	3140508	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01109.hp1 HG02145.hp1 HG02258.hp1 others(1): Show HG01109.hp1 HG02145.hp1 HG02258.hp1 HG02717.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0006 a0004c0007t0001g0006	4	350	0.0114	0	c.787 others(3): Show c.787C>T	p.Arg others(6): Show p.Arg263Trp	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/7	817/1909	787/876	263/291		chr6	TogoVar
BPIFA1_chr20_33230996_33248306	33238221	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp2 HG00423.hp1 HG00544.hp2 others(88): Show HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00621.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01081.hp2 HG01167.hp1 HG01256.hp2 HG01261.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01981.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG04184.hp1 HG04199.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18956.hp2 NA18962.hp2 NA18963.hp1 NA18983.hp2 NA18987.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19003.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19062.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp2 NA19087.hp1 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009	a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0009 others(42): Show a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0059 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0158 a0001c0001t0003g0041 a0001c0001t0003g0093 a0001c0001t0004g0021 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0008g0007 a0001c0001t0009g0003	91	382	0.2382	0	c.320 others(5): Show c.320+7T>C		BPIFA1	ENSG00000198183.13	transcript	ENST00000354297.9	protein_coding	3/8					chr20	TogoVar
BPIFA2_chr20_33163159_33186412	33169124	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG02258.hp2 HG03471.hp2 others(2): Show HG01884.hp1 HG02258.hp2 HG03471.hp2 HG03540.hp1 NA19043.hp2	a0003 a0003	a0003c0007 a0003c0009 a0003c0007 a0003c0009	a0003c0007t0001 a0003c0009t0003 a0003c0007t0001 a0003c0009t0003	a0003c0007t0001g0078 a0003c0007t0001g0079 a0003c0007t0001g0081 others(2): Show a0003c0007t0001g0078 a0003c0007t0001g0079 a0003c0007t0001g0081 a0003c0009t0003g0077 a0003c0009t0003g0080	5	378	0.0132	0	c.-15 others(5): Show c.-15-7T>C		BPIFA2	ENSG00000131050.11	transcript	ENST00000354932.6	protein_coding	1/8					chr20	TogoVar
BPIFA2_chr20_33163159_33186412	33174079	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18940.hp2 NA18950.hp2 NA18993.hp1 others(2): Show NA18940.hp2 NA18950.hp2 NA18993.hp1 NA19084.hp2 NA19087.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0010 a0004c0005t0001g0075 a0004c0005t0001g0010 a0004c0005t0001g0075	5	378	0.0132	0	c.303 others(3): Show c.303G>A	p.Gly others(6): Show p.Gly101Gly	BPIFA2	ENSG00000131050.11	transcript	ENST00000354932.6	protein_coding	4/9	369/1042	303/750	101/249		chr20	TogoVar
BPIFA2_chr20_33163159_33186412	33174079	G G	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01884.hp1 HG02258.hp2 HG03540.hp1 HG01884.hp1 HG02258.hp2 HG03540.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0078 a0003c0007t0001g0079 a0003c0007t0001g0081 a0003c0007t0001g0078 a0003c0007t0001g0079 a0003c0007t0001g0081	3	378	0.0079	0	c.303 others(3): Show c.303G>T	p.Gly others(6): Show p.Gly101Gly	BPIFA2	ENSG00000131050.11	transcript	ENST00000354932.6	protein_coding	4/9	369/1042	303/750	101/249		chr20	TogoVar
BPIFA2_chr20_33163159_33186412	33178231	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18954.hp2 NA19088.hp2 NA18954.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	2	378	0.0053	0	c.645 others(5): Show c.645+3G>A		BPIFA2	ENSG00000131050.11	transcript	ENST00000354932.6	protein_coding	6/8					chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33217668	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	416	0.0024	0	c.127 others(5): Show c.127+5G>A		BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding	1/6					chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33225094	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG01891.hp2 HG02145.hp1 others(30): Show HG01109.hp1 HG01891.hp2 HG02145.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0090 a0001c0001t0002g0009 a0001c0001t0002g0010 others(7): Show a0001c0001t0001g0090 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0054	33	416	0.0793	0	c.387 others(5): Show c.387-4G>A		BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding	3/6					chr20	TogoVar
BPIFA3_chr20_33212352_33232806	33226930	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02071.hp1 HG02071.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0004 a0009c0011t0001g0004	1	416	0.0024	0	c.622 others(3): Show c.622G>A	p.Val others(6): Show p.Val208Ile	BPIFA3	ENSG00000131059.12	transcript	ENST00000375454.8	protein_coding	6/7	807/1139	622/765	208/254		chr20	TogoVar

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