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
BIRC3_chr11_102312484_102344403	102336225	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	384	0.0026	0	c.157 others(6): Show c.1579+5G>A		BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding	7/8					chr11	TogoVar
BIRC6_chr2_32352023_32623878	32453810	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01109.hp1 HG01109.hp1	a0013 a0013	a0013c0045 a0013c0045	a0013c0045t0008 a0013c0045t0008	a0013c0045t0008g0151 a0013c0045t0008g0151	1	274	0.0037	0	c.462 others(4): Show c.4621A>T	p.Asn others(7): Show p.Asn1541Tyr	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/74	4760/15687	4621/14574	1541/4857		chr2	TogoVar
BIRC6_chr2_32352023_32623878	32485640	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG02258.hp1 HG02572.hp1 others(1): Show HG01884.hp2 HG02258.hp1 HG02572.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0196 a0001c0001t0001g0197 others(1): Show a0001c0001t0001g0056 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198	4	274	0.0146	0	c.769 others(6): Show c.7697-3T>C		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	39/73					chr2	TogoVar
BIRC6_chr2_32352023_32623878	32499523	G G	GTC GTC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01516.hp1 HG02451.hp1 HG02572.hp2 others(4): Show HG01516.hp1 HG02451.hp1 HG02572.hp2 HG02970.hp2 HG02976.hp1 NA18942.hp1 NA19030.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0017 a0002c0002 a0003c0017	a0002c0002t0002 a0002c0002t0003 a0003c0017t0003 a0002c0002t0002 a0002c0002t0003 a0003c0017t0003	a0002c0002t0002g0067 a0002c0002t0003g0117 a0002c0002t0003g0118 others(4): Show a0002c0002t0002g0067 a0002c0002t0003g0117 a0002c0002t0003g0118 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0121 a0003c0017t0003g0123	7	274	0.0256	2	c.846 others(15): Show c.8469-6_8469-5dupCT		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	45/73				INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32505001	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0078 a0002c0002t0002g0078	1	274	0.0037	0	c.950 others(6): Show c.9500-4C>T		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	49/73					chr2	TogoVar
BIRC6_chr2_32352023_32623878	32525027	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0158 a0001c0014t0001g0158	1	274	0.0037	0	c.117 others(7): Show c.11755+8T>A		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	58/73					chr2	TogoVar
BIRC6_chr2_32352023_32623878	32549487	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp2 HG02559.hp1 HG02559.hp2 others(10): Show HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0007 a0001c0010 a0001c0015 others(2): Show a0001c0007 a0001c0010 a0001c0015 a0001c0030 a0001c0046	a0001c0007t0004 a0001c0007t0006 a0001c0007t0007 others(4): Show a0001c0007t0004 a0001c0007t0006 a0001c0007t0007 a0001c0010t0002 a0001c0015t0001 a0001c0030t0004 a0001c0046t0002	a0001c0007t0004g0017 a0001c0007t0004g0018 a0001c0007t0004g0019 others(10): Show a0001c0007t0004g0017 a0001c0007t0004g0018 a0001c0007t0004g0019 a0001c0007t0004g0020 a0001c0007t0004g0022 a0001c0007t0006g0185 a0001c0007t0007g0021 a0001c0010t0002g0051 a0001c0010t0002g0052 a0001c0015t0001g0097 a0001c0015t0001g0105 a0001c0030t0004g0016 a0001c0046t0002g0155	13	274	0.0475	0	c.131 others(7): Show c.13144+6T>G		BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	65/73					chr2	TogoVar
BIVM_chr13_102794119_102846533	102834460	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG02257.hp1 HG03098.hp2 HG01884.hp1 HG02257.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123	3	404	0.0074	0	c.103 others(6): Show c.1035-6A>G		BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	8/10					chr13	TogoVar
BLK_chr8_11489387_11569599	11548033	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02572.hp1 HG02622.hp1 HG02818.hp2 others(2): Show HG02572.hp1 HG02622.hp1 HG02818.hp2 NA18906.hp1 NA19043.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0004 a0002c0007t0005 a0002c0007t0001 a0002c0007t0004 a0002c0007t0005	a0002c0007t0001g0294 a0002c0007t0004g0238 a0002c0007t0005g0239 others(2): Show a0002c0007t0001g0294 a0002c0007t0004g0238 a0002c0007t0005g0239 a0002c0007t0005g0240 a0002c0007t0005g0241	5	308	0.0162	0	c.177 others(3): Show c.177C>G	p.Asp others(5): Show p.Asp59Glu	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	4/13	383/2215	177/1518	59/505		chr8	TogoVar
BLM_chr15_90712346_90821166	90769593	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00323.hp2 HG00544.hp2 others(138): Show HG00280.hp2 HG00323.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00741.hp1 HG01069.hp2 HG01081.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18951.hp1 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18985.hp1 NA18985.hp2 NA18992.hp1 NA18992.hp2 NA18999.hp1 NA18999.hp2 NA19005.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19077.hp1 NA19080.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0009 others(13): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0001c0011 a0001c0014 a0001c0017 a0001c0021 a0001c0022 a0002c0004 a0002c0005 a0003c0003 a0004c0008 a0005c0007 a0006c0013 a0007c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0009t0001 a0001c0009t0002 a0001c0010t0001 a0001c0011t0001 a0001c0011t0002 a0001c0011t0011 a0001c0014t0004 a0001c0017t0001 a0001c0021t0002 a0001c0022t0001 a0002c0004t0001 a0002c0005t0001 a0002c0005t0002 a0002c0005t0010 a0003c0003t0002 a0003c0003t0003 a0004c0008t0002 a0005c0007t0002 a0006c0013t0001 a0007c0020t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(137): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0110 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0025 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0183 a0001c0001t0002g0247 a0001c0001t0004g0017 a0001c0001t0006g0078 a0001c0001t0008g0230 a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0024 a0001c0002t0001g0026 a0001c0002t0001g0049 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0137 a0001c0002t0001g0145 a0001c0002t0001g0157 a0001c0002t0001g0159 a0001c0002t0001g0174 a0001c0002t0001g0191 a0001c0002t0001g0200 a0001c0002t0001g0214 a0001c0002t0001g0237 a0001c0002t0001g0243 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0268 a0001c0002t0002g0160 a0001c0002t0007g0096 a0001c0009t0001g0080 a0001c0009t0001g0194 a0001c0009t0001g0277 a0001c0009t0002g0076 a0001c0010t0001g0041 a0001c0010t0001g0042 a0001c0010t0001g0043 a0001c0011t0001g0013 a0001c0011t0002g0044 a0001c0011t0011g0023 a0001c0014t0004g0016 a0001c0017t0001g0019 a0001c0021t0002g0027 a0001c0022t0001g0217 a0002c0004t0001g0064 a0002c0004t0001g0102 a0002c0004t0001g0107 a0002c0004t0001g0119 a0002c0004t0001g0139 a0002c0004t0001g0216 a0002c0004t0001g0257 a0002c0005t0001g0058 a0002c0005t0001g0118 a0002c0005t0001g0138 a0002c0005t0001g0273 a0002c0005t0002g0227 a0002c0005t0002g0238 a0002c0005t0010g0182 a0003c0003t0002g0129 a0003c0003t0002g0192 a0003c0003t0002g0197 a0003c0003t0002g0206 a0003c0003t0002g0234 a0003c0003t0002g0235 a0003c0003t0002g0256 a0003c0003t0003g0112 a0003c0003t0003g0211 a0003c0003t0003g0215 a0003c0003t0003g0248 a0004c0008t0002g0073 a0004c0008t0002g0074 a0004c0008t0002g0075 a0004c0008t0002g0253 a0005c0007t0002g0220 a0005c0007t0002g0221 a0005c0007t0002g0258 a0006c0013t0001g0269 a0007c0020t0001g0060	141	280	0.5036	0	c.255 others(6): Show c.2555+7T>C		BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	12/21					chr15	TogoVar
BLNK_chr10_96184171_96276569	96216739	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01175.hp2 HG02109.hp2 HG02258.hp2 others(4): Show HG01175.hp2 HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02886.hp2 HG03017.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0002 a0001c0001t0027 a0001c0001t0032 others(4): Show a0001c0001t0002 a0001c0001t0027 a0001c0001t0032 a0001c0003t0001 a0001c0004t0045 a0001c0007t0026 a0001c0007t0041	a0001c0001t0002g0292 a0001c0001t0027g0058 a0001c0001t0032g0246 others(4): Show a0001c0001t0002g0292 a0001c0001t0027g0058 a0001c0001t0032g0246 a0001c0003t0001g0294 a0001c0004t0045g0305 a0001c0007t0026g0036 a0001c0007t0041g0174	7	322	0.0217	0	c.526 others(5): Show c.526-5G>C		BLNK	ENSG00000095585.18	transcript	ENST00000224337.10	protein_coding	6/16					chr10	TogoVar
BLNK_chr10_96184171_96276569	96247049	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02145.hp2 HG02258.hp2 HG02615.hp2 others(9): Show HG02145.hp2 HG02258.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG03041.hp1 HG03209.hp1 HG03486.hp2 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0001 a0001c0003t0007 a0001c0003t0008 others(6): Show a0001c0003t0001 a0001c0003t0007 a0001c0003t0008 a0001c0003t0009 a0001c0003t0012 a0001c0003t0013 a0001c0003t0024 a0001c0003t0047 a0001c0008t0013	a0001c0003t0001g0294 a0001c0003t0007g0041 a0001c0003t0008g0017 others(9): Show a0001c0003t0001g0294 a0001c0003t0007g0041 a0001c0003t0008g0017 a0001c0003t0008g0295 a0001c0003t0009g0291 a0001c0003t0012g0013 a0001c0003t0013g0012 a0001c0003t0013g0020 a0001c0003t0013g0040 a0001c0003t0024g0021 a0001c0003t0047g0306 a0001c0008t0013g0293	12	322	0.0373	0	c.48G others(2): Show c.48G>A	p.Arg others(5): Show p.Arg16Arg	BLNK	ENSG00000095585.18	transcript	ENST00000224337.10	protein_coding	2/17	219/4344	48/1371	16/456		chr10	TogoVar
BLOC1S1_chr12_55711046_55724703	55719701	G G	A A	splice_region_variant splice_region_variant	LOW	HG01433.hp1 HG01884.hp2 HG02055.hp1 others(8): Show HG01433.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp2 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0020 a0001c0001t0002g0005 a0001c0001t0002g0020	11	410	0.0268	0	c.92 others(3): Show c.92G>A		BLOC1S1	ENSG00000135441.8	transcript	ENST00000548925.6	protein_coding	4/4					chr12	TogoVar
BLOC1S3_chr19_45173784_45186800	45178835	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01433.hp2 HG01884.hp1 HG02109.hp2 others(5): Show HG01433.hp2 HG01884.hp1 HG02109.hp2 HG02818.hp1 HG02965.hp2 HG02970.hp1 HG03195.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 others(1): Show a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0031	a0001c0001t0015g0002 a0001c0001t0017g0002 a0001c0001t0020g0002 others(1): Show a0001c0001t0015g0002 a0001c0001t0017g0002 a0001c0001t0020g0002 a0001c0001t0031g0002	8	426	0.0188	0	c.-10 others(5): Show c.-10+4C>G		BLOC1S3	ENSG00000189114.8	transcript	ENST00000433642.3	protein_coding	1/1					chr19	TogoVar
BLOC1S3_chr19_45173784_45186800	45179290	C C	G G	splice_region_variant splice_region_variant	LOW	HG02486.hp1 NA20300.hp2 HG02486.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0019 a0003c0007t0019 a0001c0001t0019 a0003c0007t0019	a0001c0001t0019g0001 a0003c0007t0019g0001 a0001c0001t0019g0001 a0003c0007t0019g0001	2	426	0.0047	0	c.-7C others(2): Show c.-7C>G		BLOC1S3	ENSG00000189114.8	transcript	ENST00000433642.3	protein_coding	2/2					chr19	TogoVar
BLTP1_chr4_122147331_122367752	122238094	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19010.hp2 NA19010.hp2	a0013 a0013	a0013c0044 a0013c0044	a0013c0044t0001 a0013c0044t0001	a0013c0044t0001g0133 a0013c0044t0001g0133	1	336	0.0030	0	c.357 others(4): Show c.3577A>T	p.Asn others(7): Show p.Asn1193Tyr	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	28/88	3952/16162	3577/15282	1193/5093		chr4	TogoVar
BLTP1_chr4_122147331_122367752	122238357	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0129 a0002c0004t0001g0129	1	336	0.0030	0	c.383 others(6): Show c.3833+7A>G		BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	28/87					chr4	TogoVar
BLTP1_chr4_122147331_122367752	122244031	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01361.hp2 HG01884.hp2 HG02055.hp2 others(14): Show HG01361.hp2 HG01884.hp2 HG02055.hp2 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03579.hp1 NA19030.hp2 NA19240.hp2	a0003 a0009 a0003 a0009	a0003c0006 a0009c0011 a0003c0006 a0009c0011	a0003c0006t0001 a0009c0011t0001 a0009c0011t0007 a0003c0006t0001 a0009c0011t0001 a0009c0011t0007	a0003c0006t0001g0009 a0003c0006t0001g0010 a0003c0006t0001g0011 others(14): Show a0003c0006t0001g0009 a0003c0006t0001g0010 a0003c0006t0001g0011 a0003c0006t0001g0012 a0003c0006t0001g0013 a0003c0006t0001g0038 a0003c0006t0001g0040 a0003c0006t0001g0041 a0003c0006t0001g0042 a0003c0006t0001g0043 a0003c0006t0001g0044 a0003c0006t0001g0046 a0003c0006t0001g0047 a0003c0006t0001g0048 a0009c0011t0001g0045 a0009c0011t0001g0112 a0009c0011t0007g0039	17	336	0.0506	0	c.491 others(6): Show c.4916+4T>G		BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	31/87					chr4	TogoVar
BLTP1_chr4_122147331_122367752	122245144	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0022 a0001c0025t0001g0022	1	336	0.0030	0	c.503 others(6): Show c.5037+4A>G		BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	32/87					chr4	TogoVar
BLTP1_chr4_122147331_122367752	122272413	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0072 a0001c0027t0001g0072	1	336	0.0030	0	c.844 others(6): Show c.8446+8T>C		BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	48/87					chr4	TogoVar
BLTP2_chr17_28609446_28650158	28620634	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00438.hp2 others(74): Show HG00099.hp2 HG00140.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00733.hp2 HG01069.hp2 HG01074.hp2 HG01099.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01993.hp2 HG02055.hp2 HG02074.hp1 HG02083.hp1 HG02451.hp1 HG02486.hp2 HG02602.hp2 HG02622.hp1 HG02698.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03579.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18945.hp2 NA18949.hp1 NA18951.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp2 NA18970.hp2 NA18977.hp2 NA18978.hp1 NA18984.hp1 NA18989.hp1 NA18990.hp1 NA19043.hp1 NA19060.hp2 NA19064.hp2 NA19072.hp1 NA19079.hp1 NA19084.hp1 NA20129.hp2 NA20805.hp1	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0015	a0001c0001 a0001c0017 a0001c0018 others(3): Show a0001c0001 a0001c0017 a0001c0018 a0006c0030 a0007c0026 a0015c0028	a0001c0001t0001 a0001c0017t0001 a0001c0018t0001 others(3): Show a0001c0001t0001 a0001c0017t0001 a0001c0018t0001 a0006c0030t0001 a0007c0026t0001 a0015c0028t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 others(40): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0017t0001g0073 a0001c0018t0001g0074 a0006c0030t0001g0044 a0007c0026t0001g0105 a0015c0028t0001g0106	77	310	0.2484	0	c.524 others(6): Show c.5243-4C>T		BLTP2	ENSG00000007202.16	transcript	ENST00000528896.7	protein_coding	28/38					chr17	TogoVar
BLTP3A_chr6_34787083_34882514	34821823	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	312	0.0032	0	c.207 others(5): Show c.207+8T>C		BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	2/20					chr6	TogoVar
BLTP3A_chr6_34787083_34882514	34823250	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00423.hp2 HG00438.hp2 others(164): Show HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18965.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18972.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19007.hp2 NA19009.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19068.hp1 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(13): Show a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0012 a0016 a0017 a0019 a0020 a0021 a0022 a0024	a0002c0002 a0002c0032 a0003c0003 others(19): Show a0002c0002 a0002c0032 a0003c0003 a0003c0022 a0003c0027 a0004c0004 a0004c0014 a0004c0015 a0004c0024 a0005c0005 a0006c0008 a0007c0007 a0009c0011 a0010c0010 a0012c0013 a0016c0028 a0017c0026 a0019c0025 a0020c0029 a0021c0031 a0022c0030 a0024c0033	a0002c0002t0002 a0002c0002t0023 a0002c0002t0036 others(49): Show a0002c0002t0002 a0002c0002t0023 a0002c0002t0036 a0002c0002t0037 a0002c0002t0040 a0002c0002t0042 a0002c0002t0046 a0002c0032t0002 a0003c0003t0003 a0003c0003t0009 a0003c0003t0011 a0003c0003t0012 a0003c0003t0021 a0003c0003t0030 a0003c0003t0034 a0003c0003t0038 a0003c0003t0043 a0003c0003t0045 a0003c0022t0003 a0003c0027t0012 a0004c0004t0005 a0004c0004t0010 a0004c0004t0011 a0004c0004t0018 a0004c0004t0028 a0004c0004t0029 a0004c0004t0031 a0004c0004t0032 a0004c0004t0033 a0004c0004t0044 a0004c0014t0011 a0004c0015t0005 a0004c0015t0011 a0004c0024t0017 a0005c0005t0007 a0005c0005t0021 a0006c0008t0013 a0007c0007t0019 a0007c0007t0024 a0007c0007t0035 a0009c0011t0022 a0009c0011t0039 a0010c0010t0005 a0010c0010t0017 a0012c0013t0003 a0016c0028t0019 a0017c0026t0041 a0019c0025t0005 a0020c0029t0003 a0021c0031t0002 a0022c0030t0002 a0024c0033t0003	a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 others(164): Show a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0097 a0002c0002t0023g0009 a0002c0002t0023g0010 a0002c0002t0036g0095 a0002c0002t0037g0074 a0002c0002t0040g0078 a0002c0002t0042g0050 a0002c0002t0046g0081 a0002c0032t0002g0073 a0003c0003t0003g0004 a0003c0003t0003g0102 a0003c0003t0003g0103 a0003c0003t0003g0104 a0003c0003t0003g0105 a0003c0003t0003g0106 a0003c0003t0003g0107 a0003c0003t0003g0108 a0003c0003t0003g0109 a0003c0003t0003g0110 a0003c0003t0003g0111 a0003c0003t0003g0118 a0003c0003t0003g0119 a0003c0003t0003g0120 a0003c0003t0003g0122 a0003c0003t0003g0123 a0003c0003t0003g0127 a0003c0003t0003g0129 a0003c0003t0003g0132 a0003c0003t0003g0133 a0003c0003t0003g0146 a0003c0003t0003g0147 a0003c0003t0003g0148 a0003c0003t0003g0151 a0003c0003t0003g0152 a0003c0003t0003g0164 a0003c0003t0009g0101 a0003c0003t0009g0114 a0003c0003t0009g0117 a0003c0003t0009g0128 a0003c0003t0009g0135 a0003c0003t0009g0136 a0003c0003t0011g0121 a0003c0003t0012g0113 a0003c0003t0012g0115 a0003c0003t0012g0139 a0003c0003t0012g0142 a0003c0003t0021g0112 a0003c0003t0030g0125 a0003c0003t0034g0126 a0003c0003t0038g0140 a0003c0003t0043g0138 a0003c0003t0045g0143 a0003c0022t0003g0166 a0003c0027t0012g0100 a0004c0004t0005g0006 a0004c0004t0005g0007 a0004c0004t0005g0008 a0004c0004t0005g0011 a0004c0004t0005g0012 a0004c0004t0005g0013 a0004c0004t0005g0014 a0004c0004t0005g0015 a0004c0004t0005g0016 a0004c0004t0005g0017 a0004c0004t0005g0020 a0004c0004t0005g0021 a0004c0004t0005g0026 a0004c0004t0005g0027 a0004c0004t0005g0044 a0004c0004t0005g0045 a0004c0004t0005g0098 a0004c0004t0010g0029 a0004c0004t0010g0034 a0004c0004t0010g0035 a0004c0004t0010g0036 a0004c0004t0010g0037 a0004c0004t0011g0022 a0004c0004t0018g0031 a0004c0004t0018g0032 a0004c0004t0018g0033 a0004c0004t0028g0023 a0004c0004t0029g0025 a0004c0004t0031g0163 a0004c0004t0032g0161 a0004c0004t0033g0030 a0004c0004t0044g0038 a0004c0014t0011g0042 a0004c0014t0011g0043 a0004c0015t0005g0024 a0004c0015t0011g0162 a0004c0024t0017g0005 a0005c0005t0007g0124 a0005c0005t0007g0130 a0005c0005t0007g0131 a0005c0005t0007g0134 a0005c0005t0007g0137 a0005c0005t0007g0141 a0005c0005t0007g0149 a0005c0005t0007g0150 a0005c0005t0021g0116 a0006c0008t0013g0153 a0006c0008t0013g0154 a0006c0008t0013g0155 a0006c0008t0013g0156 a0006c0008t0013g0157 a0007c0007t0019g0307 a0007c0007t0019g0308 a0007c0007t0024g0018 a0007c0007t0024g0019 a0007c0007t0035g0306 a0009c0011t0022g0158 a0009c0011t0022g0160 a0009c0011t0039g0159 a0010c0010t0005g0041 a0010c0010t0017g0039 a0010c0010t0017g0040 a0012c0013t0003g0099 a0012c0013t0003g0144 a0016c0028t0019g0305 a0017c0026t0041g0028 a0019c0025t0005g0046 a0020c0029t0003g0165 a0021c0031t0002g0070 a0022c0030t0002g0096 a0024c0033t0003g0145	167	312	0.5353	0	c.247 others(5): Show c.247-7A>G		BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	3/20					chr6	TogoVar
BLTP3A_chr6_34787083_34882514	34834413	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01361.hp2 HG03130.hp1 HG03579.hp2 HG01361.hp2 HG03130.hp1 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0012 a0003c0003t0012	a0003c0003t0012g0115 a0003c0003t0012g0139 a0003c0003t0012g0142 a0003c0003t0012g0115 a0003c0003t0012g0139 a0003c0003t0012g0142	3	312	0.0096	0	c.528 others(5): Show c.528+7G>A		BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	5/20					chr6	TogoVar
BLTP3B_chr12_100032072_100147874	100086363	G G	GA GA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp2 HG02809.hp1 HG03098.hp1 others(4): Show HG00741.hp2 HG02809.hp1 HG03098.hp1 HG03195.hp2 NA18987.hp1 NA20129.hp1 NA20805.hp2	a0001 a0005 a0009 a0001 a0005 a0009	a0001c0001 a0005c0006 a0009c0027 a0001c0001 a0005c0006 a0009c0027	a0001c0001t0001 a0005c0006t0001 a0009c0027t0001 a0001c0001t0001 a0005c0006t0001 a0009c0027t0001	a0001c0001t0001g0072 a0005c0006t0001g0178 a0005c0006t0001g0179 others(4): Show a0001c0001t0001g0072 a0005c0006t0001g0178 a0005c0006t0001g0179 a0005c0006t0001g0180 a0005c0006t0001g0181 a0005c0006t0001g0182 a0009c0027t0001g0033	7	188	0.0372	1	c.102 others(7): Show c.1022-6dupT		BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	8/20					chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100103955	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp2 HG01243.hp1 HG02818.hp2 others(2): Show HG01167.hp2 HG01243.hp1 HG02818.hp2 HG03098.hp2 HG03516.hp2	a0007 a0015 a0007 a0015	a0007c0008 a0015c0024 a0007c0008 a0015c0024	a0007c0008t0001 a0015c0024t0001 a0007c0008t0001 a0015c0024t0001	a0007c0008t0001g0183 a0007c0008t0001g0184 a0007c0008t0001g0185 others(2): Show a0007c0008t0001g0183 a0007c0008t0001g0184 a0007c0008t0001g0185 a0007c0008t0001g0186 a0015c0024t0001g0187	5	188	0.0266	0	c.208 others(5): Show c.208-4G>T		BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	2/20					chr12	TogoVar
BLVRA_chr7_43753680_43812342	43792715	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19075.hp2 NA19075.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0261 a0005c0014t0001g0261	1	414	0.0024	0	c.255 others(3): Show c.255G>C	p.Arg others(5): Show p.Arg85Ser	BLVRA	ENSG00000106605.11	transcript	ENST00000265523.9	protein_coding	5/8	331/1074	255/891	85/296		chr7	TogoVar
BLVRA_chr7_43753680_43812342	43792716	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19075.hp2 NA19075.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0261 a0005c0014t0001g0261	1	414	0.0024	0	c.256 others(3): Show c.256C>A	p.Gln others(5): Show p.Gln86Lys	BLVRA	ENSG00000106605.11	transcript	ENST00000265523.9	protein_coding	5/8	332/1074	256/891	86/296		chr7	TogoVar
BLVRA_chr7_43753680_43812342	43800461	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0286 a0002c0003t0001g0286	1	414	0.0024	0	c.353 others(5): Show c.353-4A>G		BLVRA	ENSG00000106605.11	transcript	ENST00000265523.9	protein_coding	5/7					chr7	TogoVar
BMAL1_chr11_13272790_13392266	13358426	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(31): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00673.hp1 HG01070.hp2 HG01071.hp1 HG01261.hp2 HG01928.hp1 HG02015.hp2 HG03239.hp1 HG03831.hp1 NA18946.hp1 NA18954.hp1 NA18957.hp2 NA18968.hp2 NA18971.hp1 NA18972.hp2 NA18983.hp2 NA18993.hp1 NA18994.hp1 NA18999.hp1 NA19005.hp1 NA19007.hp2 NA19011.hp2 NA19057.hp1 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0067 others(31): Show a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0067 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0093 a0001c0001t0001g0112 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0188 a0001c0001t0001g0216 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0242 a0001c0001t0001g0255 a0001c0001t0001g0260 a0001c0001t0001g0267 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0002t0001g0039 a0001c0002t0001g0047 a0001c0002t0001g0101 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0293	34	314	0.1083	0	c.222 others(5): Show c.222-8T>C		BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	7/19					chr11	TogoVar
BMAL1_chr11_13272790_13392266	13378452	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	314	0.0032	0	c.152 others(6): Show c.1523+7A>C		BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	17/19					chr11	TogoVar
BMAL2_chr12_27327836_27430286	27385567	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	310	0.0032	0	c.564 others(5): Show c.564+7A>G		BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	6/16					chr12	TogoVar
BMAL2_chr12_27327836_27430286	27390090	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp1 NA19062.hp2 HG00621.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0100 a0001c0001t0001g0109	2	310	0.0065	0	c.776 others(5): Show c.776-6C>T		BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	8/16					chr12	TogoVar
BMP1_chr8_22160372_22206482	22179700	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	418	0.0024	0	c.837 others(5): Show c.837-5T>C		BMP1	ENSG00000168487.20	transcript	ENST00000306349.13	protein_coding	6/15					chr8	TogoVar
BMP1_chr8_22160372_22206482	22196675	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp1 HG01243.hp2 HG02004.hp2 others(6): Show HG00741.hp1 HG01243.hp2 HG02004.hp2 HG02055.hp1 HG02257.hp2 HG02818.hp1 HG02965.hp2 HG02976.hp1 NA18906.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0156 a0001c0001t0001g0223 a0001c0001t0001g0235 others(6): Show a0001c0001t0001g0156 a0001c0001t0001g0223 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0328 a0001c0001t0001g0368 a0006c0009t0001g0234	9	418	0.0215	0	c.176 others(6): Show c.1766-5C>T		BMP1	ENSG00000168487.20	transcript	ENST00000306349.13	protein_coding	13/15					chr8	TogoVar
BMP1_chr8_22160372_22217326	22179700	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	408	0.0025	0	c.837 others(5): Show c.837-5T>C		BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	6/19					chr8	TogoVar
BMP1_chr8_22160372_22217326	22196675	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp1 HG01243.hp2 HG02004.hp2 others(6): Show HG00741.hp1 HG01243.hp2 HG02004.hp2 HG02055.hp1 HG02257.hp2 HG02818.hp1 HG02965.hp2 HG02976.hp1 NA18906.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0007 a0001c0012 others(1): Show a0001c0001 a0001c0007 a0001c0012 a0008c0021	a0001c0001t0001 a0001c0007t0001 a0001c0007t0002 others(2): Show a0001c0001t0001 a0001c0007t0001 a0001c0007t0002 a0001c0012t0001 a0008c0021t0001	a0001c0001t0001g0141 a0001c0007t0001g0226 a0001c0007t0001g0227 others(6): Show a0001c0001t0001g0141 a0001c0007t0001g0226 a0001c0007t0001g0227 a0001c0007t0002g0282 a0001c0012t0001g0211 a0001c0012t0001g0278 a0001c0012t0001g0324 a0001c0012t0001g0365 a0008c0021t0001g0225	9	408	0.0221	0	c.176 others(6): Show c.1766-5C>T		BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	13/19					chr8	TogoVar
BMP1_chr8_22160372_22217326	22207524	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	408	0.0025	0	c.257 others(6): Show c.2575+8C>A		BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	18/19					chr8	TogoVar
BMP1_chr8_22160372_22217326	22211590	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp2 HG03130.hp1 HG02615.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0239 a0001c0002t0001g0291 a0001c0002t0001g0239 a0001c0002t0001g0291	2	408	0.0049	0	c.282 others(6): Show c.2827-4C>T		BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	19/19					chr8	TogoVar
BMP2K_chr4_78771350_78921365	78833578	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp1 HG02258.hp1 HG02280.hp2 others(14): Show HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02886.hp1 HG02970.hp2 HG03098.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG06807.hp1 NA18906.hp2 NA20129.hp2 NA21309.hp2	a0001 a0005 a0013 a0001 a0005 a0013	a0001c0001 a0001c0012 a0005c0004 others(1): Show a0001c0001 a0001c0012 a0005c0004 a0013c0023	a0001c0001t0006 a0001c0012t0015 a0005c0004t0005 others(3): Show a0001c0001t0006 a0001c0012t0015 a0005c0004t0005 a0005c0004t0006 a0005c0004t0016 a0013c0023t0005	a0001c0001t0006g0030 a0001c0001t0006g0034 a0001c0001t0006g0043 others(14): Show a0001c0001t0006g0030 a0001c0001t0006g0034 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0012t0015g0032 a0001c0012t0015g0036 a0005c0004t0005g0024 a0005c0004t0005g0026 a0005c0004t0005g0027 a0005c0004t0005g0028 a0005c0004t0005g0033 a0005c0004t0005g0037 a0005c0004t0005g0038 a0005c0004t0006g0031 a0005c0004t0016g0025 a0005c0004t0016g0029 a0013c0023t0005g0035	17	204	0.0833	0	c.298 others(5): Show c.298-4C>T		BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15					chr4	TogoVar
BMP7_chr20_57163753_57271641	57174925	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp1 HG03540.hp2 HG02486.hp1 HG03540.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0234 a0001c0005t0011g0235 a0001c0005t0011g0234 a0001c0005t0011g0235	2	272	0.0074	0	c.103 others(6): Show c.1035+6G>A		BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	5/6					chr20	TogoVar
BMP7_chr20_57163753_57271641	57202628	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03209.hp2 NA18906.hp2 HG03209.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0024 a0001c0001t0014 a0001c0001t0024	a0001c0001t0014g0257 a0001c0001t0024g0041 a0001c0001t0014g0257 a0001c0001t0024g0041	2	272	0.0074	0	c.612 others(5): Show c.612-5C>T		BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	2/6					chr20	TogoVar
BMP8A_chr1_39486636_39534869	39511903	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(233): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0006 others(6): Show a0001 a0002 a0006 a0007 a0009 a0012 a0014 a0020 a0021	a0001c0001 a0001c0014 a0001c0021 others(12): Show a0001c0001 a0001c0014 a0001c0021 a0001c0028 a0001c0029 a0002c0002 a0002c0019 a0002c0030 a0006c0005 a0007c0007 a0009c0012 a0012c0017 a0014c0020 a0020c0031 a0021c0026	a0001c0001t0001 a0001c0001t0012 a0001c0001t0017 others(39): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0057 a0001c0014t0001 a0001c0021t0001 a0001c0028t0001 a0001c0029t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0002t0024 a0002c0019t0008 a0002c0030t0002 a0006c0005t0001 a0006c0005t0007 a0006c0005t0035 a0007c0007t0005 a0007c0007t0030 a0009c0012t0019 a0009c0012t0048 a0012c0017t0001 a0012c0017t0037 a0014c0020t0002 a0020c0031t0001 a0021c0026t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(176): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0012g0007 a0001c0001t0012g0177 a0001c0001t0017g0001 a0001c0001t0017g0208 a0001c0001t0017g0227 a0001c0001t0018g0017 a0001c0001t0018g0154 a0001c0001t0022g0034 a0001c0001t0023g0202 a0001c0001t0023g0220 a0001c0001t0027g0183 a0001c0001t0032g0007 a0001c0001t0034g0007 a0001c0001t0036g0151 a0001c0001t0038g0187 a0001c0001t0039g0229 a0001c0001t0040g0018 a0001c0001t0041g0206 a0001c0001t0042g0042 a0001c0001t0043g0218 a0001c0001t0044g0001 a0001c0001t0045g0242 a0001c0001t0047g0017 a0001c0001t0057g0203 a0001c0014t0001g0008 a0001c0014t0001g0200 a0001c0014t0001g0213 a0001c0021t0001g0005 a0001c0028t0001g0212 a0001c0029t0001g0001 a0002c0002t0002g0006 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0033 a0002c0002t0002g0054 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0115 a0002c0002t0002g0119 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0125 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0143 a0002c0002t0002g0145 a0002c0002t0002g0156 a0002c0002t0002g0162 a0002c0002t0005g0171 a0002c0002t0008g0032 a0002c0002t0008g0127 a0002c0002t0008g0128 a0002c0002t0008g0129 a0002c0002t0008g0142 a0002c0002t0024g0116 a0002c0002t0024g0120 a0002c0019t0008g0117 a0002c0019t0008g0118 a0002c0030t0002g0131 a0006c0005t0001g0003 a0006c0005t0001g0041 a0006c0005t0001g0047 a0006c0005t0001g0126 a0006c0005t0001g0184 a0006c0005t0001g0189 a0006c0005t0001g0198 a0006c0005t0001g0199 a0006c0005t0001g0228 a0006c0005t0001g0230 a0006c0005t0007g0163 a0006c0005t0007g0165 a0006c0005t0007g0166 a0006c0005t0007g0172 a0006c0005t0007g0173 a0006c0005t0007g0174 a0006c0005t0007g0176 a0006c0005t0007g0241 a0006c0005t0035g0214 a0007c0007t0005g0014 a0007c0007t0005g0086 a0007c0007t0005g0096 a0007c0007t0005g0097 a0007c0007t0005g0098 a0007c0007t0030g0087 a0009c0012t0019g0250 a0009c0012t0019g0251 a0009c0012t0019g0252 a0009c0012t0048g0253 a0012c0017t0001g0073 a0012c0017t0037g0076 a0014c0020t0002g0130 a0020c0031t0001g0147 a0021c0026t0001g0040	236	362	0.6519	0	c.672 others(3): Show c.672C>T	p.Asp others(6): Show p.Asp224Asp	BMP8A	ENSG00000183682.8	transcript	ENST00000331593.6	protein_coding	3/7	1028/5636	672/1209	224/402		chr1	TogoVar
BMP8B_chr1_39752182_39793865	39774309	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(232): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18962.hp1 NA18963.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0021	a0001c0002 a0001c0005 a0002c0007 others(16): Show a0001c0002 a0001c0005 a0002c0007 a0002c0011 a0003c0004 a0003c0014 a0004c0006 a0004c0012 a0005c0008 a0005c0032 a0006c0009 a0007c0010 a0008c0015 a0009c0017 a0010c0018 a0011c0029 a0012c0028 a0013c0027 a0021c0016	a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 others(34): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0002t0015 a0001c0002t0017 a0001c0002t0018 a0001c0002t0031 a0001c0002t0032 a0001c0002t0037 a0001c0005t0002 a0001c0005t0003 a0002c0007t0006 a0002c0007t0010 a0002c0007t0039 a0002c0011t0006 a0003c0004t0004 a0003c0004t0007 a0003c0014t0004 a0004c0006t0005 a0004c0012t0005 a0005c0008t0004 a0005c0008t0012 a0005c0008t0016 a0005c0032t0004 a0006c0009t0007 a0006c0009t0029 a0006c0009t0030 a0007c0010t0003 a0008c0015t0033 a0008c0015t0034 a0009c0017t0038 a0010c0018t0002 a0011c0029t0003 a0012c0028t0009 a0013c0027t0035 a0021c0016t0003	a0001c0002t0002g0002 a0001c0002t0002g0012 a0001c0002t0002g0039 others(144): Show a0001c0002t0002g0002 a0001c0002t0002g0012 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0159 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0168 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0006g0243 a0001c0002t0009g0015 a0001c0002t0009g0025 a0001c0002t0009g0045 a0001c0002t0009g0185 a0001c0002t0009g0186 a0001c0002t0009g0187 a0001c0002t0009g0188 a0001c0002t0010g0018 a0001c0002t0010g0210 a0001c0002t0015g0043 a0001c0002t0017g0048 a0001c0002t0018g0044 a0001c0002t0031g0160 a0001c0002t0032g0150 a0001c0002t0037g0189 a0001c0005t0002g0146 a0001c0005t0003g0011 a0001c0005t0003g0017 a0001c0005t0003g0125 a0001c0005t0003g0134 a0001c0005t0003g0135 a0001c0005t0003g0136 a0001c0005t0003g0137 a0001c0005t0003g0138 a0001c0005t0003g0139 a0001c0005t0003g0140 a0001c0005t0003g0174 a0001c0005t0003g0176 a0002c0007t0006g0019 a0002c0007t0006g0029 a0002c0007t0006g0049 a0002c0007t0006g0050 a0002c0007t0006g0240 a0002c0007t0006g0241 a0002c0007t0006g0242 a0002c0007t0006g0244 a0002c0007t0006g0246 a0002c0007t0010g0209 a0002c0007t0039g0245 a0002c0011t0006g0020 a0002c0011t0006g0247 a0002c0011t0006g0248 a0002c0011t0006g0249 a0002c0011t0006g0250 a0002c0011t0006g0251 a0003c0004t0004g0028 a0003c0004t0004g0211 a0003c0004t0004g0212 a0003c0004t0004g0213 a0003c0004t0004g0214 a0003c0004t0004g0216 a0003c0004t0004g0217 a0003c0004t0004g0218 a0003c0004t0007g0013 a0003c0004t0007g0126 a0003c0004t0007g0127 a0003c0004t0007g0145 a0003c0004t0007g0147 a0003c0004t0007g0158 a0003c0004t0007g0163 a0003c0004t0007g0167 a0003c0004t0007g0169 a0003c0004t0007g0177 a0003c0014t0004g0024 a0003c0014t0004g0180 a0003c0014t0004g0181 a0003c0014t0004g0182 a0003c0014t0004g0183 a0004c0006t0005g0008 a0004c0006t0005g0224 a0004c0006t0005g0225 a0004c0006t0005g0226 a0004c0006t0005g0227 a0004c0006t0005g0228 a0004c0006t0005g0229 a0004c0006t0005g0230 a0004c0006t0005g0231 a0004c0006t0005g0232 a0004c0006t0005g0233 a0004c0006t0005g0234 a0004c0006t0005g0237 a0004c0012t0005g0016 a0004c0012t0005g0235 a0004c0012t0005g0238 a0004c0012t0005g0239 a0005c0008t0004g0027 a0005c0008t0004g0191 a0005c0008t0004g0193 a0005c0008t0004g0194 a0005c0008t0004g0195 a0005c0008t0004g0208 a0005c0008t0004g0219 a0005c0008t0012g0026 a0005c0008t0012g0192 a0005c0008t0012g0196 a0005c0008t0012g0197 a0005c0008t0016g0215 a0005c0008t0016g0220 a0005c0032t0004g0223 a0006c0009t0007g0014 a0006c0009t0007g0042 a0006c0009t0007g0141 a0006c0009t0007g0157 a0006c0009t0029g0122 a0006c0009t0030g0156 a0007c0010t0003g0005 a0007c0010t0003g0175 a0008c0015t0033g0178 a0008c0015t0034g0179 a0009c0017t0038g0236 a0010c0018t0002g0124 a0011c0029t0003g0173 a0012c0028t0009g0184 a0013c0027t0035g0222 a0021c0016t0003g0123	235	430	0.5465	0	c.672 others(3): Show c.672C>T	p.Asp others(6): Show p.Asp224Asp	BMP8B	ENSG00000116985.12	transcript	ENST00000372827.8	protein_coding	3/7	1052/4826	672/1209	224/402		chr1	TogoVar
BMPR1A_chr10_86751619_86932969	86917129	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0009 a0002c0001t0009	a0002c0001t0009g0042 a0002c0001t0009g0042	1	278	0.0036	0	c.676 others(5): Show c.676-5T>C		BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	8/12					chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86921701	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG02886.hp1 HG02895.hp1 others(10): Show HG01243.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0007 a0001c0003 a0004c0007	a0001c0003t0014 a0001c0003t0031 a0001c0003t0032 others(4): Show a0001c0003t0014 a0001c0003t0031 a0001c0003t0032 a0001c0003t0033 a0001c0003t0055 a0001c0003t0057 a0004c0007t0010	a0001c0003t0014g0005 a0001c0003t0014g0007 a0001c0003t0014g0008 others(10): Show a0001c0003t0014g0005 a0001c0003t0014g0007 a0001c0003t0014g0008 a0001c0003t0014g0010 a0001c0003t0014g0012 a0001c0003t0031g0018 a0001c0003t0031g0020 a0001c0003t0032g0004 a0001c0003t0032g0009 a0001c0003t0033g0019 a0001c0003t0055g0006 a0001c0003t0057g0003 a0004c0007t0010g0016	13	278	0.0468	0	c.134 others(6): Show c.1342+6A>G		BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	11/12					chr10	TogoVar
BMPR1B_chr4_94752955_95163448	95123905	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03654.hp2 HG03654.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0034 a0004c0005t0034	a0004c0005t0034g0140 a0004c0005t0034g0140	1	226	0.0044	0	c.445 others(3): Show c.445C>T	p.Arg others(6): Show p.Arg149Trp	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	7/13	741/5580	445/1509	149/502		chr4	TogoVar
BMS1_chr10_42777795_42839937	42782834	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp1 HG02896.hp2 HG02572.hp1 HG02896.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0014 a0007c0012t0014	a0007c0012t0014g0281 a0007c0012t0014g0282 a0007c0012t0014g0281 a0007c0012t0014g0282	2	388	0.0052	0	c.-34 others(5): Show c.-34+4C>T		BMS1	ENSG00000165733.8	transcript	ENST00000374518.6	protein_coding	1/22					chr10	TogoVar
BMS1_chr10_42777795_42839937	42784354	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0033 a0001c0004t0033	a0001c0004t0033g0148 a0001c0004t0033g0148	1	388	0.0026	0	c.-33 others(5): Show c.-33-8C>T		BMS1	ENSG00000165733.8	transcript	ENST00000374518.6	protein_coding	1/22					chr10	TogoVar
BMS1_chr10_42777795_42839937	42784362	G G	A A	splice_region_variant splice_region_variant	LOW	HG02602.hp1 HG03239.hp2 HG03688.hp1 HG02602.hp1 HG03239.hp2 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0002 a0001c0003t0010g0011 a0001c0003t0010g0002 a0001c0003t0010g0011	3	388	0.0077	0	c.-33 others(3): Show c.-33G>A		BMS1	ENSG00000165733.8	transcript	ENST00000374518.6	protein_coding	2/23					chr10	TogoVar

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