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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Select column to sort.

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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
BCOR_chrX_40046251_40102958	40052404	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00735.hp2 HG01070.hp2 others(19): Show HG00099.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01255.hp1 HG01891.hp2 HG02145.hp1 HG02486.hp1 HG02622.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03195.hp1 HG03239.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG04184.hp2 NA19240.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0002t0003 a0001c0003t0003 a0001c0006t0003	a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0093 others(15): Show a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0093 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0132 a0001c0001t0003g0163 a0001c0001t0003g0242 a0001c0001t0004g0026 a0001c0001t0004g0030 a0001c0001t0004g0045 a0001c0001t0012g0107 a0001c0002t0003g0174 a0001c0002t0003g0181 a0001c0003t0003g0184 a0001c0003t0003g0185 a0001c0006t0003g0146	22	257	0.0856	0	c.497 others(6): Show c.4977-4G>T		BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding	14/14					chrX	TogoVar
BCOR_chrX_40046251_40102958	40055510	AG AG	A A	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA18956.hp1 NA18956.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0103 a0010c0013t0001g0103	1	257	0.0039	-1	c.459 others(5): Show c.4598delC	p.Pro others(6): Show p.Pro1533fs	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding	12/15	5382/6910	4598/5268	1533/1755		chrX	TogoVar
BCOR_chrX_40046251_40102958	40064330	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	257	0.0039	0	c.350 others(6): Show c.3502+6C>T		BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding	7/14					chrX	TogoVar
BCR_chr22_23175509_23323037	23253980	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00673.hp1 HG00673.hp1	a0003 a0003	a0003c0031 a0003c0031	a0003c0031t0129 a0003c0031t0129	a0003c0031t0129g0277 a0003c0031t0129g0277	1	296	0.0034	0	c.146 others(4): Show c.1461G>A	p.Ala others(6): Show p.Ala487Ala	BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	2/23	1913/6783	1461/3816	487/1271		chr22	TogoVar
BCR_chr22_23175509_23323037	23261540	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02630.hp1 HG02976.hp1 HG03579.hp1 HG02630.hp1 HG02976.hp1 HG03579.hp1	a0001 a0001	a0001c0026 a0001c0032 a0001c0033 a0001c0026 a0001c0032 a0001c0033	a0001c0026t0119 a0001c0032t0116 a0001c0033t0047 a0001c0026t0119 a0001c0032t0116 a0001c0033t0047	a0001c0026t0119g0275 a0001c0032t0116g0199 a0001c0033t0047g0269 a0001c0026t0119g0275 a0001c0032t0116g0199 a0001c0033t0047g0269	3	296	0.0101	0	c.175 others(4): Show c.1752G>A	p.Leu others(6): Show p.Leu584Leu	BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	4/23	2204/6783	1752/3816	584/1271		chr22	TogoVar
BCR_chr22_23175509_23323037	23287285	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0118 a0001c0010t0118	a0001c0010t0118g0201 a0001c0010t0118g0201	1	296	0.0034	0	c.252 others(6): Show c.2526+7G>T		BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	11/22					chr22	TogoVar
BCR_chr22_23175509_23323037	23290334	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0199 a0001c0004t0199	a0001c0004t0199g0031 a0001c0004t0199g0031	1	296	0.0034	0	c.270 others(6): Show c.2708-5C>T		BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	13/22					chr22	TogoVar
BCR_chr22_23175509_23323037	23310316	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(171): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA18997.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0010	a0001c0001 a0001c0002 a0001c0004 others(24): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0017 a0001c0018 a0001c0020 a0001c0024 a0001c0026 a0001c0032 a0001c0033 a0001c0037 a0002c0003 a0002c0007 a0002c0014 a0002c0022 a0002c0027 a0002c0028 a0002c0036 a0004c0011 a0008c0029 a0010c0039	a0001c0001t0004 a0001c0001t0011 a0001c0001t0017 others(130): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0017 a0001c0001t0023 a0001c0001t0055 a0001c0001t0056 a0001c0001t0059 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0082 a0001c0001t0100 a0001c0001t0101 a0001c0001t0104 a0001c0001t0120 a0001c0001t0124 a0001c0001t0126 a0001c0001t0159 a0001c0002t0004 a0001c0002t0011 a0001c0002t0016 a0001c0002t0020 a0001c0002t0033 a0001c0002t0045 a0001c0002t0052 a0001c0002t0083 a0001c0002t0108 a0001c0002t0111 a0001c0002t0112 a0001c0002t0113 a0001c0002t0117 a0001c0002t0153 a0001c0002t0158 a0001c0002t0206 a0001c0002t0218 a0001c0004t0014 a0001c0004t0035 a0001c0004t0036 a0001c0004t0109 a0001c0004t0166 a0001c0004t0167 a0001c0004t0168 a0001c0004t0170 a0001c0004t0174 a0001c0004t0178 a0001c0004t0180 a0001c0004t0181 a0001c0004t0182 a0001c0004t0184 a0001c0004t0185 a0001c0004t0186 a0001c0004t0187 a0001c0004t0188 a0001c0004t0189 a0001c0004t0200 a0001c0004t0208 a0001c0004t0210 a0001c0004t0212 a0001c0004t0213 a0001c0004t0215 a0001c0005t0014 a0001c0005t0037 a0001c0005t0038 a0001c0005t0105 a0001c0005t0106 a0001c0005t0107 a0001c0005t0171 a0001c0005t0172 a0001c0005t0173 a0001c0005t0175 a0001c0005t0176 a0001c0006t0001 a0001c0006t0061 a0001c0006t0084 a0001c0009t0039 a0001c0009t0115 a0001c0009t0211 a0001c0010t0010 a0001c0010t0118 a0001c0012t0012 a0001c0013t0011 a0001c0013t0090 a0001c0017t0006 a0001c0017t0114 a0001c0018t0044 a0001c0020t0156 a0001c0020t0157 a0001c0024t0177 a0001c0026t0119 a0001c0032t0116 a0001c0033t0047 a0001c0037t0046 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0017 a0002c0003t0019 a0002c0003t0022 a0002c0003t0043 a0002c0003t0053 a0002c0003t0054 a0002c0003t0057 a0002c0003t0058 a0002c0003t0060 a0002c0003t0087 a0002c0003t0088 a0002c0003t0089 a0002c0003t0091 a0002c0003t0092 a0002c0003t0093 a0002c0003t0095 a0002c0003t0096 a0002c0003t0098 a0002c0003t0099 a0002c0003t0102 a0002c0003t0103 a0002c0003t0110 a0002c0003t0155 a0002c0007t0014 a0002c0007t0034 a0002c0007t0169 a0002c0007t0183 a0002c0007t0207 a0002c0014t0006 a0002c0022t0018 a0002c0027t0214 a0002c0028t0179 a0002c0036t0097 a0004c0011t0125 a0004c0011t0127 a0004c0011t0128 a0008c0029t0209 a0010c0039t0094	a0001c0001t0004g0240 a0001c0001t0011g0223 a0001c0001t0017g0200 others(169): Show a0001c0001t0004g0240 a0001c0001t0011g0223 a0001c0001t0017g0200 a0001c0001t0023g0235 a0001c0001t0023g0237 a0001c0001t0055g0003 a0001c0001t0056g0003 a0001c0001t0059g0166 a0001c0001t0062g0142 a0001c0001t0063g0141 a0001c0001t0064g0186 a0001c0001t0082g0124 a0001c0001t0100g0188 a0001c0001t0101g0189 a0001c0001t0104g0184 a0001c0001t0120g0252 a0001c0001t0124g0099 a0001c0001t0126g0233 a0001c0001t0159g0287 a0001c0002t0004g0227 a0001c0002t0004g0261 a0001c0002t0004g0262 a0001c0002t0011g0242 a0001c0002t0016g0195 a0001c0002t0016g0196 a0001c0002t0020g0133 a0001c0002t0020g0140 a0001c0002t0033g0132 a0001c0002t0033g0283 a0001c0002t0045g0270 a0001c0002t0052g0155 a0001c0002t0083g0119 a0001c0002t0108g0290 a0001c0002t0111g0236 a0001c0002t0112g0254 a0001c0002t0113g0212 a0001c0002t0117g0291 a0001c0002t0153g0197 a0001c0002t0158g0286 a0001c0002t0206g0177 a0001c0002t0218g0203 a0001c0004t0014g0043 a0001c0004t0035g0019 a0001c0004t0035g0041 a0001c0004t0036g0072 a0001c0004t0036g0073 a0001c0004t0109g0273 a0001c0004t0166g0032 a0001c0004t0167g0042 a0001c0004t0168g0037 a0001c0004t0170g0053 a0001c0004t0174g0015 a0001c0004t0178g0028 a0001c0004t0180g0084 a0001c0004t0181g0058 a0001c0004t0182g0064 a0001c0004t0184g0034 a0001c0004t0185g0022 a0001c0004t0186g0050 a0001c0004t0187g0067 a0001c0004t0188g0071 a0001c0004t0189g0069 a0001c0004t0200g0065 a0001c0004t0208g0077 a0001c0004t0210g0018 a0001c0004t0212g0021 a0001c0004t0213g0025 a0001c0004t0215g0029 a0001c0005t0014g0038 a0001c0005t0037g0039 a0001c0005t0037g0040 a0001c0005t0038g0030 a0001c0005t0038g0060 a0001c0005t0105g0092 a0001c0005t0106g0095 a0001c0005t0107g0274 a0001c0005t0171g0036 a0001c0005t0172g0044 a0001c0005t0173g0045 a0001c0005t0175g0011 a0001c0005t0176g0008 a0001c0006t0001g0145 a0001c0006t0001g0149 a0001c0006t0001g0156 a0001c0006t0001g0158 a0001c0006t0001g0159 a0001c0006t0001g0161 a0001c0006t0001g0163 a0001c0006t0001g0165 a0001c0006t0001g0190 a0001c0006t0061g0162 a0001c0006t0084g0120 a0001c0009t0039g0055 a0001c0009t0039g0056 a0001c0009t0115g0272 a0001c0009t0211g0059 a0001c0010t0010g0002 a0001c0010t0010g0103 a0001c0010t0118g0201 a0001c0012t0012g0089 a0001c0012t0012g0090 a0001c0012t0012g0093 a0001c0013t0011g0169 a0001c0013t0090g0187 a0001c0017t0006g0170 a0001c0017t0114g0172 a0001c0018t0044g0266 a0001c0020t0156g0192 a0001c0020t0157g0194 a0001c0024t0177g0024 a0001c0026t0119g0275 a0001c0032t0116g0199 a0001c0033t0047g0269 a0001c0037t0046g0267 a0002c0003t0002g0097 a0002c0003t0002g0098 a0002c0003t0002g0101 a0002c0003t0002g0222 a0002c0003t0002g0238 a0002c0003t0002g0245 a0002c0003t0002g0263 a0002c0003t0003g0087 a0002c0003t0003g0205 a0002c0003t0003g0221 a0002c0003t0003g0225 a0002c0003t0003g0251 a0002c0003t0003g0253 a0002c0003t0003g0288 a0002c0003t0004g0265 a0002c0003t0017g0115 a0002c0003t0019g0152 a0002c0003t0019g0153 a0002c0003t0022g0219 a0002c0003t0022g0234 a0002c0003t0043g0282 a0002c0003t0053g0118 a0002c0003t0054g0154 a0002c0003t0057g0114 a0002c0003t0058g0167 a0002c0003t0060g0151 a0002c0003t0087g0239 a0002c0003t0088g0206 a0002c0003t0089g0247 a0002c0003t0091g0231 a0002c0003t0092g0220 a0002c0003t0093g0241 a0002c0003t0095g0230 a0002c0003t0096g0229 a0002c0003t0098g0224 a0002c0003t0099g0250 a0002c0003t0102g0218 a0002c0003t0103g0249 a0002c0003t0110g0174 a0002c0003t0155g0100 a0002c0007t0014g0020 a0002c0007t0034g0063 a0002c0007t0034g0066 a0002c0007t0169g0078 a0002c0007t0183g0068 a0002c0007t0207g0017 a0002c0014t0006g0005 a0002c0014t0006g0226 a0002c0022t0018g0146 a0002c0022t0018g0147 a0002c0027t0214g0027 a0002c0028t0179g0016 a0002c0036t0097g0244 a0004c0011t0125g0279 a0004c0011t0127g0281 a0004c0011t0128g0280 a0008c0029t0209g0026 a0010c0039t0094g0102	174	296	0.5878	0	c.307 others(6): Show c.3073-8T>C		BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	17/22					chr22	TogoVar
BCR_chr22_23175509_23323037	23311693	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(145): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG02004.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18997.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0010	a0001c0001 a0001c0002 a0001c0004 others(22): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0017 a0001c0018 a0001c0020 a0001c0024 a0001c0026 a0001c0032 a0001c0033 a0001c0037 a0002c0003 a0002c0007 a0002c0014 a0002c0022 a0002c0028 a0002c0036 a0008c0029 a0010c0039	a0001c0001t0004 a0001c0001t0011 a0001c0001t0017 others(106): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0017 a0001c0001t0055 a0001c0001t0056 a0001c0001t0059 a0001c0001t0082 a0001c0001t0100 a0001c0001t0101 a0001c0001t0104 a0001c0001t0120 a0001c0001t0159 a0001c0002t0004 a0001c0002t0011 a0001c0002t0016 a0001c0002t0033 a0001c0002t0045 a0001c0002t0052 a0001c0002t0083 a0001c0002t0108 a0001c0002t0111 a0001c0002t0112 a0001c0002t0113 a0001c0002t0117 a0001c0002t0153 a0001c0002t0158 a0001c0002t0206 a0001c0002t0218 a0001c0004t0014 a0001c0004t0035 a0001c0004t0036 a0001c0004t0109 a0001c0004t0166 a0001c0004t0167 a0001c0004t0168 a0001c0004t0170 a0001c0004t0174 a0001c0004t0178 a0001c0004t0200 a0001c0004t0208 a0001c0004t0210 a0001c0005t0014 a0001c0005t0037 a0001c0005t0038 a0001c0005t0105 a0001c0005t0106 a0001c0005t0107 a0001c0005t0171 a0001c0005t0172 a0001c0005t0173 a0001c0005t0175 a0001c0005t0176 a0001c0006t0001 a0001c0006t0061 a0001c0006t0084 a0001c0009t0039 a0001c0009t0115 a0001c0009t0211 a0001c0010t0010 a0001c0010t0118 a0001c0012t0012 a0001c0013t0011 a0001c0013t0090 a0001c0017t0006 a0001c0017t0114 a0001c0018t0044 a0001c0020t0156 a0001c0020t0157 a0001c0024t0177 a0001c0026t0119 a0001c0032t0116 a0001c0033t0047 a0001c0037t0046 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0017 a0002c0003t0019 a0002c0003t0022 a0002c0003t0043 a0002c0003t0053 a0002c0003t0054 a0002c0003t0057 a0002c0003t0058 a0002c0003t0060 a0002c0003t0087 a0002c0003t0088 a0002c0003t0089 a0002c0003t0091 a0002c0003t0092 a0002c0003t0093 a0002c0003t0095 a0002c0003t0096 a0002c0003t0098 a0002c0003t0099 a0002c0003t0102 a0002c0003t0103 a0002c0003t0110 a0002c0003t0155 a0002c0007t0014 a0002c0007t0034 a0002c0007t0169 a0002c0007t0207 a0002c0014t0006 a0002c0022t0018 a0002c0028t0179 a0002c0036t0097 a0008c0029t0209 a0010c0039t0094	a0001c0001t0004g0240 a0001c0001t0011g0223 a0001c0001t0017g0200 others(143): Show a0001c0001t0004g0240 a0001c0001t0011g0223 a0001c0001t0017g0200 a0001c0001t0055g0003 a0001c0001t0056g0003 a0001c0001t0059g0166 a0001c0001t0082g0124 a0001c0001t0100g0188 a0001c0001t0101g0189 a0001c0001t0104g0184 a0001c0001t0120g0252 a0001c0001t0159g0287 a0001c0002t0004g0227 a0001c0002t0004g0261 a0001c0002t0004g0262 a0001c0002t0011g0242 a0001c0002t0016g0195 a0001c0002t0016g0196 a0001c0002t0033g0132 a0001c0002t0033g0283 a0001c0002t0045g0270 a0001c0002t0052g0155 a0001c0002t0083g0119 a0001c0002t0108g0290 a0001c0002t0111g0236 a0001c0002t0112g0254 a0001c0002t0113g0212 a0001c0002t0117g0291 a0001c0002t0153g0197 a0001c0002t0158g0286 a0001c0002t0206g0177 a0001c0002t0218g0203 a0001c0004t0014g0043 a0001c0004t0035g0019 a0001c0004t0035g0041 a0001c0004t0036g0072 a0001c0004t0036g0073 a0001c0004t0109g0273 a0001c0004t0166g0032 a0001c0004t0167g0042 a0001c0004t0168g0037 a0001c0004t0170g0053 a0001c0004t0174g0015 a0001c0004t0178g0028 a0001c0004t0200g0065 a0001c0004t0208g0077 a0001c0004t0210g0018 a0001c0005t0014g0038 a0001c0005t0037g0039 a0001c0005t0037g0040 a0001c0005t0038g0030 a0001c0005t0038g0060 a0001c0005t0105g0092 a0001c0005t0106g0095 a0001c0005t0107g0274 a0001c0005t0171g0036 a0001c0005t0172g0044 a0001c0005t0173g0045 a0001c0005t0175g0011 a0001c0005t0176g0008 a0001c0006t0001g0145 a0001c0006t0001g0149 a0001c0006t0001g0156 a0001c0006t0001g0158 a0001c0006t0001g0159 a0001c0006t0001g0161 a0001c0006t0001g0163 a0001c0006t0001g0165 a0001c0006t0001g0190 a0001c0006t0061g0162 a0001c0006t0084g0120 a0001c0009t0039g0055 a0001c0009t0039g0056 a0001c0009t0115g0272 a0001c0009t0211g0059 a0001c0010t0010g0002 a0001c0010t0010g0103 a0001c0010t0118g0201 a0001c0012t0012g0089 a0001c0012t0012g0090 a0001c0012t0012g0093 a0001c0013t0011g0169 a0001c0013t0090g0187 a0001c0017t0006g0170 a0001c0017t0114g0172 a0001c0018t0044g0266 a0001c0020t0156g0192 a0001c0020t0157g0194 a0001c0024t0177g0024 a0001c0026t0119g0275 a0001c0032t0116g0199 a0001c0033t0047g0269 a0001c0037t0046g0267 a0002c0003t0002g0097 a0002c0003t0002g0098 a0002c0003t0002g0101 a0002c0003t0002g0222 a0002c0003t0002g0238 a0002c0003t0002g0245 a0002c0003t0002g0263 a0002c0003t0003g0087 a0002c0003t0003g0205 a0002c0003t0003g0221 a0002c0003t0003g0225 a0002c0003t0003g0251 a0002c0003t0003g0253 a0002c0003t0003g0288 a0002c0003t0004g0265 a0002c0003t0017g0115 a0002c0003t0019g0152 a0002c0003t0019g0153 a0002c0003t0022g0219 a0002c0003t0022g0234 a0002c0003t0043g0282 a0002c0003t0053g0118 a0002c0003t0054g0154 a0002c0003t0057g0114 a0002c0003t0058g0167 a0002c0003t0060g0151 a0002c0003t0087g0239 a0002c0003t0088g0206 a0002c0003t0089g0247 a0002c0003t0091g0231 a0002c0003t0092g0220 a0002c0003t0093g0241 a0002c0003t0095g0230 a0002c0003t0096g0229 a0002c0003t0098g0224 a0002c0003t0099g0250 a0002c0003t0102g0218 a0002c0003t0103g0249 a0002c0003t0110g0174 a0002c0003t0155g0100 a0002c0007t0014g0020 a0002c0007t0034g0063 a0002c0007t0034g0066 a0002c0007t0169g0078 a0002c0007t0207g0017 a0002c0014t0006g0005 a0002c0014t0006g0226 a0002c0022t0018g0146 a0002c0022t0018g0147 a0002c0028t0179g0016 a0002c0036t0097g0244 a0008c0029t0209g0026 a0010c0039t0094g0102	148	296	0.5000	0	c.318 others(6): Show c.3183-4G>A		BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	18/22					chr22	TogoVar
BCR_chr22_23175509_23323037	23313961	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00735.hp1 HG01070.hp2 others(24): Show HG00099.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01109.hp1 HG01255.hp2 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01934.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03471.hp1 HG03579.hp1 NA19240.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0001c0009 a0001c0010 others(5): Show a0001c0006 a0001c0009 a0001c0010 a0001c0012 a0001c0017 a0001c0026 a0001c0033 a0002c0014	a0001c0006t0001 a0001c0006t0061 a0001c0006t0084 others(9): Show a0001c0006t0001 a0001c0006t0061 a0001c0006t0084 a0001c0009t0039 a0001c0009t0211 a0001c0010t0010 a0001c0010t0118 a0001c0012t0012 a0001c0017t0006 a0001c0026t0119 a0001c0033t0047 a0002c0014t0006	a0001c0006t0001g0145 a0001c0006t0001g0149 a0001c0006t0001g0156 others(22): Show a0001c0006t0001g0145 a0001c0006t0001g0149 a0001c0006t0001g0156 a0001c0006t0001g0158 a0001c0006t0001g0159 a0001c0006t0001g0161 a0001c0006t0001g0163 a0001c0006t0001g0165 a0001c0006t0001g0190 a0001c0006t0061g0162 a0001c0006t0084g0120 a0001c0009t0039g0055 a0001c0009t0039g0056 a0001c0009t0211g0059 a0001c0010t0010g0002 a0001c0010t0010g0103 a0001c0010t0118g0201 a0001c0012t0012g0089 a0001c0012t0012g0090 a0001c0012t0012g0093 a0001c0017t0006g0170 a0001c0026t0119g0275 a0001c0033t0047g0269 a0002c0014t0006g0005 a0002c0014t0006g0226	27	296	0.0912	0	c.345 others(6): Show c.3458-7T>G		BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	20/22					chr22	TogoVar
BCR_chr22_23175509_23323037	23315426	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00673.hp1 HG01123.hp2 HG01192.hp1 others(5): Show HG00673.hp1 HG01123.hp2 HG01192.hp1 HG01993.hp2 HG02004.hp2 HG02273.hp1 HG02300.hp2 NA19066.hp1	a0003 a0009 a0003 a0009	a0003c0008 a0003c0031 a0003c0034 others(1): Show a0003c0008 a0003c0031 a0003c0034 a0009c0025	a0003c0008t0005 a0003c0031t0129 a0003c0034t0130 others(1): Show a0003c0008t0005 a0003c0031t0129 a0003c0034t0130 a0009c0025t0190	a0003c0008t0005g0079 a0003c0008t0005g0082 a0003c0008t0005g0083 others(5): Show a0003c0008t0005g0079 a0003c0008t0005g0082 a0003c0008t0005g0083 a0003c0008t0005g0085 a0003c0008t0005g0086 a0003c0031t0129g0277 a0003c0034t0130g0232 a0009c0025t0190g0080	8	296	0.0270	0	c.372 others(6): Show c.3727-7C>T		BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	22/22					chr22	TogoVar
BDH1_chr3_197504783_197560968	197514415	G G	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00733.hp1 HG01069.hp2 HG01071.hp2 others(20): Show HG00733.hp1 HG01069.hp2 HG01071.hp2 HG01256.hp1 HG01258.hp2 HG01884.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02965.hp2 HG03130.hp2 HG03669.hp2 HG04199.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0011 a0001c0002 a0001c0003 a0001c0011	a0001c0002t0041 a0001c0002t0046 a0001c0002t0047 others(19): Show a0001c0002t0041 a0001c0002t0046 a0001c0002t0047 a0001c0002t0048 a0001c0002t0050 a0001c0002t0051 a0001c0002t0060 a0001c0002t0065 a0001c0002t0072 a0001c0002t0073 a0001c0002t0074 a0001c0002t0075 a0001c0002t0096 a0001c0002t0158 a0001c0002t0161 a0001c0002t0218 a0001c0003t0010 a0001c0003t0042 a0001c0003t0063 a0001c0003t0066 a0001c0003t0071 a0001c0011t0056	a0001c0002t0041g0013 a0001c0002t0046g0012 a0001c0002t0047g0010 others(19): Show a0001c0002t0041g0013 a0001c0002t0046g0012 a0001c0002t0047g0010 a0001c0002t0048g0011 a0001c0002t0050g0015 a0001c0002t0051g0016 a0001c0002t0060g0037 a0001c0002t0065g0221 a0001c0002t0072g0298 a0001c0002t0073g0299 a0001c0002t0074g0300 a0001c0002t0075g0297 a0001c0002t0096g0050 a0001c0002t0158g0278 a0001c0002t0161g0102 a0001c0002t0218g0098 a0001c0003t0010g0001 a0001c0003t0042g0020 a0001c0003t0063g0066 a0001c0003t0066g0067 a0001c0003t0071g0069 a0001c0011t0056g0099	23	319	0.0721	0	c.411 others(3): Show c.411C>G	p.Gly others(6): Show p.Gly137Gly	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	7/8	794/3527	411/1032	137/343		chr3	TogoVar
BDH2_chr4_103072592_103104834	103095204	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0018 a0001c0009t0018	a0001c0009t0018g0105 a0001c0009t0018g0105	1	382	0.0026	0	c.150 others(3): Show c.150G>A	p.Pro others(5): Show p.Pro50Pro	BDH2	ENSG00000164039.15	transcript	ENST00000296424.9	protein_coding	3/10	222/2920	150/738	50/245		chr4	TogoVar
BDKRB1_chr14_96251210_96269763	96262624	TTTG TTTG	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG01106.hp2 HG01123.hp1 others(38): Show HG00140.hp2 HG01106.hp2 HG01123.hp1 HG01175.hp2 HG01952.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03834.hp1 NA18522.hp1 NA18522.hp2 NA18963.hp2 NA18969.hp2 NA18991.hp1 NA19030.hp1 NA19067.hp1 NA19081.hp2 NA19240.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0003c0005t0001	a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0017 others(14): Show a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0111 a0001c0002t0001g0065 a0001c0003t0001g0016 a0001c0003t0001g0026 a0001c0003t0001g0083 a0003c0005t0001g0026	41	444	0.0923	-3	c.-12 others(16): Show c.-129-9_-129-7delTTG		BDKRB1	ENSG00000100739.11	transcript	ENST00000216629.11	protein_coding	1/2				INFO_REALIGN_3_PRIME	chr14	TogoVar
BDKRB1_chr14_96251210_96269763	96262778	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG02155.hp1 HG00408.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	2	444	0.0045	0	c.-11 others(5): Show c.-11+8C>T		BDKRB1	ENSG00000100739.11	transcript	ENST00000216629.11	protein_coding	2/2					chr14	TogoVar
BDP1_chr5_71450651_71572820	71509450	CT CT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp1 HG00438.hp1 HG00609.hp1 others(69): Show HG00423.hp1 HG00438.hp1 HG00609.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01257.hp2 HG01261.hp1 HG01433.hp2 HG01496.hp2 HG01978.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp2 HG02148.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02602.hp2 HG02683.hp1 HG02735.hp1 HG02922.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp1 HG03453.hp2 HG03654.hp2 HG03688.hp1 HG03927.hp2 HG04204.hp1 NA18942.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18957.hp2 NA18959.hp2 NA18963.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19006.hp2 NA19030.hp2 NA19054.hp1 NA19063.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19080.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20805.hp2	a0002 a0010 a0013 others(10): Show a0002 a0010 a0013 a0015 a0016 a0020 a0022 a0025 a0027 a0029 a0030 a0041 a0042	a0002c0002 a0002c0039 a0002c0041 others(12): Show a0002c0002 a0002c0039 a0002c0041 a0010c0012 a0013c0013 a0015c0016 a0016c0014 a0020c0018 a0022c0019 a0025c0038 a0027c0037 a0029c0044 a0030c0036 a0041c0047 a0042c0052	a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 others(15): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0012 a0002c0039t0001 a0002c0041t0001 a0010c0012t0003 a0013c0013t0001 a0015c0016t0001 a0016c0014t0001 a0020c0018t0001 a0022c0019t0024 a0025c0038t0001 a0027c0037t0003 a0029c0044t0005 a0030c0036t0001 a0041c0047t0001 a0042c0052t0001	a0002c0002t0001g0135 a0002c0002t0001g0140 a0002c0002t0001g0142 others(68): Show a0002c0002t0001g0135 a0002c0002t0001g0140 a0002c0002t0001g0142 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0156 a0002c0002t0001g0158 a0002c0002t0001g0172 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0203 a0002c0002t0001g0210 a0002c0002t0001g0213 a0002c0002t0001g0216 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0003g0134 a0002c0002t0003g0161 a0002c0002t0003g0162 a0002c0002t0003g0169 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0177 a0002c0002t0003g0179 a0002c0002t0003g0188 a0002c0002t0003g0206 a0002c0002t0003g0212 a0002c0002t0005g0171 a0002c0002t0005g0178 a0002c0002t0005g0183 a0002c0002t0005g0189 a0002c0002t0005g0215 a0002c0002t0005g0300 a0002c0002t0012g0157 a0002c0039t0001g0207 a0002c0041t0001g0144 a0010c0012t0003g0148 a0010c0012t0003g0165 a0010c0012t0003g0166 a0010c0012t0003g0204 a0010c0012t0003g0209 a0013c0013t0001g0003 a0013c0013t0001g0133 a0013c0013t0001g0143 a0013c0013t0001g0217 a0015c0016t0001g0192 a0015c0016t0001g0193 a0016c0014t0001g0004 a0016c0014t0001g0005 a0020c0018t0001g0191 a0022c0019t0024g0118 a0025c0038t0001g0141 a0027c0037t0003g0205 a0029c0044t0005g0194 a0030c0036t0001g0149 a0041c0047t0001g0228 a0042c0052t0001g0226	72	325	0.2215	-1	c.237 others(7): Show c.2373-5delT		BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	16/38				INFO_REALIGN_3_PRIME	chr5	TogoVar
BECN1_chr17_42805134_42829282	42818223	A A	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02976.hp1 HG03540.hp1 HG06807.hp1 HG02976.hp1 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	3	274	0.0110	0	c.681 others(3): Show c.681T>A	p.Ala others(6): Show p.Ala227Ala	BECN1	ENSG00000126581.13	transcript	ENST00000590099.6	protein_coding	7/12	811/2109	681/1353	227/450		chr17	TogoVar
BEND7_chr10_13436088_13534014	13441756	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03704.hp1 NA18968.hp2 NA18997.hp2 others(1): Show HG03704.hp1 NA18968.hp2 NA18997.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0044 a0001c0001t0006g0046 a0001c0001t0006g0047 others(1): Show a0001c0001t0006g0044 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0048	4	300	0.0133	0	c.123 others(6): Show c.1235-6C>A		BEND7	ENSG00000165626.19	transcript	ENST00000466271.3	protein_coding	8/8					chr10	TogoVar
BEND7_chr10_13436088_13534014	13526226	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	300	0.0033	0	c.62- others(4): Show c.62-5G>A		BEND7	ENSG00000165626.19	transcript	ENST00000466271.3	protein_coding	1/8					chr10	TogoVar
BEST1_chr11_61945351_61969461	61955084	TCCACCC TCCACCC	T T	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01496.hp1 HG02109.hp1 HG02257.hp2 others(11): Show HG01496.hp1 HG02109.hp1 HG02257.hp2 HG02486.hp1 HG02622.hp2 HG02922.hp2 HG03139.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp2 NA19030.hp1 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0045 others(4): Show a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0045 a0001c0002t0001g0065 a0001c0002t0001g0113 a0001c0002t0001g0128 a0001c0002t0001g0129	14	410	0.0342	-6	c.153 others(17): Show c.153-7_153-2delCCCCCA		BEST1	ENSG00000167995.17	transcript	ENST00000378043.9	protein_coding	2/10				INFO_REALIGN_3_PRIME	chr11	TogoVar
BEST1_chr11_61945351_61969461	61958127	A A	ATCCTCCT others(2): Show ATCCTCCTCC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(393): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.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 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0020 a0002c0016 a0002c0025 a0003c0015 a0004c0022 a0005c0017 a0006c0019 a0007c0021 a0008c0018	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0001c0014t0001 a0001c0020t0001 a0002c0016t0001 a0002c0025t0001 a0003c0015t0001 a0004c0022t0001 a0005c0017t0001 a0006c0019t0001 a0007c0021t0001 a0008c0018t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(199): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0002g0015 a0001c0002t0001g0012 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0031 a0001c0002t0001g0045 a0001c0002t0001g0048 a0001c0002t0001g0065 a0001c0002t0001g0073 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0117 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0145 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0168 a0001c0003t0001g0003 a0001c0003t0001g0008 a0001c0003t0001g0016 a0001c0003t0001g0025 a0001c0003t0001g0034 a0001c0003t0001g0051 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0058 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0181 a0001c0003t0001g0196 a0001c0003t0001g0201 a0001c0003t0001g0202 a0001c0004t0001g0012 a0001c0004t0001g0013 a0001c0004t0001g0019 a0001c0004t0001g0020 a0001c0004t0001g0036 a0001c0004t0001g0061 a0001c0004t0001g0062 a0001c0004t0001g0064 a0001c0004t0001g0071 a0001c0004t0001g0079 a0001c0004t0001g0110 a0001c0004t0001g0111 a0001c0004t0001g0115 a0001c0004t0001g0116 a0001c0004t0001g0118 a0001c0004t0001g0122 a0001c0004t0001g0124 a0001c0004t0001g0127 a0001c0004t0001g0144 a0001c0004t0001g0146 a0001c0004t0001g0151 a0001c0004t0001g0154 a0001c0004t0001g0155 a0001c0004t0001g0156 a0001c0004t0001g0174 a0001c0004t0001g0180 a0001c0004t0001g0203 a0001c0004t0001g0204 a0001c0004t0003g0013 a0001c0004t0003g0120 a0001c0005t0001g0003 a0001c0005t0001g0025 a0001c0005t0001g0184 a0001c0005t0001g0185 a0001c0005t0001g0187 a0001c0005t0001g0192 a0001c0005t0001g0193 a0001c0005t0001g0198 a0001c0006t0001g0005 a0001c0006t0001g0037 a0001c0006t0001g0049 a0001c0006t0001g0059 a0001c0006t0001g0060 a0001c0006t0001g0108 a0001c0006t0001g0160 a0001c0007t0001g0009 a0001c0007t0001g0024 a0001c0007t0001g0186 a0001c0007t0001g0189 a0001c0007t0001g0190 a0001c0007t0001g0191 a0001c0008t0001g0007 a0001c0008t0001g0066 a0001c0008t0001g0067 a0001c0008t0001g0068 a0001c0009t0001g0035 a0001c0009t0001g0054 a0001c0009t0001g0188 a0001c0009t0001g0194 a0001c0009t0001g0197 a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0028 a0001c0010t0001g0134 a0001c0011t0001g0047 a0001c0011t0001g0082 a0001c0012t0001g0109 a0001c0012t0001g0119 a0001c0012t0001g0121 a0001c0013t0001g0167 a0001c0013t0001g0170 a0001c0013t0001g0172 a0001c0014t0001g0050 a0001c0014t0001g0169 a0001c0020t0001g0063 a0002c0016t0001g0057 a0002c0025t0001g0195 a0003c0015t0001g0142 a0003c0015t0001g0143 a0004c0022t0001g0173 a0005c0017t0001g0102 a0006c0019t0001g0017 a0007c0021t0001g0070 a0008c0018t0002g0069	396	410	0.9659	9	c.715 others(21): Show c.715-12_715-4dupTCCTCCTCC		BEST1	ENSG00000167995.17	transcript	ENST00000378043.9	protein_coding	6/10				INFO_REALIGN_3_PRIME	chr11	TogoVar
BEST2_chr19_12746791_12763458	12757645	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01433.hp2 HG01433.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0047 a0009c0013t0001g0047	1	390	0.0026	0	c.110 others(6): Show c.1104-6C>T		BEST2	ENSG00000039987.7	transcript	ENST00000553030.6	protein_coding	9/9					chr19	TogoVar
BEST4_chr1_44778585_44793170	44786233	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	390	0.0026	0	c.482 others(5): Show c.482-5C>T		BEST4	ENSG00000142959.5	transcript	ENST00000372207.4	protein_coding	3/8					chr1	TogoVar
BEX5_chrX_102148712_102160977	102155850	G G	GC GC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(320): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0020 a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0015 a0001c0001t0004g0024 a0001c0001t0005g0023	323	324	0.9969	1	c.-10 others(7): Show c.-105+8dupG		BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding	1/2					chrX	TogoVar
BFAR_chr16_14627951_14674236	14655059	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	317	0.0032	0	c.639 others(5): Show c.639-7T>A		BFAR	ENSG00000103429.11	transcript	ENST00000261658.7	protein_coding	4/7					chr16	TogoVar
BFSP2_chr3_133395056_133480208	133450296	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18956.hp2 NA18972.hp2 NA19085.hp1 NA18956.hp2 NA18972.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0134 a0001c0001t0001g0244 a0001c0001t0001g0245	3	276	0.0109	0	c.730 others(5): Show c.730-7T>C		BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	3/6					chr3	TogoVar
BGN_chrX_153489980_153514546	153505226	TG TG	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02683.hp2 NA19003.hp1 HG02683.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0032 a0001c0001t0001 a0001c0002t0032	a0001c0001t0001g0178 a0001c0002t0032g0130 a0001c0001t0001g0178 a0001c0002t0032g0130	2	321	0.0062	-1	c.239 others(6): Show c.239-8delG		BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding	2/7				INFO_REALIGN_3_PRIME	chrX	TogoVar
BGN_chrX_153489980_153514546	153506075	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01109.hp1 HG01243.hp1 HG01884.hp2 others(21): Show HG01109.hp1 HG01243.hp1 HG01884.hp2 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02622.hp1 HG03486.hp1 NA18945.hp1 NA18951.hp2 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18983.hp1 NA18984.hp1 NA19001.hp1 NA19009.hp1 NA19011.hp2 NA19062.hp1 NA19065.hp1 NA19082.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0002c0007 a0001c0004 a0001c0006 a0002c0007	a0001c0004t0002 a0001c0004t0008 a0001c0004t0014 others(10): Show a0001c0004t0002 a0001c0004t0008 a0001c0004t0014 a0001c0004t0027 a0001c0004t0028 a0001c0004t0031 a0001c0004t0064 a0001c0004t0080 a0001c0004t0082 a0001c0004t0089 a0001c0006t0025 a0001c0006t0052 a0002c0007t0008	a0001c0004t0002g0153 a0001c0004t0008g0019 a0001c0004t0008g0036 others(19): Show a0001c0004t0002g0153 a0001c0004t0008g0019 a0001c0004t0008g0036 a0001c0004t0008g0071 a0001c0004t0008g0125 a0001c0004t0014g0015 a0001c0004t0014g0027 a0001c0004t0014g0078 a0001c0004t0014g0094 a0001c0004t0014g0098 a0001c0004t0027g0154 a0001c0004t0027g0155 a0001c0004t0028g0036 a0001c0004t0031g0199 a0001c0004t0064g0035 a0001c0004t0080g0015 a0001c0004t0082g0027 a0001c0004t0089g0048 a0001c0006t0025g0025 a0001c0006t0025g0188 a0001c0006t0052g0025 a0002c0007t0008g0019	24	321	0.0748	0	c.564 others(3): Show c.564C>T	p.Ile others(6): Show p.Ile188Ile	BGN	ENSG00000182492.16	transcript	ENST00000331595.9	protein_coding	4/8	709/2353	564/1107	188/368		chrX	TogoVar
BICC1_chr10_58507872_58836435	58796530	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0082 a0002c0002t0011g0082	1	132	0.0076	0	c.136 others(6): Show c.1366+4T>C		BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	10/20					chr10	TogoVar
BICC1_chr10_58507872_58836435	58803069	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18906.hp2 NA20129.hp2 NA18906.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0018 a0002c0008t0045 a0002c0002t0018 a0002c0008t0045	a0002c0002t0018g0124 a0002c0008t0045g0118 a0002c0002t0018g0124 a0002c0008t0045g0118	2	132	0.0152	0	c.201 others(6): Show c.2016-8T>C		BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	14/20					chr10	TogoVar
BICC1_chr10_58507872_58836435	58813993	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00323.hp2 HG00558.hp2 others(87): Show HG00323.hp1 HG00323.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp2 HG01358.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01981.hp1 HG02027.hp2 HG02040.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18961.hp1 NA18965.hp1 NA18965.hp2 NA18972.hp2 NA18986.hp2 NA19060.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0002c0002 a0002c0003 others(7): Show a0001c0001 a0002c0002 a0002c0003 a0002c0006 a0002c0008 a0003c0004 a0003c0007 a0004c0005 a0005c0009 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0038 a0001c0001t0040 a0001c0001t0042 a0001c0001t0046 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0002c0002t0018 a0002c0003t0004 a0002c0003t0009 a0002c0003t0015 a0002c0003t0016 a0002c0003t0019 a0002c0003t0023 a0002c0003t0026 a0002c0003t0032 a0002c0003t0037 a0002c0003t0043 a0002c0006t0039 a0002c0008t0045 a0003c0004t0014 a0003c0004t0025 a0003c0004t0035 a0003c0004t0044 a0003c0004t0047 a0003c0007t0033 a0004c0005t0004 a0004c0005t0030 a0004c0005t0034 a0004c0005t0053 a0005c0009t0031 a0006c0010t0003	a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0075 others(87): Show a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0034 a0001c0001t0002g0041 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0064 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0019 a0001c0001t0003g0024 a0001c0001t0003g0059 a0001c0001t0003g0063 a0001c0001t0005g0007 a0001c0001t0005g0014 a0001c0001t0006g0079 a0001c0001t0006g0085 a0001c0001t0006g0099 a0001c0001t0006g0105 a0001c0001t0007g0071 a0001c0001t0007g0080 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0007g0106 a0001c0001t0007g0122 a0001c0001t0011g0070 a0001c0001t0011g0077 a0001c0001t0012g0004 a0001c0001t0012g0029 a0001c0001t0012g0058 a0001c0001t0021g0045 a0001c0001t0022g0001 a0001c0001t0024g0022 a0001c0001t0027g0042 a0001c0001t0028g0048 a0001c0001t0029g0032 a0001c0001t0038g0113 a0001c0001t0040g0126 a0001c0001t0042g0130 a0001c0001t0046g0090 a0001c0001t0048g0086 a0001c0001t0049g0076 a0001c0001t0051g0098 a0002c0002t0018g0124 a0002c0002t0018g0131 a0002c0003t0004g0052 a0002c0003t0009g0104 a0002c0003t0009g0117 a0002c0003t0015g0010 a0002c0003t0015g0018 a0002c0003t0016g0061 a0002c0003t0016g0062 a0002c0003t0019g0115 a0002c0003t0019g0116 a0002c0003t0023g0023 a0002c0003t0026g0047 a0002c0003t0032g0049 a0002c0003t0037g0111 a0002c0003t0043g0114 a0002c0006t0039g0110 a0002c0008t0045g0118 a0003c0004t0014g0066 a0003c0004t0014g0067 a0003c0004t0025g0021 a0003c0004t0035g0044 a0003c0004t0044g0112 a0003c0004t0047g0120 a0003c0007t0033g0046 a0004c0005t0004g0025 a0004c0005t0030g0009 a0004c0005t0034g0053 a0004c0005t0053g0092 a0005c0009t0031g0012 a0006c0010t0003g0065	90	132	0.6818	0	c.253 others(6): Show c.2533+7G>T		BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	18/20					chr10	TogoVar
BICD2_chr9_92706363_92769833	92711363	T T	A A	splice_region_variant splice_region_variant	LOW	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0210 a0001c0001t0025g0210	1	360	0.0028	0	c.37 others(5): Show c.3791A>T		BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding	7/7					chr9	TogoVar
BICD2_chr9_92706363_92769833	92764497	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	360	0.0028	0	c.240 others(5): Show c.240+8G>T		BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding	1/6					chr9	TogoVar
BICRA_chr19_47604134_47708277	47681969	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03225.hp2 HG03834.hp1 HG03225.hp2 HG03834.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0002 a0003c0004t0004 a0002c0002t0002 a0003c0004t0004	a0002c0002t0002g0223 a0003c0004t0004g0040 a0002c0002t0002g0223 a0003c0004t0004g0040	2	312	0.0064	0	c.210 others(6): Show c.2107-7G>A		BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	6/14					chr19	TogoVar
BIN1_chr2_127043032_127112154	127054019	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	344	0.0029	0	c.113 others(6): Show c.1132-7T>C		BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	12/18					chr2	TogoVar
BIN1_chr2_127043032_127112154	127059160	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	344	0.0029	0	c.858 others(5): Show c.858-5C>T		BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	10/18					chr2	TogoVar
BIN1_chr2_127043032_127112154	127062201	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG01346.hp1 others(18): Show HG00140.hp1 HG00140.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01515.hp2 HG02559.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG03017.hp1 HG03041.hp1 HG03471.hp1 HG03669.hp2 HG03834.hp2 HG04184.hp2 HG04199.hp1 NA18948.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0017 others(1): Show a0001c0001 a0001c0002 a0001c0017 a0001c0018	a0001c0001t0001 a0001c0002t0001 a0001c0017t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0017t0001 a0001c0018t0001	a0001c0001t0001g0016 a0001c0001t0001g0059 a0001c0001t0001g0078 others(16): Show a0001c0001t0001g0016 a0001c0001t0001g0059 a0001c0001t0001g0078 a0001c0001t0001g0099 a0001c0001t0001g0124 a0001c0001t0001g0174 a0001c0001t0001g0180 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0002t0001g0015 a0001c0002t0001g0194 a0001c0017t0001g0186 a0001c0018t0001g0228	21	344	0.0611	0	c.775 others(5): Show c.775-4G>A		BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	9/18					chr2	TogoVar
BIN1_chr2_127043032_127112154	127070814	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0312 a0001c0010t0002g0312	1	344	0.0029	0	c.168 others(3): Show c.168G>A	p.Thr others(5): Show p.Thr56Thr	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	3/19	379/2487	168/1782	56/593		chr2	TogoVar
BIN3_chr8_22615418_22674121	22620417	G G	GT GT	splice_region_variant splice_region_variant	LOW	HG01192.hp1 HG02040.hp2 HG02145.hp1 others(25): Show HG01192.hp1 HG02040.hp2 HG02145.hp1 HG02148.hp2 HG02486.hp1 HG02486.hp2 HG02647.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp2 HG02897.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 NA18906.hp1 NA18943.hp2 NA18954.hp2 NA18977.hp1 NA18977.hp2 NA18986.hp1 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0015 a0001c0002t0003 others(1): Show a0001c0001t0003 a0001c0001t0015 a0001c0002t0003 a0001c0003t0003	a0001c0001t0003g0121 a0001c0001t0015g0225 a0001c0001t0015g0311 others(23): Show a0001c0001t0003g0121 a0001c0001t0015g0225 a0001c0001t0015g0311 a0001c0002t0003g0004 a0001c0002t0003g0017 a0001c0002t0003g0139 a0001c0002t0003g0175 a0001c0002t0003g0189 a0001c0002t0003g0199 a0001c0002t0003g0220 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0251 a0001c0002t0003g0252 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0003g0260 a0001c0002t0003g0262 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0267 a0001c0002t0003g0269 a0001c0003t0003g0350	28	386	0.0725	1	c.10 others(6): Show c.1004dupA		BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding	9/9					chr8	TogoVar
BIN3_chr8_22615418_22674121	22620417	G G	GTT GTT	splice_region_variant splice_region_variant	LOW	HG00741.hp2 HG02056.hp1 HG02970.hp2 others(12): Show HG00741.hp2 HG02056.hp1 HG02970.hp2 HG03579.hp2 NA18522.hp1 NA18951.hp1 NA18956.hp1 NA18959.hp2 NA18970.hp2 NA18971.hp2 NA18974.hp2 NA18993.hp2 NA18998.hp1 NA19010.hp2 NA19078.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0006 a0001c0001t0012 a0001c0001t0027 others(2): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0027 a0001c0002t0012 a0004c0006t0006	a0001c0001t0006g0306 a0001c0001t0006g0307 a0001c0001t0006g0308 others(12): Show a0001c0001t0006g0306 a0001c0001t0006g0307 a0001c0001t0006g0308 a0001c0001t0006g0309 a0001c0001t0006g0312 a0001c0001t0006g0313 a0001c0001t0006g0316 a0001c0001t0006g0317 a0001c0001t0006g0318 a0001c0001t0012g0063 a0001c0001t0012g0129 a0001c0001t0027g0127 a0001c0002t0012g0004 a0001c0002t0012g0248 a0004c0006t0006g0315	15	386	0.0389	2	c.10 others(13): Show c.1003_*1004dupAA		BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding	9/9					chr8	TogoVar
BIN3_chr8_22615418_22674121	22620417	G G	GTTT GTTT	splice_region_variant splice_region_variant	LOW	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(82): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00639.hp1 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01361.hp2 HG01517.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG02040.hp1 HG02080.hp2 HG02135.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02886.hp1 HG02896.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18954.hp1 NA18955.hp1 NA18965.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18985.hp2 NA18987.hp2 NA18990.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19067.hp1 NA19074.hp2 NA19080.hp2 NA19083.hp2 NA19087.hp2 NA19090.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0016 others(4): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0016 a0001c0001t0026 a0001c0001t0028 a0001c0001t0033 a0001c0001t0037	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(79): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0141 a0001c0001t0002g0242 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0011g0305 a0001c0001t0011g0310 a0001c0001t0011g0314 a0001c0001t0011g0319 a0001c0001t0016g0126 a0001c0001t0016g0128 a0001c0001t0026g0125 a0001c0001t0028g0071 a0001c0001t0033g0028 a0001c0001t0037g0080	85	386	0.2202	3	c.10 others(14): Show c.1002_*1004dupAAA		BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding	9/9					chr8	TogoVar
BIN3_chr8_22615418_22674121	22620417	G G	GTTTT GTTTT	splice_region_variant splice_region_variant	LOW	HG00597.hp1 HG02572.hp2 HG02738.hp1 others(10): Show HG00597.hp1 HG02572.hp2 HG02738.hp1 HG02738.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18994.hp1 NA19001.hp2 NA19054.hp2 NA19068.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0035 a0001c0001t0005 a0001c0001t0035	a0001c0001t0005g0007 a0001c0001t0005g0023 a0001c0001t0005g0036 others(10): Show a0001c0001t0005g0007 a0001c0001t0005g0023 a0001c0001t0005g0036 a0001c0001t0005g0048 a0001c0001t0005g0060 a0001c0001t0005g0076 a0001c0001t0005g0085 a0001c0001t0005g0094 a0001c0001t0005g0096 a0001c0001t0005g0098 a0001c0001t0005g0241 a0001c0001t0005g0331 a0001c0001t0035g0062	13	386	0.0337	4	c.10 others(15): Show c.1001_*1004dupAAAA		BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding	9/9					chr8	TogoVar
BIN3_chr8_22615418_22674121	22620417	GTT GTT	G G	splice_region_variant splice_region_variant	LOW	HG00733.hp2 HG00738.hp2 HG01192.hp2 others(16): Show HG00733.hp2 HG00738.hp2 HG01192.hp2 HG02004.hp2 HG02055.hp1 HG02559.hp1 HG02572.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02976.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA19030.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 others(4): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022	a0001c0001t0008g0016 a0001c0001t0008g0226 a0001c0001t0008g0227 others(14): Show a0001c0001t0008g0016 a0001c0001t0008g0226 a0001c0001t0008g0227 a0001c0001t0008g0229 a0001c0001t0008g0230 a0001c0001t0008g0302 a0001c0001t0010g0102 a0001c0001t0010g0103 a0001c0001t0010g0104 a0001c0001t0010g0105 a0001c0001t0013g0018 a0001c0001t0014g0239 a0001c0001t0014g0249 a0001c0001t0017g0276 a0001c0001t0017g0277 a0001c0001t0019g0244 a0001c0001t0022g0130	19	386	0.0492	-2	c.10 others(13): Show c.1003_*1004delAA		BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding	9/9					chr8	TogoVar
BIN3_chr8_22615418_22674121	22620417	GTTT GTTT	G G	splice_region_variant splice_region_variant	LOW	HG00323.hp1 HG00621.hp2 HG00735.hp2 others(21): Show HG00323.hp1 HG00621.hp2 HG00735.hp2 HG01099.hp2 HG01256.hp1 HG01891.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03942.hp1 NA19030.hp2 NA19043.hp2 NA20300.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0009 a0001c0011 others(1): Show a0001c0001 a0001c0009 a0001c0011 a0003c0010	a0001c0001t0004 a0001c0001t0007 a0001c0001t0020 others(4): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0020 a0001c0001t0023 a0001c0009t0004 a0001c0011t0004 a0003c0010t0025	a0001c0001t0004g0014 a0001c0001t0004g0208 a0001c0001t0004g0209 others(20): Show a0001c0001t0004g0014 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0223 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0296 a0001c0001t0004g0301 a0001c0001t0007g0292 a0001c0001t0007g0321 a0001c0001t0007g0322 a0001c0001t0007g0323 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0007g0326 a0001c0001t0007g0327 a0001c0001t0020g0298 a0001c0001t0023g0297 a0001c0009t0004g0222 a0001c0011t0004g0295 a0003c0010t0025g0224	24	386	0.0622	-3	c.10 others(14): Show c.1002_*1004delAAA		BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding	9/9					chr8	TogoVar
BIN3_chr8_22615418_22674121	22620418	T T	G G	splice_region_variant splice_region_variant	LOW	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0228 a0001c0001t0021g0228	1	386	0.0026	0	c.10 others(5): Show c.1004A>C		BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding	9/9					chr8	TogoVar
BIN3_chr8_22615418_22674121	22620419	T T	G G	splice_region_variant splice_region_variant	LOW	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0228 a0001c0001t0021g0228	1	386	0.0026	0	c.10 others(5): Show c.1003A>C		BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding	9/9					chr8	TogoVar
BIN3_chr8_22615418_22674121	22621574	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp2 HG00738.hp2 HG01192.hp2 others(13): Show HG00733.hp2 HG00738.hp2 HG01192.hp2 HG02004.hp2 HG02055.hp1 HG02559.hp1 HG02572.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02976.hp2 HG03098.hp1 HG03579.hp1 HG06807.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 others(4): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022	a0001c0001t0008g0016 a0001c0001t0008g0226 a0001c0001t0008g0227 others(12): Show a0001c0001t0008g0016 a0001c0001t0008g0226 a0001c0001t0008g0227 a0001c0001t0008g0229 a0001c0001t0008g0230 a0001c0001t0008g0302 a0001c0001t0010g0102 a0001c0001t0010g0103 a0001c0001t0010g0104 a0001c0001t0010g0105 a0001c0001t0014g0239 a0001c0001t0018g0101 a0001c0001t0019g0244 a0001c0001t0021g0228 a0001c0001t0022g0130	16	386	0.0415	0	c.616 others(5): Show c.616-6C>T		BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding	8/8					chr8	TogoVar
BIN3_chr8_22615418_22674121	22630437	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp2 HG00738.hp2 HG02004.hp2 others(5): Show HG00733.hp2 HG00738.hp2 HG02004.hp2 HG02055.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0021 a0001c0001t0008 a0001c0001t0021	a0001c0001t0008g0016 a0001c0001t0008g0226 a0001c0001t0008g0227 others(4): Show a0001c0001t0008g0016 a0001c0001t0008g0226 a0001c0001t0008g0227 a0001c0001t0008g0229 a0001c0001t0008g0230 a0001c0001t0008g0302 a0001c0001t0021g0228	8	386	0.0207	0	c.297 others(5): Show c.297+5C>T		BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding	5/8					chr8	TogoVar
BIN3_chr8_22615418_22674121	22669046	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00280.hp2 HG00735.hp1 HG00738.hp1 others(23): Show HG00280.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG02148.hp2 HG02257.hp1 HG02683.hp2 HG03017.hp1 NA18947.hp1 NA19083.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0012 a0001c0003 a0001c0004 a0001c0012	a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 others(1): Show a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0012t0034	a0001c0003t0001g0333 a0001c0003t0001g0334 a0001c0003t0001g0335 others(22): Show a0001c0003t0001g0333 a0001c0003t0001g0334 a0001c0003t0001g0335 a0001c0003t0001g0337 a0001c0003t0001g0339 a0001c0003t0001g0340 a0001c0003t0001g0341 a0001c0003t0001g0342 a0001c0003t0001g0343 a0001c0003t0001g0344 a0001c0003t0001g0345 a0001c0003t0001g0347 a0001c0003t0001g0348 a0001c0003t0001g0349 a0001c0003t0001g0351 a0001c0003t0001g0353 a0001c0003t0001g0354 a0001c0003t0001g0355 a0001c0003t0001g0356 a0001c0003t0003g0350 a0001c0004t0001g0019 a0001c0004t0001g0338 a0001c0004t0001g0346 a0001c0004t0001g0352 a0001c0012t0034g0336	26	386	0.0674	0	c.6C> others(1): Show c.6C>T	p.Ser others(4): Show p.Ser2Ser	BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding	1/9	76/1836	6/762	2/253		chr8	TogoVar
BIRC3_chr11_102312484_102344403	102328890	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp2 HG02572.hp2 HG02258.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0051 a0001c0001t0016g0052 a0001c0001t0016g0051 a0001c0001t0016g0052	2	384	0.0052	0	c.103 others(6): Show c.1033-7T>C		BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding	4/8					chr11	TogoVar

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