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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
BCAM_chr19_44804103_44826421	44820701	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03130.hp1 NA18522.hp2 HG03130.hp1 NA18522.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0029 a0007c0011t0002g0029	2	410	0.0049	0	c.176 others(6): Show c.1764-4C>T		BCAM	ENSG00000187244.12	transcript	ENST00000270233.12	protein_coding	13/14					chr19	TogoVar
BCAP31_chrX_153695492_153729387	153720868	TCACCGAT others(1): Show TCACCGATG	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0135 a0002c0002t0001g0135	1	267	0.0038	-8	c.189 others(17): Show c.189_193+3delCATCGGTG	p.Ile others(4): Show p.Ile64fs	BCAP31	ENSG00000185825.17	transcript	ENST00000345046.12	protein_coding	3/8		189/741	63/246		chrX	TogoVar
BCAR1_chr16_75223181_75256624	75243088	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02818.hp1 NA21309.hp1 HG02818.hp1 NA21309.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0001 a0002c0020t0001	a0002c0020t0001g0044 a0002c0020t0001g0044	2	392	0.0051	0	c.15C others(2): Show c.15C>T	p.Asn others(4): Show p.Asn5Asn	BCAR1	ENSG00000050820.17	transcript	ENST00000162330.10	protein_coding	2/7	157/4085	15/2613	5/870		chr16	TogoVar
BCAR3_chr1_93556741_93686837	93571663	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	202	0.0050	0	c.197 others(6): Show c.1974+7T>G		BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding	9/11					chr1	TogoVar
BCAR3_chr1_93556741_93686837	93584019	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0064 a0002c0014t0001g0064	1	202	0.0050	0	c.103 others(4): Show c.1032T>C	p.Ile others(6): Show p.Ile344Ile	BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding	6/12	1283/3229	1032/2478	344/825		chr1	TogoVar
BCAS1_chr20_53938541_54075594	53957432	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00140.hp2 HG00597.hp1 HG00735.hp1 others(46): Show HG00140.hp2 HG00597.hp1 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01123.hp1 HG01167.hp1 HG02027.hp2 HG02040.hp1 HG02080.hp1 HG02132.hp1 HG02145.hp1 HG02257.hp2 HG02273.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG03041.hp2 HG03654.hp2 HG04204.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18952.hp2 NA18956.hp1 NA18960.hp2 NA18963.hp1 NA18967.hp2 NA18970.hp2 NA18986.hp1 NA18990.hp2 NA18992.hp2 NA18999.hp1 NA19003.hp1 NA19003.hp2 NA19006.hp1 NA19009.hp1 NA19012.hp1 NA19054.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19083.hp1 NA19086.hp2 NA19090.hp1 NA19091.hp1 NA20905.hp2	a0004 a0009 a0013 others(9): Show a0004 a0009 a0013 a0020 a0021 a0024 a0025 a0028 a0030 a0033 a0034 a0036	a0004c0004 a0009c0009 a0013c0013 others(9): Show a0004c0004 a0009c0009 a0013c0013 a0020c0023 a0021c0025 a0024c0033 a0025c0026 a0028c0040 a0030c0046 a0033c0044 a0034c0043 a0036c0039	a0004c0004t0001 a0004c0004t0003 a0004c0004t0006 others(19): Show a0004c0004t0001 a0004c0004t0003 a0004c0004t0006 a0004c0004t0016 a0004c0004t0019 a0004c0004t0038 a0004c0004t0065 a0009c0009t0011 a0009c0009t0035 a0013c0013t0002 a0013c0013t0004 a0013c0013t0047 a0013c0013t0059 a0020c0023t0036 a0021c0025t0033 a0024c0033t0003 a0025c0026t0003 a0028c0040t0028 a0030c0046t0001 a0033c0044t0003 a0034c0043t0003 a0036c0039t0003	a0004c0004t0001g0184 a0004c0004t0001g0287 a0004c0004t0003g0080 others(46): Show a0004c0004t0001g0184 a0004c0004t0001g0287 a0004c0004t0003g0080 a0004c0004t0003g0084 a0004c0004t0003g0087 a0004c0004t0003g0090 a0004c0004t0003g0105 a0004c0004t0003g0109 a0004c0004t0003g0135 a0004c0004t0003g0136 a0004c0004t0003g0137 a0004c0004t0003g0141 a0004c0004t0003g0156 a0004c0004t0003g0157 a0004c0004t0003g0158 a0004c0004t0003g0160 a0004c0004t0003g0161 a0004c0004t0003g0162 a0004c0004t0003g0163 a0004c0004t0003g0197 a0004c0004t0003g0198 a0004c0004t0003g0288 a0004c0004t0006g0196 a0004c0004t0016g0293 a0004c0004t0019g0192 a0004c0004t0019g0353 a0004c0004t0038g0159 a0004c0004t0065g0106 a0009c0009t0011g0014 a0009c0009t0011g0031 a0009c0009t0011g0038 a0009c0009t0011g0040 a0009c0009t0011g0046 a0009c0009t0035g0034 a0013c0013t0002g0155 a0013c0013t0004g0339 a0013c0013t0047g0350 a0013c0013t0059g0238 a0020c0023t0036g0327 a0020c0023t0036g0352 a0021c0025t0033g0309 a0021c0025t0033g0310 a0024c0033t0003g0177 a0025c0026t0003g0154 a0028c0040t0028g0006 a0030c0046t0001g0286 a0033c0044t0003g0164 a0034c0043t0003g0120 a0036c0039t0003g0111	49	364	0.1346	0	c.155 others(4): Show c.1551A>C	p.Gln others(6): Show p.Gln517His	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	11/13	1718/3438	1551/1890	517/629		chr20	TogoVar
BCAS1_chr20_53938541_54075594	53995013	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00642.hp1 HG01106.hp1 HG01167.hp2 others(30): Show HG00642.hp1 HG01106.hp1 HG01167.hp2 HG01261.hp2 HG02055.hp2 HG02109.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp2 NA19043.hp1 NA20129.hp2 NA21309.hp2	a0007 a0008 a0010 others(3): Show a0007 a0008 a0010 a0011 a0022 a0026	a0007c0008 a0008c0010 a0008c0021 others(4): Show a0007c0008 a0008c0010 a0008c0021 a0010c0011 a0011c0012 a0022c0027 a0026c0036	a0007c0008t0002 a0007c0008t0008 a0007c0008t0009 others(18): Show a0007c0008t0002 a0007c0008t0008 a0007c0008t0009 a0007c0008t0010 a0007c0008t0016 a0007c0008t0020 a0007c0008t0062 a0007c0008t0067 a0008c0010t0002 a0008c0010t0016 a0008c0010t0017 a0008c0021t0002 a0010c0011t0002 a0010c0011t0017 a0010c0011t0020 a0010c0011t0054 a0011c0012t0002 a0011c0012t0021 a0011c0012t0061 a0022c0027t0020 a0026c0036t0002	a0007c0008t0002g0078 a0007c0008t0002g0152 a0007c0008t0002g0199 others(30): Show a0007c0008t0002g0078 a0007c0008t0002g0152 a0007c0008t0002g0199 a0007c0008t0008g0179 a0007c0008t0008g0181 a0007c0008t0009g0246 a0007c0008t0010g0185 a0007c0008t0010g0205 a0007c0008t0016g0210 a0007c0008t0016g0218 a0007c0008t0020g0183 a0007c0008t0062g0262 a0007c0008t0067g0074 a0008c0010t0002g0243 a0008c0010t0016g0229 a0008c0010t0017g0240 a0008c0010t0017g0241 a0008c0010t0017g0242 a0008c0010t0017g0260 a0008c0021t0002g0148 a0008c0021t0002g0149 a0010c0011t0002g0209 a0010c0011t0017g0203 a0010c0011t0020g0202 a0010c0011t0020g0208 a0010c0011t0054g0186 a0011c0012t0002g0291 a0011c0012t0002g0292 a0011c0012t0002g0297 a0011c0012t0021g0298 a0011c0012t0061g0307 a0022c0027t0020g0227 a0026c0036t0002g0295	33	364	0.0907	0	c.926 others(3): Show c.926C>T	p.Thr others(6): Show p.Thr309Met	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	6/13	1093/3438	926/1890	309/629		chr20	TogoVar
BCAS1_chr20_53938541_54075594	54058649	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(215): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp2	a0001 a0003 a0006 others(15): Show a0001 a0003 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0015 a0017 a0018 a0019 a0020 a0022 a0023 a0024 a0025	a0001c0001 a0001c0007 a0001c0017 others(24): Show a0001c0001 a0001c0007 a0001c0017 a0001c0034 a0001c0035 a0003c0003 a0003c0028 a0003c0030 a0006c0006 a0006c0032 a0007c0008 a0008c0010 a0008c0021 a0009c0009 a0010c0011 a0012c0016 a0012c0031 a0013c0013 a0015c0015 a0017c0024 a0018c0020 a0019c0022 a0020c0023 a0022c0027 a0023c0029 a0024c0033 a0025c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(96): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0031 a0001c0001t0034 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0049 a0001c0001t0051 a0001c0001t0068 a0001c0007t0001 a0001c0007t0004 a0001c0007t0007 a0001c0007t0014 a0001c0007t0015 a0001c0007t0048 a0001c0007t0050 a0001c0017t0012 a0001c0017t0016 a0001c0017t0043 a0001c0034t0013 a0001c0035t0024 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0003c0003t0007 a0003c0003t0008 a0003c0003t0009 a0003c0003t0011 a0003c0003t0013 a0003c0003t0014 a0003c0003t0019 a0003c0003t0024 a0003c0003t0028 a0003c0003t0044 a0003c0003t0045 a0003c0028t0013 a0003c0030t0004 a0006c0006t0012 a0006c0006t0018 a0006c0006t0023 a0006c0006t0025 a0006c0006t0026 a0006c0006t0027 a0006c0006t0029 a0006c0006t0066 a0006c0032t0023 a0007c0008t0002 a0007c0008t0008 a0007c0008t0009 a0007c0008t0010 a0007c0008t0016 a0007c0008t0020 a0007c0008t0062 a0007c0008t0067 a0008c0010t0002 a0008c0010t0016 a0008c0010t0017 a0008c0021t0002 a0009c0009t0011 a0009c0009t0035 a0010c0011t0002 a0010c0011t0017 a0010c0011t0020 a0010c0011t0054 a0012c0016t0009 a0012c0016t0010 a0012c0031t0005 a0013c0013t0002 a0013c0013t0004 a0013c0013t0047 a0013c0013t0059 a0015c0015t0027 a0015c0015t0046 a0017c0024t0010 a0018c0020t0005 a0019c0022t0012 a0020c0023t0036 a0022c0027t0020 a0023c0029t0005 a0024c0033t0003 a0025c0026t0003	a0001c0001t0001g0175 a0001c0001t0001g0223 a0001c0001t0001g0224 others(214): Show a0001c0001t0001g0175 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0245 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0002g0070 a0001c0001t0002g0153 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0003g0165 a0001c0001t0004g0122 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0330 a0001c0001t0004g0336 a0001c0001t0004g0344 a0001c0001t0004g0346 a0001c0001t0004g0348 a0001c0001t0004g0349 a0001c0001t0004g0351 a0001c0001t0005g0019 a0001c0001t0007g0015 a0001c0001t0007g0020 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0007g0050 a0001c0001t0008g0075 a0001c0001t0008g0076 a0001c0001t0008g0079 a0001c0001t0008g0150 a0001c0001t0008g0228 a0001c0001t0008g0231 a0001c0001t0008g0232 a0001c0001t0008g0235 a0001c0001t0009g0188 a0001c0001t0009g0200 a0001c0001t0009g0230 a0001c0001t0009g0259 a0001c0001t0010g0077 a0001c0001t0010g0187 a0001c0001t0011g0025 a0001c0001t0014g0322 a0001c0001t0015g0326 a0001c0001t0015g0333 a0001c0001t0015g0343 a0001c0001t0015g0345 a0001c0001t0015g0356 a0001c0001t0020g0189 a0001c0001t0021g0073 a0001c0001t0022g0166 a0001c0001t0024g0252 a0001c0001t0025g0151 a0001c0001t0030g0247 a0001c0001t0030g0249 a0001c0001t0030g0250 a0001c0001t0031g0168 a0001c0001t0031g0251 a0001c0001t0031g0255 a0001c0001t0034g0009 a0001c0001t0034g0024 a0001c0001t0039g0358 a0001c0001t0040g0008 a0001c0001t0041g0052 a0001c0001t0049g0338 a0001c0001t0051g0315 a0001c0001t0068g0359 a0001c0007t0001g0335 a0001c0007t0004g0313 a0001c0007t0004g0314 a0001c0007t0004g0331 a0001c0007t0004g0332 a0001c0007t0004g0337 a0001c0007t0004g0342 a0001c0007t0007g0054 a0001c0007t0014g0328 a0001c0007t0014g0329 a0001c0007t0014g0341 a0001c0007t0015g0319 a0001c0007t0048g0299 a0001c0007t0050g0321 a0001c0017t0012g0207 a0001c0017t0016g0234 a0001c0017t0043g0068 a0001c0034t0013g0010 a0001c0035t0024g0248 a0003c0003t0001g0311 a0003c0003t0002g0145 a0003c0003t0002g0258 a0003c0003t0004g0167 a0003c0003t0004g0206 a0003c0003t0005g0013 a0003c0003t0005g0021 a0003c0003t0005g0022 a0003c0003t0005g0033 a0003c0003t0005g0036 a0003c0003t0005g0039 a0003c0003t0005g0044 a0003c0003t0005g0047 a0003c0003t0005g0051 a0003c0003t0005g0056 a0003c0003t0005g0057 a0003c0003t0005g0060 a0003c0003t0005g0061 a0003c0003t0005g0065 a0003c0003t0005g0067 a0003c0003t0007g0001 a0003c0003t0007g0035 a0003c0003t0008g0072 a0003c0003t0009g0182 a0003c0003t0011g0055 a0003c0003t0013g0017 a0003c0003t0013g0045 a0003c0003t0013g0048 a0003c0003t0013g0049 a0003c0003t0014g0312 a0003c0003t0014g0340 a0003c0003t0019g0081 a0003c0003t0019g0082 a0003c0003t0024g0237 a0003c0003t0028g0016 a0003c0003t0028g0032 a0003c0003t0044g0041 a0003c0003t0045g0011 a0003c0028t0013g0018 a0003c0030t0004g0300 a0006c0006t0012g0069 a0006c0006t0012g0178 a0006c0006t0012g0191 a0006c0006t0018g0143 a0006c0006t0018g0301 a0006c0006t0018g0302 a0006c0006t0018g0320 a0006c0006t0018g0323 a0006c0006t0023g0071 a0006c0006t0023g0201 a0006c0006t0025g0173 a0006c0006t0025g0176 a0006c0006t0026g0042 a0006c0006t0026g0059 a0006c0006t0026g0064 a0006c0006t0027g0023 a0006c0006t0029g0144 a0006c0006t0029g0334 a0006c0006t0029g0347 a0006c0006t0066g0172 a0006c0032t0023g0226 a0007c0008t0002g0078 a0007c0008t0002g0152 a0007c0008t0002g0199 a0007c0008t0008g0179 a0007c0008t0008g0181 a0007c0008t0009g0246 a0007c0008t0010g0185 a0007c0008t0010g0205 a0007c0008t0016g0210 a0007c0008t0016g0218 a0007c0008t0020g0183 a0007c0008t0062g0262 a0007c0008t0067g0074 a0008c0010t0002g0243 a0008c0010t0016g0229 a0008c0010t0017g0240 a0008c0010t0017g0241 a0008c0010t0017g0242 a0008c0010t0017g0260 a0008c0021t0002g0148 a0008c0021t0002g0149 a0009c0009t0011g0014 a0009c0009t0011g0031 a0009c0009t0011g0038 a0009c0009t0011g0040 a0009c0009t0011g0046 a0009c0009t0035g0034 a0010c0011t0002g0209 a0010c0011t0017g0203 a0010c0011t0020g0202 a0010c0011t0020g0208 a0010c0011t0054g0186 a0012c0016t0009g0261 a0012c0016t0009g0306 a0012c0016t0010g0190 a0012c0031t0005g0043 a0013c0013t0002g0155 a0013c0013t0004g0339 a0013c0013t0047g0350 a0013c0013t0059g0238 a0015c0015t0027g0037 a0015c0015t0027g0058 a0015c0015t0046g0066 a0017c0024t0010g0236 a0017c0024t0010g0239 a0018c0020t0005g0062 a0018c0020t0005g0063 a0019c0022t0012g0233 a0019c0022t0012g0308 a0020c0023t0036g0327 a0020c0023t0036g0352 a0022c0027t0020g0227 a0023c0029t0005g0012 a0024c0033t0003g0177 a0025c0026t0003g0154	218	364	0.5989	0	c.70C others(2): Show c.70C>A	p.Gln others(5): Show p.Gln24Lys	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	2/13	237/3438	70/1890	24/629		chr20	TogoVar
BCAS2_chr1_114562557_114586615	114575592	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0133 a0001c0003t0001g0133	1	414	0.0024	0	c.417 others(3): Show c.417T>C	p.Asn others(6): Show p.Asn139Asn	BCAS2	ENSG00000116752.6	transcript	ENST00000369541.4	protein_coding	4/7	441/1275	417/678	139/225		chr1	TogoVar
BCAS2_chr1_114562557_114586615	114576764	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02451.hp1 HG02896.hp2 HG02451.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0120 a0001c0001t0002g0124	2	414	0.0048	0	c.187 others(5): Show c.187-6C>T		BCAS2	ENSG00000116752.6	transcript	ENST00000369541.4	protein_coding	2/6					chr1	TogoVar
BCAS3_chr17_60672851_61397831	60868689	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0002 a0003c0001t0002	a0003c0001t0002g0029 a0003c0001t0002g0029	1	74	0.0135	0	c.584 others(5): Show c.584+6G>T		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	8/23					chr17	TogoVar
BCAS3_chr17_60672851_61397831	61074914	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0047 a0001c0004t0001g0047	1	74	0.0135	0	c.203 others(6): Show c.2030-6C>T		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23					chr17	TogoVar
BCAS4_chr20_50790061_50882177	50830385	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	270	0.0037	0	c.264 others(5): Show c.264+5G>A		BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	3/4					chr20	TogoVar
BCAT1_chr12_24805024_24954101	24832719	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp1 HG00609.hp2 HG01106.hp2 others(16): Show HG00558.hp1 HG00609.hp2 HG01106.hp2 HG01192.hp1 HG01515.hp1 HG01517.hp2 HG02683.hp1 HG02735.hp2 NA18942.hp1 NA18944.hp1 NA18957.hp2 NA18975.hp2 NA18995.hp1 NA19002.hp2 NA19056.hp2 NA19062.hp1 NA19085.hp1 NA19088.hp1 NA19091.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0004 a0005c0006 a0001c0001 a0002c0004 a0005c0006	a0001c0001t0007 a0001c0001t0010 a0001c0001t0018 others(9): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0018 a0001c0001t0045 a0001c0001t0046 a0001c0001t0051 a0001c0001t0118 a0001c0001t0119 a0001c0001t0122 a0001c0001t0123 a0002c0004t0044 a0005c0006t0127	a0001c0001t0007g0014 a0001c0001t0007g0070 a0001c0001t0007g0230 others(16): Show a0001c0001t0007g0014 a0001c0001t0007g0070 a0001c0001t0007g0230 a0001c0001t0010g0309 a0001c0001t0010g0320 a0001c0001t0018g0116 a0001c0001t0018g0117 a0001c0001t0045g0136 a0001c0001t0045g0247 a0001c0001t0046g0147 a0001c0001t0046g0148 a0001c0001t0051g0310 a0001c0001t0118g0089 a0001c0001t0119g0229 a0001c0001t0122g0082 a0001c0001t0123g0051 a0002c0004t0044g0179 a0002c0004t0044g0239 a0005c0006t0127g0173	19	322	0.0590	0	c.104 others(6): Show c.1044+4C>T		BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	9/10					chr12	TogoVar
BCAT2_chr19_48790064_48816029	48796570	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01070.hp1 HG01167.hp1 HG01257.hp2 others(14): Show HG01070.hp1 HG01167.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01884.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02630.hp1 HG04199.hp1 HG04204.hp1 NA18948.hp2 NA18979.hp2 NA18981.hp1 NA18998.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0026 others(8): Show a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0066 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242	17	408	0.0417	0	c.106 others(6): Show c.1065+8G>A		BCAT2	ENSG00000105552.15	transcript	ENST00000316273.11	protein_coding	9/10					chr19	TogoVar
BCAT2_chr19_48790064_48816029	48806519	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0188 a0003c0003t0001g0189	2	408	0.0049	0	c.298 others(3): Show c.298C>G	p.Gln others(6): Show p.Gln100Glu	BCAT2	ENSG00000105552.15	transcript	ENST00000316273.11	protein_coding	3/11	320/1563	298/1179	100/392		chr19	TogoVar
BCAT2_chr19_48790064_48816029	48806994	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	408	0.0025	0	c.99+ others(4): Show c.99+6A>G		BCAT2	ENSG00000105552.15	transcript	ENST00000316273.11	protein_coding	2/10					chr19	TogoVar
BCHE_chr3_165767904_165842423	165786142	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp2 HG02622.hp2 HG02818.hp2 others(3): Show HG02559.hp2 HG02622.hp2 HG02818.hp2 HG02970.hp1 HG03195.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0046 a0001c0001t0003g0139 others(1): Show a0001c0001t0003g0006 a0001c0001t0003g0046 a0001c0001t0003g0139 a0001c0001t0003g0140	6	304	0.0197	0	c.168 others(6): Show c.1684+3G>A		BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	3/3					chr3	TogoVar
BCHE_chr3_165767904_165842423	165786317	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	304	0.0033	0	c.151 others(6): Show c.1518-6A>G		BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3					chr3	TogoVar
BCKDHA_chr19_41392818_41430002	41414045	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	374	0.0027	0	c.376 others(5): Show c.376-4C>T		BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding	3/8					chr19	TogoVar
BCKDHA_chr19_41392818_41430002	41414162	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	374	0.0027	0	c.484 others(5): Show c.484+5G>A		BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding	4/8					chr19	TogoVar
BCKDHA_chr19_41392818_41430002	41422165	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0249 a0001c0011t0001g0249	1	374	0.0027	0	c.648 others(3): Show c.648G>A	p.Ala others(6): Show p.Ala216Ala	BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding	6/9	658/1742	648/1338	216/445		chr19	TogoVar
BCKDHA_chr19_41392818_41430002	41422165	G G	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0260 a0001c0014t0001g0260	1	374	0.0027	0	c.648 others(3): Show c.648G>T	p.Ala others(6): Show p.Ala216Ala	BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding	6/9	658/1742	648/1338	216/445		chr19	TogoVar
BCKDHA_chr19_41392818_41430002	41422992	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG02572.hp2 HG02818.hp2 others(4): Show HG01109.hp2 HG02572.hp2 HG02818.hp2 HG02976.hp2 HG03540.hp2 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0008 a0001c0014 a0001c0008 a0001c0014	a0001c0008t0001 a0001c0014t0001 a0001c0008t0001 a0001c0014t0001	a0001c0008t0001g0038 a0001c0008t0001g0261 a0001c0008t0001g0262 others(3): Show a0001c0008t0001g0038 a0001c0008t0001g0261 a0001c0008t0001g0262 a0001c0008t0001g0263 a0001c0008t0001g0264 a0001c0014t0001g0260	7	374	0.0187	0	c.996 others(5): Show c.996-6G>A		BCKDHA	ENSG00000248098.12	transcript	ENST00000269980.7	protein_coding	7/8					chr19	TogoVar
BCKDHB_chr6_80101671_80351270	80171397	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02071.hp2 HG02280.hp1 HG02071.hp2 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0022 a0001c0003t0003 a0001c0003t0022	a0001c0003t0003g0095 a0001c0003t0022g0106 a0001c0003t0003g0095 a0001c0003t0022g0106	2	294	0.0068	0	c.742 others(5): Show c.742+7A>T		BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	6/9					chr6	TogoVar
BCKDK_chr16_31103386_31117791	31111292	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	300	0.0033	0	c.846 others(5): Show c.846-8C>T		BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding	9/11					chr16	TogoVar
BCL10_chr1_85260776_85281632	85267987	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02896.hp2 HG03471.hp1 HG02896.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0085 a0001c0001t0030g0086 a0001c0001t0001g0085 a0001c0001t0030g0086	2	446	0.0045	0	c.347 others(5): Show c.347-5T>C		BCL10	ENSG00000142867.14	transcript	ENST00000648566.1	protein_coding	2/2					chr1	TogoVar
BCL10_chr1_85260776_85281632	85270911	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	446	0.0022	0	c.58- others(4): Show c.58-5T>C		BCL10	ENSG00000142867.14	transcript	ENST00000648566.1	protein_coding	1/2					chr1	TogoVar
BCL2A1_chr15_79955892_79976196	79961182	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp1 HG03098.hp2 HG06807.hp1 others(1): Show HG02055.hp1 HG03098.hp2 HG06807.hp1 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0099 a0001c0001t0001g0109 a0003c0003t0001g0043 a0001c0001t0001g0099 a0001c0001t0001g0109 a0003c0003t0001g0043	4	436	0.0092	0	c.421 others(5): Show c.421-8T>G		BCL2A1	ENSG00000140379.9	transcript	ENST00000267953.4	protein_coding	1/1					chr15	TogoVar
BCL2L12_chr19_49660933_49678916	49673694	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp1 HG03225.hp2 HG02258.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	380	0.0053	0	c.703 others(5): Show c.703-4C>T		BCL2L12	ENSG00000126453.11	transcript	ENST00000246784.8	protein_coding	6/6					chr19	TogoVar
BCL2L12_chr19_49660933_49678916	49673914	G G	A A	splice_region_variant splice_region_variant	LOW	HG00140.hp2 HG00642.hp1 HG01891.hp1 others(23): Show HG00140.hp2 HG00642.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG02056.hp1 HG02083.hp2 HG02132.hp1 HG03017.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18944.hp2 NA18949.hp2 NA18963.hp2 NA18985.hp1 NA18987.hp1 NA18992.hp2 NA18994.hp1 NA19011.hp1 NA19070.hp1 NA19082.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0019 a0001c0001t0002g0044 others(4): Show a0001c0001t0002g0002 a0001c0001t0002g0019 a0001c0001t0002g0044 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0079 a0001c0001t0002g0081	26	380	0.0684	0	c.16 others(4): Show c.166G>A		BCL2L12	ENSG00000126453.11	transcript	ENST00000246784.8	protein_coding	7/7					chr19	TogoVar
BCL2L14_chr12_12065939_12104695	12094660	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(57): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01358.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01952.hp2 HG02257.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp2 HG04115.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18957.hp1 NA18966.hp2 NA18974.hp1 NA18995.hp2 NA19012.hp1 NA20129.hp1 NA20905.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0008 others(8): Show a0001c0001 a0001c0003 a0001c0008 a0001c0011 a0001c0021 a0001c0022 a0001c0026 a0003c0012 a0003c0017 a0004c0010 a0004c0023	a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 others(8): Show a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 a0001c0011t0001 a0001c0021t0001 a0001c0022t0001 a0001c0026t0008 a0003c0012t0001 a0003c0017t0006 a0004c0010t0001 a0004c0023t0001	a0001c0001t0001g0089 a0001c0003t0001g0004 a0001c0003t0001g0008 others(48): Show a0001c0001t0001g0089 a0001c0003t0001g0004 a0001c0003t0001g0008 a0001c0003t0001g0028 a0001c0003t0001g0030 a0001c0003t0001g0052 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0067 a0001c0003t0001g0133 a0001c0003t0001g0136 a0001c0003t0001g0152 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0179 a0001c0003t0001g0190 a0001c0003t0001g0192 a0001c0003t0001g0207 a0001c0003t0001g0212 a0001c0003t0001g0218 a0001c0003t0001g0220 a0001c0003t0001g0225 a0001c0003t0001g0229 a0001c0003t0001g0232 a0001c0003t0001g0255 a0001c0003t0001g0263 a0001c0003t0001g0276 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0001g0289 a0001c0003t0001g0309 a0001c0003t0001g0320 a0001c0003t0001g0372 a0001c0003t0001g0375 a0001c0003t0001g0376 a0001c0003t0001g0377 a0001c0003t0001g0379 a0001c0008t0001g0118 a0001c0008t0001g0199 a0001c0008t0001g0304 a0001c0011t0001g0180 a0001c0011t0001g0181 a0001c0011t0001g0195 a0001c0021t0001g0202 a0001c0022t0001g0201 a0001c0026t0008g0210 a0003c0012t0001g0011 a0003c0017t0006g0058 a0004c0010t0001g0038 a0004c0010t0001g0206 a0004c0023t0001g0301	60	454	0.1322	0	c.679 others(5): Show c.679-4A>G		BCL2L14	ENSG00000121380.12	transcript	ENST00000308721.9	protein_coding	4/5					chr12	TogoVar
BCL2L14_chr12_12065939_12104695	12094937	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0342	1	454	0.0022	0	c.945 others(5): Show c.945+7G>A		BCL2L14	ENSG00000121380.12	transcript	ENST00000308721.9	protein_coding	5/5					chr12	TogoVar
BCL2L15_chr1_113871816_113892581	113876817	G G	A A	splice_region_variant splice_region_variant	LOW	HG02723.hp1 HG02896.hp2 HG02897.hp2 HG02723.hp1 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044	a0001c0001t0041g0057 a0001c0001t0042g0058 a0001c0001t0044g0061 a0001c0001t0041g0057 a0001c0001t0042g0058 a0001c0001t0044g0061	3	458	0.0066	0	c.43 others(5): Show c.4306C>T		BCL2L15	ENSG00000188761.13	transcript	ENST00000393316.8	protein_coding	4/4					chr1	TogoVar
BCL3_chr19_44743708_44765044	44757014	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18948.hp1 NA18948.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0006 a0005c0006t0006	a0005c0006t0006g0138 a0005c0006t0006g0138	1	344	0.0029	0	c.520 others(5): Show c.520-3C>A		BCL3	ENSG00000069399.15	transcript	ENST00000164227.10	protein_coding	3/8					chr19	TogoVar
BCL3_chr19_44743708_44765044	44759423	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02698.hp1 HG02970.hp1 NA19043.hp2 HG02698.hp1 HG02970.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0076 a0001c0001t0003g0105 a0001c0001t0003g0051 a0001c0001t0003g0076 a0001c0001t0003g0105	3	344	0.0087	0	c.117 others(6): Show c.1178-5C>T		BCL3	ENSG00000069399.15	transcript	ENST00000164227.10	protein_coding	8/8					chr19	TogoVar
BCL6_chr3_187716381_187750468	187733525	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp2 HG00673.hp2 NA19002.hp2 others(1): Show HG00544.hp2 HG00673.hp2 NA19002.hp2 NA19084.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0018 a0002c0003t0001g0211 a0002c0003t0001g0312 a0002c0003t0001g0018 a0002c0003t0001g0211 a0002c0003t0001g0312	4	404	0.0099	0	c.161 others(5): Show c.161+8A>T		BCL6	ENSG00000113916.18	transcript	ENST00000406870.7	protein_coding	3/9					chr3	TogoVar
BCL7A_chr12_122016884_122067044	122022181	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02300.hp2 HG02300.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0011 a0004c0011t0011	a0004c0011t0011g0215 a0004c0011t0011g0215	1	362	0.0028	0	c.90A others(2): Show c.90A>C	p.Lys others(5): Show p.Lys30Asn	BCL7A	ENSG00000110987.9	transcript	ENST00000261822.5	protein_coding	1/6	298/3722	90/633	30/210		chr12	TogoVar
BCL7A_chr12_122016884_122067044	122022182	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18747.hp1 NA18747.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0035 a0003c0008t0035	a0003c0008t0035g0002 a0003c0008t0035g0002	1	362	0.0028	0	c.91T others(2): Show c.91T>A	p.Trp others(5): Show p.Trp31Arg	BCL7A	ENSG00000110987.9	transcript	ENST00000261822.5	protein_coding	1/6	299/3722	91/633	31/210		chr12	TogoVar
BCL7A_chr12_122016884_122067044	122022189	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0361 a0001c0001t0002g0361	1	362	0.0028	0	c.92+ others(4): Show c.92+6C>T		BCL7A	ENSG00000110987.9	transcript	ENST00000261822.5	protein_coding	1/5					chr12	TogoVar
BCL7A_chr12_122016884_122067044	122030781	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01168.hp2 HG01255.hp2 HG01261.hp1 others(9): Show HG01168.hp2 HG01255.hp2 HG01261.hp1 HG02523.hp1 HG03017.hp2 HG03239.hp2 HG03927.hp2 NA18949.hp2 NA18956.hp2 NA18964.hp1 NA18980.hp2 NA19060.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0010 a0001c0003 a0001c0006 a0001c0010	a0001c0003t0012 a0001c0003t0015 a0001c0003t0057 others(4): Show a0001c0003t0012 a0001c0003t0015 a0001c0003t0057 a0001c0003t0058 a0001c0006t0012 a0001c0006t0065 a0001c0010t0012	a0001c0003t0012g0264 a0001c0003t0012g0266 a0001c0003t0012g0268 others(9): Show a0001c0003t0012g0264 a0001c0003t0012g0266 a0001c0003t0012g0268 a0001c0003t0015g0008 a0001c0003t0015g0269 a0001c0003t0015g0270 a0001c0003t0015g0271 a0001c0003t0057g0328 a0001c0003t0058g0273 a0001c0006t0012g0272 a0001c0006t0065g0267 a0001c0010t0012g0327	12	362	0.0332	0	c.174 others(3): Show c.174C>T	p.Asp others(5): Show p.Asp58Asp	BCL7A	ENSG00000110987.9	transcript	ENST00000261822.5	protein_coding	2/6	382/3722	174/633	58/210		chr12	TogoVar
BCL7B_chr7_73531356_73562690	73552247	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	284	0.0035	0	c.93- others(4): Show c.93-5T>G		BCL7B	ENSG00000106635.8	transcript	ENST00000223368.7	protein_coding	1/5					chr7	TogoVar
BCL9_chr1_147536501_147631216	147604909	A A	G G	splice_region_variant splice_region_variant	LOW	HG00140.hp1 HG00323.hp1 HG00639.hp1 others(66): Show HG00140.hp1 HG00323.hp1 HG00639.hp1 HG01099.hp2 HG01109.hp1 HG01175.hp2 HG01346.hp1 HG01433.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 others(12): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0001c0007t0009 a0002c0002t0007	a0001c0001t0006g0018 a0001c0001t0006g0161 a0001c0001t0006g0192 others(63): Show a0001c0001t0006g0018 a0001c0001t0006g0161 a0001c0001t0006g0192 a0001c0001t0006g0201 a0001c0001t0006g0203 a0001c0001t0006g0216 a0001c0001t0006g0222 a0001c0001t0006g0223 a0001c0001t0006g0225 a0001c0001t0006g0230 a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0001t0006g0240 a0001c0001t0006g0264 a0001c0001t0006g0271 a0001c0001t0006g0272 a0001c0001t0006g0275 a0001c0001t0006g0278 a0001c0001t0006g0282 a0001c0001t0006g0284 a0001c0001t0007g0010 a0001c0001t0007g0053 a0001c0001t0007g0073 a0001c0001t0007g0074 a0001c0001t0007g0085 a0001c0001t0007g0088 a0001c0001t0007g0097 a0001c0001t0007g0103 a0001c0001t0007g0132 a0001c0001t0007g0139 a0001c0001t0007g0149 a0001c0001t0007g0191 a0001c0001t0009g0017 a0001c0001t0009g0197 a0001c0001t0009g0200 a0001c0001t0009g0202 a0001c0001t0009g0218 a0001c0001t0009g0219 a0001c0001t0009g0228 a0001c0001t0009g0231 a0001c0001t0009g0246 a0001c0001t0009g0266 a0001c0001t0009g0270 a0001c0001t0009g0280 a0001c0001t0011g0051 a0001c0001t0011g0058 a0001c0001t0011g0086 a0001c0001t0011g0138 a0001c0001t0011g0142 a0001c0001t0011g0148 a0001c0001t0014g0195 a0001c0001t0014g0229 a0001c0001t0014g0234 a0001c0001t0015g0198 a0001c0001t0015g0217 a0001c0001t0016g0224 a0001c0001t0016g0265 a0001c0001t0021g0220 a0001c0001t0022g0212 a0001c0001t0023g0208 a0001c0001t0024g0194 a0001c0001t0025g0239 a0001c0001t0029g0147 a0001c0007t0009g0273 a0002c0002t0007g0100 a0002c0002t0007g0117	69	316	0.2184	0	c.-34 others(4): Show c.-345A>G		BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding	2/10					chr1	TogoVar
BCLAF1_chr6_136251627_136294846	136256627	G G	A A	splice_region_variant splice_region_variant	LOW	HG00544.hp1 NA18946.hp1 NA18947.hp1 others(2): Show HG00544.hp1 NA18946.hp1 NA18947.hp1 NA18967.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0105 a0001c0001t0008g0108 a0001c0001t0008g0109 others(2): Show a0001c0001t0008g0105 a0001c0001t0008g0108 a0001c0001t0008g0109 a0001c0001t0008g0110 a0001c0001t0008g0111	5	310	0.0161	0	c.44 others(5): Show c.4483C>T		BCLAF1	ENSG00000029363.17	transcript	ENST00000531224.6	protein_coding	13/13					chr6	TogoVar
BCLAF3_chrX_19907860_19996061	19990907	C C	CA CA	splice_region_variant splice_region_variant	LOW	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0089 a0001c0001t0047g0089	1	207	0.0048	1	c.-35 others(10): Show c.-35_-35+1insT		BCLAF3	ENSG00000173681.17	transcript	ENST00000379682.9	protein_coding	1/12					chrX	TogoVar
BCO1_chr16_81233689_81296142	81270154	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(65): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01978.hp2 HG01993.hp2 HG02083.hp2 HG02129.hp2 HG02155.hp1 HG02257.hp2 HG02293.hp2 HG02300.hp1 HG02698.hp1 HG02738.hp1 HG03491.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 NA18945.hp2 NA18950.hp2 NA18952.hp2 NA18964.hp2 NA18973.hp1 NA18975.hp1 NA18982.hp2 NA18988.hp1 NA18990.hp1 NA18998.hp2 NA18999.hp2 NA19005.hp1 NA19058.hp2 NA19062.hp1 NA19070.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0011	a0001c0001 a0001c0002 a0002c0004 others(5): Show a0001c0001 a0001c0002 a0002c0004 a0002c0006 a0002c0022 a0005c0010 a0005c0024 a0011c0023	a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 a0002c0006t0001 a0002c0022t0001 a0005c0010t0001 a0005c0024t0001 a0011c0023t0001	a0001c0001t0001g0211 a0001c0001t0001g0318 a0001c0002t0001g0127 others(64): Show a0001c0001t0001g0211 a0001c0001t0001g0318 a0001c0002t0001g0127 a0002c0004t0001g0004 a0002c0004t0001g0032 a0002c0004t0001g0033 a0002c0004t0001g0039 a0002c0004t0001g0044 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0050 a0002c0004t0001g0051 a0002c0004t0001g0053 a0002c0004t0001g0055 a0002c0004t0001g0064 a0002c0004t0001g0065 a0002c0004t0001g0066 a0002c0004t0001g0078 a0002c0004t0001g0079 a0002c0004t0001g0080 a0002c0004t0001g0082 a0002c0004t0001g0090 a0002c0004t0001g0092 a0002c0004t0001g0093 a0002c0004t0001g0094 a0002c0004t0001g0099 a0002c0004t0001g0102 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0106 a0002c0004t0001g0108 a0002c0004t0001g0109 a0002c0004t0001g0110 a0002c0004t0001g0128 a0002c0004t0001g0129 a0002c0004t0001g0130 a0002c0004t0001g0134 a0002c0004t0001g0139 a0002c0004t0001g0140 a0002c0004t0001g0141 a0002c0004t0001g0142 a0002c0004t0001g0144 a0002c0004t0001g0145 a0002c0004t0001g0168 a0002c0006t0001g0150 a0002c0006t0001g0186 a0002c0006t0001g0222 a0002c0006t0001g0238 a0002c0006t0001g0243 a0002c0006t0001g0245 a0002c0006t0001g0248 a0002c0006t0001g0249 a0002c0006t0001g0250 a0002c0006t0001g0310 a0002c0006t0001g0311 a0002c0006t0001g0312 a0002c0006t0001g0314 a0002c0006t0001g0315 a0002c0006t0001g0321 a0002c0006t0001g0364 a0002c0006t0001g0378 a0002c0006t0001g0389 a0002c0022t0001g0333 a0005c0010t0001g0095 a0005c0010t0001g0343 a0005c0024t0001g0384 a0011c0023t0001g0174	68	402	0.1692	0	c.844 others(5): Show c.844-5T>C		BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	6/10					chr16	TogoVar
BCO2_chr11_112170512_112223946	112194760	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00438.hp2 HG00558.hp2 others(161): Show HG00099.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18948.hp2 NA18950.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp2 NA18975.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18989.hp2 NA18992.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19001.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19086.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0006 a0008 a0009 a0015	a0001c0001 a0001c0008 a0001c0017 others(6): Show a0001c0001 a0001c0008 a0001c0017 a0004c0005 a0005c0004 a0006c0012 a0008c0009 a0009c0010 a0015c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0008t0001 a0001c0017t0001 a0004c0005t0001 a0005c0004t0001 a0006c0012t0005 a0008c0009t0004 a0009c0010t0001 a0015c0020t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(151): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0058 a0001c0001t0001g0083 a0001c0001t0001g0098 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0109 a0001c0001t0002g0124 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0303 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0003g0005 a0001c0001t0003g0177 a0001c0001t0003g0265 a0001c0001t0003g0311 a0001c0001t0009g0097 a0001c0001t0010g0274 a0001c0008t0001g0156 a0001c0008t0001g0157 a0001c0017t0001g0112 a0004c0005t0001g0326 a0004c0005t0001g0327 a0004c0005t0001g0328 a0004c0005t0001g0355 a0005c0004t0001g0166 a0005c0004t0001g0247 a0005c0004t0001g0300 a0005c0004t0001g0301 a0006c0012t0005g0309 a0006c0012t0005g0310 a0008c0009t0004g0163 a0008c0009t0004g0253 a0009c0010t0001g0205 a0015c0020t0001g0254	164	380	0.4316	0	c.736 others(5): Show c.736+5A>C		BCO2	ENSG00000197580.13	transcript	ENST00000357685.11	protein_coding	5/11					chr11	TogoVar
BCO2_chr11_112170512_112223946	112200613	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02145.hp1 HG02896.hp1 HG02145.hp1 HG02896.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0004 a0008c0009t0004	a0008c0009t0004g0163 a0008c0009t0004g0253 a0008c0009t0004g0163 a0008c0009t0004g0253	2	380	0.0053	0	c.866 others(3): Show c.866G>A	p.Gly others(6): Show p.Gly289Glu	BCO2	ENSG00000197580.13	transcript	ENST00000357685.11	protein_coding	7/12	956/2902	866/1740	289/579		chr11	TogoVar
BCO2_chr11_112170512_112223946	112200615	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0001	a0015c0020t0001g0254 a0015c0020t0001g0254	1	380	0.0026	0	c.868 others(3): Show c.868A>G	p.Met others(6): Show p.Met290Val	BCO2	ENSG00000197580.13	transcript	ENST00000357685.11	protein_coding	7/12	958/2902	868/1740	290/579		chr11	TogoVar
BCORL1_chrX_129977635_130063071	130005181	TC TC	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	203	0.0049	-1	c.-44 others(6): Show c.-44-3delC		BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	1/13				INFO_REALIGN_3_PRIME	chrX	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)