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	distance	status	chr	external
BLOC1S3_chr19_45173784_45186800	45184903	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA19058.hp1 NA18980.hp2 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0001 a0001c0002t0002g0001 a0001c0002t0001g0001 a0001c0002t0002g0001	2	426	0.0047	-11	c.49 others(22): Show c.4999_*5009delAAAAAAAAAAA		BLOC1S3	ENSG00000189114.8	transcript	ENST00000433642.3	protein_coding					3104		chr19	TogoVar
BLOC1S5_chr6_8008567_8069389	8022568	ATTTTTTT others(4): Show ATTTTTTTTTTC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02895.hp2 others(2): Show HG02280.hp1 HG02451.hp2 HG02895.hp2 HG03195.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0191 a0001c0001t0007g0192 a0001c0001t0007g0193 others(2): Show a0001c0001t0007g0191 a0001c0001t0007g0192 a0001c0001t0007g0193 a0001c0001t0007g0194 a0001c0001t0007g0290	5	364	0.0137	-11	c.384 others(28): Show c.384+3788_384+3798delGAAAAAAAAAA		BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	4/4						chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8058357	GAAAAAAA others(4): Show GAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	364	0.0028	-11	c.195 others(28): Show c.195+4166_195+4176delTTTTTTTTTTT		BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4						chr6	TogoVar
BLTP1_chr4_122147331_122367752	122170305	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	336	0.0030	-11	c.-33 others(26): Show c.-33-297_-33-287delAAAAAAAAAAA		BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	2/87					INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122250531	CCCTTCCT others(4): Show CCCTTCCTCAGA	C C	frameshift_variant frameshift_variant	HIGH	NA18974.hp2 NA18974.hp2	a0015 a0015	a0015c0028 a0015c0028	a0015c0028t0001 a0015c0028t0001	a0015c0028t0001g0058 a0015c0028t0001g0058	1	336	0.0030	-11	c.588 others(20): Show c.5882_5892delCTTCCTCAGAC	p.Pro others(6): Show p.Pro1961fs	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	37/88	6257/16162	5882/15282	1961/5093		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122321979	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	336	0.0030	-11	c.109 others(32): Show c.10996-2422_10996-2412delTTTTTTTTTTT		BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	64/87					INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122327521	ATACAGCA others(4): Show ATACAGCATTCT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03540.hp1 NA21309.hp2 HG02257.hp1 HG03540.hp1 NA21309.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0157 a0001c0007t0001g0283 a0001c0007t0001g0284 a0001c0007t0001g0157 a0001c0007t0001g0283 a0001c0007t0001g0284	3	336	0.0089	-11	c.112 others(30): Show c.11260-581_11260-571delACAGCATTCTT		BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	67/87					INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP3A_chr6_34787083_34882514	34801722	TTTATTTA others(4): Show TTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0038 a0003c0003t0038	a0003c0003t0038g0140 a0003c0003t0038g0140	1	312	0.0032	-11	c.44+ others(26): Show c.44+9431_44+9441delATTTATTTATT		BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr6	TogoVar
BLVRA_chr7_43753680_43812342	43798197	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02451.hp1 HG02615.hp2 others(2): Show HG00099.hp1 HG02451.hp1 HG02615.hp2 HG03139.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0124 a0001c0001t0001g0155 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0124 a0001c0001t0001g0155 a0001c0001t0001g0194	5	414	0.0121	-11	c.353 others(28): Show c.353-2249_353-2239delAAAAAAAAAAA		BLVRA	ENSG00000106605.11	transcript	ENST00000265523.9	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
BLVRB_chr19_40442768_40470745	40459327	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA18999.hp1 HG01123.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0220 a0001c0001t0001g0061 a0001c0001t0001g0220	2	362	0.0055	-11	c.80- others(24): Show c.80-793_80-783delTTTTTTTTTTT		BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4						chr19	TogoVar
BLZF1_chr1_169363195_169393305	169391622	CAAAGTTT others(4): Show CAAAGTTTTCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	366	0.0027	-11	c.44 others(22): Show c.4441_*4451delAAAGTTTTCCA		BLZF1	ENSG00000117475.14	transcript	ENST00000367808.8	protein_coding					3318		chr1	TogoVar
BMAL1_chr11_13272790_13392266	13284256	ATATATAT others(4): Show ATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp2 HG03453.hp2 HG02258.hp2 HG02809.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0002g0126 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0002g0126	3	314	0.0096	-11	c.-26 others(30): Show c.-263+6335_-263+6345delATATATATATT		BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13284258	ATATATAT others(4): Show ATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	314	0.0032	-11	c.-26 others(30): Show c.-263+6337_-263+6347delATATATATTTT		BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13284260	ATATATAT others(4): Show ATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG01070.hp1 others(24): Show HG00099.hp1 HG00140.hp2 HG01070.hp1 HG01099.hp1 HG02027.hp1 HG02071.hp1 HG02109.hp1 HG02165.hp2 HG02970.hp1 HG03139.hp2 HG03579.hp1 NA18612.hp1 NA18939.hp1 NA18957.hp2 NA18961.hp2 NA18964.hp1 NA18981.hp2 NA18993.hp2 NA19007.hp1 NA19070.hp2 NA19082.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0218 others(24): Show a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0284 a0001c0001t0001g0294 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0002g0310 a0001c0001t0003g0306 a0001c0002t0001g0293 a0001c0003t0001g0308 a0001c0003t0001g0309	27	314	0.0860	-11	c.-26 others(30): Show c.-263+6339_-263+6349delATATATTTTTT		BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13391432	GAACTAAA others(4): Show GAACTAAACTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(117): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03239.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03710.hp1 HG03927.hp1 NA18612.hp1 NA18939.hp1 NA18940.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18999.hp2 NA19004.hp2 NA19056.hp2 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19070.hp2 NA19084.hp2 NA19086.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(116): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0305 a0001c0001t0003g0238 a0001c0001t0003g0249 a0001c0001t0003g0306 a0001c0001t0005g0106 a0001c0001t0006g0043 a0001c0001t0007g0075 a0001c0003t0001g0308 a0001c0003t0001g0309 a0001c0005t0001g0137 a0001c0006t0001g0175	120	314	0.3822	-11	c.46 others(22): Show c.4677_*4687delAACTAAACTGT		BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding					4167		chr11	TogoVar
BMAL2_chr12_27327836_27430286	27423324	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp1 HG03098.hp1 HG03195.hp2 HG02976.hp1 HG03098.hp1 HG03195.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0011 a0004c0004t0011 a0002c0002t0011 a0004c0004t0011	a0002c0002t0011g0168 a0004c0004t0011g0082 a0004c0004t0011g0083 a0002c0002t0011g0168 a0004c0004t0011g0082 a0004c0004t0011g0083	3	310	0.0097	-11	c.28 others(22): Show c.2805_*2815delTTTTTTTTTTT		BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	17/17				2805	INFO_REALIGN_3_PRIME	chr12	TogoVar
BMERB1_chr16_15429588_15593259	15444123	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp2 HG01517.hp1 others(1): Show HG00738.hp1 HG01175.hp2 HG01517.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0275 others(1): Show a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0275 a0001c0001t0001g0276	4	291	0.0138	-11	c.106 others(28): Show c.106+9381_106+9391delTTTTTTTTTTT		BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15451552	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	1	291	0.0034	-11	c.106 others(30): Show c.106+16807_106+16817delTTTTTTTTTTT		BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15464312	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0162 a0001c0001t0010g0162	1	291	0.0034	-11	c.106 others(30): Show c.106+29563_106+29573delAAAAAAAAAAA		BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15468135	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	291	0.0034	-11	c.106 others(30): Show c.106+33394_106+33404delTTTTTTTTTTT		BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15470825	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp2 HG02717.hp2 others(3): Show HG02145.hp1 HG02572.hp2 HG02717.hp2 HG03041.hp2 HG03098.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0005g0005	6	291	0.0206	-11	c.106 others(30): Show c.106+36084_106+36094delTTTTTTTTTTT		BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15587197	TCGTGACT others(4): Show TCGTGACTTCTC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0164 a0001c0002t0017g0164	1	291	0.0034	-11	c.36 others(20): Show c.369_*379delCGTGACTTCTC		BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	6/6				369		chr16	TogoVar
BMERB1_chr16_15429588_15593259	15591181	ACGGTCCC others(4): Show ACGGTCCCAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0164 a0001c0002t0017g0164	1	291	0.0034	-11	c.43 others(22): Show c.4353_*4363delCGGTCCCAGGG		BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding					2923		chr16	TogoVar
BMP3_chr4_81025708_81062627	81032194	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02165.hp1 HG00408.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0194 a0001c0001t0005g0195 a0001c0001t0001g0194 a0001c0001t0005g0195	2	382	0.0052	-11	c.316 others(26): Show c.316+610_316+620delAAAAAAAAAAA		BMP3	ENSG00000152785.8	transcript	ENST00000282701.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP5_chr6_55748653_55880590	55773439	AGATTAAT others(4): Show AGATTAATTTGC	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0004 a0005c0013t0004	a0005c0013t0004g0167 a0005c0013t0004g0167	1	320	0.0031	-11	c.102 others(28): Show c.1027+599_1027+609delGCAAATTAATC		BMP5	ENSG00000112175.8	transcript	ENST00000370830.4	protein_coding	4/6						chr6	TogoVar
BMP6_chr6_7721099_7886728	7726883	GCGGCCGC others(4): Show GCGGCCGCGCTC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00558.hp1 others(25): Show HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00621.hp1 HG01981.hp2 HG02080.hp2 HG02109.hp1 HG02738.hp1 HG02895.hp2 HG02897.hp2 HG03139.hp2 HG03209.hp2 HG03486.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18980.hp1 NA18980.hp2 NA18990.hp2 NA19076.hp2 NA21309.hp1	a0003 a0007 a0003 a0007	a0003c0005 a0003c0006 a0007c0017 a0003c0005 a0003c0006 a0007c0017	a0003c0005t0004 a0003c0005t0006 a0003c0005t0008 others(4): Show a0003c0005t0004 a0003c0005t0006 a0003c0005t0008 a0003c0005t0034 a0003c0006t0006 a0003c0006t0007 a0007c0017t0006	a0003c0005t0004g0007 a0003c0005t0004g0012 a0003c0005t0004g0015 others(25): Show a0003c0005t0004g0007 a0003c0005t0004g0012 a0003c0005t0004g0015 a0003c0005t0004g0016 a0003c0005t0004g0017 a0003c0005t0004g0018 a0003c0005t0004g0019 a0003c0005t0004g0020 a0003c0005t0004g0024 a0003c0005t0004g0025 a0003c0005t0004g0027 a0003c0005t0004g0286 a0003c0005t0006g0004 a0003c0005t0006g0005 a0003c0005t0006g0023 a0003c0005t0006g0026 a0003c0005t0008g0008 a0003c0005t0008g0009 a0003c0005t0008g0010 a0003c0005t0008g0013 a0003c0005t0034g0011 a0003c0006t0006g0001 a0003c0006t0007g0002 a0003c0006t0007g0003 a0003c0006t0007g0006 a0003c0006t0007g0014 a0003c0006t0007g0021 a0007c0017t0006g0022	28	308	0.0909	-11	c.-67 others(18): Show c.-67_-57delGCGCTCCGGCC		BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/7				57	INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7790514	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01069.hp2 HG01175.hp1 others(6): Show HG00408.hp1 HG01069.hp2 HG01175.hp1 HG02071.hp2 HG04184.hp2 HG04228.hp1 NA18967.hp2 NA18979.hp2 NA19074.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 others(1): Show a0001c0001 a0001c0002 a0003c0005 a0003c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0003c0005t0006 a0003c0006t0007	a0001c0001t0001g0033 a0001c0001t0001g0060 a0001c0001t0001g0061 others(6): Show a0001c0001t0001g0033 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0126 a0001c0001t0001g0183 a0001c0002t0001g0145 a0001c0002t0002g0200 a0003c0005t0006g0005 a0003c0006t0007g0003	9	308	0.0292	-11	c.665 others(30): Show c.665-54604_665-54594delAAAAAAAAAAA		BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7813109	ATATATAT others(4): Show ATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0203 a0001c0002t0002g0203	1	308	0.0033	-11	c.665 others(30): Show c.665-32030_665-32020delTATATATATAT		BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6						chr6	TogoVar
BMP6_chr6_7721099_7886728	7822895	GGTTGTGT others(4): Show GGTTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	308	0.0033	-11	c.665 others(30): Show c.665-22242_665-22232delTGTGTGTGTGT		BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7881619	GTTGTGTG others(4): Show GTTGTGTGTACA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00621.hp2 others(62): Show HG00408.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG01081.hp2 HG01109.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01891.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp2 NA18989.hp1 NA18990.hp2 NA19030.hp2 NA19043.hp1 NA19085.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0002 a0001c0010 others(9): Show a0001c0001 a0001c0002 a0001c0010 a0001c0011 a0001c0018 a0001c0019 a0002c0003 a0002c0015 a0003c0005 a0003c0006 a0004c0007 a0007c0017	a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 others(27): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0024 a0001c0001t0026 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0002t0005 a0001c0002t0016 a0001c0002t0017 a0001c0002t0023 a0001c0010t0003 a0001c0011t0003 a0001c0018t0003 a0001c0019t0037 a0002c0003t0003 a0002c0003t0005 a0002c0015t0003 a0003c0005t0006 a0003c0005t0008 a0003c0005t0034 a0003c0006t0006 a0004c0007t0003 a0007c0017t0006	a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0074 others(62): Show a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0074 a0001c0001t0003g0078 a0001c0001t0003g0112 a0001c0001t0003g0120 a0001c0001t0003g0136 a0001c0001t0003g0146 a0001c0001t0003g0163 a0001c0001t0003g0178 a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0003g0198 a0001c0001t0003g0206 a0001c0001t0003g0225 a0001c0001t0005g0075 a0001c0001t0005g0152 a0001c0001t0011g0046 a0001c0001t0011g0048 a0001c0001t0011g0113 a0001c0001t0015g0131 a0001c0001t0015g0201 a0001c0001t0016g0053 a0001c0001t0017g0081 a0001c0001t0020g0030 a0001c0001t0020g0032 a0001c0001t0024g0300 a0001c0001t0026g0298 a0001c0001t0035g0080 a0001c0001t0036g0051 a0001c0001t0039g0029 a0001c0001t0040g0085 a0001c0002t0005g0147 a0001c0002t0005g0150 a0001c0002t0016g0052 a0001c0002t0017g0050 a0001c0002t0023g0297 a0001c0010t0003g0089 a0001c0010t0003g0104 a0001c0010t0003g0106 a0001c0011t0003g0154 a0001c0018t0003g0224 a0001c0019t0037g0073 a0002c0003t0003g0259 a0002c0003t0003g0260 a0002c0003t0003g0308 a0002c0003t0005g0238 a0002c0003t0005g0250 a0002c0003t0005g0255 a0002c0003t0005g0282 a0002c0003t0005g0302 a0002c0015t0003g0262 a0003c0005t0006g0004 a0003c0005t0006g0005 a0003c0005t0006g0023 a0003c0005t0006g0026 a0003c0005t0008g0008 a0003c0005t0008g0009 a0003c0005t0008g0010 a0003c0005t0008g0013 a0003c0005t0034g0011 a0003c0006t0006g0001 a0004c0007t0003g0076 a0004c0007t0003g0079 a0007c0017t0006g0022	65	308	0.2110	-11	c.12 others(22): Show c.1277_*1287delTTGTGTGTACA		BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	7/7				1277		chr6	TogoVar
BMP7_chr20_57163753_57271641	57230435	GCTCAGTC others(4): Show GCTCAGTCAACC	G G	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG03704.hp1 others(1): Show HG01516.hp2 HG01517.hp2 HG03704.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0005 a0001c0001t0001g0136 a0001c0001t0020g0214 a0001c0001t0001g0005 a0001c0001t0001g0136 a0001c0001t0020g0214	4	272	0.0147	-11	c.419 others(28): Show c.419-2025_419-2015delGGTTGACTGAG		BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	1/6						chr20	TogoVar
BMPER_chr7_33900539_34161427	34028601	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0105 a0001c0003t0007g0105	1	232	0.0043	-11	c.577 others(30): Show c.577-17683_577-17673delTTTTTTTTTTT		BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPR1A_chr10_86751619_86932969	86835549	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01192.hp2 HG02258.hp2 others(3): Show HG00673.hp1 HG01192.hp2 HG02258.hp2 HG03540.hp1 NA18969.hp1 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0007 a0001c0002 a0004c0007	a0001c0002t0003 a0001c0002t0017 a0001c0002t0033 others(3): Show a0001c0002t0003 a0001c0002t0017 a0001c0002t0033 a0001c0002t0037 a0001c0002t0040 a0004c0007t0010	a0001c0002t0003g0120 a0001c0002t0017g0104 a0001c0002t0033g0270 others(3): Show a0001c0002t0003g0120 a0001c0002t0017g0104 a0001c0002t0033g0270 a0001c0002t0037g0160 a0001c0002t0040g0038 a0004c0007t0010g0016	6	278	0.0216	-11	c.-26 others(30): Show c.-267-3287_-267-3277delAAAAAAAAAAA		BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86884394	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02809.hp1 NA18522.hp1 HG01433.hp1 HG02809.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0062 a0001c0002t0064 a0001c0002t0007 a0001c0002t0062 a0001c0002t0064	a0001c0002t0007g0026 a0001c0002t0062g0137 a0001c0002t0064g0037 a0001c0002t0007g0026 a0001c0002t0062g0137 a0001c0002t0064g0037	3	278	0.0108	-11	c.68- others(26): Show c.68-5641_68-5631delTTTTTTTTTTT		BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86906723	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18971.hp2 HG03130.hp1 NA18971.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0178 a0002c0001t0001g0230 a0002c0001t0001g0178 a0002c0001t0001g0230	2	278	0.0072	-11	c.531 others(28): Show c.531-5488_531-5478delAAAAAAAAAAA		BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86919684	TTTTTTTG others(4): Show TTTTTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0066 a0001c0002t0066	a0001c0002t0066g0211 a0001c0002t0066g0211	1	278	0.0036	-11	c.116 others(28): Show c.1166+226_1166+236delGTTTTTTGTTT		BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86926066	AAAATTAC others(4): Show AAAATTACAGCC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG01168.hp2 HG01169.hp1 others(14): Show HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01884.hp1 HG02109.hp2 HG02559.hp2 HG02615.hp1 HG02922.hp2 HG02965.hp2 HG03130.hp2 HG03195.hp2 HG03471.hp1 HG03579.hp2 NA19030.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0006 a0001c0002t0023 a0001c0002t0035 others(2): Show a0001c0002t0006 a0001c0002t0023 a0001c0002t0035 a0001c0002t0051 a0001c0006t0079	a0001c0002t0006g0011 a0001c0002t0006g0025 a0001c0002t0006g0125 others(14): Show a0001c0002t0006g0011 a0001c0002t0006g0025 a0001c0002t0006g0125 a0001c0002t0006g0126 a0001c0002t0006g0129 a0001c0002t0006g0130 a0001c0002t0006g0132 a0001c0002t0006g0163 a0001c0002t0006g0193 a0001c0002t0006g0253 a0001c0002t0023g0002 a0001c0002t0023g0127 a0001c0002t0023g0128 a0001c0002t0035g0131 a0001c0002t0035g0134 a0001c0002t0051g0136 a0001c0006t0079g0161	17	278	0.0612	-11	c.23 others(22): Show c.2349_*2359delAATTACAGCCA		BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	13/13				2349	INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1B_chr4_94752955_95163448	94770180	GTGTTTGT others(4): Show GTGTTTGTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00558.hp1 others(97): Show HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01071.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02148.hp2 HG02257.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03017.hp1 HG03130.hp2 HG03139.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04204.hp2 NA18522.hp1 NA18612.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18988.hp1 NA18992.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19070.hp2 NA19090.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0044 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0002t0021	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(97): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0048 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0159 a0001c0001t0001g0172 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0002g0009 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0062 a0001c0001t0002g0068 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0092 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0144 a0001c0001t0002g0169 a0001c0001t0002g0218 a0001c0001t0002g0224 a0001c0001t0003g0047 a0001c0001t0004g0003 a0001c0001t0004g0045 a0001c0001t0004g0054 a0001c0001t0004g0063 a0001c0001t0004g0078 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0094 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0211 a0001c0001t0005g0056 a0001c0001t0005g0073 a0001c0001t0005g0096 a0001c0001t0005g0111 a0001c0001t0005g0132 a0001c0001t0005g0168 a0001c0001t0006g0005 a0001c0001t0006g0010 a0001c0001t0006g0049 a0001c0001t0006g0075 a0001c0001t0006g0115 a0001c0001t0006g0170 a0001c0001t0006g0225 a0001c0001t0007g0019 a0001c0001t0007g0025 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0007g0065 a0001c0001t0007g0114 a0001c0001t0008g0041 a0001c0001t0008g0058 a0001c0001t0008g0207 a0001c0001t0009g0026 a0001c0001t0009g0070 a0001c0001t0009g0071 a0001c0001t0010g0213 a0001c0001t0011g0024 a0001c0001t0012g0040 a0001c0001t0012g0171 a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0014g0212 a0001c0001t0015g0023 a0001c0001t0016g0178 a0001c0001t0017g0206 a0001c0001t0018g0055 a0001c0001t0022g0052 a0001c0001t0022g0108 a0001c0001t0023g0216 a0001c0001t0025g0074 a0001c0001t0027g0082 a0001c0001t0038g0051 a0001c0001t0039g0223 a0001c0001t0041g0118 a0001c0001t0044g0086 a0001c0001t0054g0093 a0001c0001t0056g0053 a0001c0001t0057g0008 a0001c0001t0059g0124 a0001c0001t0060g0125 a0001c0002t0021g0217	100	226	0.4425	-11	c.-18 others(32): Show c.-183+12114_-183+12124delGTTTGTTTTTT		BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94821438	TATATTCT others(4): Show TATATTCTATAA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0184 a0001c0001t0058g0184	1	226	0.0044	-11	c.-18 others(32): Show c.-182-54387_-182-54377delCTATAAATATT		BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94926065	ATCCCTCC others(4): Show ATCCCTCCCGTC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00738.hp1 others(64): Show HG00280.hp1 HG00639.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01891.hp2 HG01952.hp1 HG01978.hp1 HG02027.hp2 HG02056.hp1 HG02080.hp2 HG02148.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp1 HG02698.hp2 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03139.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG04204.hp2 NA18612.hp1 NA18942.hp2 NA18943.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA19070.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0004c0005t0034	a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0066 others(64): Show a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0116 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0002g0138 a0001c0001t0002g0156 a0001c0001t0002g0210 a0001c0001t0003g0143 a0001c0001t0003g0195 a0001c0001t0004g0003 a0001c0001t0004g0063 a0001c0001t0004g0211 a0001c0001t0005g0056 a0001c0001t0005g0096 a0001c0001t0005g0132 a0001c0001t0005g0151 a0001c0001t0005g0162 a0001c0001t0005g0168 a0001c0001t0005g0186 a0001c0001t0005g0199 a0001c0001t0005g0201 a0001c0001t0006g0115 a0001c0001t0006g0160 a0001c0001t0006g0177 a0001c0001t0006g0225 a0001c0001t0007g0019 a0001c0001t0008g0041 a0001c0001t0009g0070 a0001c0001t0009g0071 a0001c0001t0009g0179 a0001c0001t0010g0192 a0001c0001t0010g0213 a0001c0001t0012g0040 a0001c0001t0012g0166 a0001c0001t0015g0203 a0001c0001t0016g0178 a0001c0001t0016g0200 a0001c0001t0018g0030 a0001c0001t0018g0055 a0001c0001t0019g0165 a0001c0001t0020g0011 a0001c0001t0025g0074 a0001c0001t0027g0082 a0001c0001t0030g0141 a0001c0001t0032g0175 a0001c0001t0033g0205 a0001c0001t0035g0198 a0001c0001t0040g0142 a0001c0001t0042g0176 a0001c0001t0043g0193 a0004c0005t0034g0140	67	226	0.2965	-11	c.-11 others(32): Show c.-113+50174_-113+50184delGTCTCCCTCCC		BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94957333	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02723.hp1 others(5): Show HG02486.hp2 HG02559.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp1 HG03540.hp2 NA18522.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0023 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0023 a0001c0002t0021 a0002c0003t0017	a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0002g0218 others(5): Show a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0002g0218 a0001c0001t0002g0224 a0001c0001t0023g0038 a0001c0001t0023g0216 a0001c0002t0021g0217 a0002c0003t0017g0131	8	226	0.0354	-11	c.-11 others(32): Show c.-112-38690_-112-38680delTTTTTTTTTTT		BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94970275	TCTTCTCT others(4): Show TCTTCTCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	226	0.0044	-11	c.-11 others(32): Show c.-112-25764_-112-25754delCTTCTCTTCTC		BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12						chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95049419	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02615.hp1 HG03209.hp1 others(6): Show HG01175.hp2 HG02615.hp1 HG03209.hp1 HG03540.hp1 HG03579.hp2 HG04115.hp2 HG06807.hp1 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0052	a0001c0001t0002g0037 a0001c0001t0002g0183 a0001c0001t0005g0022 others(6): Show a0001c0001t0002g0037 a0001c0001t0002g0183 a0001c0001t0005g0022 a0001c0001t0008g0207 a0001c0001t0008g0209 a0001c0001t0010g0208 a0001c0001t0012g0171 a0001c0001t0020g0130 a0001c0001t0052g0196	9	226	0.0398	-11	c.-18 others(30): Show c.-18+53326_-18+53336delTTTTTTTTTTT		BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95155475	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00558.hp2 others(61): Show HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02148.hp2 HG02257.hp1 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG02965.hp1 HG03017.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp2 HG04204.hp1 NA18946.hp1 NA18992.hp1 NA19056.hp1 NA19060.hp2 NA19070.hp2 NA19090.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0022 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0061 a0003c0004t0003	a0001c0001t0002g0009 a0001c0001t0002g0037 a0001c0001t0002g0042 others(61): Show a0001c0001t0002g0009 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0092 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0138 a0001c0001t0002g0144 a0001c0001t0002g0156 a0001c0001t0002g0161 a0001c0001t0002g0169 a0001c0001t0002g0183 a0001c0001t0002g0187 a0001c0001t0002g0210 a0001c0001t0002g0218 a0001c0001t0002g0224 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0047 a0001c0001t0003g0064 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0107 a0001c0001t0003g0123 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0003g0164 a0001c0001t0003g0195 a0001c0001t0004g0003 a0001c0001t0004g0045 a0001c0001t0004g0054 a0001c0001t0004g0063 a0001c0001t0004g0078 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0094 a0001c0001t0004g0104 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0136 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0211 a0001c0001t0022g0052 a0001c0001t0022g0108 a0001c0001t0052g0196 a0001c0001t0053g0137 a0001c0001t0054g0093 a0001c0001t0056g0053 a0001c0001t0061g0100 a0003c0004t0003g0029	64	226	0.2832	-11	c.82 others(20): Show c.824_*834delTTTTTTTTTTT		BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	13/13				824	INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95160578	CCCTTCCT others(4): Show CCCTTCCTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01167.hp1 HG01167.hp2 others(15): Show HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01884.hp1 HG01891.hp1 HG02027.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02809.hp1 HG02976.hp1 HG03130.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 NA18944.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 others(7): Show a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0047	a0001c0001t0010g0018 a0001c0001t0010g0046 a0001c0001t0010g0192 others(15): Show a0001c0001t0010g0018 a0001c0001t0010g0046 a0001c0001t0010g0192 a0001c0001t0010g0208 a0001c0001t0010g0213 a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0013g0202 a0001c0001t0014g0194 a0001c0001t0014g0212 a0001c0001t0014g0221 a0001c0001t0019g0165 a0001c0001t0039g0223 a0001c0001t0040g0142 a0001c0001t0041g0118 a0001c0001t0042g0176 a0001c0001t0044g0086 a0001c0001t0047g0001	18	226	0.0797	-11	c.59 others(22): Show c.5906_*5916delCCTTCCTCCCT		BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding					2131		chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95160592	TTCCTCCC others(4): Show TTCCTCCCTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0193 a0001c0001t0043g0193	1	226	0.0044	-11	c.59 others(22): Show c.5920_*5930delTCCTCCCTCCC		BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding					2145		chr4	TogoVar
BMPR2_chr2_202371327_202572749	202373158	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03225.hp1 HG03209.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0198 a0001c0001t0001g0100 a0001c0001t0001g0198	2	224	0.0089	-11	c.-43 others(22): Show c.-4316_-4306delTTTTTTTTTTT		BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding					3168		chr2	TogoVar
BMPR2_chr2_202371327_202572749	202380965	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0045	1	224	0.0045	-11	c.76+ others(26): Show c.76+3432_76+3442delTTTTTTTTTTT		BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434901	AAAAAAAA others(4): Show AAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG02109.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0073 a0001c0001t0005g0158 a0001c0001t0005g0073 a0001c0001t0005g0158	2	224	0.0089	-11	c.77- others(28): Show c.77-29906_77-29896delAAAAAAATATA		BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202456063	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0161 a0001c0001t0004g0161	1	224	0.0045	-11	c.77- others(26): Show c.77-8717_77-8707delAAAAAAAAAAA		BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)