Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BLM_chr15_90712346_90821166	90778889	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02970.hp2 others(1): Show HG02145.hp1 HG02280.hp1 HG02970.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0010t0001 a0001c0002t0001 a0001c0010t0001	a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0010t0001g0042 others(1): Show a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0010t0001g0042 a0001c0010t0001g0043	4	280	0.0143	17	c.255 others(36): Show c.2556-3919_2556-3918insTTTTTTTTTTTTTTTTT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLNK_chr10_96184171_96276569	96194768	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0246 a0001c0001t0032g0246	1	322	0.0031	17	c.125 others(36): Show c.1251+2123_1251+2139dupAAAAAAAAAAAAAAAAA	BLNK	ENSG00000095585.18	transcript	ENST00000224337.10	protein_coding	16/16			chr10	TogoVar
BLOC1S5_chr6_8008567_8069389	8030865	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0283 a0001c0001t0005g0283	1	364	0.0028	17	c.326 others(34): Show c.326-4441_326-4440insTTTTTTTTTTTTTTTTT	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	3/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8041655	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	364	0.0028	17	c.196 others(32): Show c.196-388_196-387insAAAAAAAAAGAAAGAAA	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8053935	A A	ATCCAAAA others(10): Show ATCCAAAATCTGAAATGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(157): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03491.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18955.hp2 NA18957.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18988.hp2 NA18995.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19082.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19240.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(149): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0003g0214 a0001c0001t0003g0273 a0001c0001t0004g0262 a0001c0001t0004g0269 a0001c0001t0006g0196 a0001c0001t0006g0197 a0001c0001t0006g0198 a0001c0001t0006g0199 a0001c0001t0006g0200 a0001c0001t0006g0201 a0001c0001t0006g0202 a0001c0001t0008g0081 a0001c0001t0008g0082 a0001c0001t0008g0083 a0001c0001t0010g0173 a0001c0001t0011g0176 a0001c0001t0012g0168 a0001c0001t0013g0291 a0001c0001t0014g0042 a0001c0001t0015g0258 a0003c0003t0001g0097	160	364	0.4396	17	c.195 others(34): Show c.195+8582_195+8598dupGCATTTCAGATTTTGGA	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLTP1_chr4_122147331_122367752	122267051	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0103 a0001c0037t0001g0103	1	336	0.0030	17	c.749 others(34): Show c.7493+102_7493+118dupTTTTTTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	46/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122321979	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02074.hp2 HG02523.hp2 others(5): Show HG01884.hp1 HG02074.hp2 HG02523.hp2 NA18951.hp2 NA18974.hp1 NA18986.hp1 NA18993.hp1 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0002c0004t0001	a0001c0001t0001g0187 a0001c0001t0001g0276 a0001c0001t0001g0277 others(5): Show a0001c0001t0001g0187 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0003g0260 a0001c0003t0001g0235 a0001c0003t0001g0236 a0002c0004t0001g0139 a0002c0004t0001g0154	8	336	0.0238	17	c.109 others(38): Show c.10996-2428_10996-2412dupTTTTTTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	64/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP3A_chr6_34787083_34882514	34801791	C C	CGCTCACT others(10): Show CGCTCACTGCAAACTCTG	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18952.hp2 NA19063.hp2 HG02083.hp1 NA18952.hp2 NA19063.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0102 a0003c0003t0003g0103 a0003c0003t0003g0104 a0003c0003t0003g0102 a0003c0003t0003g0103 a0003c0003t0003g0104	3	312	0.0096	17	c.44+ others(32): Show c.44+9508_44+9509insACTCTGGCTCACTGCAA	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3B_chr12_100032072_100147874	100140719	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	188	0.0053	17	c.44+ others(32): Show c.44+1872_44+1873insATATATATATATATATA	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100140721	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	188	0.0053	17	c.44+ others(32): Show c.44+1870_44+1871insATATATATATATATATA	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100140723	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0097 a0003c0002t0001g0097	1	188	0.0053	17	c.44+ others(32): Show c.44+1868_44+1869insATATATATATATATATA	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0004 a0011c0011t0001g0004	1	188	0.0053	17	c.44+ others(32): Show c.44+1862_44+1863insATATATATATATATATA	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLVRA_chr7_43753680_43812342	43778433	G G	GCAGCGGT others(10): Show GCAGCGGTGGCTGCAGTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0279 a0002c0003t0001g0279	1	414	0.0024	17	c.12+ others(32): Show c.12+7276_12+7292dupCAGTACAGCGGTGGCTG	BLVRA	ENSG00000106605.11	transcript	ENST00000265523.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BLZF1_chr1_169363195_169393305	169364516	G G	GGTCACAT others(10): Show GGTCACATATGCCTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	366	0.0027	17	c.-38 others(28): Show c.-3877_-3876insGTCACATATGCCTCTTC	BLZF1	ENSG00000117475.14	transcript	ENST00000367808.8	protein_coding		3678		chr1	TogoVar
BMAL2_chr12_27327836_27430286	27348756	C C	CTCAATTA others(10): Show CTCAATTATTGAGTGTGG	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	310	0.0032	17	c.31+ others(34): Show c.31+15654_31+15670dupTCAATTATTGAGTGTGG	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMAL2_chr12_27327836_27430286	27360803	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01099.hp2 HG06807.hp1 others(1): Show HG00438.hp1 HG01099.hp2 HG06807.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013	a0001c0001t0001g0172 a0001c0001t0002g0162 a0001c0001t0004g0192 others(1): Show a0001c0001t0001g0172 a0001c0001t0002g0162 a0001c0001t0004g0192 a0001c0001t0013g0193	4	310	0.0129	17	c.32- others(32): Show c.32-7453_32-7437dupAAAAAAAAAAAAAAAAA	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMERB1_chr16_15429588_15593259	15444123	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02155.hp2 HG02717.hp2 others(8): Show HG02145.hp2 HG02155.hp2 HG02717.hp2 HG02809.hp1 HG03041.hp2 NA18957.hp1 NA18979.hp2 NA19007.hp1 NA19009.hp1 NA19066.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0005t0001 a0002c0003t0001	a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0002g0197 others(8): Show a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0002g0197 a0001c0001t0004g0196 a0001c0001t0004g0213 a0001c0002t0001g0029 a0001c0002t0001g0058 a0001c0002t0001g0156 a0001c0005t0001g0081 a0001c0005t0001g0082 a0002c0003t0001g0083	11	291	0.0378	17	c.106 others(34): Show c.106+9375_106+9391dupTTTTTTTTTTTTTTTTT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMF_chr15_40082890_40113879	40106552	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	414	0.0024	17	c.-5- others(30): Show c.-5-462_-5-461insGTGTGTGTGTGTGTGTG	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding	2/4			chr15	TogoVar
BMP1_chr8_22160372_22206482	22186854	T T	TAAAACCG others(10): Show TAAAACCGTCTCCTCCTC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0087 a0001c0012t0001g0087	1	418	0.0024	17	c.107 others(36): Show c.1078-5193_1078-5177dupAAACCGTCTCCTCCTCA	BMP1	ENSG00000168487.20	transcript	ENST00000306349.13	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22217326	22186854	T T	TAAAACCG others(10): Show TAAAACCGTCTCCTCCTC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	408	0.0025	17	c.107 others(36): Show c.1078-5193_1078-5177dupAAACCGTCTCCTCCTCA	BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP2K_chr4_78771350_78921365	78829782	T T	TTTCTCTT others(10): Show TTTCTCTTTTCTCTTCTC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	204	0.0049	17	c.297 others(34): Show c.297+3631_297+3632insCTTTTCTCTTCTCTTCT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78829787	T T	TTTCTCTT others(10): Show TTTCTCTTTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG02165.hp2 others(6): Show HG00735.hp2 HG01109.hp2 HG02165.hp2 HG02896.hp2 HG03098.hp2 HG04204.hp2 NA18995.hp1 NA19057.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0018t0003	a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0003g0007 others(6): Show a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0003g0007 a0001c0001t0003g0011 a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0068 a0001c0001t0017g0006 a0001c0018t0003g0008	9	204	0.0441	17	c.297 others(34): Show c.297+3639_297+3640insTTCTCTTCTCTTCTCTT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP3_chr4_81025708_81062627	81032194	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0066 a0001c0001t0007g0066	1	382	0.0026	17	c.316 others(32): Show c.316+604_316+620dupAAAAAAAAAAAAAAAAA	BMP3	ENSG00000152785.8	transcript	ENST00000282701.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP6_chr6_7721099_7886728	7813086	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	308	0.0033	17	c.665 others(36): Show c.665-32047_665-32031dupAAAAAAAAAAAAAAAAA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7813108	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	308	0.0033	17	c.665 others(36): Show c.665-32031_665-32030insAAAAAAAAAAAAATATA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7813108	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02809.hp1 NA19079.hp2 HG02300.hp2 HG02809.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0083 a0001c0001t0001g0216 a0001c0001t0001g0044 a0001c0001t0001g0083 a0001c0001t0001g0216	3	308	0.0097	17	c.665 others(36): Show c.665-32031_665-32030insAAAAAAAAAAATATATA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7813108	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp2 HG00639.hp1 HG01069.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0126 a0002c0003t0001g0292 a0001c0001t0001g0126 a0002c0003t0001g0292	2	308	0.0065	17	c.665 others(36): Show c.665-32031_665-32030insAAAAAAAAATATATATA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7813108	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0167 a0001c0002t0010g0167	1	308	0.0033	17	c.665 others(36): Show c.665-32031_665-32030insAAAAAAATATATATATA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7813108	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0098 a0001c0002t0002g0098	1	308	0.0033	17	c.665 others(36): Show c.665-32031_665-32030insAAAAATATATATATATA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7813108	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0030 a0001c0001t0020g0030	1	308	0.0033	17	c.665 others(36): Show c.665-32031_665-32030insATATATATATATATATA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7856595	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG01069.hp1 others(29): Show HG00597.hp2 HG00639.hp1 HG01069.hp1 HG01074.hp1 HG01257.hp2 HG01258.hp1 HG01496.hp1 HG01515.hp2 HG01934.hp1 HG01975.hp1 HG02055.hp1 HG02148.hp2 HG02300.hp2 HG02523.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03490.hp1 HG03540.hp1 HG04184.hp1 HG04228.hp2 NA18939.hp2 NA18960.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp2 NA19030.hp1 NA19056.hp2 NA19060.hp2 NA19074.hp2 NA19085.hp2 NA20129.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0008c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0041 a0001c0002t0002 a0002c0003t0001 a0002c0004t0002 a0008c0016t0001	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0121 others(29): Show a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0002g0135 a0001c0001t0003g0120 a0001c0001t0003g0163 a0001c0001t0003g0190 a0001c0001t0003g0206 a0001c0001t0009g0306 a0001c0001t0009g0307 a0001c0001t0012g0192 a0001c0001t0014g0070 a0001c0001t0041g0031 a0001c0002t0002g0092 a0001c0002t0002g0191 a0002c0003t0001g0231 a0002c0003t0001g0258 a0002c0003t0001g0265 a0002c0003t0001g0280 a0002c0003t0001g0292 a0002c0004t0002g0271 a0008c0016t0001g0101	32	308	0.1039	17	c.858 others(34): Show c.858-4853_858-4837dupTTTTTTTTTTTTTTTTT	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7856614	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0055 a0001c0001t0009g0055	1	308	0.0033	17	c.858 others(34): Show c.858-4837_858-4836insTTTTTTTTTTTTTTTTG	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	2/6			chr6	TogoVar
BMP7_chr20_57163753_57271641	57218418	T T	TTGTTTGG others(10): Show TTGTTTGGTGGTAGCTGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01496.hp1 HG03209.hp2 others(5): Show HG00558.hp2 HG01496.hp1 HG03209.hp2 HG03471.hp2 NA18947.hp1 NA18957.hp2 NA18963.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0024	a0001c0001t0001g0101 a0001c0001t0001g0217 a0001c0001t0002g0004 others(4): Show a0001c0001t0001g0101 a0001c0001t0001g0217 a0001c0001t0002g0004 a0001c0001t0002g0106 a0001c0001t0002g0210 a0001c0001t0003g0031 a0001c0001t0024g0041	8	272	0.0294	17	c.611 others(34): Show c.611+9794_611+9810dupCCAGCTACCACCAAACA	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	2/6			chr20	TogoVar
BMPER_chr7_33900539_34161427	34024357	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0175 a0001c0001t0029g0175	1	232	0.0043	17	c.577 others(36): Show c.577-21940_577-21924dupAAAAAAAAAAAAAAAAA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPR1A_chr10_86751619_86932969	86790188	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0233 a0002c0001t0001g0233	1	278	0.0036	17	c.-26 others(38): Show c.-268+33270_-268+33271insAAAAAAAAAAATATATA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86799506	C C	CTTCCTTC others(10): Show CTTCCTTCCTTCCTTTCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0271 a0001c0002t0007g0271	1	278	0.0036	17	c.-26 others(38): Show c.-267-39357_-267-39356insCCTTCCTTCCTTTCTTT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86906723	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0256 a0002c0001t0002g0256	1	278	0.0036	17	c.531 others(34): Show c.531-5494_531-5478dupAAAAAAAAAAAAAAAAA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86925721	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02622.hp1 others(1): Show HG02280.hp1 HG02559.hp1 HG02622.hp1 NA18994.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0034 a0002c0001t0044 a0002c0001t0068 a0002c0001t0034 a0002c0001t0044 a0002c0001t0068	a0002c0001t0034g0147 a0002c0001t0034g0148 a0002c0001t0044g0078 others(1): Show a0002c0001t0034g0147 a0002c0001t0034g0148 a0002c0001t0044g0078 a0002c0001t0068g0146	4	278	0.0144	17	c.20 others(28): Show c.2003_*2019dupTTTTTTTTTTTTTTTTT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	13/13	2020	INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1B_chr4_94752955_95163448	94834646	G G	GTGTAGAA others(10): Show GTGTAGAAAATGAAATTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG00738.hp2 others(20): Show HG00639.hp2 HG00642.hp2 HG00738.hp2 HG01099.hp2 HG01106.hp1 HG01175.hp1 HG01361.hp1 HG01981.hp1 HG02055.hp2 HG02280.hp2 HG02615.hp1 HG02622.hp2 HG02895.hp2 HG03017.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03688.hp1 HG04115.hp2 NA19030.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0001t0019 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0053 a0001c0001t0059 a0001c0001t0060	a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 others(20): Show a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0002g0037 a0001c0001t0002g0119 a0001c0001t0002g0187 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0064 a0001c0001t0003g0098 a0001c0001t0003g0107 a0001c0001t0008g0207 a0001c0001t0008g0209 a0001c0001t0010g0208 a0001c0001t0017g0206 a0001c0001t0019g0109 a0001c0001t0047g0001 a0001c0001t0049g0085 a0001c0001t0050g0020 a0001c0001t0053g0137 a0001c0001t0059g0124 a0001c0001t0060g0125	23	226	0.1018	17	c.-18 others(38): Show c.-182-41180_-182-41179insAAAATGAAATTCTGTAG	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94908093	A A	AAAAAAAA others(10): Show AAAAAAAAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03041.hp1 HG03486.hp1 HG02258.hp1 HG03041.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017	a0001c0001t0011g0191 a0001c0001t0013g0202 a0001c0001t0017g0039 a0001c0001t0011g0191 a0001c0001t0013g0202 a0001c0001t0017g0039	3	226	0.0133	17	c.-11 others(38): Show c.-113+32197_-113+32198insAAAAAAGAAAAAGAAAA	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR2_chr2_202371327_202572749	202384569	T T	TTTCTTTC others(10): Show TTTCTTTCTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00741.hp1 others(19): Show HG00099.hp2 HG00140.hp1 HG00741.hp1 HG01069.hp1 HG01255.hp2 HG01928.hp2 HG01978.hp1 HG02071.hp2 HG02080.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02559.hp1 HG02622.hp2 HG03098.hp1 HG03130.hp2 HG03471.hp2 HG03669.hp2 HG03704.hp2 NA19082.hp1 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0029	a0001c0001t0001g0008 a0001c0001t0001g0086 a0001c0001t0001g0087 others(19): Show a0001c0001t0001g0008 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0127 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0003g0022 a0001c0001t0003g0026 a0001c0001t0003g0210 a0001c0001t0005g0015 a0001c0001t0008g0205 a0001c0001t0008g0206 a0001c0001t0015g0023 a0001c0001t0015g0028 a0001c0001t0017g0090 a0001c0001t0021g0138 a0001c0001t0022g0042 a0001c0001t0027g0140 a0001c0001t0029g0105	22	224	0.0982	17	c.76+ others(32): Show c.76+7021_76+7022insCTTTCTTTTTCTTTCTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434908	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18994.hp1 HG00423.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0012 a0001c0002t0002 a0001c0002t0012	a0001c0002t0002g0146 a0001c0002t0012g0056 a0001c0002t0002g0146 a0001c0002t0012g0056	2	224	0.0089	17	c.77- others(34): Show c.77-29900_77-29899insAAAAATATATATATATA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434908	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02273.hp2 HG00140.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0002 a0001c0001t0015 a0001c0002t0002	a0001c0001t0015g0023 a0001c0002t0002g0048 a0001c0001t0015g0023 a0001c0002t0002g0048	2	224	0.0089	17	c.77- others(34): Show c.77-29900_77-29899insAAATATATATATATATA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434908	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0035 a0001c0002t0002g0035	1	224	0.0045	17	c.77- others(34): Show c.77-29900_77-29899insATATATATATATATATA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202485545	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00558.hp2 others(25): Show HG00099.hp2 HG00140.hp1 HG00558.hp2 HG00609.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01106.hp2 HG01433.hp2 HG01517.hp2 HG01978.hp2 HG02027.hp1 HG02132.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02698.hp2 HG03041.hp2 HG03195.hp2 HG03710.hp2 NA18906.hp1 NA18941.hp2 NA18945.hp1 NA18952.hp2 NA18966.hp2 NA18970.hp2 NA19062.hp2 NA19087.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0003 a0004c0007 others(1): Show a0001c0001 a0002c0003 a0004c0007 a0005c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0028 a0001c0001t0032 a0001c0001t0042 a0002c0003t0001 a0004c0007t0001 a0005c0004t0037	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0086 others(25): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0086 a0001c0001t0001g0113 a0001c0001t0001g0139 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0005g0154 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0007g0102 a0001c0001t0007g0121 a0001c0001t0007g0166 a0001c0001t0028g0003 a0001c0001t0032g0182 a0001c0001t0042g0191 a0002c0003t0001g0004 a0002c0003t0001g0006 a0004c0007t0001g0112 a0005c0004t0037g0135	28	224	0.1250	17	c.418 others(36): Show c.418+17859_418+17875dupTTTTTTTTTTTTTTTTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202504678	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0120 a0001c0001t0031g0120	1	224	0.0045	17	c.419 others(34): Show c.419-9036_419-9020dupTTTTTTTTTTTTTTTTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202534967	C C	CCCTCCCG others(10): Show CCCTCCCGGACGGGGCGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01261.hp1 HG02109.hp1 others(11): Show HG01243.hp1 HG01261.hp1 HG02109.hp1 HG02451.hp2 HG02559.hp1 HG02723.hp1 HG02723.hp2 HG02896.hp2 HG03098.hp1 HG03209.hp2 HG03540.hp2 HG03710.hp2 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 others(4): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0022 a0001c0001t0023 a0001c0001t0036	a0001c0001t0005g0015 a0001c0001t0005g0141 a0001c0001t0005g0224 others(11): Show a0001c0001t0005g0015 a0001c0001t0005g0141 a0001c0001t0005g0224 a0001c0001t0007g0097 a0001c0001t0007g0147 a0001c0001t0010g0037 a0001c0001t0010g0039 a0001c0001t0010g0040 a0001c0001t0010g0041 a0001c0001t0011g0043 a0001c0001t0011g0083 a0001c0001t0022g0042 a0001c0001t0023g0038 a0001c0001t0036g0036	14	224	0.0625	17	c.127 others(36): Show c.1276+2236_1276+2237insCTCCCGGACGGGGCGGC	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202572271	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02055.hp1 HG02257.hp2 others(2): Show HG01255.hp2 HG02055.hp1 HG02257.hp2 HG02622.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0048 others(1): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0048 a0001c0001t0050	a0001c0001t0003g0022 a0001c0001t0014g0033 a0001c0001t0014g0144 others(2): Show a0001c0001t0003g0022 a0001c0001t0014g0033 a0001c0001t0014g0144 a0001c0001t0048g0013 a0001c0001t0050g0017	5	224	0.0223	17	c.12 others(30): Show c.12325_*12326insTTTTTTTTTTTTTTTTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding		4523		chr2	TogoVar
BMT2_chr7_112814147_112944875	112902416	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA19076.hp1 HG01975.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0183 a0001c0001t0001g0132 a0001c0001t0001g0183	2	206	0.0097	17	c.303 others(34): Show c.303-6678_303-6677insTTTTTTTTTTTTTTTTT	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	2/4			chr7	TogoVar
BNC2_chr9_16404503_16875670	16560984	T T	TCCCAGCA others(10): Show TCCCAGCACTTTGGGAGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0092 a0001c0016t0092	a0001c0016t0092g0086 a0001c0016t0092g0086	1	176	0.0057	17	c.434 others(34): Show c.434-8236_434-8220dupCCTCCCAAAGTGCTGGG	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	4/6			chr9	TogoVar

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