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
BIRC6_chr2_32352023_32623878	32473706	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0087 a0002c0002t0002g0087	1	274	0.0037	-14	c.672 others(31): Show c.6720+498_6720+511delGTGTGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	33/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32504034	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19088.hp1 HG06807.hp2 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0003 a0001c0007t0006 a0001c0003t0003 a0001c0007t0006	a0001c0003t0003g0129 a0001c0007t0006g0185 a0001c0003t0003g0129 a0001c0007t0006g0185	2	274	0.0073	-14	c.949 others(31): Show c.9499+828_9499+841delGTGTGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	49/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32553197	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02280.hp2 others(2): Show HG01884.hp2 HG02258.hp1 HG02280.hp2 HG02572.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0006 a0001c0001t0001 a0001c0007t0006	a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0197 others(2): Show a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0007t0006g0185	5	274	0.0183	-14	c.131 others(35): Show c.13144+3740_13144+3753delAAAAAAAAAAAAAA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	65/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32586423	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0002 a0009c0029t0002	a0009c0029t0002g0181 a0009c0029t0002g0181	1	274	0.0037	-14	c.133 others(35): Show c.13356-7478_13356-7465delTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	66/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BLK_chr8_11489387_11569599	11504363	GGAAGAAA others(7): Show GGAAGAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0269 a0001c0001t0005g0269	1	308	0.0033	-14	c.-2+ others(29): Show c.-2+9773_-2+9786delGAAGAAAGAAAAGA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12			chr8	TogoVar
BLK_chr8_11489387_11569599	11526770	TGTGTTTC others(7): Show TGTGTTTCATCAGTA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0008 a0003c0008t0008	a0003c0008t0008g0293 a0003c0008t0008g0293	1	308	0.0033	-14	c.-1- others(31): Show c.-1-16452_-1-16439delTGTTTCATCAGTAG	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLK_chr8_11489387_11569599	11535310	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00673.hp1 others(18): Show HG00408.hp2 HG00544.hp1 HG00673.hp1 HG01981.hp1 HG02083.hp1 HG02155.hp1 HG03098.hp1 HG03130.hp1 NA18951.hp1 NA18953.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18972.hp2 NA18982.hp2 NA18999.hp2 NA19005.hp1 NA19007.hp2 NA19056.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0003t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0007 a0001c0004t0007	a0001c0001t0001g0128 a0001c0001t0001g0189 a0001c0001t0001g0193 others(15): Show a0001c0001t0001g0128 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0219 a0001c0001t0002g0001 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0071 a0001c0003t0007g0003 a0001c0003t0007g0048 a0001c0003t0007g0059 a0001c0004t0007g0044	21	308	0.0682	-14	c.-1- others(29): Show c.-1-7909_-1-7896delAGAAAGAAAGAGAA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLMH_chr17_30243203_30296944	30268332	CTCCCTTA others(7): Show CTCCCTTATAGGGAT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	298	0.0034	-14	c.114 others(33): Show c.1147-1392_1147-1379delATCCCTATAAGGGA	BLMH	ENSG00000108578.15	transcript	ENST00000261714.11	protein_coding	10/11			chr17	TogoVar
BLM_chr15_90712346_90821166	90734696	CAGAGAGA others(7): Show CAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02615.hp2 HG02630.hp2 others(6): Show HG02145.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG03139.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0004c0012 a0006c0013	a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 a0004c0012t0002 a0006c0013t0001	a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0271 others(6): Show a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0002t0001g0268 a0001c0010t0001g0041 a0001c0010t0001g0042 a0001c0010t0001g0043 a0004c0012t0002g0266 a0006c0013t0001g0269	9	280	0.0321	-14	c.-4- others(31): Show c.-4-12669_-4-12656delGAGAGAGAGAGAGA	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLM_chr15_90712346_90821166	90735236	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	280	0.0036	-14	c.-4- others(31): Show c.-4-12130_-4-12117delATATATATATATAT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLM_chr15_90712346_90821166	90787036	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03654.hp1 HG03239.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0113 a0001c0001t0001g0051 a0001c0001t0001g0113	2	280	0.0071	-14	c.282 others(33): Show c.2823+1972_2823+1985delTTTTTTTTTTTTTT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLM_chr15_90712346_90821166	90789987	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0248 a0003c0003t0003g0248	1	280	0.0036	-14	c.282 others(31): Show c.2824-639_2824-626delTTTTTTTTTTTTTT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLNK_chr10_96184171_96276569	96273760	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG03130.hp1 HG02723.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0047 a0001c0001t0001g0048	2	322	0.0062	-14	c.-23 others(25): Show c.-2376_-2363delAAAAAAAAAAAAAA	BLNK	ENSG00000095585.18	transcript	ENST00000224337.10	protein_coding		2192		chr10	TogoVar
BLOC1S5_chr6_8008567_8069389	8058357	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18967.hp2 NA21309.hp1 HG02258.hp1 NA18967.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0251 a0001c0001t0003g0247 a0001c0001t0005g0288 a0001c0001t0002g0251 a0001c0001t0003g0247 a0001c0001t0005g0288	3	364	0.0082	-14	c.195 others(31): Show c.195+4163_195+4176delTTTTTTTTTTTTTT	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLTP1_chr4_122147331_122367752	122262148	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03453.hp1 HG03471.hp2 others(2): Show HG02965.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp2 NA18906.hp1	a0008 a0016 a0017 a0008 a0016 a0017	a0008c0018 a0008c0021 a0016c0022 others(1): Show a0008c0018 a0008c0021 a0016c0022 a0017c0035	a0008c0018t0001 a0008c0021t0010 a0016c0022t0001 others(1): Show a0008c0018t0001 a0008c0021t0010 a0016c0022t0001 a0017c0035t0001	a0008c0018t0001g0114 a0008c0018t0001g0115 a0008c0021t0010g0116 others(2): Show a0008c0018t0001g0114 a0008c0018t0001g0115 a0008c0021t0010g0116 a0016c0022t0001g0113 a0017c0035t0001g0142	5	336	0.0149	-14	c.676 others(31): Show c.6763-590_6763-577delGTGTGTGTGTGTGT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	42/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122321979	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01346.hp1 HG01891.hp1 others(12): Show HG00738.hp2 HG01346.hp1 HG01891.hp1 HG02970.hp1 HG03130.hp1 NA18747.hp1 NA18966.hp2 NA18992.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA20905.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0001c0009 others(4): Show a0001c0001 a0001c0002 a0001c0009 a0001c0016 a0001c0025 a0011c0040 a0011c0041	a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 a0001c0016t0001 a0001c0025t0001 a0011c0040t0001 a0011c0041t0001	a0001c0001t0001g0145 a0001c0001t0001g0188 a0001c0001t0001g0207 others(12): Show a0001c0001t0001g0145 a0001c0001t0001g0188 a0001c0001t0001g0207 a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0070 a0001c0009t0001g0081 a0001c0009t0001g0082 a0001c0009t0001g0083 a0001c0009t0001g0168 a0001c0016t0001g0028 a0001c0016t0001g0029 a0001c0025t0001g0022 a0011c0040t0001g0248 a0011c0041t0001g0246	15	336	0.0446	-14	c.109 others(35): Show c.10996-2425_10996-2412delTTTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	64/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP3B_chr12_100032072_100147874	100047748	CTGCCTGT others(7): Show CTGCCTGTTATATTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03579.hp1 HG01167.hp2 HG03579.hp1	a0001 a0015 a0001 a0015	a0001c0025 a0015c0024 a0001c0025 a0015c0024	a0001c0025t0001 a0015c0024t0001 a0001c0025t0001 a0015c0024t0001	a0001c0025t0001g0092 a0015c0024t0001g0187 a0001c0025t0001g0092 a0015c0024t0001g0187	2	188	0.0106	-14	c.397 others(31): Show c.3973-124_3973-111delAAATATAACAGGCA	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	18/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100084378	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01255.hp2 others(17): Show HG00099.hp2 HG00738.hp2 HG01255.hp2 HG02004.hp1 HG02451.hp1 HG02572.hp2 HG02615.hp2 HG02717.hp2 HG02922.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03579.hp1 HG03579.hp2 HG04184.hp1 HG06807.hp1 NA18987.hp2 NA19240.hp1 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0016	a0001c0025 a0002c0003 a0002c0010 others(4): Show a0001c0025 a0002c0003 a0002c0010 a0003c0002 a0004c0005 a0008c0013 a0016c0022	a0001c0025t0001 a0002c0003t0001 a0002c0010t0001 others(4): Show a0001c0025t0001 a0002c0003t0001 a0002c0010t0001 a0003c0002t0001 a0004c0005t0001 a0008c0013t0001 a0016c0022t0001	a0001c0025t0001g0092 a0002c0003t0001g0021 a0002c0003t0001g0022 others(17): Show a0001c0025t0001g0092 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0010t0001g0023 a0002c0010t0001g0024 a0003c0002t0001g0031 a0003c0002t0001g0036 a0003c0002t0001g0038 a0003c0002t0001g0039 a0003c0002t0001g0043 a0003c0002t0001g0048 a0003c0002t0001g0093 a0003c0002t0001g0095 a0003c0002t0001g0096 a0003c0002t0001g0097 a0004c0005t0001g0054 a0008c0013t0001g0001 a0016c0022t0001g0016	20	188	0.1064	-14	c.128 others(29): Show c.1288+84_1288+97delTGTGTGTGTGTGTG	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	10/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100104884	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03195.hp1 HG02486.hp1 HG03195.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0004 a0011c0011t0001g0005 a0011c0011t0001g0004 a0011c0011t0001g0005	2	188	0.0106	-14	c.208 others(29): Show c.208-947_208-934delTTTTTTTTTTTTTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	2/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100109159	CCTCTCTC others(7): Show CCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02056.hp2 HG02615.hp2 others(6): Show HG01346.hp2 HG02056.hp2 HG02615.hp2 HG02717.hp2 HG03209.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1	a0001 a0002 a0016 others(1): Show a0001 a0002 a0016 a0017	a0001c0001 a0001c0025 a0002c0003 others(2): Show a0001c0001 a0001c0025 a0002c0003 a0016c0022 a0017c0020	a0001c0001t0001 a0001c0025t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0025t0001 a0002c0003t0001 a0016c0022t0001 a0017c0020t0001	a0001c0001t0001g0089 a0001c0025t0001g0092 a0002c0003t0001g0017 others(6): Show a0001c0001t0001g0089 a0001c0025t0001g0092 a0002c0003t0001g0017 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0025 a0002c0003t0001g0026 a0016c0022t0001g0016 a0017c0020t0001g0006	9	188	0.0479	-14	c.45- others(27): Show c.45-625_45-612delAGAGAGAGAGAGAG	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100124936	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp2 HG01496.hp2 others(6): Show HG00741.hp1 HG01074.hp2 HG01496.hp2 HG02698.hp2 HG03540.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0118 others(6): Show a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0176 a0002c0003t0001g0017	9	188	0.0479	-14	c.45- others(31): Show c.45-16402_45-16389delTATATATATATATA	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100130968	AGAGAGAG others(7): Show AGAGAGAGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01074.hp1 HG01256.hp2 others(3): Show HG00673.hp2 HG01074.hp1 HG01256.hp2 HG01928.hp2 HG02735.hp2 HG04184.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0049 a0004c0005t0001g0050 a0004c0005t0001g0051 others(3): Show a0004c0005t0001g0049 a0004c0005t0001g0050 a0004c0005t0001g0051 a0004c0005t0001g0052 a0004c0005t0001g0053 a0004c0005t0001g0054	6	188	0.0319	-14	c.44+ others(31): Show c.44+11610_44+11623delCCTCCCTCTCTCTC	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100130982	GGAGAGAG others(7): Show GGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18987.hp1 NA18960.hp2 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0086 a0001c0001t0001g0072 a0001c0001t0001g0086	2	188	0.0106	-14	c.44+ others(31): Show c.44+11596_44+11609delTCTCTCTCTCTCTC	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100140721	AAAAAAAA others(7): Show AAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0181 a0005c0006t0001g0181	1	188	0.0053	-14	c.44+ others(29): Show c.44+1857_44+1870delATATATTTTTTTTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLVRA_chr7_43753680_43812342	43808691	CCCTGGCG others(7): Show CCCTGGCGCCGGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02647.hp2 HG02055.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0207 a0001c0002t0002g0208	2	414	0.0048	-14	c.14 others(25): Show c.1457_*1470delCCTGGCGCCGGGCT	BLVRA	ENSG00000106605.11	transcript	ENST00000265523.9	protein_coding		1350		chr7	TogoVar
BLVRB_chr19_40442768_40470745	40448608	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(93): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp2 HG02027.hp2 HG02055.hp1 HG02129.hp2 HG02145.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18949.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18965.hp1 NA18987.hp2 NA18992.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19030.hp1 NA19054.hp1 NA19064.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19085.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0027 others(83): Show a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0136 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0195 a0001c0001t0001g0239 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0334 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0052 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0194 a0001c0001t0002g0289 a0001c0001t0002g0319 a0001c0001t0002g0320	96	362	0.2652	-14	c.464 others(29): Show c.464-576_464-563delATATATATATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	4/4			chr19	TogoVar
BLVRB_chr19_40442768_40470745	40459327	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0320 a0001c0001t0002g0320	1	362	0.0028	-14	c.80- others(27): Show c.80-796_80-783delTTTTTTTTTTTTTT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BLZF1_chr1_169363195_169393305	169375393	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp1 HG02055.hp2 others(9): Show HG01074.hp1 HG01081.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp2 HG02451.hp1 HG02886.hp2 HG03041.hp1 HG03209.hp2 NA18522.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0048 others(3): Show a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0120 a0001c0001t0001g0134 a0001c0001t0005g0028	12	366	0.0328	-14	c.29- others(29): Show c.29-1122_29-1109delATATATATATATAT	BLZF1	ENSG00000117475.14	transcript	ENST00000367808.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
BMAL1_chr11_13272790_13392266	13284104	GTGTGTGT others(7): Show GTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03139.hp2 HG03579.hp1 others(1): Show HG00140.hp2 HG03139.hp2 HG03579.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0305 a0001c0001t0001g0311 a0001c0001t0002g0310 others(1): Show a0001c0001t0001g0305 a0001c0001t0001g0311 a0001c0001t0002g0310 a0001c0001t0003g0306	4	314	0.0127	-14	c.-26 others(33): Show c.-263+6189_-263+6202delATATATATGTGTGT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13284166	ATATATAT others(7): Show ATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02165.hp2 NA18612.hp1 others(1): Show HG01099.hp1 HG02165.hp2 NA18612.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0276 a0001c0001t0001g0277 others(1): Show a0001c0001t0001g0218 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0284	4	314	0.0127	-14	c.-26 others(33): Show c.-263+6255_-263+6268delGTGTATATATATAT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13284184	ATATATAT others(7): Show ATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02145.hp1 others(11): Show HG01884.hp1 HG01884.hp2 HG02145.hp1 HG02258.hp2 HG02559.hp2 HG02622.hp2 HG02723.hp1 HG02809.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03209.hp1 HG03453.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0015 others(11): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0002g0007 a0001c0001t0002g0125 a0001c0001t0002g0126	14	314	0.0446	-14	c.-26 others(33): Show c.-263+6271_-263+6284delGTGTGTATATATAT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMERB1_chr16_15429588_15593259	15517845	TTGTGGAT others(7): Show TTGTGGATGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00597.hp1 others(96): Show HG00323.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG02602.hp1 HG02698.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG03225.hp1 HG03453.hp2 HG03491.hp1 HG03540.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG04184.hp2 NA18747.hp2 NA18946.hp2 NA18948.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18998.hp2 NA19000.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19065.hp2 NA19072.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0018 a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 a0001c0002t0017 a0001c0002t0021 a0001c0004t0010 a0001c0005t0001 a0001c0006t0003 a0002c0003t0002	a0001c0001t0001g0014 a0001c0001t0001g0041 a0001c0001t0001g0044 others(96): Show a0001c0001t0001g0014 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0053 a0001c0001t0002g0063 a0001c0001t0002g0072 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0103 a0001c0001t0002g0130 a0001c0001t0002g0142 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0101 a0001c0001t0004g0148 a0001c0001t0006g0004 a0001c0001t0007g0077 a0001c0001t0007g0084 a0001c0001t0008g0099 a0001c0001t0011g0006 a0001c0001t0011g0062 a0001c0001t0011g0134 a0001c0001t0011g0187 a0001c0001t0018g0109 a0001c0002t0001g0012 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0042 a0001c0002t0001g0045 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0058 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0071 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0100 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0108 a0001c0002t0001g0133 a0001c0002t0001g0138 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0149 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0156 a0001c0002t0001g0159 a0001c0002t0001g0169 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0234 a0001c0002t0001g0236 a0001c0002t0001g0238 a0001c0002t0001g0252 a0001c0002t0003g0022 a0001c0002t0003g0049 a0001c0002t0003g0054 a0001c0002t0003g0151 a0001c0002t0003g0153 a0001c0002t0011g0091 a0001c0002t0017g0164 a0001c0002t0021g0155 a0001c0004t0010g0116 a0001c0004t0010g0118 a0001c0004t0010g0120 a0001c0005t0001g0081 a0001c0005t0001g0082 a0001c0006t0003g0003 a0002c0003t0002g0080	99	291	0.3402	-14	c.230 others(31): Show c.230+2432_230+2445delTGTGGATGTGTGTG	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15517874	GGTGTGTG others(7): Show GGTGTGTGGATGTGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01261.hp2 HG01884.hp1 others(23): Show HG01243.hp1 HG01261.hp2 HG01884.hp1 HG02055.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp2 HG02922.hp2 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0117 a0001c0001t0001g0255 a0001c0001t0002g0093 a0001c0001t0003g0010 a0001c0001t0003g0165 a0001c0001t0003g0193 a0001c0001t0003g0203 a0001c0001t0005g0011 a0001c0001t0005g0078 a0001c0001t0005g0079 a0001c0001t0005g0119 a0001c0001t0005g0121 a0001c0001t0005g0124 a0001c0001t0005g0128 a0001c0001t0005g0131 a0001c0001t0005g0158 a0001c0001t0009g0102 a0001c0001t0009g0123 a0001c0001t0009g0125 a0001c0001t0009g0126 a0001c0001t0009g0217 a0001c0001t0015g0009 a0001c0001t0019g0127	26	291	0.0894	-14	c.230 others(31): Show c.230+2457_230+2470delGTGTGTGTGTGGAT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15519074	TACACACA others(7): Show TACACACACACACAC	T T	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	-14	c.230 others(31): Show c.230+3667_230+3680delACACACACACACAC	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15586510	ATATAAAA others(7): Show ATATAAAATGAGGAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0099 a0001c0001t0008g0099	1	291	0.0034	-14	c.503 others(29): Show c.503-192_503-179delTATAAAATGAGGAC	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMP1_chr8_22160372_22206482	22165882	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0386 a0001c0002t0001g0386	1	418	0.0024	-14	c.148 others(29): Show c.148+360_148+373delGTGTGTGTGTGTGT	BMP1	ENSG00000168487.20	transcript	ENST00000306349.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22217326	22165882	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0383 a0001c0022t0001g0383	1	408	0.0025	-14	c.148 others(29): Show c.148+360_148+373delGTGTGTGTGTGTGT	BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP2K_chr4_78771350_78921365	78822532	TATTTCAT others(7): Show TATTTCATCAGATCA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01891.hp1 HG02258.hp2 others(10): Show HG00735.hp1 HG01891.hp1 HG02258.hp2 HG02559.hp2 HG02622.hp1 HG02965.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0024 a0003c0005 a0001c0024 a0003c0005	a0001c0024t0022 a0003c0005t0008 a0003c0005t0009 a0001c0024t0022 a0003c0005t0008 a0003c0005t0009	a0001c0024t0022g0148 a0003c0005t0008g0021 a0003c0005t0008g0129 others(9): Show a0001c0024t0022g0148 a0003c0005t0008g0021 a0003c0005t0008g0129 a0003c0005t0008g0130 a0003c0005t0008g0132 a0003c0005t0008g0133 a0003c0005t0008g0134 a0003c0005t0009g0001 a0003c0005t0009g0020 a0003c0005t0009g0131 a0003c0005t0009g0135 a0003c0005t0009g0136	13	204	0.0637	-14	c.179 others(31): Show c.179-3488_179-3475delTTCATCAGATCAAT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78873656	CTCTGTGT others(7): Show CTCTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00558.hp1 others(44): Show HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00621.hp1 HG01884.hp1 HG02015.hp2 HG02040.hp1 HG02080.hp1 HG02145.hp2 HG02165.hp1 HG02273.hp2 HG02559.hp1 HG02630.hp1 HG03041.hp2 HG03688.hp1 HG03831.hp1 NA18522.hp2 NA18939.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18954.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18974.hp1 NA18988.hp1 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp1 NA19005.hp2 NA19011.hp2 NA19055.hp2 NA19056.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp2 NA19075.hp1 NA19083.hp2 NA19084.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0002c0019 a0006c0007 others(1): Show a0002c0002 a0002c0019 a0006c0007 a0006c0021	a0002c0002t0002 a0002c0002t0007 a0002c0019t0006 others(3): Show a0002c0002t0002 a0002c0002t0007 a0002c0019t0006 a0006c0007t0004 a0006c0007t0012 a0006c0021t0006	a0002c0002t0002g0039 a0002c0002t0002g0149 a0002c0002t0002g0151 others(44): Show a0002c0002t0002g0039 a0002c0002t0002g0149 a0002c0002t0002g0151 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0166 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0198 a0002c0002t0007g0165 a0002c0002t0007g0167 a0002c0002t0007g0173 a0002c0002t0007g0174 a0002c0002t0007g0181 a0002c0002t0007g0199 a0002c0019t0006g0154 a0006c0007t0004g0152 a0006c0007t0004g0156 a0006c0007t0012g0022 a0006c0007t0012g0146 a0006c0007t0012g0147 a0006c0021t0006g0023	47	204	0.2304	-14	c.179 others(31): Show c.1793+860_1793+873delCTGTGTGTGTGTGT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78873658	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG02258.hp2 others(1): Show HG00099.hp1 HG00099.hp2 HG02258.hp2 HG03927.hp1	a0001 a0004 a0016 a0001 a0004 a0016	a0001c0001 a0001c0024 a0004c0003 others(1): Show a0001c0001 a0001c0024 a0004c0003 a0016c0015	a0001c0001t0001 a0001c0024t0022 a0004c0003t0001 others(1): Show a0001c0001t0001 a0001c0024t0022 a0004c0003t0001 a0016c0015t0001	a0001c0001t0001g0104 a0001c0024t0022g0148 a0004c0003t0001g0019 others(1): Show a0001c0001t0001g0104 a0001c0024t0022g0148 a0004c0003t0001g0019 a0016c0015t0001g0125	4	204	0.0196	-14	c.179 others(31): Show c.1793+894_1793+907delGTGTGTGTGTGTGT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP6_chr6_7721099_7886728	7790514	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp2 HG01943.hp2 others(5): Show HG00140.hp1 HG01106.hp2 HG01943.hp2 HG01975.hp2 HG02083.hp2 HG03239.hp2 HG03669.hp1 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0004 a0001c0002 a0002c0003 a0002c0004	a0001c0002t0002 a0002c0003t0001 a0002c0004t0002 a0001c0002t0002 a0002c0003t0001 a0002c0004t0002	a0001c0002t0002g0099 a0001c0002t0002g0108 a0002c0003t0001g0233 others(5): Show a0001c0002t0002g0099 a0001c0002t0002g0108 a0002c0003t0001g0233 a0002c0003t0001g0251 a0002c0003t0001g0269 a0002c0004t0002g0253 a0002c0004t0002g0270 a0002c0004t0002g0281	8	308	0.0260	-14	c.665 others(33): Show c.665-54607_665-54594delAAAAAAAAAAAAAA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP7_chr20_57163753_57271641	57209239	TTATATAT others(7): Show TTATATATTTTTATA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01978.hp2 HG02257.hp1 others(3): Show HG01255.hp1 HG01978.hp2 HG02257.hp1 HG02970.hp2 HG03195.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0007 a0001c0002t0003 a0001c0002t0007	a0001c0002t0003g0001 a0001c0002t0003g0010 a0001c0002t0003g0017 others(2): Show a0001c0002t0003g0001 a0001c0002t0003g0010 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0007g0007	6	272	0.0221	-14	c.612 others(31): Show c.612-6630_612-6617delTATAAAAATATATA	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	2/6			chr20	TogoVar
BMP7_chr20_57163753_57271641	57209249	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG03540.hp2 others(1): Show HG02280.hp2 HG02486.hp1 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0014 a0001c0005t0011 a0001c0001t0002 a0001c0001t0014 a0001c0005t0011	a0001c0001t0002g0037 a0001c0001t0014g0237 a0001c0005t0011g0234 others(1): Show a0001c0001t0002g0037 a0001c0001t0014g0237 a0001c0005t0011g0234 a0001c0005t0011g0235	4	272	0.0147	-14	c.612 others(31): Show c.612-6640_612-6627delTATATATATATATA	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	2/6			chr20	TogoVar
BMP7_chr20_57163753_57271641	57232852	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	272	0.0037	-14	c.419 others(31): Show c.419-4445_419-4432delGTGTGTGTGTGTGT	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	1/6			chr20	TogoVar
BMP8A_chr1_39486636_39534869	39488285	CTTTTTTT others(7): Show CTTTTTTTTTCTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 NA18999.hp1 HG01993.hp1 NA18999.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0002 a0003c0003t0003g0024 a0003c0003t0003g0002 a0003c0003t0003g0024	2	362	0.0055	-14	c.-37 others(25): Show c.-3706_-3693delTTTTTTTTTCTTTT	BMP8A	ENSG00000183682.8	transcript	ENST00000331593.6	protein_coding		3350		chr1	TogoVar
BMP8A_chr1_39486636_39534869	39522788	AGGGGAGG others(7): Show AGGGGAGGGCCGGCT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG01071.hp2 others(29): Show HG00642.hp1 HG01069.hp1 HG01071.hp2 HG01109.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02258.hp2 HG02280.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 NA18906.hp2 NA18943.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0008 a0013 a0019	a0001c0014 a0002c0030 a0004c0004 others(5): Show a0001c0014 a0002c0030 a0004c0004 a0004c0008 a0008c0010 a0008c0032 a0013c0018 a0019c0036	a0001c0014t0001 a0002c0030t0002 a0004c0004t0004 others(10): Show a0001c0014t0001 a0002c0030t0002 a0004c0004t0004 a0004c0004t0020 a0004c0008t0004 a0004c0008t0011 a0004c0008t0020 a0004c0008t0058 a0008c0010t0004 a0008c0032t0049 a0013c0018t0020 a0013c0018t0052 a0019c0036t0061	a0001c0014t0001g0213 a0002c0030t0002g0131 a0004c0004t0004g0010 others(20): Show a0001c0014t0001g0213 a0002c0030t0002g0131 a0004c0004t0004g0010 a0004c0004t0004g0025 a0004c0004t0004g0028 a0004c0004t0004g0079 a0004c0004t0004g0081 a0004c0004t0004g0105 a0004c0004t0004g0109 a0004c0004t0020g0080 a0004c0008t0004g0085 a0004c0008t0011g0009 a0004c0008t0011g0084 a0004c0008t0020g0083 a0004c0008t0058g0088 a0008c0010t0004g0029 a0008c0010t0004g0104 a0008c0010t0004g0107 a0008c0010t0004g0110 a0008c0032t0049g0106 a0013c0018t0020g0100 a0013c0018t0052g0099 a0019c0036t0061g0257	32	362	0.0884	-14	c.949 others(29): Show c.949-196_949-183delCCGGCTGGGGAGGG	BMP8A	ENSG00000183682.8	transcript	ENST00000331593.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
BMPER_chr7_33900539_34161427	34024378	AAAAACAA others(7): Show AAAAACAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0030 a0001c0004t0030	a0001c0004t0030g0003 a0001c0004t0030g0003	1	232	0.0043	-14	c.577 others(33): Show c.577-21926_577-21913delAAACAATATATATA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34024384	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01496.hp2 HG02132.hp2 others(5): Show HG01175.hp2 HG01496.hp2 HG02132.hp2 HG02809.hp2 HG03471.hp1 NA18981.hp1 NA18983.hp2 NA19063.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0002c0006 others(3): Show a0001c0001 a0001c0003 a0002c0006 a0003c0012 a0003c0019 a0005c0013	a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 a0002c0006t0001 a0003c0012t0004 a0003c0019t0006 a0005c0013t0001	a0001c0001t0001g0165 a0001c0003t0001g0195 a0001c0003t0005g0194 others(5): Show a0001c0001t0001g0165 a0001c0003t0001g0195 a0001c0003t0005g0194 a0002c0006t0001g0141 a0002c0006t0001g0207 a0003c0012t0004g0012 a0003c0019t0006g0013 a0005c0013t0001g0206	8	232	0.0345	-14	c.577 others(33): Show c.577-21885_577-21872delATATATATATATAT	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34028601	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02056.hp1 HG00741.hp2 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0147 a0001c0001t0017g0101 a0001c0001t0001g0147 a0001c0001t0017g0101	2	232	0.0086	-14	c.577 others(33): Show c.577-17686_577-17673delTTTTTTTTTTTTTT	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34031883	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02886.hp1 HG03225.hp2 HG02280.hp1 HG02886.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0007 a0001c0011t0023 a0001c0001t0001 a0001c0001t0007 a0001c0011t0023	a0001c0001t0001g0014 a0001c0001t0007g0108 a0001c0011t0023g0221 a0001c0001t0001g0014 a0001c0001t0007g0108 a0001c0011t0023g0221	3	232	0.0129	-14	c.577 others(33): Show c.577-14391_577-14378delTATATATATATATA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar

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