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
BMPR1A_chr10_86751619_86932969	86835549	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0031 a0001c0003t0031	a0001c0003t0031g0020 a0001c0003t0031g0020	1	278	0.0036	11	c.-26 others(30): Show c.-267-3287_-267-3277dupAAAAAAAAAAA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86866400	T T	TTTTTTTT others(4): Show TTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01071.hp2 others(16): Show HG00099.hp2 HG00639.hp1 HG01071.hp2 HG01243.hp1 HG02698.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03492.hp2 HG03704.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0001 a0004c0007 a0001c0003 a0002c0001 a0004c0007	a0001c0003t0014 a0001c0003t0031 a0001c0003t0032 others(5): Show a0001c0003t0014 a0001c0003t0031 a0001c0003t0032 a0001c0003t0033 a0001c0003t0055 a0002c0001t0008 a0002c0001t0071 a0004c0007t0010	a0001c0003t0014g0005 a0001c0003t0014g0007 a0001c0003t0014g0008 others(16): Show a0001c0003t0014g0005 a0001c0003t0014g0007 a0001c0003t0014g0008 a0001c0003t0014g0010 a0001c0003t0014g0012 a0001c0003t0031g0018 a0001c0003t0031g0020 a0001c0003t0032g0004 a0001c0003t0032g0009 a0001c0003t0033g0019 a0001c0003t0055g0006 a0002c0001t0008g0043 a0002c0001t0008g0053 a0002c0001t0008g0055 a0002c0001t0008g0056 a0002c0001t0008g0057 a0002c0001t0008g0060 a0002c0001t0071g0171 a0004c0007t0010g0016	19	278	0.0684	11	c.-15 others(30): Show c.-152-9457_-152-9456insCTTTTTTTTTT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86868778	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0013 a0001c0002t0039g0013	1	278	0.0036	11	c.-15 others(30): Show c.-152-7086_-152-7076dupTTTTTTTTTTT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86884394	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02258.hp2 HG02647.hp1 HG00642.hp2 HG02258.hp2 HG02647.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0007 a0001c0002t0040 a0002c0001t0011 a0001c0002t0007 a0001c0002t0040 a0002c0001t0011	a0001c0002t0007g0031 a0001c0002t0040g0038 a0002c0001t0011g0017 a0001c0002t0007g0031 a0001c0002t0040g0038 a0002c0001t0011g0017	3	278	0.0108	11	c.68- others(26): Show c.68-5641_68-5631dupTTTTTTTTTTT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86906723	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19007.hp2 HG02257.hp1 NA19007.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0024 a0002c0001t0002 a0002c0001t0024	a0002c0001t0002g0246 a0002c0001t0024g0228 a0002c0001t0002g0246 a0002c0001t0024g0228	2	278	0.0072	11	c.531 others(28): Show c.531-5488_531-5478dupAAAAAAAAAAA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86925719	A A	ACCTTTTT others(4): Show ACCTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0160 a0001c0002t0037g0160	1	278	0.0036	11	c.20 others(22): Show c.2000_*2001insCCTTTTTTTTT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	13/13	2001		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86925721	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG00621.hp1 HG01074.hp1 others(24): Show HG00423.hp2 HG00621.hp1 HG01074.hp1 HG01261.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02148.hp1 HG02258.hp1 HG02717.hp2 HG02922.hp1 HG03041.hp2 HG03209.hp1 HG03669.hp2 NA18963.hp2 NA18965.hp2 NA18988.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19007.hp1 NA19043.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0004 a0001c0002t0030 a0001c0002t0047 others(5): Show a0001c0002t0004 a0001c0002t0030 a0001c0002t0047 a0001c0002t0048 a0001c0003t0020 a0001c0003t0032 a0001c0003t0060 a0001c0005t0004	a0001c0002t0004g0049 a0001c0002t0004g0051 a0001c0002t0004g0067 others(24): Show a0001c0002t0004g0049 a0001c0002t0004g0051 a0001c0002t0004g0067 a0001c0002t0004g0071 a0001c0002t0004g0076 a0001c0002t0004g0079 a0001c0002t0004g0088 a0001c0002t0004g0100 a0001c0002t0004g0105 a0001c0002t0004g0112 a0001c0002t0004g0113 a0001c0002t0004g0114 a0001c0002t0004g0118 a0001c0002t0004g0141 a0001c0002t0004g0142 a0001c0002t0004g0277 a0001c0002t0030g0139 a0001c0002t0030g0144 a0001c0002t0047g0106 a0001c0002t0048g0080 a0001c0003t0020g0156 a0001c0003t0020g0157 a0001c0003t0020g0158 a0001c0003t0032g0004 a0001c0003t0032g0009 a0001c0003t0060g0153 a0001c0005t0004g0063	27	278	0.0971	11	c.20 others(22): Show c.2009_*2019dupTTTTTTTTTTT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	13/13	2020	INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1B_chr4_94752955_95163448	94845107	G G	GATCTAAT others(4): Show GATCTAATAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0019 a0001c0001t0007g0019	1	226	0.0044	11	c.-18 others(32): Show c.-182-30724_-182-30723insATCTAATAAAA	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	1/12			chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94937707	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0056 a0001c0001t0005g0056	1	226	0.0044	11	c.-11 others(32): Show c.-112-58333_-112-58332insCACACACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12			chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94970302	T T	TCTCTCTC others(4): Show TCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG01167.hp1 others(25): Show HG00639.hp2 HG00642.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01346.hp2 HG01361.hp1 HG01952.hp1 HG01978.hp1 HG02258.hp2 HG02280.hp1 HG02622.hp1 HG02965.hp2 HG03130.hp1 HG03139.hp1 HG03490.hp1 HG03490.hp2 HG03516.hp2 HG03704.hp2 NA18951.hp2 NA18960.hp2 NA19005.hp1 NA19030.hp2 NA19070.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0029 a0001c0001t0033 a0001c0001t0043	a0001c0001t0001g0059 a0001c0001t0001g0084 a0001c0001t0001g0116 others(25): Show a0001c0001t0001g0059 a0001c0001t0001g0084 a0001c0001t0001g0116 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0002g0083 a0001c0001t0002g0119 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0047 a0001c0001t0003g0064 a0001c0001t0004g0063 a0001c0001t0005g0199 a0001c0001t0005g0201 a0001c0001t0008g0060 a0001c0001t0009g0050 a0001c0001t0010g0192 a0001c0001t0010g0213 a0001c0001t0015g0203 a0001c0001t0018g0030 a0001c0001t0020g0011 a0001c0001t0029g0101 a0001c0001t0033g0205 a0001c0001t0043g0193	28	226	0.1239	11	c.-11 others(32): Show c.-112-25738_-112-25737insCTCTCTCTCTC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12			chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95026098	A A	ATTCTTTC others(4): Show ATTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0086 a0001c0001t0044g0086	1	226	0.0044	11	c.-18 others(30): Show c.-18+29966_-18+29967insCTTTCTTTCTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR2_chr2_202371327_202572749	202373158	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0166 a0001c0001t0007g0166	1	224	0.0045	11	c.-43 others(22): Show c.-4317_-4316insTTTTTTTTTTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding		3168		chr2	TogoVar
BMPR2_chr2_202371327_202572749	202384569	T T	TTTTTTTC others(4): Show TTTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00558.hp1 others(26): Show HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG01070.hp1 HG01071.hp2 HG01123.hp1 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01358.hp1 HG01433.hp1 HG02080.hp1 HG02155.hp1 HG02273.hp1 HG02300.hp1 HG03831.hp1 HG04115.hp2 HG04184.hp1 NA18941.hp1 NA18942.hp1 NA18945.hp2 NA18965.hp1 NA18994.hp1 NA19062.hp1 NA19070.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0002 a0001c0002t0012 others(3): Show a0001c0001t0006 a0001c0002t0002 a0001c0002t0012 a0001c0002t0018 a0001c0002t0044 a0001c0002t0051	a0001c0001t0006g0053 a0001c0001t0006g0062 a0001c0001t0006g0063 others(26): Show a0001c0001t0006g0053 a0001c0001t0006g0062 a0001c0001t0006g0063 a0001c0001t0006g0081 a0001c0001t0006g0082 a0001c0001t0006g0148 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0146 a0001c0002t0002g0223 a0001c0002t0012g0050 a0001c0002t0012g0056 a0001c0002t0012g0064 a0001c0002t0018g0080 a0001c0002t0044g0061 a0001c0002t0051g0057	29	224	0.1295	11	c.76+ others(26): Show c.76+7023_76+7024insTTCTTTCTTTT	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(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0057 a0001c0002t0051g0057	1	224	0.0045	11	c.418 others(30): Show c.418+17865_418+17875dupTTTTTTTTTTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202572271	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0143 a0001c0001t0041g0143	1	224	0.0045	11	c.12 others(24): Show c.12325_*12326insTTTTTTTTTTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding		4523		chr2	TogoVar
BMT2_chr7_112814147_112944875	112899789	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02622.hp1 HG02809.hp2 others(5): Show HG01192.hp2 HG02622.hp1 HG02809.hp2 HG02896.hp2 HG02922.hp2 HG03139.hp1 HG03516.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0013 a0001c0002t0008 a0001c0001t0002 a0001c0001t0013 a0001c0002t0008	a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0069 others(4): Show a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0013g0038 a0001c0002t0008g0002 a0001c0002t0008g0036 a0001c0002t0008g0037	8	206	0.0388	11	c.303 others(28): Show c.303-4061_303-4051dupTTTTTTTTTTT	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	2/4			chr7	TogoVar
BMT2_chr7_112814147_112944875	112902416	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01943.hp2 HG02004.hp2 HG00673.hp1 HG01943.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0137	3	206	0.0146	11	c.303 others(28): Show c.303-6688_303-6678dupTTTTTTTTTTT	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	2/4			chr7	TogoVar
BMX_chrX_15495807_15561519	15527247	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	216	0.0046	11	c.884 others(28): Show c.884+1152_884+1153insTATATATATAT	BMX	ENSG00000102010.15	transcript	ENST00000348343.11	protein_coding	9/18			chrX	TogoVar
BNC1_chr15_83250884_83289664	83272394	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	304	0.0033	11	c.100 others(28): Show c.100-4173_100-4163dupAAAAAAAAAAA	BNC1	ENSG00000169594.14	transcript	ENST00000345382.7	protein_coding	1/4			chr15	TogoVar
BNC2_chr9_16404503_16875670	16539730	G G	GAAAGGAA others(4): Show GAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA20129.hp2 HG02895.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0105 a0001c0001t0007 a0001c0001t0105	a0001c0001t0007g0158 a0001c0001t0105g0061 a0001c0001t0007g0158 a0001c0001t0105g0061	2	176	0.0114	11	c.669 others(30): Show c.669+12799_669+12800insTCCTTTCCTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16614958	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0084 a0001c0001t0023g0084	1	176	0.0057	11	c.331 others(30): Show c.331-31884_331-31874dupTTTTTTTTTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16630749	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03225.hp1 HG02965.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0034 a0001c0001t0007 a0001c0001t0034	a0001c0001t0007g0085 a0001c0001t0034g0115 a0001c0001t0007g0085 a0001c0001t0034g0115	2	176	0.0114	11	c.331 others(30): Show c.331-47665_331-47664insAAAAAAAAAAA	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16643305	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	176	0.0057	11	c.331 others(30): Show c.331-60231_331-60221dupTTTTTTTTTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16663121	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0027 a0001c0001t0025g0027	1	176	0.0057	11	c.330 others(30): Show c.330+64675_330+64676insAAAAAAAAAAA	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16677578	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0114 a0001c0001t0028g0114	1	176	0.0057	11	c.330 others(30): Show c.330+50218_330+50219insGTGTGTGTGTG	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16732162	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG03209.hp1 HG02055.hp1 HG02280.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0024 a0001c0002t0029 a0001c0001t0024 a0001c0002t0029	a0001c0001t0024g0133 a0001c0002t0029g0057 a0001c0002t0029g0175 a0001c0001t0024g0133 a0001c0002t0029g0057 a0001c0002t0029g0175	3	176	0.0171	11	c.130 others(28): Show c.130-4166_130-4165insCTTTTTTTTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	2/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16788891	T T	TTGAAACG others(4): Show TTGAAACGAATG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03225.hp1 HG03486.hp2 others(2): Show HG02965.hp1 HG03225.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0034 a0001c0001t0035 others(2): Show a0001c0001t0001 a0001c0001t0034 a0001c0001t0035 a0001c0001t0078 a0001c0001t0096	a0001c0001t0001g0056 a0001c0001t0034g0115 a0001c0001t0035g0067 others(2): Show a0001c0001t0001g0056 a0001c0001t0034g0115 a0001c0001t0035g0067 a0001c0001t0078g0011 a0001c0001t0096g0055	5	176	0.0284	11	c.4-5 others(26): Show c.4-50407_4-50406insCATTCGTTTCA	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16811230	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp2 HG01496.hp2 others(7): Show HG01099.hp1 HG01099.hp2 HG01496.hp2 HG02698.hp2 HG02735.hp1 HG03490.hp1 HG03669.hp2 HG03704.hp1 HG04184.hp2 HG04199.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0015 a0010c0009 a0001c0001 a0001c0015 a0010c0009	a0001c0001t0005 a0001c0001t0016 a0001c0001t0018 others(7): Show a0001c0001t0005 a0001c0001t0016 a0001c0001t0018 a0001c0001t0041 a0001c0001t0054 a0001c0001t0057 a0001c0001t0075 a0001c0001t0077 a0001c0015t0012 a0010c0009t0084	a0001c0001t0005g0102 a0001c0001t0016g0143 a0001c0001t0018g0172 others(7): Show a0001c0001t0005g0102 a0001c0001t0016g0143 a0001c0001t0018g0172 a0001c0001t0041g0148 a0001c0001t0054g0142 a0001c0001t0057g0173 a0001c0001t0075g0042 a0001c0001t0077g0121 a0001c0015t0012g0123 a0010c0009t0084g0098	10	176	0.0568	11	c.3+5 others(26): Show c.3+59405_3+59415dupTTTTTTTTTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16847409	G G	GGGGGGGG others(4): Show GGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18952.hp2 NA18983.hp1 others(1): Show HG01891.hp2 NA18952.hp2 NA18983.hp1 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0010 a0001c0001t0023 a0001c0001t0043 others(1): Show a0001c0001t0010 a0001c0001t0023 a0001c0001t0043 a0002c0003t0001	a0001c0001t0010g0166 a0001c0001t0023g0084 a0001c0001t0043g0160 others(1): Show a0001c0001t0010g0166 a0001c0001t0023g0084 a0001c0001t0043g0160 a0002c0003t0001g0130	4	176	0.0227	11	c.3+2 others(26): Show c.3+23236_3+23237insTCCCCCCCCCC	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BNIP1_chr5_173139531_173169387	173148062	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	352	0.0028	11	c.177 others(28): Show c.177+1116_177+1126dupAAAAAAAAAAA	BNIP1	ENSG00000113734.18	transcript	ENST00000351486.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
BNIP3_chr10_131962684_131986923	131981698	T T	TTGGCCTC others(4): Show TTGGCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00642.hp1 others(49): Show HG00099.hp2 HG00280.hp2 HG00642.hp1 HG00673.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01981.hp2 HG02055.hp2 HG02056.hp2 HG02165.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02922.hp2 HG02970.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18957.hp2 NA18971.hp1 NA18974.hp2 NA18978.hp2 NA18986.hp1 NA18988.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19067.hp2 NA19085.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0142 a0001c0001t0003g0004 a0001c0001t0003g0008 others(14): Show a0001c0001t0001g0142 a0001c0001t0003g0004 a0001c0001t0003g0008 a0001c0001t0003g0013 a0001c0001t0003g0024 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0147 a0001c0001t0006g0011 a0001c0002t0001g0146	52	438	0.1187	11	c.46+ others(22): Show c.46+62_46+63insGAGGGAGGCCA	BNIP3	ENSG00000176171.12	transcript	ENST00000368636.9	protein_coding	1/5			chr10	TogoVar
BNIP5_chr6_36310761_36341888	36311707	T T	TTCTCCCT others(4): Show TTCTCCCTTTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01975.hp1 HG02027.hp2 others(18): Show HG01361.hp1 HG01975.hp1 HG02027.hp2 HG02109.hp1 HG02129.hp1 HG02145.hp1 HG02622.hp1 HG02809.hp1 HG02896.hp1 HG02965.hp2 HG03516.hp1 HG04115.hp2 HG04184.hp2 NA18952.hp2 NA18983.hp1 NA19004.hp2 NA19006.hp1 NA19009.hp2 NA19010.hp2 NA19054.hp2 NA19079.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0011 a0015	a0001c0001 a0002c0002 a0004c0004 others(2): Show a0001c0001 a0002c0002 a0004c0004 a0011c0022 a0015c0020	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0004c0004t0001 a0004c0004t0002 a0011c0022t0001 a0015c0020t0001	a0001c0001t0001g0135 a0001c0001t0001g0302 a0002c0002t0001g0030 others(17): Show a0001c0001t0001g0135 a0001c0001t0001g0302 a0002c0002t0001g0030 a0002c0002t0001g0191 a0002c0002t0001g0220 a0002c0002t0001g0225 a0002c0002t0001g0272 a0002c0002t0001g0284 a0002c0002t0001g0296 a0002c0002t0001g0300 a0002c0002t0001g0333 a0002c0002t0002g0064 a0004c0004t0001g0157 a0004c0004t0001g0158 a0004c0004t0001g0230 a0004c0004t0001g0260 a0004c0004t0002g0078 a0004c0004t0002g0100 a0011c0022t0001g0229 a0015c0020t0001g0298	21	424	0.0495	11	c.56 others(22): Show c.5638_*5648dupCAAAAGGGAGA	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding		4053		chr6	TogoVar
BOC_chr3_113206557_113292459	113233148	G G	GGGTGTGT others(4): Show GGGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG00558.hp2 HG00609.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0041 a0002c0004t0005 a0002c0004t0041	a0002c0004t0005g0334 a0002c0004t0041g0203 a0002c0004t0005g0334 a0002c0004t0041g0203	2	386	0.0052	11	c.-81 others(30): Show c.-81-16573_-81-16572insGTGTGTGTGTG	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113247500	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA19060.hp2 NA18967.hp1 NA19060.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0038 a0001c0008t0004g0283 a0001c0008t0004g0038 a0001c0008t0004g0283	2	386	0.0052	11	c.-81 others(28): Show c.-81-2215_-81-2205dupAAAAAAAAAAA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113269951	G G	GCCAAATG others(4): Show GCCAAATGCCAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0328 a0002c0004t0005g0329 a0002c0004t0005g0328 a0002c0004t0005g0329	2	386	0.0052	11	c.524 others(26): Show c.524-847_524-837dupAAATGCCACCC	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOD1_chr5_173602145_173621650	173608048	A A	AGTGTCTA others(4): Show AGTGTCTACTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0058 a0001c0001t0009g0058	1	416	0.0024	11	c.23 others(20): Show c.235_*245dupCAAGTAGACAC	BOD1	ENSG00000145919.11	transcript	ENST00000311086.9	protein_coding	4/4	1190		chr5	TogoVar
BOP1_chr8_144257045_144296438	144266177	G G	GTCCCGCT others(4): Show GTCCCGCTGATC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02970.hp2 others(2): Show HG02109.hp2 HG02145.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0022 a0003c0005t0001g0023 a0003c0005t0001g0024 others(2): Show a0003c0005t0001g0022 a0003c0005t0001g0023 a0003c0005t0001g0024 a0003c0005t0001g0025 a0003c0005t0001g0026	5	398	0.0126	11	c.391 others(28): Show c.391-1107_391-1106insGATCAGCGGGA	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	3/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144283201	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02896.hp1 HG03041.hp1 others(2): Show HG02809.hp2 HG02896.hp1 HG03041.hp1 HG03540.hp2 HG03579.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0002c0004 a0015c0021 a0001c0001 a0002c0004 a0015c0021	a0001c0001t0001 a0002c0004t0001 a0015c0021t0001 a0001c0001t0001 a0002c0004t0001 a0015c0021t0001	a0001c0001t0001g0050 a0001c0001t0001g0216 a0001c0001t0001g0217 others(2): Show a0001c0001t0001g0050 a0001c0001t0001g0216 a0001c0001t0001g0217 a0002c0004t0001g0185 a0015c0021t0001g0183	5	398	0.0126	11	c.309 others(28): Show c.309+5883_309+5893dupTTTTTTTTTTT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BORA_chr13_72722923_72761196	72724701	A A	ATATATAT others(4): Show ATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	388	0.0026	11	c.-33 others(22): Show c.-3322_-3321insTATATATATAT	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding		3221		chr13	TogoVar
BORCS8_chr19_19171906_19197152	19177684	G G	GAAAAGAA others(4): Show GAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0206 a0001c0001t0003g0176 a0001c0001t0003g0206	2	428	0.0047	11	c.43 others(26): Show c.43-225_*43-224insTCTTTTCTTTT	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BORCS8_chr19_19171906_19197152	19177689	G G	GAAAAGAA others(4): Show GAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0286 a0001c0001t0004g0286	1	428	0.0023	11	c.43 others(26): Show c.43-230_*43-229insTCTTTTCTTTT	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BORCS8_chr19_19171906_19197152	19177692	G G	GAGAAAAG others(4): Show GAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02630.hp1 NA19007.hp2 HG00621.hp2 HG02630.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0051 a0001c0001t0001g0117 a0001c0001t0001g0118	3	428	0.0070	11	c.43 others(26): Show c.43-233_*43-232insTTTTCTTTTCT	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding	5/5			chr19	TogoVar
BPIFA1_chr20_33230996_33248306	33231205	G G	GAAAGAAA others(4): Show GAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	382	0.0026	11	c.-48 others(22): Show c.-4861_-4860insAAAGAAAGAAA	BPIFA1	ENSG00000198183.13	transcript	ENST00000354297.9	protein_coding		4790		chr20	TogoVar
BPIFA2_chr20_33163159_33186412	33164702	T T	TTTCTTTC others(4): Show TTTCTTTCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01261.hp1 HG01884.hp1 others(40): Show HG01243.hp1 HG01261.hp1 HG01884.hp1 HG01981.hp1 HG02074.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 NA18940.hp2 NA18941.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18963.hp1 NA18993.hp1 NA18997.hp2 NA18999.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19062.hp1 NA19074.hp2 NA19080.hp1 NA19084.hp2 NA19087.hp2 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0006 a0003c0007 others(2): Show a0001c0002 a0003c0006 a0003c0007 a0003c0009 a0004c0005	a0001c0002t0001 a0001c0002t0004 a0003c0006t0001 others(4): Show a0001c0002t0001 a0001c0002t0004 a0003c0006t0001 a0003c0006t0002 a0003c0007t0001 a0003c0009t0003 a0004c0005t0001	a0001c0002t0001g0003 a0001c0002t0001g0027 a0001c0002t0001g0028 others(11): Show a0001c0002t0001g0003 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0004g0029 a0003c0006t0001g0025 a0003c0006t0001g0026 a0003c0006t0002g0014 a0003c0007t0001g0078 a0003c0007t0001g0079 a0003c0007t0001g0081 a0003c0009t0003g0077 a0003c0009t0003g0080 a0004c0005t0001g0010 a0004c0005t0001g0075	43	378	0.1138	11	c.-35 others(22): Show c.-3523_-3522insTTCTTTCTCCC	BPIFA2	ENSG00000131050.11	transcript	ENST00000354932.6	protein_coding		3456		chr20	TogoVar
BPIFB6_chr20_33026648_33049047	33048613	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0002 a0002c0002t0000g0002	1	384	0.0026	11	c.45 others(22): Show c.4566_*4567insAAAAAAAAAAC	BPIFB6	ENSG00000167104.11	transcript	ENST00000349552.1	protein_coding		4567		chr20	TogoVar
BPIFC_chr22_32408845_32469446	32424627	C C	CTTCTTCT others(4): Show CTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02451.hp2 HG02818.hp1 others(5): Show HG00558.hp1 HG02451.hp2 HG02818.hp1 HG02976.hp1 NA18963.hp1 NA18968.hp2 NA18979.hp2 NA19240.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0007 a0002c0002 a0008c0007	a0002c0002t0001 a0002c0002t0002 a0008c0007t0002 a0002c0002t0001 a0002c0002t0002 a0008c0007t0002	a0002c0002t0001g0055 a0002c0002t0001g0107 a0002c0002t0001g0290 others(5): Show a0002c0002t0001g0055 a0002c0002t0001g0107 a0002c0002t0001g0290 a0002c0002t0002g0091 a0002c0002t0002g0100 a0008c0007t0002g0134 a0008c0007t0002g0177 a0008c0007t0002g0294	8	422	0.0190	11	c.121 others(30): Show c.1218-5224_1218-5223insAAGAAGAAGAA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPI_chr20_38299156_38342505	38339638	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01361.hp1 HG01361.hp2 others(14): Show HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp2 HG02257.hp1 HG02647.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG03130.hp1 HG03139.hp1 HG03579.hp2 HG03654.hp2 HG04199.hp1 NA19060.hp2 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0002 a0002c0011 others(3): Show a0001c0001 a0002c0002 a0002c0011 a0003c0003 a0004c0004 a0006c0005	a0001c0001t0001 a0002c0002t0001 a0002c0011t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0011t0001 a0003c0003t0001 a0004c0004t0001 a0006c0005t0001	a0001c0001t0001g0037 a0002c0002t0001g0019 a0002c0002t0001g0061 others(13): Show a0001c0001t0001g0037 a0002c0002t0001g0019 a0002c0002t0001g0061 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0119 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0011t0001g0184 a0002c0011t0001g0194 a0003c0003t0001g0157 a0004c0004t0001g0216 a0006c0005t0001g0032 a0006c0005t0001g0173 a0006c0005t0001g0181	17	426	0.0399	11	c.24 others(22): Show c.2454_*2455insAAAAAAAAAAA	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding		2134		chr20	TogoVar
BPTF_chr17_67820503_67989378	67843754	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02965.hp1 HG02559.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0003 a0001c0009t0003 a0001c0003t0003 a0001c0009t0003	a0001c0003t0003g0085 a0001c0009t0003g0082 a0001c0003t0003g0085 a0001c0009t0003g0082	2	274	0.0073	11	c.614 others(30): Show c.614-10168_614-10158dupTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0197 a0002c0002t0002g0197	1	274	0.0037	11	c.530 others(30): Show c.5304-1574_5304-1564dupTTTTTTTTTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BPTF_chr17_67820503_67989378	67934870	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02559.hp1 others(1): Show HG02145.hp1 HG02257.hp1 HG02559.hp1 HG02922.hp1	a0001 a0014 a0001 a0014	a0001c0003 a0001c0009 a0014c0028 a0001c0003 a0001c0009 a0014c0028	a0001c0003t0003 a0001c0009t0003 a0014c0028t0009 a0001c0003t0003 a0001c0009t0003 a0014c0028t0009	a0001c0003t0003g0090 a0001c0009t0003g0082 a0001c0009t0003g0083 others(1): Show a0001c0003t0003g0090 a0001c0009t0003g0082 a0001c0009t0003g0083 a0014c0028t0009g0001	4	274	0.0146	11	c.625 others(30): Show c.6259+2860_6259+2870dupAAAAAAAAAAA	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	18/27		INFO_REALIGN_3_PRIME	chr17	TogoVar

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