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
BMPR1B_chr4_94752955_95163448	94902046	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02976.hp2 HG03209.hp1 others(3): Show HG02809.hp2 HG02976.hp2 HG03209.hp1 HG03579.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0020 a0001c0001t0028 others(3): Show a0001c0001t0011 a0001c0001t0020 a0001c0001t0028 a0001c0001t0045 a0001c0001t0050 a0001c0001t0055	a0001c0001t0011g0012 a0001c0001t0020g0130 a0001c0001t0028g0127 others(3): Show a0001c0001t0011g0012 a0001c0001t0020g0130 a0001c0001t0028g0127 a0001c0001t0045g0102 a0001c0001t0050g0020 a0001c0001t0055g0134	6	226	0.0266	10	c.-11 others(31): Show c.-113+26178_-113+26187dupTGTGTGTGTG	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94908093	A A	AAAAGAAA others(3): Show AAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0105 a0001c0001t0006g0105	1	226	0.0044	10	c.-11 others(31): Show c.-113+32196_-113+32197insGAAAAAGAAA	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94937717	C C	CACACACA others(3): Show CACACACACAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0166 a0001c0001t0012g0166	1	226	0.0044	10	c.-11 others(31): Show c.-112-58322_-112-58321insCACACACAGA	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94970239	T T	TTCTTCTC others(3): Show TTCTTCTCTTC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02486.hp2 HG02559.hp1 others(3): Show HG02040.hp1 HG02486.hp2 HG02559.hp1 HG03688.hp2 HG06807.hp2 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0006 a0001c0001t0023 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0023 a0001c0001t0056 a0001c0001t0058 a0001c0002t0021	a0001c0001t0004g0136 a0001c0001t0006g0115 a0001c0001t0023g0038 others(3): Show a0001c0001t0004g0136 a0001c0001t0006g0115 a0001c0001t0023g0038 a0001c0001t0056g0053 a0001c0001t0058g0184 a0001c0002t0021g0217	6	226	0.0266	10	c.-11 others(31): Show c.-112-25744_-112-25735dupCTTCTCTTCT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94985509	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0106 a0001c0001t0011g0106	1	226	0.0044	10	c.-11 others(31): Show c.-112-10491_-112-10482dupGTGTGTGTGT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95053281	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01099.hp1 HG01123.hp1 others(10): Show HG00280.hp2 HG01099.hp1 HG01123.hp1 HG01175.hp1 HG01361.hp1 HG02257.hp2 HG02723.hp2 HG02895.hp2 HG02976.hp2 HG03139.hp1 HG03491.hp1 NA19030.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0016 a0001c0001t0020 a0001c0001t0028 a0001c0001t0031 a0001c0001t0040 a0001c0001t0042 a0001c0001t0048 a0001c0001t0060	a0001c0001t0002g0119 a0001c0001t0003g0047 a0001c0001t0003g0064 others(10): Show a0001c0001t0002g0119 a0001c0001t0003g0047 a0001c0001t0003g0064 a0001c0001t0008g0058 a0001c0001t0008g0207 a0001c0001t0016g0126 a0001c0001t0020g0011 a0001c0001t0028g0127 a0001c0001t0031g0121 a0001c0001t0040g0142 a0001c0001t0042g0176 a0001c0001t0048g0103 a0001c0001t0060g0125	13	226	0.0575	10	c.-17 others(29): Show c.-17-51094_-17-51085dupTGTGTGTGTG	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95061160	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18948.hp1 NA18951.hp1 others(2): Show HG02027.hp1 NA18948.hp1 NA18951.hp1 NA18988.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0022	a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0002g0156 others(2): Show a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0002g0156 a0001c0001t0018g0055 a0001c0001t0022g0108	5	226	0.0221	10	c.-17 others(29): Show c.-17-43207_-17-43198dupACACACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95071646	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0015 a0001c0001t0011 a0001c0001t0015	a0001c0001t0011g0106 a0001c0001t0011g0222 a0001c0001t0015g0197 a0001c0001t0011g0106 a0001c0001t0011g0222 a0001c0001t0015g0197	3	226	0.0133	10	c.-17 others(29): Show c.-17-32761_-17-32760insATATATATAT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95071648	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	226	0.0044	10	c.-17 others(29): Show c.-17-32759_-17-32758insATATATATAT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95079457	T T	TGAAATAA others(3): Show TGAAATAATAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(131): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19070.hp1 NA19070.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0039 a0001c0001t0041 a0001c0001t0045 a0001c0001t0046 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0002t0021 a0002c0003t0017 a0003c0004t0003 a0004c0005t0034	a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0059 others(131): Show a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0002g0009 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0062 a0001c0001t0002g0068 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0092 a0001c0001t0002g0144 a0001c0001t0002g0156 a0001c0001t0002g0161 a0001c0001t0002g0169 a0001c0001t0002g0210 a0001c0001t0002g0218 a0001c0001t0002g0224 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0047 a0001c0001t0003g0064 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0107 a0001c0001t0003g0123 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0003g0164 a0001c0001t0003g0195 a0001c0001t0004g0063 a0001c0001t0005g0013 a0001c0001t0005g0022 a0001c0001t0005g0073 a0001c0001t0005g0096 a0001c0001t0005g0110 a0001c0001t0005g0132 a0001c0001t0005g0151 a0001c0001t0005g0162 a0001c0001t0005g0168 a0001c0001t0006g0105 a0001c0001t0006g0115 a0001c0001t0006g0160 a0001c0001t0006g0170 a0001c0001t0006g0177 a0001c0001t0006g0181 a0001c0001t0007g0019 a0001c0001t0008g0041 a0001c0001t0008g0207 a0001c0001t0008g0209 a0001c0001t0009g0179 a0001c0001t0010g0018 a0001c0001t0010g0208 a0001c0001t0011g0012 a0001c0001t0011g0024 a0001c0001t0011g0106 a0001c0001t0011g0191 a0001c0001t0011g0222 a0001c0001t0012g0166 a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0013g0202 a0001c0001t0015g0023 a0001c0001t0015g0197 a0001c0001t0015g0203 a0001c0001t0017g0039 a0001c0001t0018g0055 a0001c0001t0019g0109 a0001c0001t0022g0052 a0001c0001t0022g0108 a0001c0001t0023g0038 a0001c0001t0023g0216 a0001c0001t0024g0133 a0001c0001t0025g0074 a0001c0001t0027g0082 a0001c0001t0030g0141 a0001c0001t0032g0175 a0001c0001t0033g0205 a0001c0001t0035g0198 a0001c0001t0039g0223 a0001c0001t0041g0118 a0001c0001t0045g0102 a0001c0001t0046g0204 a0001c0001t0048g0103 a0001c0001t0049g0085 a0001c0001t0050g0020 a0001c0001t0051g0135 a0001c0001t0052g0196 a0001c0001t0053g0137 a0001c0001t0054g0093 a0001c0001t0055g0134 a0001c0001t0057g0008 a0001c0001t0058g0184 a0001c0001t0059g0124 a0001c0001t0061g0100 a0001c0002t0021g0014 a0001c0002t0021g0217 a0002c0003t0017g0131 a0003c0004t0003g0029 a0004c0005t0034g0140	134	226	0.5929	10	c.-17 others(29): Show c.-17-24951_-17-24950insGAAATAATAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12			chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95116415	G G	GCACACAC others(3): Show GCACACACACA	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA20129.hp2 HG02486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0055 a0001c0001t0023 a0001c0001t0055	a0001c0001t0023g0038 a0001c0001t0055g0134 a0001c0001t0023g0038 a0001c0001t0055g0134	2	226	0.0089	10	c.349 others(25): Show c.349+629_349+630insACACACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95116419	G G	GCACACAC others(3): Show GCACACACACA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0126 a0001c0001t0016g0126	1	226	0.0044	10	c.349 others(25): Show c.349+633_349+634insACACACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95116421	G G	GCACACAC others(3): Show GCACACACACA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp1 HG00735.hp2 others(9): Show HG00558.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01255.hp1 HG01261.hp2 HG02738.hp1 HG02965.hp1 HG04204.hp1 NA18948.hp1 NA19000.hp2 NA19070.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0049 a0003c0004t0003	a0001c0001t0001g0146 a0001c0001t0002g0068 a0001c0001t0002g0079 others(9): Show a0001c0001t0001g0146 a0001c0001t0002g0068 a0001c0001t0002g0079 a0001c0001t0002g0210 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0099 a0001c0001t0004g0089 a0001c0001t0004g0112 a0001c0001t0007g0114 a0001c0001t0049g0085 a0003c0004t0003g0029	12	226	0.0531	10	c.349 others(25): Show c.349+668_349+677dupACACACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95116421	G G	GCGCACAC others(3): Show GCGCACACACA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03471.hp1 HG03654.hp1 others(1): Show HG02280.hp2 HG03471.hp1 HG03654.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0019 others(1): Show a0001c0001t0003 a0001c0001t0018 a0001c0001t0019 a0001c0001t0044	a0001c0001t0003g0036 a0001c0001t0018g0055 a0001c0001t0019g0109 others(1): Show a0001c0001t0003g0036 a0001c0001t0018g0055 a0001c0001t0019g0109 a0001c0001t0044g0086	4	226	0.0177	10	c.349 others(25): Show c.349+635_349+636insGCACACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95127044	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02486.hp2 HG03139.hp1 others(4): Show HG00558.hp2 HG02486.hp2 HG03139.hp1 HG03209.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0020 a0001c0001t0023 others(3): Show a0001c0001t0004 a0001c0001t0020 a0001c0001t0023 a0001c0001t0050 a0001c0001t0052 a0001c0001t0055	a0001c0001t0004g0090 a0001c0001t0020g0011 a0001c0001t0020g0130 others(4): Show a0001c0001t0004g0090 a0001c0001t0020g0011 a0001c0001t0020g0130 a0001c0001t0023g0038 a0001c0001t0050g0020 a0001c0001t0052g0196 a0001c0001t0055g0134	7	226	0.0310	10	c.585 others(27): Show c.585+1941_585+1950dupGTGTGTGTGT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR2_chr2_202371327_202572749	202376031	T T	TGCCCACC others(3): Show TGCCCACCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00423.hp1 others(41): Show HG00099.hp1 HG00140.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG02080.hp1 HG02155.hp1 HG02273.hp1 HG02300.hp1 HG02683.hp1 HG03017.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18965.hp1 NA18983.hp2 NA18987.hp1 NA18994.hp1 NA19062.hp1 NA19070.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0006 a0001c0001 a0001c0002 a0006c0006	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0002t0012 a0001c0002t0018 a0001c0002t0044 a0001c0002t0046 a0001c0002t0051 a0006c0006t0002	a0001c0001t0001g0103 a0001c0001t0006g0053 a0001c0001t0006g0062 others(41): Show a0001c0001t0001g0103 a0001c0001t0006g0053 a0001c0001t0006g0062 a0001c0001t0006g0063 a0001c0001t0006g0079 a0001c0001t0006g0081 a0001c0001t0006g0082 a0001c0001t0006g0148 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0134 a0001c0002t0002g0146 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0012g0050 a0001c0002t0012g0056 a0001c0002t0012g0064 a0001c0002t0018g0069 a0001c0002t0018g0080 a0001c0002t0044g0061 a0001c0002t0046g0074 a0001c0002t0051g0057 a0006c0006t0002g0075	44	224	0.1964	10	c.-14 others(21): Show c.-1444_-1443insGCCCACCGCA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding		295		chr2	TogoVar
BMPR2_chr2_202371327_202572749	202393882	C C	CGAGAGAG others(3): Show CGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00544.hp2 others(3): Show HG00099.hp2 HG00423.hp2 HG00544.hp2 HG02071.hp1 HG02258.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0162 others(3): Show a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0162 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180	6	224	0.0268	10	c.76+ others(27): Show c.76+16375_76+16384dupGAGAGAGAGA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434908	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	224	0.0045	10	c.77- others(27): Show c.77-29882_77-29873dupATATATATAT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202435376	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0048 a0001c0002t0002g0048	1	224	0.0045	10	c.77- others(27): Show c.77-29410_77-29401dupATATATATAT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202448924	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	224	0.0045	10	c.77- others(27): Show c.77-15856_77-15847dupGTGTGTGTGT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202458283	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0016 a0001c0001t0049g0016	1	224	0.0045	10	c.77- others(25): Show c.77-6510_77-6501dupAAAAAAAAAA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202473795	T T	TAAATAAA others(3): Show TAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0016 a0001c0001t0049g0016	1	224	0.0045	10	c.418 others(27): Show c.418+6127_418+6136dupAAATAAAATA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202481168	T T	TTTCTCTT others(3): Show TTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01123.hp2 HG01243.hp2 others(19): Show HG00642.hp1 HG01123.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp1 HG01928.hp2 HG01978.hp1 HG01993.hp2 HG02055.hp1 HG02257.hp2 HG02273.hp2 HG02293.hp2 HG02622.hp1 HG02698.hp1 HG03139.hp1 HG03831.hp2 NA18522.hp2 NA19082.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0003 a0001c0001t0014 a0001c0001t0015 others(4): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0015 a0001c0001t0048 a0001c0001t0050 a0001c0001t0052 a0003c0008t0003	a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0019 others(19): Show a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0210 a0001c0001t0014g0033 a0001c0001t0014g0142 a0001c0001t0014g0144 a0001c0001t0015g0014 a0001c0001t0015g0023 a0001c0001t0015g0028 a0001c0001t0048g0013 a0001c0001t0050g0017 a0001c0001t0052g0145 a0003c0008t0003g0030	22	224	0.0982	10	c.418 others(29): Show c.418+13497_418+13506dupCTCTTCTCTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202485545	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01928.hp2 HG01978.hp1 others(4): Show HG01123.hp2 HG01928.hp2 HG01978.hp1 HG02257.hp2 HG02896.hp1 HG02897.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0015 others(1): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019	a0001c0001t0003g0021 a0001c0001t0003g0026 a0001c0001t0003g0210 others(4): Show a0001c0001t0003g0021 a0001c0001t0003g0026 a0001c0001t0003g0210 a0001c0001t0014g0033 a0001c0001t0015g0028 a0001c0001t0019g0010 a0001c0001t0019g0011	7	224	0.0313	10	c.418 others(29): Show c.418+17866_418+17875dupTTTTTTTTTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202546903	G G	GTGTTTTG others(3): Show GTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02723.hp1 HG03225.hp2 HG01884.hp2 HG02723.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0024 a0001c0001t0045 a0001c0001t0005 a0001c0001t0024 a0001c0001t0045	a0001c0001t0005g0224 a0001c0001t0024g0072 a0001c0001t0045g0032 a0001c0001t0005g0224 a0001c0001t0024g0072 a0001c0001t0045g0032	3	224	0.0134	10	c.141 others(29): Show c.1413+4498_1413+4507dupGTTTTGTTTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202565047	T T	TCAAAAAA others(3): Show TCAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0010 a0001c0001t0019g0011 a0001c0001t0019g0010 a0001c0001t0019g0011	2	224	0.0089	10	c.51 others(21): Show c.5111_*5120dupACAAAAAAAA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	13/13	5121	INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202572271	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0142 a0001c0001t0014g0142	1	224	0.0045	10	c.12 others(23): Show c.12325_*12326insTTTTTTTTTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding		4523		chr2	TogoVar
BMS1_chr10_42777795_42839937	42826237	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01934.hp2 HG02300.hp1 HG00099.hp1 HG01934.hp2 HG02300.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0022 a0001c0008t0007g0163 a0001c0008t0007g0022 a0001c0008t0007g0163	3	388	0.0077	10	c.345 others(29): Show c.3456+2487_3456+2496dupGTGTGTGTGT	BMS1	ENSG00000165733.8	transcript	ENST00000374518.6	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMT2_chr7_112814147_112944875	112846145	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02886.hp2 HG04199.hp2 others(1): Show HG01099.hp1 HG02886.hp2 HG04199.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0101 a0001c0001t0004g0039 a0001c0001t0005g0190 others(1): Show a0001c0001t0002g0101 a0001c0001t0004g0039 a0001c0001t0005g0190 a0001c0001t0005g0196	4	206	0.0194	10	c.474 others(29): Show c.474-13480_474-13471dupAAAAAAAAAA	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	3/4			chr7	TogoVar
BMT2_chr7_112814147_112944875	112899789	G G	GAAAAAAA others(3): Show GAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00733.hp1 HG01433.hp2 others(19): Show HG00673.hp2 HG00733.hp1 HG01433.hp2 HG01496.hp1 HG02055.hp1 HG02056.hp1 HG02280.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02965.hp2 HG03130.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03834.hp2 HG04184.hp1 NA18906.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0187 a0001c0001t0002g0111 a0001c0001t0002g0112 others(19): Show a0001c0001t0001g0187 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0027 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0004g0047 a0001c0001t0004g0052 a0001c0001t0010g0105 a0001c0001t0010g0109	22	206	0.1068	10	c.303 others(27): Show c.303-4060_303-4051dupTTTTTTTTTT	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	2/4			chr7	TogoVar
BMT2_chr7_112814147_112944875	112902416	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	206	0.0049	10	c.303 others(27): Show c.303-6687_303-6678dupTTTTTTTTTT	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	2/4			chr7	TogoVar
BMT2_chr7_112814147_112944875	112942356	A A	ATTTATTT others(3): Show ATTTATTTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG01243.hp1 HG01257.hp2 others(5): Show HG00673.hp2 HG01243.hp1 HG01257.hp2 HG02647.hp2 HG02976.hp2 HG03041.hp2 NA18970.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0170 a0001c0001t0001g0185 a0001c0001t0002g0082 others(5): Show a0001c0001t0001g0170 a0001c0001t0001g0185 a0001c0001t0002g0082 a0001c0001t0002g0101 a0001c0001t0002g0106 a0001c0001t0004g0043 a0001c0001t0004g0050 a0001c0001t0010g0105	8	206	0.0388	10	c.-26 others(21): Show c.-2607_-2606insATAAAATAAA	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding		2482		chr7	TogoVar
BMX_chrX_15495807_15561519	15512351	G G	GATTTTAT others(3): Show GATTTTATTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG03579.hp1 HG01070.hp2 HG01071.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0183 a0001c0001t0001g0014 a0001c0001t0001g0183	3	216	0.0139	10	c.325 others(25): Show c.325+850_325+859dupTTTTATTTTA	BMX	ENSG00000102010.15	transcript	ENST00000348343.11	protein_coding	4/18		INFO_REALIGN_3_PRIME	chrX	TogoVar
BMX_chrX_15495807_15561519	15512353	T T	TTTTATTT others(3): Show TTTTATTTTAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp1 HG02293.hp1 others(20): Show HG01243.hp1 HG02145.hp1 HG02293.hp1 HG02615.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03710.hp1 HG06807.hp1 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 others(16): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182	23	216	0.1065	10	c.325 others(25): Show c.325+844_325+845insCTTTATTTTA	BMX	ENSG00000102010.15	transcript	ENST00000348343.11	protein_coding	4/18		INFO_REALIGN_3_PRIME	chrX	TogoVar
BMX_chrX_15495807_15561519	15527283	T T	TATATATA others(3): Show TATATATATAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01257.hp2 HG02622.hp2 others(1): Show HG01192.hp1 HG01257.hp2 HG02622.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0138 a0001c0001t0001g0155 a0001c0001t0001g0011 a0001c0001t0001g0138 a0001c0001t0001g0155	4	216	0.0185	10	c.884 others(27): Show c.884+1189_884+1190insTATATATACA	BMX	ENSG00000102010.15	transcript	ENST00000348343.11	protein_coding	9/18		INFO_REALIGN_3_PRIME	chrX	TogoVar
BNC1_chr15_83250884_83289664	83272394	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02738.hp2 HG03491.hp2 others(1): Show HG01891.hp1 HG02738.hp2 HG03491.hp2 NA18940.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0003 a0006c0013t0002 a0001c0001t0003 a0006c0013t0002	a0001c0001t0003g0030 a0001c0001t0003g0095 a0006c0013t0002g0133 a0001c0001t0003g0030 a0001c0001t0003g0095 a0006c0013t0002g0133	4	304	0.0132	10	c.100 others(27): Show c.100-4172_100-4163dupAAAAAAAAAA	BNC1	ENSG00000169594.14	transcript	ENST00000345382.7	protein_coding	1/4			chr15	TogoVar
BNC1_chr15_83250884_83289664	83285253	G G	GCACACAC others(3): Show GCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 NA18993.hp2 NA19240.hp1 others(1): Show HG03139.hp1 NA18993.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0003 a0001c0011t0004 a0001c0001t0001 a0001c0001t0003 a0001c0011t0004	a0001c0001t0001g0062 a0001c0001t0003g0039 a0001c0011t0004g0146 a0001c0001t0001g0062 a0001c0001t0003g0039 a0001c0011t0004g0146	4	304	0.0132	10	c.-62 others(19): Show c.-626_-625insTGTGTGTGTG	BNC1	ENSG00000169594.14	transcript	ENST00000345382.7	protein_coding		590		chr15	TogoVar
BNC2_chr9_16404503_16875670	16412720	G G	GGAGAGAG others(3): Show GGAGAGAGAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp1 HG01361.hp1 HG03704.hp2 others(1): Show HG01099.hp1 HG01361.hp1 HG03704.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0036 a0001c0001t0077 a0001c0001t0015 a0001c0001t0036 a0001c0001t0077	a0001c0001t0015g0052 a0001c0001t0015g0091 a0001c0001t0036g0147 others(1): Show a0001c0001t0015g0052 a0001c0001t0015g0091 a0001c0001t0036g0147 a0001c0001t0077g0121	4	176	0.0227	10	c.62 others(21): Show c.6259_*6268dupTCTCTCTCTC	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	7/7	6268		chr9	TogoVar
BNC2_chr9_16404503_16875670	16418873	G G	GCACACAC others(3): Show GCACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp2 HG02723.hp2 HG06807.hp1 others(2): Show HG02280.hp2 HG02723.hp2 HG06807.hp1 NA18963.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0009 a0001c0001t0093 a0001c0016t0092 a0001c0001t0009 a0001c0001t0093 a0001c0016t0092	a0001c0001t0009g0036 a0001c0001t0009g0062 a0001c0001t0009g0117 others(2): Show a0001c0001t0009g0036 a0001c0001t0009g0062 a0001c0001t0009g0117 a0001c0001t0093g0109 a0001c0016t0092g0086	5	176	0.0284	10	c.10 others(19): Show c.106_*115dupTGTGTGTGTG	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	7/7	115		chr9	TogoVar
BNC2_chr9_16404503_16875670	16465434	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0069 a0002c0003t0069	a0002c0003t0069g0043 a0002c0003t0069g0043	1	176	0.0057	10	c.670 others(29): Show c.670-27920_670-27911dupTTTTTTTTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16497978	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0080 a0001c0001t0097g0080	1	176	0.0057	10	c.669 others(29): Show c.669+54542_669+54551dupACACACACAC	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16539763	G G	GGAAAGGA others(3): Show GGAAAGGAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01496.hp1 HG03704.hp2 others(3): Show HG01123.hp2 HG01496.hp1 HG03704.hp2 HG04184.hp2 NA18986.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0036 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0036 a0001c0001t0075 a0001c0001t0079 a0001c0001t0080	a0001c0001t0002g0167 a0001c0001t0005g0010 a0001c0001t0036g0147 others(3): Show a0001c0001t0002g0167 a0001c0001t0005g0010 a0001c0001t0036g0147 a0001c0001t0075g0042 a0001c0001t0079g0128 a0001c0001t0080g0069	6	176	0.0341	10	c.669 others(29): Show c.669+12766_669+12767insTTTTCCTTTC	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	5/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16555031	A A	ATTATTTT others(3): Show ATTATTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02559.hp2 others(15): Show HG02109.hp1 HG02257.hp2 HG02559.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG06807.hp1 NA19240.hp1 NA21309.hp2	a0001 a0005 a0007 others(1): Show a0001 a0005 a0007 a0012	a0001c0001 a0001c0002 a0005c0006 others(2): Show a0001c0001 a0001c0002 a0005c0006 a0007c0013 a0012c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0035 a0001c0001t0089 a0001c0001t0104 a0001c0001t0106 a0001c0002t0067 a0005c0006t0026 a0007c0013t0103 a0012c0014t0033	a0001c0001t0001g0031 a0001c0001t0003g0016 a0001c0001t0003g0063 others(15): Show a0001c0001t0001g0031 a0001c0001t0003g0016 a0001c0001t0003g0063 a0001c0001t0007g0065 a0001c0001t0007g0085 a0001c0001t0007g0158 a0001c0001t0009g0036 a0001c0001t0009g0062 a0001c0001t0009g0117 a0001c0001t0014g0041 a0001c0001t0035g0067 a0001c0001t0089g0030 a0001c0001t0104g0087 a0001c0001t0106g0034 a0001c0002t0067g0138 a0005c0006t0026g0047 a0007c0013t0103g0019 a0012c0014t0033g0078	18	176	0.1023	10	c.434 others(27): Show c.434-2267_434-2266insAAAAAAATAA	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	4/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16582892	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0096 a0001c0001t0051g0096	1	176	0.0057	10	c.433 others(23): Show c.433+81_433+90dupGTGTGTGTGT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	4/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16614958	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0027 a0003c0022t0027	a0003c0022t0027g0073 a0003c0022t0027g0073	1	176	0.0057	10	c.331 others(29): Show c.331-31883_331-31874dupTTTTTTTTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16663121	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0067 a0001c0002t0067	a0001c0002t0067g0138 a0001c0002t0067g0138	1	176	0.0057	10	c.330 others(29): Show c.330+64675_330+64676insAAAAAAAAAA	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16665386	A A	AAAAGAGA others(3): Show AAAAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03704.hp1 HG02683.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0054 a0001c0001t0016 a0001c0001t0054	a0001c0001t0016g0071 a0001c0001t0054g0142 a0001c0001t0016g0071 a0001c0001t0054g0142	2	176	0.0114	10	c.330 others(29): Show c.330+62410_330+62411insCTCTCTCTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16665386	A A	AAGAGAGA others(3): Show AAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp1 HG02717.hp2 others(3): Show HG02572.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG03486.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0003 a0001c0001t0009 a0001c0001t0035 others(2): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0035 a0001c0001t0089 a0001c0020t0107	a0001c0001t0003g0082 a0001c0001t0009g0036 a0001c0001t0009g0117 others(3): Show a0001c0001t0003g0082 a0001c0001t0009g0036 a0001c0001t0009g0117 a0001c0001t0035g0067 a0001c0001t0089g0030 a0001c0020t0107g0118	6	176	0.0341	10	c.330 others(29): Show c.330+62401_330+62410dupCTCTCTCTCT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16665490	G G	GAAAGAAA others(3): Show GAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0160 a0001c0001t0043g0160	1	176	0.0057	10	c.330 others(29): Show c.330+62306_330+62307insTTCTTTCTTT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar
BNC2_chr9_16404503_16875670	16677578	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02683.hp2 NA18952.hp2 others(1): Show HG01433.hp2 HG02683.hp2 NA18952.hp2 NA19060.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0021 others(1): Show a0001c0001 a0002c0003 a0002c0021 a0003c0008	a0001c0001t0001 a0002c0003t0001 a0002c0021t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0021t0001 a0003c0008t0100	a0001c0001t0001g0002 a0002c0003t0001g0130 a0002c0021t0001g0108 others(1): Show a0001c0001t0001g0002 a0002c0003t0001g0130 a0002c0021t0001g0108 a0003c0008t0100g0072	4	176	0.0227	10	c.330 others(29): Show c.330+50209_330+50218dupGTGTGTGTGT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	3/6			chr9	TogoVar

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